Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51751304delCA2036195897SCN8Ac.2132-51del (n.2132-51del)
c.136-51del
n.2260-51del
c.2165-51del (n.2165-51del)
 dbSNP
12g.51751304C>ACA2575160107SCN8Ac.2132-51C>A (n.2132-51C>A)
c.136-51C>A
n.2260-51C>A
c.2165-51C>A (n.2165-51C>A)
 gnomAD v4
12g.51751304C=CA2036195916SCN8Ac.2132-51C= (n.2132-51C=)
c.136-51C=
n.2260-51C=
c.2165-51C= (n.2165-51C=)
12g.51751304C>GCA947646986SCN8Ac.2132-51C>G (n.2132-51C>G)
c.136-51C>G
n.2260-51C>G
c.2165-51C>G (n.2165-51C>G)
 dbSNP gnomAD v3 gnomAD v4
12g.51751304C>TCA2618840348SCN8Ac.2132-51C>T (n.2132-51C>T)
c.136-51C>T
n.2260-51C>T
c.2165-51C>T (n.2165-51C>T)
 gnomAD v4
12g.51751305T>GCA6571436SCN8Ac.2132-50T>G (n.2132-50T>G)
c.136-50T>G
n.2260-50T>G
c.2165-50T>G (n.2165-50T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51751305T=CA2036195917SCN8Ac.2132-50T= (n.2132-50T=)
c.136-50T=
n.2260-50T=
c.2165-50T= (n.2165-50T=)
12g.51751305_51751306delinsTGCA2036195919SCN8Ac.2132-50_2132-49delinsTG (n.2132-50_2132-49delinsTG)
c.136-50_136-49delinsTG
n.2260-50_2260-49delinsTG
c.2165-50_2165-49delinsTG (n.2165-50_2165-49delinsTG)
12g.51751306G=CA2036195922SCN8Ac.2132-49G= (n.2132-49G=)
c.136-49G=
n.2260-49G=
c.2165-49G= (n.2165-49G=)
12g.51751306G>TCA605238521SCN8Ac.2132-49G>T (n.2132-49G>T)
c.136-49G>T
n.2260-49G>T
c.2165-49G>T (n.2165-49G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51751307delCA6571437SCN8Ac.2132-48del (n.2132-48del)
c.136-48del
n.2260-48del
c.2165-48del (n.2165-48del)
 dbSNP ExAC
12g.51751306_51751307insCTCA2522193260SCN8Ac.2132-49_2132-48insCT (n.2132-49_2132-48insCT)
c.136-49_136-48insCT
n.2260-49_2260-48insCT
c.2165-49_2165-48insCT (n.2165-49_2165-48insCT)
12g.51751307G>ACA6571438SCN8Ac.2132-48G>A (n.2132-48G>A)
c.136-48G>A
n.2260-48G>A
c.2165-48G>A (n.2165-48G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51751307G=CA2036195926SCN8Ac.2132-48G= (n.2132-48G=)
c.136-48G=
n.2260-48G=
c.2165-48G= (n.2165-48G=)
12g.51751307G>TCA6571439SCN8Ac.2132-48G>T (n.2132-48G>T)
c.136-48G>T
n.2260-48G>T
c.2165-48G>T (n.2165-48G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51751307_51751308delinsGTCA2036195931SCN8Ac.2132-48_2132-47delinsGT (n.2132-48_2132-47delinsGT)
c.136-48_136-47delinsGT
n.2260-48_2260-47delinsGT
c.2165-48_2165-47delinsGT (n.2165-48_2165-47delinsGT)
12g.51751311delCA689773381SCN8Ac.2132-44del (n.2132-44del)
c.136-44del
n.2260-44del
c.2165-44del (n.2165-44del)
 dbSNP gnomAD v3 gnomAD v4
12g.51751312C>ACA6571440SCN8Ac.2132-43C>A (n.2132-43C>A)
c.136-43C>A
n.2260-43C>A
c.2165-43C>A (n.2165-43C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51751312C=CA2036195938SCN8Ac.2132-43C= (n.2132-43C=)
c.136-43C=
n.2260-43C=
c.2165-43C= (n.2165-43C=)
12g.51751313T>CCA2618840349SCN8Ac.2132-42T>C (n.2132-42T>C)
c.136-42T>C
n.2260-42T>C
c.2165-42T>C (n.2165-42T>C)
 gnomAD v4
12g.51751315G>CCA2575160108SCN8Ac.2132-40G>C (n.2132-40G>C)
c.136-40G>C
n.2260-40G>C
c.2165-40G>C (n.2165-40G>C)
12g.51751315_51751321delCA2537369928SCN8Ac.2132-40_2132-34del (n.2132-40_2132-34del)
c.136-40_136-34del
n.2260-40_2260-34del
c.2165-40_2165-34del (n.2165-40_2165-34del)
12g.51751316C>ACA2618840350SCN8Ac.2132-39C>A (n.2132-39C>A)
c.136-39C>A
n.2260-39C>A
c.2165-39C>A (n.2165-39C>A)
 gnomAD v4
12g.51751316C=CA2036195946SCN8Ac.2132-39C= (n.2132-39C=)
c.136-39C=
n.2260-39C=
c.2165-39C= (n.2165-39C=)
12g.51751316C>TCA2036195949SCN8Ac.2132-39C>T (n.2132-39C>T)
c.136-39C>T
n.2260-39C>T
c.2165-39C>T (n.2165-39C>T)
 dbSNP gnomAD v4
12g.51751316_51751317delinsCTCA2036195945SCN8Ac.2132-39_2132-38delinsCT (n.2132-39_2132-38delinsCT)
c.136-39_136-38delinsCT
n.2260-39_2260-38delinsCT
c.2165-39_2165-38delinsCT (n.2165-39_2165-38delinsCT)
