Unique variants in the MXRA5 gene

Information The variants shown are described using the NM_015419.3 transcript reference sequence.

93 entries on 1 page. Showing entries 1 - 93.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/. 1 - c.-28-300_-28-297del r.(=) p.(=) - VUS g.3262223_3262226del g.3344182_3344185del - - MXRA5_000001 - - - - Germline - - - - - Yu Sun
?/. 1 - c.-28-299_-28-296del r.(=) p.(=) - VUS g.3262198_3262201del g.3344157_3344160del - - MXRA5_000042 - - - - Germline - - - - - Yu Sun
?/. 1 - c.-28-297_-28-296del r.(=) p.(=) - VUS g.3262198_3262199del g.3344157_3344158del - - MXRA5_000041 - - - - Germline - - - - - Yu Sun
-?/., ?/. 2 - c.664G>A r.(?) p.(Asp222Asn) - likely benign, VUS g.3248104C>T g.3330063C>T MXRA5(NM_015419.3):c.664G>A (p.(Asp222Asn)) - MXRA5_000082 recurrent, found 3 times, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 3/208 cases - - - Lucy Raymond, VKGL-NL_Leiden
?/. 1 - c.931T>A r.(?) p.(Phe311Ile) - VUS g.3242795A>T g.3324754A>T MXRA5(NM_015419.3):c.931T>A (p.(Phe311Ile)) - MXRA5_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.941C>A r.(?) p.(Pro314His) - likely benign g.3242785G>T g.3324744G>T MXRA5(NM_015419.3):c.941C>A (p.(Pro314His)) - MXRA5_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.960G>A r.(?) p.(Leu320=) - likely benign g.3242766C>T - MXRA5(NM_015419.3):c.960G>A (p.L320=) - MXRA5_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1052A>T r.(?) p.(Asp351Val) - VUS g.3242674T>A g.3324633T>A MXRA5(NM_015419.3):c.1052A>T (p.D351V) - MXRA5_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1244C>A r.(?) p.(Ala415Asp) - likely benign g.3242482G>T g.3324441G>T MXRA5(NM_015419.3):c.1244C>A (p.(Ala415Asp)) - MXRA5_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1340C>T r.(?) p.(Thr447Met) - likely benign g.3242386G>A g.3324345G>A MXRA5(NM_015419.3):c.1340C>T (p.(Thr447Met)) - MXRA5_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1354C>T r.(?) p.(Leu452=) - likely benign g.3242372G>A - MXRA5(NM_015419.3):c.1354C>T (p.L452=) - MXRA5_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1387A>G r.(?) p.(Ile463Val) - VUS g.3242339T>C g.3324298T>C - - MXRA5_000096 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - - - Lucy Raymond
-?/. 1 - c.1444A>G r.(?) p.(Ser482Gly) - likely benign g.3242282T>C - MXRA5(NM_015419.3):c.1444A>G (p.S482G) - MXRA5_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1456C>A r.(?) p.(Gln486Lys) - likely benign g.3242270G>T - MXRA5(NM_015419.3):c.1456C>A (p.Q486K) - MXRA5_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1638G>A r.(=) p.(=) - likely benign g.3242088C>T g.3324047C>T E546E - MXRA5_000095 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - - - Lucy Raymond
?/. 1 - c.1783G>A r.(?) p.(Val595Met) - VUS g.3241943C>T g.3323902C>T MXRA5(NM_015419.3):c.1783G>A (p.(Val595Met)) - MXRA5_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1935C>T r.(=) p.(=) - likely benign g.3241791G>A g.3323750G>A D645D - MXRA5_000094 recurrent, found 119 times PubMed: Tarpey 2009 - - Germline - 119/208 cases - - - Lucy Raymond
