Full data view for gene CASR

Information The variants shown are described using the NM_000388.3 transcript reference sequence.

418 entries on 5 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     

Allele     

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     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-353G>A likely benign r.(?) p.(=) - Unknown g.121902549G>A - CASR(NM_000388.3):c.-353G>A (r.spl?) - CASR_000280 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-243+536C>G benign r.(=) p.(=) - Unknown g.121903195C>G - CASR(NM_001178065.1):c.-424C>G (p.?) - CASR_000281 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-243+607G>A benign r.(=) p.(=) - Unknown g.121903266G>A - CASR(NM_001178065.1):c.-353G>A (p.?) - CASR_000282 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2 c.-10C>T - r.(?) p.? 5'UTR  Unknown g.121973027C>T - - - CASR_000197 copied from CASRdb Christie 2007 - - Germline - - - 0 - DNA SEQ - - HHC-1 - - - - ? - - - 0 - - 1 -
?/? 7 c1846C>G - r.(?) p.(L616V) TM1  Unknown g.? - - - CASR_000049 copied from CASRdb PubMed: Stock 1999 - - Germline - - - 0 - DNA SEQ - - HYPOC-1 - - - - ? - - - 0 - - 1 -
+/? 2 c.2T>G - r.(?) p.0? SP  Unknown g.121973038T>G - (M1R) - CASR_000114 copied from CASRdb PubMed: De Andrade 2006 - - Germline - - - 0 - DNA SEQ - - HHC-1, NSHPT - - - - ? - - - 0 - - 1 -
+/? 2 c.19dupT - r.(?) p.(fs*) - Unknown g.121973055dupT - - - CASR_000228 copied from CASRdb PubMed: D'Souza-Li 2002 - - Germline - - - 0 - DNA SEQ - - HHC-1 - - - - ? - - - 0 - - 1 -
+/? 2 c.19_20insT - r.(?) p.(C7ins/fs*47) SP  Unknown g.121973055_121973056insT - - - CASR_000074 copied from CASRdb PubMed: D'Souza-Li 2002 - - Germline - - - 0 - DNA SEQ - - HHC-1 - - - - ? - - - 0 - - 1 -
+/? 2 c.32T>C - r.(?) p.(L11S) SP  Unknown g.121973068T>C - - - CASR_000097 copied from CASRdb PubMed: Pidasheva 2005 - - Germline - - - 0 - DNA SEQ - - HHC-1 - - - - ? - - - 0 - - 1 -
+/? 2 c.38T>C - r.(?) p.(L13P) SP  Unknown g.121973074T>C - - - CASR_000095 copied from CASRdb PubMed: Miyashiro 2004 - - Germline - - - 0 - DNA SEQ - - HHC-1, NSHPT - - - - ? - - - 0 - - 1 -
+/? 2 c.38T>C - r.(?) p.(L13P) SP  Unknown g.121973074T>C - - - CASR_000095 copied from CASRdb PubMed: Pidasheva 2005 - - Germline - - - 0 - DNA SEQ - - HHC-1 - - - - ? - - - 0 - - 1 -
-/? 2 c.40A>G - r.(?) p.(T14A) SP  Unknown g.121973076A>G - - - CASR_000098 copied from CASRdb PubMed: Pidasheva 2005 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - - - - ? - - - 0 - - 1 -
-/? 2 c.60C>T - r.(?) p.(Y20H) ECD  Unknown g.121973096C>T - - - CASR_000179 copied from CASRdb PubMed: Guarnieri 2010 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - - - - ? - - - 0 - - 1 -