12g.51751317delCA6571441SCN8Ac.2132-38del (n.2132-38del)
c.136-38del
n.2260-38del
c.2165-38del (n.2165-38del)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51751317T>CCA605238523SCN8Ac.2132-38T>C (n.2132-38T>C)
c.136-38T>C
n.2260-38T>C
c.2165-38T>C (n.2165-38T>C)
 dbSNP gnomAD v2
12g.51751317T=CA2036195953SCN8Ac.2132-38T= (n.2132-38T=)
c.136-38T=
n.2260-38T=
c.2165-38T= (n.2165-38T=)
12g.51751318G>ACA2618840351SCN8Ac.2132-37G>A (n.2132-37G>A)
c.136-37G>A
n.2260-37G>A
c.2165-37G>A (n.2165-37G>A)
 gnomAD v4
12g.51751318G>TCA2512128645SCN8Ac.2132-37G>T (n.2132-37G>T)
c.136-37G>T
n.2260-37G>T
c.2165-37G>T (n.2165-37G>T)
12g.51751322T>CCA2618840352SCN8Ac.2132-33T>C (n.2132-33T>C)
c.136-33T>C
n.2260-33T>C
c.2165-33T>C (n.2165-33T>C)
 gnomAD v4
12g.51751324G>ACA6571442SCN8Ac.2132-31G>A (n.2132-31G>A)
c.136-31G>A
n.2260-31G>A
c.2165-31G>A (n.2165-31G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51751324G=CA2036195958SCN8Ac.2132-31G= (n.2132-31G=)
c.136-31G=
n.2260-31G=
c.2165-31G= (n.2165-31G=)
12g.51751325A>GCA2575160109SCN8Ac.2132-30A>G (n.2132-30A>G)
c.136-30A>G
n.2260-30A>G
c.2165-30A>G (n.2165-30A>G)
12g.51751326G>ACA605238524SCN8Ac.2132-29G>A (n.2132-29G>A)
c.136-29G>A
n.2260-29G>A
c.2165-29G>A (n.2165-29G>A)
 dbSNP gnomAD v2 gnomAD v4
12g.51751326G=CA2036195964SCN8Ac.2132-29G= (n.2132-29G=)
c.136-29G=
n.2260-29G=
c.2165-29G= (n.2165-29G=)
12g.51751328G>ACA6571443SCN8Ac.2132-27G>A (n.2132-27G>A)
c.136-27G>A
n.2260-27G>A
c.2165-27G>A (n.2165-27G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51751328G>CCA2036195968SCN8Ac.2132-27G>C (n.2132-27G>C)
c.136-27G>C
n.2260-27G>C
c.2165-27G>C (n.2165-27G>C)
 dbSNP
12g.51751328G=CA2036195966SCN8Ac.2132-27G= (n.2132-27G=)
c.136-27G=
n.2260-27G=
c.2165-27G= (n.2165-27G=)
12g.51751328G>TCA2618840353SCN8Ac.2132-27G>T (n.2132-27G>T)
c.136-27G>T
n.2260-27G>T
c.2165-27G>T (n.2165-27G>T)
 gnomAD v4
12g.51751329G>ACA2575160110SCN8Ac.2132-26G>A (n.2132-26G>A)
c.136-26G>A
n.2260-26G>A
c.2165-26G>A (n.2165-26G>A)
12g.51751330C>ACA2575160111SCN8Ac.2132-25C>A (n.2132-25C>A)
c.136-25C>A
n.2260-25C>A
c.2165-25C>A (n.2165-25C>A)
 gnomAD v4
12g.51751330C>TCA2618840354SCN8Ac.2132-25C>T (n.2132-25C>T)
c.136-25C>T
n.2260-25C>T
c.2165-25C>T (n.2165-25C>T)
 gnomAD v4
12g.51751331C=CA2036195972SCN8Ac.2132-24C= (n.2132-24C=)
c.136-24C=
n.2260-24C=
c.2165-24C= (n.2165-24C=)
12g.51751331C>TCA6571444SCN8Ac.2132-24C>T (n.2132-24C>T)
c.136-24C>T
n.2260-24C>T
c.2165-24C>T (n.2165-24C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51751332A=CA2036195975SCN8Ac.2132-23A= (n.2132-23A=)
c.136-23A=
n.2260-23A=
c.2165-23A= (n.2165-23A=)
12g.51751332A>GCA605238525SCN8Ac.2132-23A>G (n.2132-23A>G)
c.136-23A>G
n.2260-23A>G
c.2165-23A>G (n.2165-23A>G)
 dbSNP gnomAD v2 gnomAD v4
12g.51751334C>ACA689773400SCN8Ac.2132-21C>A (n.2132-21C>A)
c.136-21C>A
n.2260-21C>A
c.2165-21C>A (n.2165-21C>A)
 dbSNP gnomAD v3 gnomAD v4
12g.51751334C=CA2036195981SCN8Ac.2132-21C= (n.2132-21C=)
c.136-21C=
n.2260-21C=
c.2165-21C= (n.2165-21C=)
12g.51751338G>ACA6571445SCN8Ac.2132-17G>A (n.2132-17G>A)
c.136-17G>A
n.2260-17G>A
c.2165-17G>A (n.2165-17G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51751338G>CCA236311179SCN8Ac.2132-17G>C (n.2132-17G>C)
c.136-17G>C
n.2260-17G>C
c.2165-17G>C (n.2165-17G>C)
 dbSNP gnomAD v4
12g.51751338G=CA2036195988SCN8Ac.2132-17G= (n.2132-17G=)
c.136-17G=
n.2260-17G=
c.2165-17G= (n.2165-17G=)
12g.51751340_51751344delinsTCTTACA2036195993SCN8Ac.2132-15_2132-11delinsTCTTA (n.2132-15_2132-11delinsTCTTA)
c.136-15_136-11delinsTCTTA
n.2260-15_2260-11delinsTCTTA
c.2165-15_2165-11delinsTCTTA (n.2165-15_2165-11delinsTCTTA)