-?/. 1 - c.1988C>T r.(?) p.(Thr663Met) - likely benign g.3241738G>A g.3323697G>A MXRA5(NM_015419.3):c.1988C>T (p.T663M) - MXRA5_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2016G>A r.(=) p.(=) - likely benign g.3241710C>T g.3323669C>T G672G - MXRA5_000093 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.2027C>T r.(?) p.(Pro676Leu) - likely benign g.3241699G>A g.3323658G>A MXRA5(NM_015419.3):c.2027C>T (p.P676L) - MXRA5_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.2045G>A r.(?) p.(Arg682His) - benign g.3241681C>T g.3323640C>T MXRA5(NM_015419.3):c.2045G>A (p.R682H) - MXRA5_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2224A>G r.(?) p.(Arg742Gly) - likely benign g.3241502T>C g.3323461T>C MXRA5(NM_015419.3):c.2224A>G (p.R742G) - MXRA5_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2249C>T r.(?) p.(Ser750Leu) - VUS g.3241477G>A g.3323436G>A - - MXRA5_000092 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.2339C>T r.(?) p.(Pro780Leu) - likely benign g.3241387G>A g.3323346G>A MXRA5(NM_015419.3):c.2339C>T (p.(Pro780Leu)) - MXRA5_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.2392G>A r.(?) p.(Gly798Ser) - VUS g.3241334C>T g.3323293C>T MXRA5(NM_015419.3):c.2392G>A (p.(Gly798Ser)) - MXRA5_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/., ?/. 3 - c.2409A>G r.(=), r.(?) p.(=) - likely benign, VUS g.3241317T>C g.3323276T>C P803P - MXRA5_000005 recurrent, found 142 times PubMed: Tarpey 2009 - - Germline - 142/208 cases - - - Yu Sun, Lucy Raymond
-?/. 1 - c.2442T>C r.(=) p.(=) - likely benign g.3241284A>G g.3323243A>G S814S - MXRA5_000091 recurrent, found 120 times PubMed: Tarpey 2009 - - Germline - 120/208 cases - - - Lucy Raymond
?/. 2 - c.2470A>G r.(?) p.(Ile824Val) - VUS g.3241256T>C g.3323215T>C - - MXRA5_000002 - - - - Germline - - - - - Yu Sun
-?/., ?/. 2 - c.2480C>G r.(?) p.(Pro827Arg) - likely benign, VUS g.3241246G>C g.3323205G>C MXRA5(NM_015419.3):c.2480C>G (p.(Pro827Arg)) - MXRA5_000072 found once, nonrecurrent change, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 1/208 cases - - - Lucy Raymond, VKGL-NL_Leiden
-?/. 1 - c.2670C>A r.(?) p.(Asp890Glu) - likely benign g.3241056G>T g.3323015G>T MXRA5(NM_015419.3):c.2670C>A (p.D890E) - MXRA5_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2807A>G r.(?) p.(His936Arg) - likely benign g.3240919T>C g.3322878T>C MXRA5(NM_015419.3):c.2807A>G (p.H936R) - MXRA5_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2990C>A r.(?) p.(Thr997Asn) - likely benign g.3240736G>T g.3322695G>T MXRA5(NM_015419.3):c.2990C>A (p.T997N) - MXRA5_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3107G>C r.(?) p.(Gly1036Ala) - likely benign g.3240619C>G g.3322578C>G MXRA5(NM_015419.3):c.3107G>C (p.(Gly1036Ala)) - MXRA5_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.3281C>T r.(?) p.(Thr1094Ile) - VUS g.3240445G>A g.3322404G>A - - MXRA5_000090 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 1 - c.3383C>T r.(?) p.(Ala1128Val) - VUS g.3240343G>A g.3322302G>A - - MXRA5_000089 recurrent, found 114 times PubMed: Tarpey 2009 - - Germline - 114/208 cases - - - Lucy Raymond