+/? 2 c.61G>A - r.(?) p.(G21R) ECD  Unknown g.121973097G>A - - - CASR_000131 copied from CASRdb PubMed: Nissen 2007 - - Germline - - - 0 - DNA SEQ - - HHC-1 - - - - ? - - - 0 - - 1 -
+?/. - c.61G>A likely pathogenic r.(?) p.(Gly21Arg) - Unknown g.121973097G>A - CASR(NM_000388.3):c.61G>A (p.(Gly21Arg)) - CASR_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.73C>T pathogenic r.(?) p.(Arg25*) - Unknown g.121973109C>T - CASR(NM_001178065.1):c.73C>T (p.R25*) - CASR_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 2 c.73C>T - r.(?) p.(R25*) ECD  Unknown g.121973109C>T - - - CASR_000109 copied from CASRdb PubMed: Ward 2006 - - Germline - - - 0 - DNA SEQ - - HHC-1 - - - - ? - - - 0 - - 1 -
+/? 2 c.73C>T - r.(?) p.(R25*) ECD  Unknown g.121973109C>T - - - CASR_000109 copied from CASRdb Christie 2007 - - Germline - - - 0 - DNA SEQ - - NSHPT - - - - ? - - - 0 - - 1 -
+/? 2 c.73C>T - r.(?) p.(R25*) ECD  Unknown g.121973109C>T - - - CASR_000109 copied from CASRdb Despert 2005 - - Germline - - - 0 - DNA SEQ - - NSHPT - - - - ? - - - 0 - - 1 -
+/. - c.73C>T pathogenic r.(?) p.(Arg25*) - Unknown g.121973109C>T - CASR(NM_001178065.1):c.73C>T (p.R25*) - CASR_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.77C>T VUS r.(?) p.(Ala26Val) - Unknown g.121973113C>T - CASR(NM_000388.2):c.77C>T (p.Ala26Val) - CASR_000245 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.78C>G benign r.(?) p.(=) - Unknown g.121973114C>G - CASR(NM_000388.3):c.78C>G (p.= (p.Ala26Ala)) - CASR_000246 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 2 c.80A>G - r.(?) p.(Q27R) ECD  Unknown g.121973116A>G - - - CASR_000048 copied from CASRdb PubMed: Chikatsu 1999 - - Germline - - - 0 - DNA SEQ - - NSHPT - - - - ? - - - 0 - - 1 -
+/? 2 c.85A>G - r.(?) p.(K29E) ECD  Unknown g.121973121A>G - - - CASR_000089 copied from CASRdb PubMed: Hu 2004 - - Germline - - - 0 - DNA SEQ - - HYPOC-1 - - - - ? - - - 0 - - 1 -
+/? 2 c.115C>G - r.(?) p.(P39A) ECD  Unknown g.121973151C>G - - - CASR_000001 copied from CASRdb PubMed: Aida 1995 - - Germline - - - 0 - DNA SEQ - - HHC-1, NSHPT - - - - ? - - - 0 - - 1 -
+/? 2 c.118A>T - r.(?) p.(I40F) ECD  Unknown g.121973154A>T - - - CASR_000077 copied from CASRdb PubMed: Vargas-Poussou 2002 - - Germline - - - 0 - DNA SEQ - - HHC-1 - - - - ? - - - 0 - - 1 -
+/? 2 c.125T>G - r.(?) p.(F42S) ECD  Unknown g.121973161T>G - - - CASR_000167 copied from CASRdb PubMed: Cole 2009 - - Germline - - - 0 - DNA SEQ - - HHC-1 - - - - ? - - - 0 - - 1 -
+/? 2 c.141A>C - r.(?) p.(K47N) ECD  Unknown g.121973177A>C - - - CASR_000046 copied from CASRdb PubMed: Okazaki 1999 - - Germline - - - 0 - DNA SEQ - - HYPOC-1 - - - - ? - - - 0 - - 1 -
