Full data view for gene POT1

Information The variants shown are described using the transcript reference sequence.

95 entries on 1 page. Showing entries 1 - 95.
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Effect     

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AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

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Owner     
./. - c.-11004523_*3463952del r.0? p.0? Unknown - pathogenic g.121000064_135573959del - - - IMPDH1_000003 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
-?/. - c.-480C>T r.(?) p.(=) Unknown - likely benign g.124569916G>A - POT1(NM_001042594.1):c.-742C>T (p.(=)) - POT1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-226-5377C>G r.(=) p.(=) Unknown - likely benign g.124561077G>C - POT1(NM_015450.2):c.-226-5377C>G (p.(=)) - POT1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-153-9del r.(=) p.(=) Unknown - likely benign g.124538446del g.124898392del POT1(NM_015450.2):c.-153-9delT, POT1(NM_015450.3):c.-153-9delT - POT1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-153-9del r.(=) p.(=) Unknown - likely benign g.124538446del - POT1(NM_015450.2):c.-153-9delT, POT1(NM_015450.3):c.-153-9delT - POT1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-39-17T>C r.(=) p.(=) Unknown - likely benign g.124537283A>G - POT1(NM_001042594.1):c.-301-17T>C (p.(=)) - POT1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-39-15_-39-12del r.(=) p.(=) Unknown - likely benign g.124537284_124537287del g.124897230_124897233del POT1(NM_015450.3):c.-39-15_-39-12delCTTT - POT1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.59G>A r.(?) p.(Gly20Asp) Unknown - VUS g.124532385C>T g.124892331C>T POT1(NM_015450.3):c.59G>A (p.G20D) - POT1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.64A>G r.(?) p.(Ile22Val) Unknown - likely benign g.124532380T>C g.124892326T>C POT1(NM_015450.2):c.64A>G (p.I22V), POT1(NM_015450.3):c.64A>G (p.I22V) - POT1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.64A>G r.(?) p.(Ile22Val) Unknown - likely benign g.124532380T>C - POT1(NM_015450.2):c.64A>G (p.I22V), POT1(NM_015450.3):c.64A>G (p.I22V) - POT1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.64A>G r.(?) p.(Ile22Val) Unknown - likely benign g.124532380T>C - POT1(NM_015450.2):c.64A>G (p.I22V), POT1(NM_015450.3):c.64A>G (p.I22V) - POT1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.70A>G r.(?) p.(Asn24Asp) Unknown - likely benign g.124532374T>C - POT1(NM_015450.2):c.70A>G (p.(Asn24Asp)) - POT1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.86T>A r.(?) p.(Val29Glu) Unknown - likely pathogenic g.124532358A>T - - - POT1_000069 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.104C>T r.(?) p.(Pro35Leu) Unknown ACMG VUS g.124532340G>A g.124892286G>A - - POT1_000028 ACMG grading: PP3, PM2 - - - Germline - - - - - DNA SEQ-NG-S - - - - - - F - - - - - - - 1 Andreas Laner
-?/. - c.125-7075A>T r.(=) p.(=) Unknown - likely benign g.124518170T>A - POT1(NM_001042594.1):c.-139+14150delinsT (p.(=)) - POT1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.125-6815_125-6800del r.(=) p.(=) Unknown - likely benign g.124517908_124517923del - POT1(NM_001042594.1):c.-138-14216_-138-14201del (p.(=)) - POT1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.125-1G>T r.spl? p.? Unknown - VUS g.124511096C>A - POT1(NM_015450.3):c.125-1G>T - POT1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.255+1G>T r.spl? p.? Unknown - likely pathogenic g.124510964C>A - - - POT1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.281A>G r.(?) p.(Gln94Arg) Unknown - VUS g.124503669T>C - POT1(NM_001042594.1):c.-113A>G (p.