12g.51751341delCA2618840355SCN8Ac.2132-14del (n.2132-14del)
c.136-14del
n.2260-14del
c.2165-14del (n.2165-14del)
 gnomAD v4
12g.51751341C>ACA2036196004SCN8Ac.2132-14C>A (n.2132-14C>A)
c.136-14C>A
n.2260-14C>A
c.2165-14C>A (n.2165-14C>A)
 dbSNP gnomAD v4
12g.51751341C=CA2036196002SCN8Ac.2132-14C= (n.2132-14C=)
c.136-14C=
n.2260-14C=
c.2165-14C= (n.2165-14C=)
12g.51751341C>GCA605238526SCN8Ac.2132-14C>G (n.2132-14C>G)
c.136-14C>G
n.2260-14C>G
c.2165-14C>G (n.2165-14C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51751347_51751350delCA155092SCN8Ac.2132-8_2132-5del (n.2132-8_2132-5del)
c.136-8_136-5del
n.2260-8_2260-5del
c.2165-8_2165-5del (n.2165-8_2165-5del)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.51751342T>CCA2036196013SCN8Ac.2132-13T>C (n.2132-13T>C)
c.136-13T>C
n.2260-13T>C
c.2165-13T>C (n.2165-13T>C)
 ClinVar dbSNP
12g.51751342T=CA2036196007SCN8Ac.2132-13T= (n.2132-13T=)
c.136-13T=
n.2260-13T=
c.2165-13T= (n.2165-13T=)
12g.51751343T=CA2036196017SCN8Ac.2132-12T= (n.2132-12T=)
c.136-12T=
n.2260-12T=
c.2165-12T= (n.2165-12T=)
12g.51751344A=CA2036196021SCN8Ac.2132-11A= (n.2132-11A=)
c.136-11A=
n.2260-11A=
c.2165-11A= (n.2165-11A=)
12g.51751344A>CCA2726106159SCN8Ac.2132-11A>C (n.2132-11A>C)
c.136-11A>C
n.2260-11A>C
c.2165-11A>C (n.2165-11A>C)
 dbSNP
12g.51751344A>TCA2036196019SCN8Ac.2132-11A>T (n.2132-11A>T)
c.136-11A>T
n.2260-11A>T
c.2165-11A>T (n.2165-11A>T)
 ClinVar dbSNP
12g.51751344dupCA2036196020SCN8Ac.2132-11dup (n.2132-11dup)
c.136-11dup
n.2260-11dup
c.2165-11dup (n.2165-11dup)
 ClinVar dbSNP
12g.51751345C>ACA2618840356SCN8Ac.2132-10C>A (n.2132-10C>A)
c.136-10C>A
n.2260-10C>A
c.2165-10C>A (n.2165-10C>A)
 gnomAD v4
12g.51751345C>TCA2618840357SCN8Ac.2132-10C>T (n.2132-10C>T)
c.136-10C>T
n.2260-10C>T
c.2165-10C>T (n.2165-10C>T)
 gnomAD v4
12g.51751345_51751347delCA2565097548SCN8Ac.2132-10_2132-8del (n.2132-10_2132-8del)
c.136-10_136-8del
n.2260-10_2260-8del
c.2165-10_2165-8del (n.2165-10_2165-8del)
12g.51751346T>CCA605238527SCN8Ac.2132-9T>C (n.2132-9T>C)
c.136-9T>C
n.2260-9T>C
c.2165-9T>C (n.2165-9T>C)
 dbSNP gnomAD v2 gnomAD v4
12g.51751346T=CA2036196023SCN8Ac.2132-9T= (n.2132-9T=)
c.136-9T=
n.2260-9T=
c.2165-9T= (n.2165-9T=)
12g.51751348A>CCA2618840358SCN8Ac.2132-7A>C (n.2132-7A>C)
c.136-7A>C
n.2260-7A>C
c.2165-7A>C (n.2165-7A>C)
 gnomAD v4
12g.51751349delCA2618840359SCN8Ac.2132-6del (n.2132-6del)
c.136-6del
n.2260-6del
c.2165-6del (n.2165-6del)
 gnomAD v4
12g.51751349C>ACA6571446SCN8Ac.2132-6C>A (n.2132-6C>A)
c.136-6C>A
n.2260-6C>A
c.2165-6C>A (n.2165-6C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51751349C=CA2036196027SCN8Ac.2132-6C= (n.2132-6C=)
c.136-6C=
n.2260-6C=
c.2165-6C= (n.2165-6C=)
12g.51751350T>CCA2580086410SCN8Ac.2132-5T>C (n.2132-5T>C)
c.136-5T>C
n.2260-5T>C
c.2165-5T>C (n.2165-5T>C)
 ClinVar
12g.51751350T>GCA6571447SCN8Ac.2132-5T>G (n.2132-5T>G)
c.136-5T>G
n.2260-5T>G
c.2165-5T>G (n.2165-5T>G)
 dbSNP ExAC gnomAD v2
12g.51751350T=CA2036196031SCN8Ac.2132-5T= (n.2132-5T=)
c.136-5T=
n.2260-5T=
c.2165-5T= (n.2165-5T=)
12g.51751351G>ACA947647001SCN8Ac.2132-4G>A (n.2132-4G>A)
c.136-4G>A
n.2260-4G>A
c.2165-4G>A (n.2165-4G>A)
 dbSNP gnomAD v3 gnomAD v4
12g.51751351G=CA2036196033SCN8Ac.2132-4G= (n.2132-4G=)
c.136-4G=
n.2260-4G=
c.2165-4G= (n.2165-4G=)
12g.51751353A>CCA384879670SCN8Ac.2132-2A>C (n.2132-2A>C)
c.136-2A>C
n.2260-2A>C
c.2165-2A>C (n.2165-2A>C)
12g.51751353A>GCA384879671SCN8Ac.2132-2A>G (n.2132-2A>G)
c.136-2A>G
n.2260-2A>G
c.2165-2A>G (n.2165-2A>G)
12g.51751353A>TCA384879672SCN8Ac.2132-2A>T (n.2132-2A>T)
c.136-2A>T
n.2260-2A>T
c.2165-2A>T (n.2165-2A>T)
12g.51751354G>ACA384879673SCN8Ac.2132-1G>A (n.2132-1G>A)
c.136-1G>A
n.2260-1G>A
c.2165-1G>A (n.2165-1G>A)
 gnomAD v4