?/. - c.146A>G VUS r.(?) p.(Gln49Arg) - Unknown g.121973182A>G - CASR(NM_001178065.1):c.146A>G (p.Q49R) - CASR_000283 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2 c.157T>C - r.(?) p.(S53P) ECD  Unknown g.121973193T>C - - - CASR_000015 copied from CASRdb PubMed: Heath 1996 - - Germline - - - 0 - DNA SEQ - - HHC-1 - - - - ? - - - 0 - - 1 -
+/. - c.164C>T pathogenic r.(?) p.(Pro55Leu) - Unknown g.121973200C>T - CASR(NM_001178065.1):c.164C>T (p.Pro55Leu) - CASR_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 2 c.164C>T - r.(?) p.(P55L) ECD  Unknown g.121973200C>T - - - CASR_000016 copied from CASRdb PubMed: Heath 1996 - - Germline - - - 0 - DNA SEQ - - HHC-1 - - - - ? - - - 0 - - 1 -
+/? 2 c.164C>T - r.(?) p.(P55L) ECD  Unknown g.121973200C>T - - - CASR_000016 copied from CASRdb PubMed: Pearce 1995 - - Germline - - - 0 - DNA SEQ - - HHC-1 - - - - ? - - - 0 - - 1 -
+/? 2 c.164C>T - r.(?) p.(P55L) ECD  Unknown g.121973200C>T - - - CASR_000016 copied from CASRdb PubMed: Fukimoto 2001 - - Germline - - - 0 - DNA SEQ - - HHC-1 - - - - ? - - - 0 - - 1 -
+/? 2 c.164C>T - r.(?) p.(P55L) ECD  Unknown g.121973200C>T - - - CASR_000016 copied from CASRdb PubMed: Cetani 2003 - - Germline - - - 0 - DNA SEQ - - HHC-1 - - - - ? - - - 0 - - 1 -
+/? 2 c.164C>T - r.(?) p.(P55L) ECD  Unknown g.121973200C>T - - - CASR_000016 copied from CASRdb PubMed: Speer 2003 - - Germline - - - 0 - DNA SEQ - - HHC-1 - - - - ? - - - 0 - - 1 -
+/? 2 c.164C>T - r.(?) p.(P55L) ECD  Unknown g.121973200C>T - - - CASR_000016 copied from CASRdb PubMed: Cole 2009 - - Germline - - - 0 - DNA SEQ - - HHC-1 - - - - ? - - - 0 - - 1 -
+/? 2 c.164C>T - r.(?) p.(P55L) ECD  Unknown g.121973200C>T - - - CASR_000016 copied from CASRdb PubMed: Guarnieri 2010 - - Germline - - - 0 - DNA SEQ - - HHC-1 - - - - ? - - - 0 - - 1 -
+/? 2 c.164C>T - r.(?) p.(P55L) ECD  Unknown g.121973200C>T - - - CASR_000016 copied from CASRdb Haag 2005 - - Germline - - - 0 - DNA SEQ - - HHC-1 - - - - ? - - - 0 - - 1 -
+/? 2 c.179G>T - r.(?) p.(C60F) ECD  Unknown g.121973215G>T - - - CASR_000090 copied from CASRdb PubMed: Waller 2004 - - Germline - - - 0 - DNA SEQ - - NSHPT - - - - ? - - - 0 - - 1 -
+/? 2 c.179G>T - r.(?) p.(C60F) ECD  Unknown g.121973215G>T - - - CASR_000090 copied from CASRdb Christie 2007 - - Germline - - - 0 - DNA SEQ - - NSHPT - - - - ? - - - 0 - - 1 -
+/? 2 c.185G>T - r.(?) p.(R62M) ECD  Unknown g.121973221G>T - - - CASR_000002 copied from CASRdb PubMed: Chou 1995 - - Germline - - - 0 - DNA SEQ - - HHC-1, NSHPT - - - - ? - - - 0 - - 1 -
