Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.154772376A=CA1139853293KCNN3c.1047T= (p.Asn349=)
c.108T= (p.Asn36=)
c.132T= (p.Asn44=)
1g.154772376A>CCA343067353KCNN3c.1047T>G (p.Asn349Lys)
c.108T>G (p.Asn36Lys)
c.132T>G (p.Asn44Lys)
1g.154772376A>GCA1132141KCNN3c.1047T>C (p.Asn349=)
c.108T>C (p.Asn36=)
c.132T>C (p.Asn44=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.154772376A>TCA343067354KCNN3c.1047T>A (p.Asn349Lys)
c.108T>A (p.Asn36Lys)
c.132T>A (p.Asn44Lys)
1g.154772377T>ACA343067355KCNN3c.1046A>T (p.Asn349Ile)
c.107A>T (p.Asn36Ile)
c.131A>T (p.Asn44Ile)
1g.154772377T>CCA1132142KCNN3c.1046A>G (p.Asn349Ser)
c.107A>G (p.Asn36Ser)
c.131A>G (p.Asn44Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.154772377T>GCA343067356KCNN3c.1046A>C (p.Asn349Thr)
c.107A>C (p.Asn36Thr)
c.131A>C (p.Asn44Thr)
1g.154772377T=CA2481009340KCNN3c.1046A= (p.Asn349=)
c.107A= (p.Asn36=)
c.131A= (p.Asn44=)
1g.154772378T>ACA343067359KCNN3c.1045A>T (p.Asn349Tyr)
c.106A>T (p.Asn36Tyr)
c.130A>T (p.Asn44Tyr)
1g.154772378T>CCA343067358KCNN3c.1045A>G (p.Asn349Asp)
c.106A>G (p.Asn36Asp)
c.130A>G (p.Asn44Asp)
1g.154772378T>GCA343067357KCNN3c.1045A>C (p.Asn349His)
c.106A>C (p.Asn36His)
c.130A>C (p.Asn44His)
1g.154772379G>ACA421286136KCNN3c.1044C>T (p.Asp348=)
c.105C>T (p.Asp35=)
c.129C>T (p.Asp43=)
1g.154772379G>CCA343067360KCNN3c.1044C>G (p.Asp348Glu)
c.105C>G (p.Asp35Glu)
c.129C>G (p.Asp43Glu)
1g.154772379G>TCA343067361KCNN3c.1044C>A (p.Asp348Glu)
c.105C>A (p.Asp35Glu)
c.129C>A (p.Asp43Glu)
1g.154772380T>ACA343067362KCNN3c.1043A>T (p.Asp348Val)
c.104A>T (p.Asp35Val)
c.128A>T (p.Asp43Val)
1g.154772380T>CCA343067364KCNN3c.1043A>G (p.Asp348Gly)
c.104A>G (p.Asp35Gly)
c.128A>G (p.Asp43Gly)
1g.154772380T>GCA343067363KCNN3c.1043A>C (p.Asp348Ala)
c.104A>C (p.Asp35Ala)
c.128A>C (p.Asp43Ala)
1g.154772381C>ACA343067365KCNN3c.1042G>T (p.Asp348Tyr)
c.103G>T (p.Asp35Tyr)
c.127G>T (p.Asp43Tyr)
1g.154772381C=CA2481009341KCNN3c.1042G= (p.Asp348=)
c.103G= (p.Asp35=)
c.127G= (p.Asp43=)
1g.154772381C>GCA343067367KCNN3c.1042G>C (p.Asp348His)
c.103G>C (p.Asp35His)
c.127G>C (p.Asp43His)
1g.154772381C>TCA343067366KCNN3c.1042G>A (p.Asp348Asn)
c.103G>A (p.Asp35Asn)
c.127G>A (p.Asp43Asn)
dbSNP gnomAD v2 gnomAD v4
1g.154772382G>ACA1132143KCNN3c.1041C>T (p.Ile347=)
c.102C>T (p.Ile34=)
c.126C>T (p.Ile42=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.154772382G>CCA343067368KCNN3c.1041C>G (p.Ile347Met)
c.102C>G (p.Ile34Met)
c.126C>G (p.Ile42Met)
1g.154772382G=CA2481009342KCNN3c.1041C= (p.Ile347=)
c.102C= (p.Ile34=)