12g.51751354G>CCA384879674SCN8Ac.2132-1G>C (n.2132-1G>C)
c.136-1G>C
n.2260-1G>C
c.2165-1G>C (n.2165-1G>C)
12g.51751354G>TCA384879675SCN8Ac.2132-1G>T (n.2132-1G>T)
c.136-1G>T
n.2260-1G>T
c.2165-1G>T (n.2165-1G>T)
12g.51751355A>CCA384879676SCN8Ac.2132A>C (p.Glu711Ala)
c.136A>C
n.2260A>C
c.2165A>C (p.Glu722Ala)
12g.51751355A>GCA384879677SCN8Ac.2132A>G (p.Glu711Gly)
c.136A>G
n.2260A>G
c.2165A>G (p.Glu722Gly)
12g.51751355A>TCA384879678SCN8Ac.2132A>T (p.Glu711Val)
c.136A>T
n.2260A>T
c.2165A>T (p.Glu722Val)
12g.51751356A>CCA384879680SCN8Ac.2133A>C (p.Glu711Asp)
c.137A>C
n.2261A>C
c.2166A>C (p.Glu722Asp)
 gnomAD v4
12g.51751356A>GCA480060897SCN8Ac.2133A>G (p.Glu711=)
c.137A>G
n.2261A>G
c.2166A>G (p.Glu722=)
12g.51751356A>TCA384879679SCN8Ac.2133A>T (p.Glu711Asp)
c.137A>T
n.2261A>T
c.2166A>T (p.Glu722Asp)
12g.51751357C>ACA384879681SCN8Ac.2134C>A (p.Leu712Met)
c.138C>A
n.2262C>A
c.2167C>A (p.Leu723Met)
12g.51751357C>GCA384879682SCN8Ac.2134C>G (p.Leu712Val)
c.138C>G
n.2262C>G
c.2167C>G (p.Leu723Val)
12g.51751357C>TCA480060898SCN8Ac.2134C>T (p.Leu712=)
c.138C>T
n.2262C>T
c.2167C>T (p.Leu723=)
12g.51751358T>ACA384879683SCN8Ac.2135T>A (p.Leu712Gln)
c.139T>A
n.2263T>A
c.2168T>A (p.Leu723Gln)
12g.51751358T>CCA384879685SCN8Ac.2135T>C (p.Leu712Pro)
c.139T>C
n.2263T>C
c.2168T>C (p.Leu723Pro)
12g.51751358T>GCA384879684SCN8Ac.2135T>G (p.Leu712Arg)
c.139T>G
n.2263T>G
c.2168T>G (p.Leu723Arg)
 gnomAD v4
12g.51751359G>ACA480060900SCN8Ac.2136G>A (p.Leu712=)
c.140G>A
n.2264G>A
c.2169G>A (p.Leu723=)
12g.51751359G>CCA480060901SCN8Ac.2136G>C (p.Leu712=)
c.140G>C
n.2264G>C
c.2169G>C (p.Leu723=)
12g.51751359G>TCA480060902SCN8Ac.2136G>T (p.Leu712=)
c.140G>T
n.2264G>T
c.2169G>T (p.Leu723=)
12g.51751360G>ACA384879686SCN8Ac.2137G>A (p.Glu713Lys)
c.141G>A
n.2265G>A
c.2170G>A (p.Glu724Lys)
12g.51751360G>CCA384879687SCN8Ac.2137G>C (p.Glu713Gln)
c.141G>C
n.2265G>C
c.2170G>C (p.Glu724Gln)
 dbSNP gnomAD v4
12g.51751360G=CA2036196037SCN8Ac.2137G= (p.Glu713=)
c.141G=
n.2265G=
c.2170G= (p.Glu724=)
12g.51751360G>TCA384879688SCN8Ac.2137G>T (p.Glu713Ter)
c.141G>T
n.2265G>T
c.2170G>T (p.Glu724Ter)
 dbSNP
12g.51751361A>CCA384879689SCN8Ac.2138A>C (p.Glu713Ala)
c.142A>C
n.2266A>C
c.2171A>C (p.Glu724Ala)
12g.51751361A>GCA384879690SCN8Ac.2138A>G (p.Glu713Gly)
c.142A>G
n.2266A>G
c.2171A>G (p.Glu724Gly)
12g.51751361A>TCA384879691SCN8Ac.2138A>T (p.Glu713Val)
c.142A>T
n.2266A>T
c.2171A>T (p.Glu724Val)
12g.51751362A=CA2036196041SCN8Ac.2139A= (p.Glu713=)
c.143A=
n.2267A=
c.2172A= (p.Glu724=)
12g.51751362A>CCA384879692SCN8Ac.2139A>C (p.Glu713Asp)
c.143A>C
n.2267A>C
c.2172A>C (p.Glu724Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51751362A>GCA480060904SCN8Ac.2139A>G (p.Glu713=)
c.143A>G
n.2267A>G
c.2172A>G (p.Glu724=)
 gnomAD v4
12g.51751362A>TCA384879693SCN8Ac.2139A>T (p.Glu713Asp)
c.143A>T
n.2267A>T
c.2172A>T (p.Glu724Asp)
12g.51751363G>ACA384879694SCN8Ac.2140G>A (p.Glu714Lys)
c.144G>A
n.2268G>A
c.2173G>A (p.Glu725Lys)
12g.51751363G>CCA384879695SCN8Ac.2140G>C (p.Glu714Gln)
c.144G>C
n.2268G>C
c.2173G>C (p.Glu725Gln)
12g.51751363G=CA2036196044SCN8Ac.2140G= (p.Glu714=)
c.144G=
n.2268G=
c.2173G= (p.Glu725=)
12g.51751363G>TCA384879696SCN8Ac.2140G>T (p.Glu714Ter)
c.144G>T
n.2268G>T
c.2173G>T (p.Glu725Ter)
 dbSNP
12g.51751364A>CCA384879697SCN8Ac.2141A>C (p.Glu714Ala)
c.145A>C
n.2269A>C
c.2174A>C (p.Glu725Ala)
12g.51751364A>GCA384879698SCN8Ac.2141A>G (p.Glu714Gly)
c.145A>G
n.2269A>G
c.2174A>G (p.Glu725Gly)
12g.51751364A>TCA384879699SCN8Ac.2141A>T (p.Glu714Val)
c.145A>T
n.2269A>T
c.2174A>T (p.Glu725Val)
12g.51751365G>ACA480060906SCN8Ac.2142G>A (p.Glu714=)
c.146G>A
n.2270G>A
c.2175G>A (p.Glu725=)
 gnomAD v4
12g.51751365G>CCA384879700SCN8Ac.2142G>C (p.Glu714Asp)