(=)) - POT1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.289_296del r.(?) p.(Thr97Trpfs*8) Unknown - pathogenic g.124503656_124503663del - POT1(NM_015450.3):c.289_296delACCAGCTC (p.T97Wfs*8) - POT1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.340A>G r.(?) p.(Ile114Val) Unknown - likely benign g.124503610T>C g.124863556T>C POT1(NM_001042594.1):c.-54A>G (p.(=)), POT1(NM_015450.3):c.340A>G (p.I114V) - POT1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.340A>G r.(?) p.(Ile114Val) Unknown - likely benign g.124503610T>C g.124863556T>C POT1(NM_001042594.1):c.-54A>G (p.(=)), POT1(NM_015450.3):c.340A>G (p.I114V) - POT1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 8 c.347C>T r.(?) p.(Pro116Leu) Unknown - likely pathogenic g.124503603G>A g.124863549G>A 946C>T - POT1_000005 - - - - Germline/De novo (untested) - - - - - DNA PCR Normal cardiac - angiosarcoma ASC4 - - ? no Germany - - - - - 1 Oriol Calvete
?/. - c.347C>T r.(?) p.(Pro116Leu) Unknown - VUS g.124503603G>A - - - POT1_000005 - - - rs1554426966 Unknown - - - - - - - - - - - - - - - - - - - - - - -
+?/. 8 c.349C>T r.(?) p.(Arg117Cys) Unknown - likely pathogenic g.124503601G>A g.124863547G>A 948C>T - POT1_000004 - - - - Germline/De novo (untested) - - - - - DNA PCR Normal cardiac tissue - STS 14T187 - - - - Spain - - - - - 1 Oriol Calvete
+/. - c.349C>T r.(?) p.(Arg117Cys) Unknown - pathogenic g.124503601G>A - - - POT1_000004 - - - rs780936436 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 8i c.546+1G>A r.spl p.? Unknown - likely pathogenic g.124503403C>T g.124863349C>T 1145-1G>A - POT1_000003 - - - - Germline/De novo (untested) - - - - - DNA PCR Normal cardiac tissue - STS 14T189 - - ? no Spain - - - - - 1 Oriol Calvete
-?/. - c.546+17A>C r.(=) p.(=) Unknown - likely benign g.124503387T>G - POT1(NM_001042594.1):c.153+17A>C (p.(=)) - POT1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.661T>C r.(?) p.(=) Unknown - likely benign g.124499052A>G - POT1(NM_015450.2):c.661T>C (p.(=)) - POT1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.702+8A>T r.(=) p.(=) Unknown - benign g.124499003T>A g.124858949T>A POT1(NM_015450.3):c.702+8A>T - POT1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.702+8_702+9delinsTG r.(=) p.(=) Unknown - benign g.124499002_124499003delinsCA - POT1(NM_015450.3):c.702+8_702+9delATinsTG - POT1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.702+9T>G r.(=) p.(=) Unknown - benign g.124499002A>C g.124858948A>C POT1(NM_015450.3):c.702+9T>G - POT1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.703-144G>A r.(=) p.(=) Unknown - likely benign g.124493336C>T - POT1(NM_015450.3):c.703-144G>A - POT1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.725A>G r.(?) p.(Tyr242Cys) Unknown - VUS g.124493170T>C - POT1(NM_015450.2):c.725A>G (p.(Tyr242Cys)) - POT1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.768G>C r.(?) p.(Gln256His) Unknown - VUS g.124493127C>G - POT1(NM_001042594.1):c.375G>C (p.(Gln125His)) - POT1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.771A>T r.(?) p.(Thr257=) Unknown - likely benign g.124493124T>A g.124853070T>A POT1(NM_015450.2):c.771A>T (p.T257=), POT1(NM_015450.3):c.771A>T (p.T257=) - POT1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.771A>T r.(?) p.(Thr257=) Unknown - likely benign g.124493124T>A - POT1(NM_015450.2):c.771A>T (p.T257=), POT1(NM_015450.3):c.771A>T (p.T257=) - POT1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.803G>A r.(?) p.(Gly268Asp) Unknown - likely pathogenic g.124493092C>T - - - POT1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.813C>A r.(?) p.