+/? 2i c.185+1G>C - r.spl p.? - Unknown g.121973222G>C - - - CASR_000156 copied from CASRdb PubMed: Cetani 2009 - - Germline - - - 0 - DNA SEQ - - HHC-1 - - - - ? - - - 0 - - 1 -
+/? 2i c.186-1G>T - r.spl p.? - Unknown g.121975927G>T - - - CASR_000073 copied from CASRdb PubMed: D'Souza-Li 2002 - - Germline - - - 0 - DNA SEQ - - HHC-1, NSHPT - - - - ? - - - 0 - - 1 -
+/? 3 c.196C>T - r.(?) p.(R66C) ECD  Unknown g.121975938C>T - - - CASR_000003 copied from CASRdb PubMed: Chou 1995 - - Germline - - - 0 - DNA SEQ - - HHC-1, NSHPT - - - - ? - - - 0 - - 1 -
+/? 3 c.197G>A - r.(?) p.(R66H) ECD  Unknown g.121975939G>A - - - CASR_000111 copied from CASRdb PubMed: Pidasheva 2006 - - Germline - - - 0 - DNA SEQ - - NSHPT - - - - ? - - - 0 - - 1 -
+/? 3 c.206G>A - r.(?) p.(R69H) ECD  Unknown g.121975948G>A - - - CASR_000217 copied from CASRdb Rodriguez 2009 - - Germline - - - 0 - DNA SEQ - - HHC-1 - - - - ? - - - 0 - - 1 -
+/? 3 c.243A>G - r.(?) p.(I81M) ECD  Unknown g.121975985A>G - - - CASR_000168 copied from CASRdb PubMed: Cole 2009 - - Germline - - - 0 - DNA SEQ - - HHC-1 - - - - ? - - - 0 - - 1 -
+/? 3 c.280G>C - r.(?) p.(G94R) ECD  Unknown g.121976022G>C - - - CASR_000207 copied from CASRdb Defrance-Faivre 2008 - - Germline - - - 0 - DNA SEQ - - HHC-1 - - - - ? - - - 0 - - 1 -
+/? 3 c.280G>T - r.(?) p.(G94*) ECD  Unknown g.121976022G>T - - - CASR_000092 copied from CASRdb PubMed: Ward 2004 - - Germline - - - 0 - DNA SEQ - - NSHPT - - - - ? - - - 0 - - 1 -
+/? 3 c.280G>T - r.(?) p.(G94*) ECD  Unknown g.121976022G>T - - - CASR_000092 copied from CASRdb Burrows 2001 - - Germline - - - 0 - DNA SEQ - - NSHPT - - - - ? - - - 0 - - 1 -
+/? 3 c.299C>T - r.(?) p.(T100I) ECD  Unknown g.121976041C>T - - - CASR_000087 copied from CASRdb PubMed: Warner 2004 - - Germline - - - 0 - DNA SEQ - - HRPT-1 - - - - ? - - - 0 - - 1 -
+/? 3 c.346G>A - r.(?) p.(A116T) ECD  Unknown g.121976088G>A - - - CASR_000030 copied from CASRdb PubMed: Baron 1996 - - Germline - - - 0 - DNA SEQ - - HYPOC-1 - - - - ? - - - 0 - - 1 -
+/? 3 c.346G>C - r.(?) p.(A116P) ECD  Unknown g.121976088G>C - - - CASR_000191 copied from CASRdb Christie 2007 - - Germline - - - 0 - DNA SEQ - - HYPOC-1 - - - - ? - - - 0 - - 1 -
+/. - c.350A>G pathogenic r.(?) p.(Gln117Arg) - Unknown g.121976092A>G - CASR(NM_000388.3):c.350A>G (p.(Gln117Arg)) - CASR_000284 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 3 c.354C>A - r.(?) p.(N118K) ECD  Unknown g.121976096C>A - - - CASR_000036 copied from CASRdb PubMed: Pearce 1996 - - Germline - - - 0 - DNA SEQ - - HYPOC-1 - - - - ? - - - 0 - - 1 -
+/? 3 c.354C>G - r.(?) p.(N118K) ECD  Unknown g.121976096C>G - - - CASR_000041 copied from CASRdb PubMed: De Luca 1997 - - Germline - - - 0 - DNA SEQ - - HYPOC-1 - - - - ? - - - 0 - - 1 -