-?/. 1 - c.3413C>T r.(?) p.(Pro1138Leu) - likely benign g.3240313G>A - MXRA5(NM_015419.3):c.3413C>T (p.(Pro1138Leu)) - MXRA5_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.3488G>A r.(?) p.(Arg1163His) - likely benign g.3240238C>T g.3322197C>T MXRA5(NM_015419.3):c.3488G>A (p.(Arg1163His)) - MXRA5_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.3536C>T r.(?) p.(Thr1179Ile) - likely benign g.3240190G>A g.3322149G>A MXRA5(NM_015419.3):c.3536C>T (p.T1179I) - MXRA5_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 - c.3703G>A r.(?) p.(Gly1235Arg) - likely benign, VUS g.3240023C>T g.3321982C>T MXRA5(NM_015419.3):c.3703G>A (p.G1235R, p.(Gly1235Arg)) - MXRA5_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/., ?/. 3 - c.3747C>T r.(=), r.(?) p.(=) - likely benign, VUS g.3239979G>A g.3321938G>A S1249S - MXRA5_000013 recurrent, found 20 times PubMed: Tarpey 2009 - - Germline - 20/208 cases - - - Yu Sun, Lucy Raymond
-?/. 1 - c.3898A>G r.(?) p.(Arg1300Gly) - likely benign g.3239828T>C g.3321787T>C MXRA5(NM_015419.3):c.3898A>G (p.(Arg1300Gly)) - MXRA5_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.3933G>A r.(=) p.(=) - likely benign g.3239793C>T g.3321752C>T E1311E - MXRA5_000088 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 2 - c.4067G>A r.(?) p.(Arg1356His) - likely benign g.3239659C>T g.3321618C>T MXRA5(NM_015419.3):c.4067G>A (p.R1356H, p.(Arg1356His)) - MXRA5_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.4075G>T r.(?) p.(Val1359Phe) - VUS g.3239651C>A g.3321610C>A - - MXRA5_000097 - PubMed: Morimoto 2018, Journal: Morimoto 2018 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.4162C>A r.(?) p.(Pro1388Thr) - likely benign g.3239564G>T g.3321523G>T MXRA5(NM_015419.3):c.4162C>A (p.(Pro1388Thr)) - MXRA5_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 2 - c.4181G>A r.(?) p.(Gly1394Asp) - VUS g.3239545C>T g.3321504C>T - - MXRA5_000010 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.4181G>T r.(?) p.(Gly1394Val) - likely benign g.3239545C>A g.3321504C>A MXRA5(NM_015419.3):c.4181G>T (p.G1394V) - MXRA5_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.4390C>T r.(?) p.(His1464Tyr) - likely benign g.3239336G>A g.3321295G>A MXRA5(NM_015419.3):c.4390C>T (p.(His1464Tyr)) - MXRA5_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.4752G>C r.(?) p.(Arg1584Ser) - likely benign g.3238974C>G - MXRA5(NM_015419.3):c.4752G>C (p.R1584S) - MXRA5_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.4788T>A r.(?) p.(Asp1596Glu) - VUS g.3238938A>T g.3320897A>T MXRA5(NM_015419.3):c.4788T>A (p.(Asp1596Glu)) - MXRA5_000065 found once, nonrecurrent change, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 1/208 cases - - - Lucy Raymond, VKGL-NL_Leiden
-?/. 1 - c.5136C>T r.(?) p.(Asn1712=) - likely benign g.3238590G>A - MXRA5(NM_015419.3):c.5136C>T (p.N1712=) - MXRA5_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.5180A>G r.(?) p.(Asn1727Ser) - VUS g.3238546T>C g.3320505T>C MXRA5(NM_015419.3):c.5180A>G (p.(Asn1727Ser)) - MXRA5_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.5230G>A r.(?) p.(Gly1744Arg) - VUS g.3238496C>T g.3320455C>T MXRA5(NM_015419.3):c.5230G>A (p.G1744R) - MXRA5_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.5354C>T r.(?) p.(Pro1785Leu) - VUS g.3238372G>A g.3320331G>A MXRA5(NM_015419.3):c.5354C>T (p.P1785L) - MXRA5_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.5424G>A r.(?) p.