(Tyr271Ter) Unknown - pathogenic g.124493082G>T g.124853028G>T POT1(NM_015450.2):c.813C>A (p.Y271*) - POT1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.818G>A r.(?) p.(Arg273Gln) Unknown - likely pathogenic g.124493077C>T - - - POT1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.870-33A>G r.(=) p.(=) Unknown - benign g.124492038T>C - POT1(NM_015450.3):c.870-33A>G - POT1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.889T>G r.(?) p.(Leu297Val) Unknown - likely benign g.124491986A>C - POT1(NM_015450.2):c.889T>G (p.(Leu297Val)) - POT1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 11 c.901C>T r.(?) p.(Gln301*) Unknown - likely pathogenic g.124491974G>A g.124851920G>A 1560C>T - POT1_000002 - - - - Germline/De novo (untested) - - - - - DNA PCR - - LFS 15S661 - - - no Spain - - - - - 1 Oriol Calvete
-?/. - c.903G>T r.(?) p.(Gln301His) Unknown - likely benign g.124491972C>A g.124851918C>A POT1(NM_001042594.1):c.510G>T (p.(Gln170His)), POT1(NM_015450.2):c.903G>T (p.Q301H), POT1(NM_015450.3):c.903G>T (p.Q301H) - POT1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.903G>T r.(?) p.(Gln301His) Unknown - likely benign g.124491972C>A g.124851918C>A POT1(NM_001042594.1):c.510G>T (p.(Gln170His)), POT1(NM_015450.2):c.903G>T (p.Q301H), POT1(NM_015450.3):c.903G>T (p.Q301H) - POT1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.903G>T r.(?) p.(Gln301His) Unknown - likely benign g.124491972C>A g.124851918C>A POT1(NM_001042594.1):c.510G>T (p.(Gln170His)), POT1(NM_015450.2):c.903G>T (p.Q301H), POT1(NM_015450.3):c.903G>T (p.Q301H) - POT1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.903G>T r.(?) p.(Gln301His) Unknown - likely benign g.124491972C>A - POT1(NM_001042594.1):c.510G>T (p.(Gln170His)), POT1(NM_015450.2):c.903G>T (p.Q301H), POT1(NM_015450.3):c.903G>T (p.Q301H) - POT1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.916A>G r.(?) p.(Ile306Val) Unknown - likely benign g.124491959T>C - POT1(NM_015450.2):c.916A>G (p.I306V), POT1(NM_015450.3):c.916A>G (p.I306V) - POT1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.916A>G r.(?) p.(Ile306Val) Unknown - likely benign g.124491959T>C - POT1(NM_015450.2):c.916A>G (p.I306V), POT1(NM_015450.3):c.916A>G (p.I306V) - POT1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.924A>G r.(?) p.(Gln308=) Unknown - benign g.124491951T>C g.124851897T>C POT1(NM_015450.3):c.924A>G (p.Q308=) - POT1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.924A>G r.(?) p.(Gln308=) Unknown - benign g.124491951T>C - - - POT1_000013 - - - rs34398311 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.937G>A r.(?) p.(Asp313Asn) Unknown - likely benign g.124491938C>T g.124851884C>T POT1(NM_015450.3):c.937G>A (p.D313N) - POT1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.938A>T r.(?) p.(Asp313Val) Unknown ACMG VUS g.124491937T>A - - - POT1_000037 ACMG: PM2_SUP, BP4 - VCV000664586.5 - Germline ? - - - - DNA SEQ-NG-I - - CMM10 182182 - - M no Germany - - - - - 1 Andreas Laner
+/. 12 c.965C>T r.(965c>u) p.(Ser322Leu) Both (homozygous) - pathogenic g.124487037G>A g.124846983G>A - - POT1_000001 - PubMed: Takai 2016 - - Germline yes - - - - DNA SEQ - - CRMCC - PubMed: Takai 2016 2-geenration family, 2 affected sisters, unaffected heterozygous carrier parents F yes - - - - - - 2 Anne Polvi