c.146G>C
n.2270G>C
c.2175G>C (p.Glu725Asp)
 gnomAD v4
12g.51751365G>TCA384879701SCN8Ac.2142G>T (p.Glu714Asp)
c.146G>T
n.2270G>T
c.2175G>T (p.Glu725Asp)
12g.51751366T>ACA384879702SCN8Ac.2143T>A (p.Ser715Thr)
c.147T>A
n.2271T>A
c.2176T>A (p.Ser726Thr)
12g.51751366T>CCA384879703SCN8Ac.2143T>C (p.Ser715Pro)
c.147T>C
n.2271T>C
c.2176T>C (p.Ser726Pro)
12g.51751366T>GCA384879704SCN8Ac.2143T>G (p.Ser715Ala)
c.147T>G
n.2271T>G
c.2176T>G (p.Ser726Ala)
12g.51751367C>ACA384879705SCN8Ac.2144C>A (p.Ser715Tyr)
c.148C>A
n.2272C>A
c.2177C>A (p.Ser726Tyr)
12g.51751367C=CA2036196048SCN8Ac.2144C= (p.Ser715=)
c.148C=
n.2272C=
c.2177C= (p.Ser726=)
12g.51751367C>GCA384879706SCN8Ac.2144C>G (p.Ser715Cys)
c.148C>G
n.2272C>G
c.2177C>G (p.Ser726Cys)
 dbSNP gnomAD v3 gnomAD v4
12g.51751367C>TCA384879707SCN8Ac.2144C>T (p.Ser715Phe)
c.148C>T
n.2272C>T
c.2177C>T (p.Ser726Phe)
12g.51751368T>ACA480060911SCN8Ac.2145T>A (p.Ser715=)
c.149T>A
n.2273T>A
c.2178T>A (p.Ser726=)
12g.51751368T>CCA480060912SCN8Ac.2145T>C (p.Ser715=)
c.149T>C
n.2273T>C
c.2178T>C (p.Ser726=)
12g.51751368T>GCA480060913SCN8Ac.2145T>G (p.Ser715=)
c.149T>G
n.2273T>G
c.2178T>G (p.Ser726=)
 dbSNP gnomAD v2 gnomAD v4
12g.51751368T=CA2036196067SCN8Ac.2145T= (p.Ser715=)
c.149T=
n.2273T=
c.2178T= (p.Ser726=)
12g.51751369C>ACA384879708SCN8Ac.2146C>A (p.Gln716Lys)
c.150C>A
n.2274C>A
c.2179C>A (p.Gln727Lys)
12g.51751369C=CA2036196070SCN8Ac.2146C= (p.Gln716=)
c.150C=
n.2274C=
c.2179C= (p.Gln727=)
12g.51751369C>GCA384879709SCN8Ac.2146C>G (p.Gln716Glu)
c.150C>G
n.2274C>G
c.2179C>G (p.Gln727Glu)
12g.51751369C>TCA384879710SCN8Ac.2146C>T (p.Gln716Ter)
c.150C>T
n.2274C>T
c.2179C>T (p.Gln727Ter)
 dbSNP
12g.51751370A>CCA384879711SCN8Ac.2147A>C (p.Gln716Pro)
c.151A>C
n.2275A>C
c.2180A>C (p.Gln727Pro)
12g.51751370A>GCA384879712SCN8Ac.2147A>G (p.Gln716Arg)
c.151A>G
n.2275A>G
c.2180A>G (p.Gln727Arg)
12g.51751370A>TCA384879713SCN8Ac.2147A>T (p.Gln716Leu)
c.151A>T
n.2275A>T
c.2180A>T (p.Gln727Leu)
12g.51751371G>ACA480060915SCN8Ac.2148G>A (p.Gln716=)
c.152G>A
n.2276G>A
c.2181G>A (p.Gln727=)
12g.51751371G>CCA384879714SCN8Ac.2148G>C (p.Gln716His)
c.152G>C
n.2276G>C
c.2181G>C (p.Gln727His)
12g.51751371G>TCA384879715SCN8Ac.2148G>T (p.Gln716His)
c.152G>T
n.2276G>T
c.2181G>T (p.Gln727His)
 dbSNP
12g.51751372A=CA2036196074SCN8Ac.2149A= (p.Arg717=)
c.153A=
n.2277A=
c.2182A= (p.Arg728=)
12g.51751372A>CCA480060917SCN8Ac.2149A>C (p.Arg717=)
c.153A>C
n.2277A>C
c.2182A>C (p.Arg728=)
12g.51751372A>GCA384879716SCN8Ac.2149A>G (p.Arg717Gly)
c.153A>G
n.2277A>G
c.2182A>G (p.Arg728Gly)
12g.51751372A>TCA384879717SCN8Ac.2149A>T (p.Arg717Ter)
c.153A>T
n.2277A>T
c.2182A>T (p.Arg728Ter)
 dbSNP
12g.51751373G>ACA384879718SCN8Ac.2150G>A (p.Arg717Lys)
c.154G>A
n.2278G>A
c.2183G>A (p.Arg728Lys)
12g.51751373G>CCA384879719SCN8Ac.2150G>C (p.Arg717Thr)
c.154G>C
n.2278G>C
c.2183G>C (p.Arg728Thr)
12g.51751373G>TCA384879720SCN8Ac.2150G>T (p.Arg717Ile)
c.154G>T
n.2278G>T
c.2183G>T (p.Arg728Ile)
12g.51751374A>CCA384879721SCN8Ac.2151A>C (p.Arg717Ser)
c.155A>C
n.2279A>C
c.2184A>C (p.Arg728Ser)
12g.51751374A>GCA480060918SCN8Ac.2151A>G (p.Arg717=)
c.155A>G
n.2279A>G
c.2184A>G (p.Arg728=)
12g.51751374A>TCA384879722SCN8Ac.2151A>T (p.Arg717Ser)
c.155A>T
n.2279A>T
c.2184A>T (p.Arg728Ser)
12g.51751375A=CA2036196080SCN8Ac.2152A= (p.Lys718=)
c.156A=
n.2280A=
c.2185A= (p.Lys729=)
12g.51751375A>CCA384879723SCN8Ac.2152A>C (p.Lys718Gln)
c.156A>C
n.2280A>C
c.2185A>C (p.Lys729Gln)
12g.51751375A>GCA384879724SCN8Ac.2152A>G (p.Lys718Glu)
c.156A>G
n.2280A>G
c.2185A>G (p.Lys729Glu)
12g.51751375A>TCA384879725SCN8Ac.2152A>T (p.Lys718Ter)
c.156A>T
n.2280A>T
c.2185A>T (p.Lys729Ter)
 dbSNP
12g.51751376A=CA2036196083SCN8Ac.2153A= (p.Lys718=)
c.157A=