+/? 3 c.354C>G - r.(?) p.(N118K) ECD  Unknown g.121976096C>G - - - CASR_000041 copied from CASRdb PubMed: Cole 2009 - - Germline - - - 0 - DNA SEQ - - HYPOC-1 - - - - ? - - - 0 - - 1 -
+/? 3 c.372C>A - r.(?) p.(N124K) ECD  Unknown g.121976114C>A - - - CASR_000076 copied from CASRdb PubMed: Hu 2002 - - Germline - - - 0 - DNA SEQ - - HYPOC-1 - - - - ? - - - 0 - - 1 -
+/? 3 c.373C>T - r.(?) p.(L125F) ECD  Unknown g.121976115C>T - - - CASR_000163 copied from CASRdb PubMed: Cole 2009 - - Germline - - - 0 - DNA SEQ - - HYPOC-1 - - - - ? - - - 0 - - 1 -
+/? 3 c.374T>C - r.(?) p.(L125P) ECD  Unknown g.121976116T>C - - - CASR_000064 copied from CASRdb PubMed: Lienhardt 2001 - - Germline - - - 0 - DNA SEQ - - HYPOC-1 - - - - ? - - - 0 - - 1 -
+/? 3 c.374T>C - r.(?) p.(L125P) ECD  Unknown g.121976116T>C - - - CASR_000064 copied from CASRdb PubMed: Sato 2002 - - Germline - - - 0 - DNA SEQ - - HYPOC-1 - - - - ? - - - 0 - - 1 -
+/? 3 c.374T>C - r.(?) p.(L125P) ECD  Unknown g.121976116T>C - - - CASR_000064 copied from CASRdb PubMed: Vargas-Poussou 2002 - - Germline - - - 0 - DNA SEQ - - HYPOC-1 - - - - ? - - - 0 - - 1 -
+/? 3 c.374T>C - r.(?) p.(L125P) - Unknown g.121976116T>C - - - CASR_000064 copied from CASRdb PubMed: Hendy 2000 - - Germline - - - 0 - DNA SEQ - - HYPOC-1 - - - - ? - - - 0 - - 1 -
+/? 3 c.379G>A - r.(?) p.(E127K) ECD  Unknown g.121976121G>A - - - CASR_000061 copied from CASRdb PubMed: Lienhardt 2001 - - Germline - - - 0 - DNA SEQ - - HYPOC-1 - - - - ? - - - 0 - - 1 -
+/? 3 c.379G>A - r.(?) p.(E127K) ECD  Unknown g.121976121G>A - - - CASR_000061 copied from CASRdb Christie 2007 - - Germline - - - 0 - DNA SEQ - - HYPOC-1 - - - - ? - - - 0 - - 1 -
+/? 3 c.380A>C - r.(?) p.(E127A) ECD  Unknown g.121976122A>C - - - CASR_000007 copied from CASRdb PubMed: Pollak 1994 - - Germline - - - 0 - DNA SEQ - - HYPOC-1 - - - - ? - - - 0 - - 1 -
+/? 3 c.380A>G - r.(?) p.(E127G) ECD  Unknown g.121976122A>G - - - CASR_000188 copied from CASRdb Christie 2007 - - Germline - - - 0 - DNA SEQ - - HYPOC-1 - - - - ? - - - 0 - - 1 -
+/? 3 c.382T>C - r.(?) p.(F128L) ECD  Unknown g.121976124T>C - - - CASR_000033 copied from CASRdb PubMed: Pearce 1996 - - Germline - - - 0 - DNA SEQ - - HYPOC-1 - - - - ? - - - 0 - - 1 -
+/? 3 c.385T>A - r.(?) p.(C129S) ECD  Unknown g.121976127T>A - - - CASR_000060 copied from CASRdb PubMed: Hirai 2001 - - Germline - - - 0 - DNA SEQ - - HYPOC-1 - - - - ? - - - 0 - - 1 -
+/? 3 c.385T>C - r.(?) p.(C129R) ECD  Unknown g.121976127T>C - - - CASR_000157 copied from CASRdb PubMed: Cole 2009 - - Germline - - - 0 - DNA SEQ - - HYPOC-1 - - - - ? - - - 0 - - 1 -