(Met1808Ile) - likely benign g.3238302C>T - MXRA5(NM_015419.3):c.5424G>A (p.M1808I) - MXRA5_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.5447T>G r.(?) p.(Ile1816Ser) - VUS g.3238279A>C g.3320238A>C MXRA5(NM_015419.3):c.5447T>G (p.(Ile1816Ser)) - MXRA5_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.5455A>T r.(?) p.(Ile1819Leu) - VUS g.3238271T>A g.3320230T>A MXRA5(NM_015419.3):c.5455A>T (p.(Ile1819Leu)) - MXRA5_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.5559A>C r.(=) p.(=) - likely benign g.3238167T>G g.3320126T>G P1853P - MXRA5_000087 recurrent, found 83 times PubMed: Tarpey 2009 - - Germline - 83/208 cases - - - Lucy Raymond
-?/. 1 - c.5599G>A r.(?) p.(Ala1867Thr) - likely benign g.3238127C>T - MXRA5(NM_015419.3):c.5599G>A (p.A1867T) - MXRA5_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.5611A>G r.(?) p.(Thr1871Ala) - VUS g.3238115T>C g.3320074T>C - - MXRA5_000086 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 2 - c.5657C>T r.(?) p.(Thr1886Ile) - VUS g.3238069G>A g.3320028G>A MXRA5(NM_015419.3):c.5657C>T (p.(Thr1886Ile)) - MXRA5_000058 found once, nonrecurrent change, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 1/208 cases - - - Lucy Raymond, VKGL-NL_Leiden
?/. 1 - c.5668G>T r.(?) p.(Val1890Phe) - VUS g.3238058C>A g.3320017C>A MXRA5(NM_015419.3):c.5668G>T (p.V1890F) - MXRA5_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.5677+36del r.(=) p.(=) - VUS g.3238014del g.3319973del - - MXRA5_000043 - - - - Germline - - - - - Yu Sun
-?/., ?/. 3 - c.5694G>A r.(=), r.(?) p.(=) - likely benign, VUS g.3236028C>T g.3317987C>T P1898P - MXRA5_000038 recurrent, found 11 times PubMed: Tarpey 2009 - - Germline - 11/208 cases - - - Yu Sun, Lucy Raymond
?/. 2 - c.5735C>G r.(?) p.(Thr1912Ser) - VUS g.3235987G>C g.3317946G>C MXRA5(NM_015419.3):c.5735C>G (p.(Thr1912Ser)) - MXRA5_000085 found once, nonrecurrent change, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 1/208 cases - - - Lucy Raymond, VKGL-NL_Leiden
?/. 1 - c.5770G>A r.(?) p.(Gly1924Ser) - VUS g.3235952C>T g.3317911C>T MXRA5(NM_015419.3):c.5770G>A (p.G1924S) - MXRA5_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.5987C>T r.(?) p.(Ser1996Phe) - likely benign g.3235735G>A g.3317694G>A MXRA5(NM_015419.3):c.5987C>T (p.S1996F) - MXRA5_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 3 - c.5998G>A r.(?) p.(Gly2000Ser) - VUS g.3235724C>T g.3317683C>T - - MXRA5_000035 recurrent, found 77 times PubMed: Tarpey 2009 - - Germline - 77/208 cases - - - Yu Sun, Lucy Raymond
?/. 1 - c.6305T>C r.(?) p.(Phe2102Ser) - VUS g.3235417A>G g.3317376A>G MXRA5(NM_015419.3):c.6305T>C (p.(Phe2102Ser)) - MXRA5_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.6506G>A r.(?) p.(Ser2169Asn) - likely benign g.3235216C>T - MXRA5(NM_015419.3):c.6506G>A (p.S2169N) - MXRA5_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.6570G>T r.(?) p.(Ala2190=) - likely benign g.3235152C>A - MXRA5(NM_015419.3):c.6570G>T (p.A2190=) - MXRA5_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.6664G>A r.(?) p.(Val2222Ile) - VUS g.3229580C>T g.3311539C>T MXRA5(NM_015419.3):c.6664G>A (p.V2222I) - MXRA5_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.6882C>T r.(?) p.(Ser2294=) - likely benign g.3229362G>A - MXRA5(NM_015419.3):c.6882C>T (p.S2294=) - MXRA5_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.6907G>A r.(?) p.(Val2303Ile) - likely benign g.3229337C>T g.3311296C>T MXRA5(NM_015419.3):c.6907G>A (p.(Val2303Ile)), MXRA5(NM_015419.4):c.6907G>A (p.V2303I) - MXRA5_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Utrecht