n.2281A=
c.2186A= (p.Lys729=)
12g.51751376A>CCA384879726SCN8Ac.2153A>C (p.Lys718Thr)
c.157A>C
n.2281A>C
c.2186A>C (p.Lys729Thr)
12g.51751376A>GCA384879727SCN8Ac.2153A>G (p.Lys718Arg)
c.157A>G
n.2281A>G
c.2186A>G (p.Lys729Arg)
 ClinVar dbSNP gnomAD v2
12g.51751376A>TCA384879728SCN8Ac.2153A>T (p.Lys718Met)
c.157A>T
n.2281A>T
c.2186A>T (p.Lys729Met)
12g.51751377G>ACA6571448SCN8Ac.2154G>A (p.Lys718=)
c.1G>A
c.158G>A
n.2282G>A
c.2187G>A (p.Lys729=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51751377G>CCA384879729SCN8Ac.2154G>C (p.Lys718Asn)
c.1G>C
c.158G>C
n.2282G>C
c.2187G>C (p.Lys729Asn)
12g.51751377G=CA2036196084SCN8Ac.2154G= (p.Lys718=)
c.1G=
c.158G=
n.2282G=
c.2187G= (p.Lys729=)
12g.51751377G>TCA384879730SCN8Ac.2154G>T (p.Lys718Asn)
c.1G>T
c.158G>T
n.2282G>T
c.2187G>T (p.Lys729Asn)
12g.51751378T>ACA384879731SCN8Ac.2155T>A (p.Cys719Ser)
c.2T>A
c.159T>A
n.2283T>A
c.2188T>A (p.Cys730Ser)
12g.51751378T>CCA384879732SCN8Ac.2155T>C (p.Cys719Arg)
c.2T>C
c.159T>C
n.2283T>C
c.2188T>C (p.Cys730Arg)
 gnomAD v4
12g.51751378T>GCA384879733SCN8Ac.2155T>G (p.Cys719Gly)
c.2T>G
c.159T>G
n.2283T>G
c.2188T>G (p.Cys730Gly)
12g.51751379G>ACA384879734SCN8Ac.2156G>A (p.Cys719Tyr)
c.3G>A
c.160G>A
n.2284G>A
c.2189G>A (p.Cys730Tyr)
12g.51751379G>CCA384879735SCN8Ac.2156G>C (p.Cys719Ser)
c.3G>C
c.160G>C
n.2284G>C
c.2189G>C (p.Cys730Ser)
 dbSNP
12g.51751379G=CA2036196088SCN8Ac.2156G= (p.Cys719=)
c.3G=
c.160G=
n.2284G=
c.2189G= (p.Cys730=)
12g.51751379G>TCA384879736SCN8Ac.2156G>T (p.Cys719Phe)
c.3G>T
c.160G>T
n.2284G>T
c.2189G>T (p.Cys730Phe)
12g.51751380C>ACA384879737SCN8Ac.2157C>A (p.Cys719Ter)
c.4C>A
c.161C>A
n.2285C>A
c.2190C>A (p.Cys730Ter)
 dbSNP
12g.51751380C=CA2036196093SCN8Ac.2157C= (p.Cys719=)
c.4C=
c.161C=
n.2285C=
c.2190C= (p.Cys730=)
12g.51751380C>GCA384879738SCN8Ac.2157C>G (p.Cys719Trp)
c.4C>G
c.161C>G
n.2285C>G
c.2190C>G (p.Cys730Trp)
12g.51751380C>TCA236311195SCN8Ac.2157C>T (p.Cys719=)
c.4C>T
c.161C>T
n.2285C>T
c.2190C>T (p.Cys730=)
 dbSNP gnomAD v4
12g.51751381C>ACA384879739SCN8Ac.2158C>A (p.Pro720Thr)
c.5C>A
c.162C>A
n.2286C>A
c.2191C>A (p.Pro731Thr)
 gnomAD v4
12g.51751381C>GCA384879740SCN8Ac.2158C>G (p.Pro720Ala)
c.5C>G
c.162C>G
n.2286C>G
c.2191C>G (p.Pro731Ala)
12g.51751381C>TCA384879741SCN8Ac.2158C>T (p.Pro720Ser)
c.5C>T
c.162C>T
n.2286C>T
c.2191C>T (p.Pro731Ser)
 gnomAD v4
12g.51751382C>ACA384879742SCN8Ac.2159C>A (p.Pro720Gln)
c.6C>A
c.163C>A
n.2287C>A
c.2192C>A (p.Pro731Gln)
12g.51751382C=CA2036196100SCN8Ac.2159C= (p.Pro720=)
c.6C=
c.163C=
n.2287C=
c.2192C= (p.Pro731=)
12g.51751382C>GCA384879743SCN8Ac.2159C>G (p.Pro720Arg)
c.6C>G
c.163C>G
n.2287C>G
c.2192C>G (p.Pro731Arg)
12g.51751382C>TCA6571449SCN8Ac.2159C>T (p.Pro720Leu)
c.6C>T
c.163C>T
n.2287C>T
c.2192C>T (p.Pro731Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51751383G>ACA236311202SCN8Ac.2160G>A (p.Pro720=)
c.7G>A
c.164G>A
n.2288G>A
c.2193G>A (p.Pro731=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51751383G>CCA480060920SCN8Ac.2160G>C (p.Pro720=)
c.7G>C
c.164G>C
n.2288G>C
c.2193G>C (p.Pro731=)
12g.51751383G=CA2036196110SCN8Ac.2160G= (p.Pro720=)
c.7G=
c.164G=
n.2288G=
c.2193G= (p.Pro731=)
12g.51751383G>TCA480060919SCN8Ac.2160G>T (p.Pro720=)
c.7G>T
c.164G>T
n.2288G>T
c.2193G>T (p.Pro731=)
 gnomAD v4
12g.51751384C>ACA384879744SCN8Ac.2161C>A (p.Pro721Thr)
c.8C>A
c.165C>A
n.2289C>A
c.2194C>A (p.Pro732Thr)
12g.51751384C>GCA384879746SCN8Ac.2161C>G (p.Pro721Ala)
c.8C>G
c.165C>G
n.2289C>G
c.2194C>G (p.Pro732Ala)
12g.51751384C>TCA384879745SCN8Ac.2161C>T (p.Pro721Ser)
c.8C>T
c.165C>T
n.2289C>T
c.2194C>T (p.Pro732Ser)
12g.51751385C>ACA384879747SCN8Ac.2162C>A (p.Pro721Gln)
c.9C>A
c.166C>A
n.2290C>A
c.2195C>A (p.Pro732Gln)