-/. - c.1006+16A>G r.(=) p.(=) Unknown - benign g.124486980T>C g.124846926T>C POT1(NM_015450.3):c.1006+16A>G - POT1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1006+16A>G r.(=) p.(=) Unknown - benign g.124486980T>C - POT1(NM_015450.3):c.1006+16A>G - POT1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1007-8C>T r.(=) p.(=) Unknown - likely benign g.124483025G>A - POT1(NM_015450.2):c.1007-8C>T - POT1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1071dup r.(?) p.(Gln358SerfsTer13) Unknown - VUS g.124482953dup g.124842899dup POT1(NM_015450.3):c.1071dup (p.Gln358SerfsTer13) - POT1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1071dup r.(?) p.(Gln358SerfsTer13) Unknown - likely pathogenic g.124482953dup - POT1(NM_015450.3):c.1071dup (p.Gln358SerfsTer13) - POT1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1088G>A r.(?) p.(Arg363Gln) Unknown - VUS g.124482936C>T - POT1(NM_015450.3):c.1088G>A (p.R363Q) - POT1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1127A>G r.(?) p.(Gln376Arg) Unknown - VUS g.124482897T>C g.124842843T>C POT1(NM_001042594.1):c.734A>G (p.(Gln245Arg)), POT1(NM_015450.2):c.1127A>G (p.Q376R), POT1(NM_015450.3):c.1127A>G (p.Q376R) - POT1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1127A>G r.(?) p.(Gln376Arg) Unknown - VUS g.124482897T>C g.124842843T>C - - POT1_000030 VUS (PathoMan) - - rs143635917 Germline ? - - - - DNA PCR blood - HNPCC (Lynch) - - - ? no Spain European Non-Finish - - - - 1 Mariona Terradas
?/. - c.1127A>G r.(?) p.(Gln376Arg) Unknown - VUS g.124482897T>C - POT1(NM_001042594.1):c.734A>G (p.(Gln245Arg)), POT1(NM_015450.2):c.1127A>G (p.Q376R), POT1(NM_015450.3):c.1127A>G (p.Q376R) - POT1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1127A>G r.(?) p.(Gln376Arg) Unknown - VUS g.124482897T>C - POT1(NM_001042594.1):c.734A>G (p.(Gln245Arg)), POT1(NM_015450.2):c.1127A>G (p.Q376R), POT1(NM_015450.3):c.1127A>G (p.Q376R) - POT1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1164-188A>T r.(=) p.(=) Unknown - benign g.124481420T>A - POT1(NM_015450.3):c.1164-188A>T - POT1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1164-171A>T r.(=) p.(=) Unknown - benign g.124481403T>A - POT1(NM_015450.3):c.1164-171A>T - POT1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1164-13C>T r.(=) p.(=) Unknown - benign g.124481245G>A - POT1(NM_015450.3):c.1164-13C>T - POT1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1211G>T r.(?) p.(Gly404Val) Unknown - benign g.124481185C>A g.124841131C>A POT1(NM_001042594.1):c.818G>T (p.(Gly273Val)), POT1(NM_015450.3):c.1211G>T (p.G404V) - POT1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1211G>T r.(?) p.(Gly404Val) Unknown - benign g.124481185C>A g.124841131C>A POT1(NM_001042594.1):c.818G>T (p.(Gly273Val)), POT1(NM_015450.3):c.1211G>T (p.G404V) - POT1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1211G>T r.(?) p.(Gly404Val) Parent #1 - benign g.124481185C>A g.124841131C>A - - POT1_000011 57 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35536751 Germline - 57/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 57 Mohammed Faruq
-/. - c.1211G>T r.(?) p.(Gly404Val) Both (homozygous) - benign g.124481185C>A g.124841131C>A - - POT1_000011 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35536751 Germline - 1/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.1213G>A r.(?) p.(Ala405Thr) Unknown - likely benign g.124481183C>T - POT1(NM_015450.2):c.1213G>A (p.(Ala405Thr)) - POT1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1228G>C r.(?) p.(Asp410His) Unknown - likely benign g.124481168C>G g.124841114C>G POT1(NM_015450.2):c.1228G>C (p.D410H) - POT1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1367A>C r.(?) p.(Glu456Ala) Unknown - VUS g.124481029T>G - - - POT1_000060 - - - rs771226403 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1369+158A>G r.(=) p.(=) Unknown - benign g.124480869T>C - POT1(NM_015450.3):c.1369+158A>G - POT1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1416T>G r.(?) p.(Ser472Arg) Unknown - VUS g.124475422A>C - POT1(NM_015450.3):c.1416T>G (p.S472R) - POT1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 15 c.1490C>A r.(?) p.(Thr497Lys) Unknown - likely pathogenic g.124475348G>T g.124835294G>T 124475347G>T - POT1_000006 - - - - Germline/De novo (untested) - - - - - DNA PCR blood - LFS G6 - - - no France - - - - - 1 Oriol Calvete