?/. 1 - c.7045C>T r.(?) p.(Arg2349Trp) - VUS g.3229199G>A g.3311158G>A MXRA5(NM_015419.3):c.7045C>T (p.(Arg2349Trp)) - MXRA5_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.7271C>T r.(?) p.(Ala2424Val) - VUS g.3228973G>A g.3310932G>A MXRA5(NM_015419.3):c.7271C>T (p.A2424V) - MXRA5_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.7533C>T r.(?) p.(=) - VUS g.3228711G>A g.3310670G>A - - MXRA5_000034 - - - - Germline - - - - - Yu Sun
?/. 2 - c.7569G>A r.(?) p.(=) - VUS g.3228675C>T g.3310634C>T - - MXRA5_000031 - - - - Germline - - - - - Yu Sun
?/. 1 - c.7824G>A r.(?) p.(=) - VUS g.3228420C>T g.3310379C>T - - MXRA5_000030 - - - - Germline - - - - - Yu Sun
?/. 1 - c.7833C>T r.(?) p.(=) - VUS g.3228411G>A g.3310370G>A - - MXRA5_000029 - - - - Germline - - - - - Yu Sun
?/. 1 - c.7849G>A r.(?) p.(Val2617Met) - VUS g.3228395C>T - MXRA5(NM_015419.3):c.7849G>A (p.V2617M) - MXRA5_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.8024A>G r.(?) p.(Asn2675Ser) - VUS g.3228220T>C g.3310179T>C MXRA5(NM_015419.3):c.8024A>G (p.(Asn2675Ser)) - MXRA5_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.8062G>A r.(?) p.(Val2688Ile) - VUS g.3228182C>T g.3310141C>T MXRA5(NM_015419.3):c.8062G>A (p.(Val2688Ile)) - MXRA5_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 2 - c.8100G>C r.(?) p.(Glu2700Asp) - VUS g.3228144C>G g.3310103C>G - - MXRA5_000028 recurrent, found 19 times PubMed: Tarpey 2009 - - Germline - 19/208 cases - - - Yu Sun, Lucy Raymond
-?/., ?/. 3 - c.8148G>A r.(=), r.(?) p.(=) - likely benign, VUS g.3228096C>T g.3310055C>T E2716E - MXRA5_000025 recurrent, found 7 times PubMed: Tarpey 2009 - - Germline - 7/208 cases - - - Yu Sun, Lucy Raymond
?/. 1 - c.8216C>A r.(?) p.(Pro2739His) - VUS g.3228028G>T g.3309987G>T MXRA5(NM_015419.3):c.8216C>A (p.(Pro2739His)) - MXRA5_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.8290G>C r.(?) p.(Asp2764His) - VUS g.3227954C>G g.3309913C>G MXRA5(NM_015419.3):c.8290G>C (p.(Asp2764His)) - MXRA5_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.8310G>A r.(=) p.(=) - likely benign g.3227934C>T g.3309893C>T P2770P - MXRA5_000084 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-/., ?/. 2 - c.8338C>G r.(?) p.(Gln2780Glu) - benign, VUS g.3227906G>C g.3309865G>C MXRA5(NM_015419.3):c.8338C>G (p.Q2780E, p.(Gln2780Glu)) - MXRA5_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.8379A>T r.(?) p.(Gly2793=) - likely benign g.3227865T>A - MXRA5(NM_015419.3):c.8379A>T (p.G2793=) - MXRA5_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.*75A>C r.(=) p.(=) - VUS g.3227682T>G g.3309641T>G - - MXRA5_000022 - - - - Germline - - - - - Yu Sun
?/. 2 - c.*205A>G r.(=) p.(=) - VUS g.3227552T>C g.3309511T>C - - MXRA5_000019 - - - - Germline - - - - - Yu Sun
?/. 2 - c.*1066C>A r.(=) p.(=) - VUS g.3226691G>T g.3308650G>T - - MXRA5_000016 - - - - Germline - - - - - Yu Sun
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