12g.51751385C=CA2036196115SCN8Ac.2162C= (p.Pro721=)
c.9C=
c.166C=
n.2290C=
c.2195C= (p.Pro732=)
12g.51751385C>GCA384879748SCN8Ac.2162C>G (p.Pro721Arg)
c.9C>G
c.166C>G
n.2290C>G
c.2195C>G (p.Pro732Arg)
12g.51751385C>TCA384879749SCN8Ac.2162C>T (p.Pro721Leu)
c.9C>T
c.166C>T
n.2290C>T
c.2195C>T (p.Pro732Leu)
 dbSNP gnomAD v2
12g.51751386A=CA2036196116SCN8Ac.2163A= (p.Pro721=)
c.10A=
c.167A=
n.2291A=
c.2196A= (p.Pro732=)
12g.51751386A>CCA480060921SCN8Ac.2163A>C (p.Pro721=)
c.10A>C
c.167A>C
n.2291A>C
c.2196A>C (p.Pro732=)
12g.51751386A>GCA480060922SCN8Ac.2163A>G (p.Pro721=)
c.10A>G
c.167A>G
n.2291A>G
c.2196A>G (p.Pro732=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51751386A>TCA480060923SCN8Ac.2163A>T (p.Pro721=)
c.10A>T
c.167A>T
n.2291A>T
c.2196A>T (p.Pro732=)
12g.51751387T>ACA384879750SCN8Ac.2164T>A (p.Cys722Ser)
c.11T>A
c.168T>A
n.2292T>A
c.2197T>A (p.Cys733Ser)
12g.51751387T>CCA384879751SCN8Ac.2164T>C (p.Cys722Arg)
c.11T>C
c.168T>C
n.2292T>C
c.2197T>C (p.Cys733Arg)
12g.51751387T>GCA384879752SCN8Ac.2164T>G (p.Cys722Gly)
c.11T>G
c.168T>G
n.2292T>G
c.2197T>G (p.Cys733Gly)
12g.51751388G>ACA384879753SCN8Ac.2165G>A (p.Cys722Tyr)
c.12G>A
c.169G>A
n.2293G>A
c.2198G>A (p.Cys733Tyr)
12g.51751388G>CCA384879754SCN8Ac.2165G>C (p.Cys722Ser)
c.12G>C
c.169G>C
n.2293G>C
c.2198G>C (p.Cys733Ser)
12g.51751388G>TCA384879755SCN8Ac.2165G>T (p.Cys722Phe)
c.12G>T
c.169G>T
n.2293G>T
c.2198G>T (p.Cys733Phe)
12g.51751389C>ACA384879756SCN8Ac.2166C>A (p.Cys722Ter)
c.13C>A
c.170C>A
n.2294C>A
c.2199C>A (p.Cys733Ter)
 dbSNP
12g.51751389C=CA2036196124SCN8Ac.2166C= (p.Cys722=)
c.13C=
c.170C=
n.2294C=
c.2199C= (p.Cys733=)
12g.51751389C>GCA384879757SCN8Ac.2166C>G (p.Cys722Trp)
c.13C>G
c.170C>G
n.2294C>G
c.2199C>G (p.Cys733Trp)
 ClinVar dbSNP
12g.51751389C>TCA480060924SCN8Ac.2166C>T (p.Cys722=)
c.13C>T
c.170C>T
n.2294C>T
c.2199C>T (p.Cys733=)
12g.51751390T>ACA384879760SCN8Ac.2167T>A (p.Trp723Arg)
c.14T>A
c.171T>A
n.2295T>A
c.2200T>A (p.Trp734Arg)
12g.51751390T>CCA384879759SCN8Ac.2167T>C (p.Trp723Arg)
c.14T>C
c.171T>C
n.2295T>C
c.2200T>C (p.Trp734Arg)
 dbSNP gnomAD v2 gnomAD v4
12g.51751390T>GCA384879758SCN8Ac.2167T>G (p.Trp723Gly)
c.14T>G
c.171T>G
n.2295T>G
c.2200T>G (p.Trp734Gly)
 ClinVar
12g.51751390T=CA2036196127SCN8Ac.2167T= (p.Trp723=)
c.14T=
c.171T=
n.2295T=
c.2200T= (p.Trp734=)
12g.51751391G>ACA384879761SCN8Ac.2168G>A (p.Trp723Ter)
c.15G>A
c.172G>A
n.2296G>A
c.2201G>A (p.Trp734Ter)
12g.51751391G>CCA384879762SCN8Ac.2168G>C (p.Trp723Ser)
c.15G>C
c.172G>C
n.2296G>C
c.2201G>C (p.Trp734Ser)
12g.51751391G>TCA384879763SCN8Ac.2168G>T (p.Trp723Leu)
c.15G>T
c.172G>T
n.2296G>T
c.2201G>T (p.Trp734Leu)
 gnomAD v4
12g.51751392G>ACA384879764SCN8Ac.2169G>A (p.Trp723Ter)
c.16G>A
c.173G>A
n.2297G>A
c.2202G>A (p.Trp734Ter)
 ClinVar dbSNP
12g.51751392G>CCA384879765SCN8Ac.2169G>C (p.Trp723Cys)
c.16G>C
c.173G>C
n.2297G>C
c.2202G>C (p.Trp734Cys)
12g.51751392G=CA2036196131SCN8Ac.2169G= (p.Trp723=)
c.16G=
c.173G=
n.2297G=
c.2202G= (p.Trp734=)
12g.51751392G>TCA384879766SCN8Ac.2169G>T (p.Trp723Cys)
c.16G>T
c.173G>T
n.2297G>T
c.2202G>T (p.Trp734Cys)
12g.51751393T>ACA384879767SCN8Ac.2170T>A (p.Tyr724Asn)
c.17T>A
c.174T>A
n.2298T>A
c.2203T>A (p.Tyr735Asn)
12g.51751393T>CCA384879768SCN8Ac.2170T>C (p.Tyr724His)
c.17T>C
c.174T>C
n.2298T>C
c.2203T>C (p.Tyr735His)
12g.51751393T>GCA384879769SCN8Ac.2170T>G (p.Tyr724Asp)
c.17T>G
c.174T>G
n.2298T>G
c.2203T>G (p.Tyr735Asp)
12g.51751394A=CA2036196135SCN8Ac.2171A= (p.Tyr724=)
c.18A=
c.175A=
n.2299A=
c.2204A= (p.Tyr735=)
12g.51751394A>CCA384879770SCN8Ac.2171A>C (p.Tyr724Ser)
c.18A>C
c.175A>C
n.2299A>C
c.2204A>C (p.Tyr735Ser)
12g.51751394A>GCA384879771SCN8Ac.2171A>G (p.Tyr724Cys)
c.18A>G
c.175A>G
n.2299A>G
c.2204A>G (p.Tyr735Cys)