+/? 3 c.386G>A - r.(?) p.(C129Y) ECD  Unknown g.121976128G>A - - - CASR_000101 copied from CASRdb PubMed: Burren 2005 - - Germline - - - 0 - DNA SEQ - - HYPOC-1 - - - - ? - - - 0 - - 1 -
+/? 3 c.386G>A - r.(?) p.(C129Y) ECD  Unknown g.121976128G>A - - - CASR_000101 copied from CASRdb Christie 2007 - - Germline - - - 0 - DNA SEQ - - HYPOC-1 - - - - ? - - - 0 - - 1 -
+/? 3 c.386G>A - r.(?) p.(C129Y) - Unknown g.121976128G>A - - - CASR_000101 copied from CASRdb PubMed: Burren 2005 - - Germline - - - 0 - DNA SEQ - - HYPOC-1 - - - - ? - - - 0 - - 1 -
+/? 3 c.386G>T - r.(?) p.(C129F) ECD  Unknown g.121976128G>T - - - CASR_000062 copied from CASRdb PubMed: Lienhardt 2001 - - Germline - - - 0 - DNA SEQ - - HYPOC-1 - - - - ? - - - 0 - - 1 -
+/? 3 c.386G>T - r.(?) p.(C129F) - Unknown g.121976128G>T - - - CASR_000062 copied from CASRdb PubMed: Hendy 2000 - - Germline - - - 0 - DNA SEQ - - HYPOC-1 - - - - ? - - - 0 - - 1 -
+/? 3 c.392G>A - r.(?) p.(C131Y) ECD  Unknown g.121976134G>A - - - CASR_000189 copied from CASRdb Christie 2007 - - Germline - - - 0 - DNA SEQ - - HYPOC-1 - - - - ? - - - 0 - - 1 -
+/? 3 c.392G>T - r.(?) p.(C131F) ECD  Unknown g.121976134G>T - - - CASR_000099 copied from CASRdb PubMed: Suzuki 2005 - - Germline - - - 0 - DNA SEQ - - HYPOC-1 - - - - ? - - - 0 - - 1 -
+/? 3 c.393C>G - r.(?) p.(C131W) ECD  Unknown g.121976135C>G - - - CASR_000078 copied from CASRdb PubMed: Watanabe 2002 - - Germline - - - 0 - DNA SEQ - - HYPOC-1 - - - - ? - - - 0 - - 1 -
+?/. - c.409T>C likely pathogenic r.(?) p.(Ser137Pro) - Unknown g.121976151T>C - CASR(NM_001178065.1):c.409T>C (p.Ser137Pro) - CASR_000220 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 3 c.409T>C - r.(?) p.(S137P) ECD  Unknown g.121976151T>C - - - CASR_000220 copied from CASRdb Soie 1999 - - Germline - - - 0 - DNA SEQ - - HHC-1 - - - - ? - - - 0 - - 1 -
+?/. - c.412A>C likely pathogenic r.(?) p.(Thr138Pro) - Unknown g.121976154A>C - (p.Thr138Pro) - CASR_000248 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 3 c.413C>T - r.(?) p.(T138M) ECD  Unknown g.121976155C>T - - - CASR_000004 copied from CASRdb PubMed: Chou 1995 - - Germline - - - 0 - DNA SEQ - - HHC-1 - - - - ? - - - 0 - - 1 -
+/? 3 c.413C>T - r.(?) p.(T138M) ECD  Unknown g.121976155C>T - - - CASR_000004 copied from CASRdb PubMed: D'Souza-Li 2002 - - Germline - - - 0 - DNA SEQ - - HHC-1 - - - - ? - - - 0 - - 1 -
+?/. - c.413C>T likely pathogenic r.(?) p.(Thr138Met) - Unknown g.121976155C>T - CASR(NM_000388.3):c.413C>T (p.(Thr138Met)) - CASR_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 3 c.427G>A - r.(?) p.(G143R) ECD  Unknown g.121976169G>A - 427G>C - CASR_000169 copied from CASRdb PubMed: Cole 2009 - - Germline - - - 0 - DNA SEQ - - HHC-1 - - - - ? - - - 0 - - 1 -