-/. - c.1505+32_1505+36del r.(=) p.(=) Unknown - benign g.124475325_124475329del g.124835271_124835275del POT1(NM_015450.3):c.1505+32_1505+36delTGTTT - POT1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1505+32_1505+36del r.(=) p.(=) Unknown - benign g.124475325_124475329del - POT1(NM_015450.3):c.1505+32_1505+36delTGTTT - POT1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1505+32_1505+36dup r.(=) p.(=) Unknown - benign g.124475325_124475329dup g.124835271_124835275dup POT1(NM_001042594.1):c.1112+32_1112+36dup (p.(=)), POT1(NM_015450.3):c.1505+29_1505+33dupTTTTG, POT1(NM_015450.3):c.1505+32_1505+36dupTGTTT - POT1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1505+32_1505+36dup r.(=) p.(=) Unknown - benign g.124475325_124475329dup - POT1(NM_001042594.1):c.1112+32_1112+36dup (p.(=)), POT1(NM_015450.3):c.1505+29_1505+33dupTTTTG, POT1(NM_015450.3):c.1505+32_1505+36dupTGTTT - POT1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1505+32_1505+36dup r.(=) p.(=) Unknown - likely benign g.124475325_124475329dup - POT1(NM_001042594.1):c.1112+32_1112+36dup (p.(=)), POT1(NM_015450.3):c.1505+29_1505+33dupTTTTG, POT1(NM_015450.3):c.1505+32_1505+36dupTGTTT - POT1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1506-43A>G r.(=) p.(=) Unknown - likely benign g.124469439T>C - POT1(NM_015450.3):c.1506-43A>G - POT1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1507_1510del r.(?) p.(Cys503AsnfsTer6) Unknown - pathogenic g.124469393_124469396del g.124829339_124829342del POT1(NM_015450.3):c.1507_1510delTGTA (p.C503Nfs*6) - POT1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1594+41T>A r.(=) p.(=) Unknown - benign g.124469267A>T - POT1(NM_015450.3):c.1594+41T>A - POT1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1687-98T>G r.(=) p.(=) Unknown - benign g.124465509A>C - POT1(NM_015450.3):c.1687-98T>G - POT1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1687-5T>A r.spl? p.? Unknown - benign g.124465416A>T g.124825362A>T POT1(NM_015450.3):c.1687-5T>A - POT1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1687-5T>A r.spl? p.? Unknown - benign g.124465416A>T - POT1(NM_015450.3):c.1687-5T>A - POT1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1742A>G r.(?) p.(Lys581Arg) Unknown - likely benign g.124465356T>C - POT1(NM_015450.2):c.1742A>G (p.(Lys581Arg)) - POT1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1761G>T r.(?) p.(Met587Ile) Unknown - VUS g.124465337C>A g.124825283C>A POT1(NM_001042594.1):c.1368G>T (p.(Met456Ile)) - POT1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1792+50A>G r.(=) p.(=) Unknown - benign g.124465256T>C - POT1(NM_015450.3):c.1792+50A>G (None) - POT1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1793-1G>C r.spl? p.? Unknown - VUS g.124464129C>G - POT1(NM_015450.3):c.1793-1G>C - POT1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1797A>G r.(?) p.(Ala599=) Unknown - likely benign g.124464124T>C g.124824070T>C POT1(NM_015450.2):c.1797A>G (p.A599=) - POT1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1829A>G r.(?) p.(Tyr610Cys) Unknown - VUS g.124464092T>C - POT1(NM_015450.2):c.1829A>G (p.(Tyr610Cys)) - POT1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1884A>C r.(?) p.(Thr628=) Unknown - benign g.124464037T>G g.124823983T>G POT1(NM_015450.3):c.1884A>C (p.T628=) - POT1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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