 ClinVar dbSNP gnomAD v4
12g.51751394A>TCA384879772SCN8Ac.2171A>T (p.Tyr724Phe)
c.18A>T
c.175A>T
n.2299A>T
c.2204A>T (p.Tyr735Phe)
12g.51751395T>ACA384879773SCN8Ac.2172T>A (p.Tyr724Ter)
c.19T>A
c.176T>A
n.2300T>A
c.2205T>A (p.Tyr735Ter)
12g.51751395T>CCA480060925SCN8Ac.2172T>C (p.Tyr724=)
c.19T>C
c.176T>C
n.2300T>C
c.2205T>C (p.Tyr735=)
12g.51751395T>GCA384879774SCN8Ac.2172T>G (p.Tyr724Ter)
c.19T>G
c.176T>G
n.2300T>G
c.2205T>G (p.Tyr735Ter)
12g.51751396A=CA2036196139SCN8Ac.2173A= (p.Lys725=)
c.20A=
c.177A=
n.2301A=
c.2206A= (p.Lys736=)
12g.51751396A>CCA384879775SCN8Ac.2173A>C (p.Lys725Gln)
c.20A>C
c.177A>C
n.2301A>C
c.2206A>C (p.Lys736Gln)
12g.51751396A>GCA6571450SCN8Ac.2173A>G (p.Lys725Glu)
c.20A>G
c.177A>G
n.2301A>G
c.2206A>G (p.Lys736Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51751396A>TCA384879776SCN8Ac.2173A>T (p.Lys725Ter)
c.20A>T
c.177A>T
n.2301A>T
c.2206A>T (p.Lys736Ter)
 dbSNP
12g.51751397A=CA2036196143SCN8Ac.2174A= (p.Lys725=)
c.21A=
c.178A=
n.2302A=
c.2207A= (p.Lys736=)
12g.51751397A>CCA384879777SCN8Ac.2174A>C (p.Lys725Thr)
c.21A>C
c.178A>C
n.2302A>C
c.2207A>C (p.Lys736Thr)
12g.51751397A>GCA384879778SCN8Ac.2174A>G (p.Lys725Arg)
c.21A>G
c.178A>G
n.2302A>G
c.2207A>G (p.Lys736Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51751397A>TCA384879779SCN8Ac.2174A>T (p.Lys725Ile)
c.21A>T
c.178A>T
n.2302A>T
c.2207A>T (p.Lys736Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.51751398A>CCA384879780SCN8Ac.2175A>C (p.Lys725Asn)
c.22A>C
c.179A>C
n.2303A>C
c.2208A>C (p.Lys736Asn)
12g.51751398A>GCA480060926SCN8Ac.2175A>G (p.Lys725=)
c.22A>G
c.179A>G
n.2303A>G
c.2208A>G (p.Lys736=)
12g.51751398A>TCA384879781SCN8Ac.2175A>T (p.Lys725Asn)
c.22A>T
c.179A>T
n.2303A>T
c.2208A>T (p.Lys736Asn)
12g.51751399T>ACA384879782SCN8Ac.2176T>A (p.Phe726Ile)
c.23T>A
c.180T>A
n.2304T>A
c.2209T>A (p.Phe737Ile)
12g.51751399T>CCA384879783SCN8Ac.2176T>C (p.Phe726Leu)
c.23T>C
c.180T>C
n.2304T>C
c.2209T>C (p.Phe737Leu)
12g.51751399T>GCA384879784SCN8Ac.2176T>G (p.Phe726Val)
c.23T>G
c.180T>G
n.2304T>G
c.2209T>G (p.Phe737Val)
12g.51751400T>ACA384879785SCN8Ac.2177T>A (p.Phe726Tyr)
c.24T>A
c.181T>A
n.2305T>A
c.2210T>A (p.Phe737Tyr)
12g.51751400T>CCA384879786SCN8Ac.2177T>C (p.Phe726Ser)
c.24T>C
c.181T>C
n.2305T>C
c.2210T>C (p.Phe737Ser)
12g.51751400T>GCA384879787SCN8Ac.2177T>G (p.Phe726Cys)
c.24T>G
c.181T>G
n.2305T>G
c.2210T>G (p.Phe737Cys)
12g.51751401T>ACA384879788SCN8Ac.2178T>A (p.Phe726Leu)
c.25T>A
c.182T>A
n.2306T>A
c.2211T>A (p.Phe737Leu)
12g.51751401T>CCA480060927SCN8Ac.2178T>C (p.Phe726=)
c.25T>C
c.182T>C
n.2306T>C
c.2211T>C (p.Phe737=)
12g.51751401T>GCA384879789SCN8Ac.2178T>G (p.Phe726Leu)
c.25T>G
c.182T>G
n.2306T>G
c.2211T>G (p.Phe737Leu)
12g.51751402G>ACA384879790SCN8Ac.2179G>A (p.Ala727Thr)
c.26G>A
c.183G>A
n.2307G>A
c.2212G>A (p.Ala738Thr)
12g.51751402G>CCA384879791SCN8Ac.2179G>C (p.Ala727Pro)
c.26G>C
c.183G>C
n.2307G>C
c.2212G>C (p.Ala738Pro)
12g.51751402G>TCA384879792SCN8Ac.2179G>T (p.Ala727Ser)
c.26G>T
c.183G>T
n.2307G>T
c.2212G>T (p.Ala738Ser)
12g.51751403C>ACA384879793SCN8Ac.2180C>A (p.Ala727Asp)
c.27C>A
c.184C>A
n.2308C>A
c.2213C>A (p.Ala738Asp)
12g.51751403C>GCA384879794SCN8Ac.2180C>G (p.Ala727Gly)
c.27C>G
c.184C>G
n.2308C>G
c.2213C>G (p.Ala738Gly)
12g.51751403C>TCA384879795SCN8Ac.2180C>T (p.Ala727Val)
c.27C>T
c.184C>T
n.2308C>T
c.2213C>T (p.Ala738Val)
12g.51751404C>ACA480060928SCN8Ac.2181C>A (p.Ala727=)
c.28C>A
c.185C>A
n.2309C>A
c.2214C>A (p.Ala738=)
12g.51751404C>GCA480060929SCN8Ac.2181C>G (p.Ala727=)
c.28C>G
c.185C>G
n.2309C>G
c.2214C>G (p.Ala738=)
 gnomAD v4
12g.51751404C>TCA480060930SCN8Ac.2181C>T (p.Ala727=)
c.28C>T
c.185C>T
n.2309C>T
c.2214C>T (p.Ala738=)

Number of alleles fetched