+/? 3 c.428G>A - r.(?) p.(G143E) ECD  Unknown g.121976170G>A - - - CASR_000005 copied from CASRdb PubMed: Chou 1995 - - Germline - - - 0 - DNA SEQ - - HHC-1 - - - - ? - - - 0 - - 1 -
+/? 3 c.452C>G - r.(?) p.(T151R) ECD  Unknown g.121976194C>G - - - CASR_000211 copied from CASRdb Haag 2005 - - Germline - - - 0 - DNA SEQ - - HYPOC-1 - - - - ? - - - 0 - - 1 -
+/? 3 c.452C>G - r.(?) p.(T151R) - Unknown g.121976194C>G - - - CASR_000211 copied from CASRdb PubMed: Letz 2010 - - Germline - - - 0 - DNA SEQ - - HYPOC-1 - - - - ? - - - 0 - - 1 -
+/? 3 c.452C>T - r.(?) p.(T151M) ECD  Unknown g.121976194C>T - - - CASR_000028 copied from CASRdb PubMed: Lovlie 1996 - - Germline - - - 0 - DNA SEQ - - HYPOC-1 - - - - ? - - - 0 - - 1 -
+/? 3 c.452C>T - r.(?) p.(T151M) ECD  Unknown g.121976194C>T - - - CASR_000028 copied from CASRdb PubMed: Hoff 1999 - - Germline - - - 0 - DNA SEQ - - HYPOC-1 - - - - ? - - - 0 - - 1 -
+/? 3 c.452C>T - r.(?) p.(T151M) ECD  Unknown g.121976194C>T - - - CASR_000028 copied from CASRdb Pearce 1996 - - Germline - - - 0 - DNA SEQ - - HYPOC-1 - - - - ? - - - 0 - - 1 -
+/? 3 c.472G>A - r.(?) p.(G158R) ECD  Unknown g.121976214G>A - 472G>C - CASR_000170 copied from CASRdb PubMed: Cole 2009 - - Germline - - - 0 - DNA SEQ - - HHC-1 - - - - ? - - - 0 - - 1 -
?/. - c.472G>C VUS r.(?) p.(Gly158Arg) - Unknown g.121976214G>C - CASR(NM_000388.3):c.472G>C (p.Gly158Arg) - CASR_000249 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 3 c.476T>C - r.(?) p.(L159P) ECD  Unknown g.121976218T>C - - - CASR_000067 copied from CASRdb PubMed: Simonds 2002 - - Germline - - - 0 - DNA SEQ - - HRPT-1 - - - - ? - - - 0 - - 1 -
+?/. - c.476T>G likely pathogenic r.(?) p.(Leu159Arg) - Unknown g.121976218T>G - CASR(NM_000388.3):c.476T>G (p.Leu159Arg) - CASR_000222 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 3 c.476T>G - r.(?) p.(L159R) - Unknown g.121976218T>G - - - CASR_000222 copied from CASRdb PubMed: Ho 2010 - - Germline - - - 0 - DNA SEQ - - HHC-1 - - - - ? - - - 0 - - 1 -
+/? 3 c.482A>G - r.(?) p.(Y161C) ECD  Unknown g.121976224A>G - - - CASR_000216 copied from CASRdb Rajguru 2001 - - Germline - - - 0 - DNA SEQ - - NSHPT - - - - ? - - - 0 - - 1 -
?/. - c.488C>G VUS r.(?) p.(Pro163Arg) - Unknown g.121976230C>G - CASR(NM_001178065.1):c.488C>G (p.Pro163Arg) - CASR_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 3 c.488C>G - r.(?) p.(P163R) ECD  Unknown g.121976230C>G - - - CASR_000149 copied from CASRdb PubMed: Murugaian 2008 - - Germline - - - 0 - DNA SEQ - - Tropical calcific pancreatitis - - - - ? - - - 0 - - 1 -
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