c.126C= (p.Ile42=)
1g.154772382G>TCA421286137KCNN3c.1041C>A (p.Ile347=)
c.102C>A (p.Ile34=)
c.126C>A (p.Ile42=)
dbSNP
1g.154772383A>CCA343067369KCNN3c.1040T>G (p.Ile347Ser)
c.101T>G (p.Ile34Ser)
c.125T>G (p.Ile42Ser)
1g.154772383A>GCA343067370KCNN3c.1040T>C (p.Ile347Thr)
c.101T>C (p.Ile34Thr)
c.125T>C (p.Ile42Thr)
1g.154772383A>TCA343067371KCNN3c.1040T>A (p.Ile347Asn)
c.101T>A (p.Ile34Asn)
c.125T>A (p.Ile42Asn)
1g.154772384T>ACA343067372KCNN3c.1039A>T (p.Ile347Phe)
c.100A>T (p.Ile34Phe)
c.124A>T (p.Ile42Phe)
1g.154772384T>CCA343067373KCNN3c.1039A>G (p.Ile347Val)
c.100A>G (p.Ile34Val)
c.124A>G (p.Ile42Val)
1g.154772384T>GCA343067374KCNN3c.1039A>C (p.Ile347Leu)
c.100A>C (p.Ile34Leu)
c.124A>C (p.Ile42Leu)
1g.154772385C>ACA421286141KCNN3c.1038G>T (p.Val346=)
c.99G>T (p.Val33=)
c.123G>T (p.Val41=)
1g.154772385C>GCA421286143KCNN3c.1038G>C (p.Val346=)
c.99G>C (p.Val33=)
c.123G>C (p.Val41=)
1g.154772385C>TCA421286142KCNN3c.1038G>A (p.Val346=)
c.99G>A (p.Val33=)
c.123G>A (p.Val41=)
1g.154772386A>CCA343067375KCNN3c.1037T>G (p.Val346Gly)
c.98T>G (p.Val33Gly)
c.122T>G (p.Val41Gly)
1g.154772386A>GCA343067376KCNN3c.1037T>C (p.Val346Ala)
c.98T>C (p.Val33Ala)
c.122T>C (p.Val41Ala)
gnomAD v4
1g.154772386A>TCA343067377KCNN3c.1037T>A (p.Val346Glu)
c.98T>A (p.Val33Glu)
c.122T>A (p.Val41Glu)
1g.154772387C>ACA343067378KCNN3c.1036G>T (p.Val346Leu)
c.97G>T (p.Val33Leu)
c.121G>T (p.Val41Leu)
1g.154772387C=CA2481009343KCNN3c.1036G= (p.Val346=)
c.97G= (p.Val33=)
c.121G= (p.Val41=)
1g.154772387C>GCA343067379KCNN3c.1036G>C (p.Val346Leu)
c.97G>C (p.Val33Leu)
c.121G>C (p.Val41Leu)
dbSNP
1g.154772387C>TCA343067380KCNN3c.1036G>A (p.Val346Met)
c.97G>A (p.Val33Met)
c.121G>A (p.Val41Met)
dbSNP gnomAD v4
1g.154772388G>ACA1132144KCNN3c.1035C>T (p.Phe345=)
c.96C>T (p.Phe32=)
c.120C>T (p.Phe40=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.154772388G>CCA343067382KCNN3c.1035C>G (p.Phe345Leu)
c.96C>G (p.Phe32Leu)
c.120C>G (p.Phe40Leu)
1g.154772388G=CA1141744110KCNN3c.1035C= (p.Phe345=)
c.96C= (p.Phe32=)
c.120C= (p.Phe40=)
1g.154772388G>TCA343067381KCNN3c.1035C>A (p.Phe345Leu)
c.96C>A (p.Phe32Leu)
c.120C>A (p.Phe40Leu)
1g.154772389A>CCA343067383KCNN3c.1034T>G (p.Phe345Cys)
c.95T>G (p.Phe32Cys)
c.119T>G (p.Phe40Cys)
1g.154772389A>GCA343067384KCNN3c.1034T>C (p.Phe345Ser)
c.95T>C (p.Phe32Ser)
c.119T>C (p.Phe40Ser)
1g.154772389A>TCA343067385KCNN3c.1034T>A (p.Phe345Tyr)
c.95T>A (p.Phe32Tyr)
c.119T>A (p.Phe40Tyr)
1g.154772390A>CCA343067386KCNN3c.1033T>G (p.Phe345Val)
c.94T>G (p.Phe32Val)
c.118T>G (p.Phe40Val)
1g.154772390A>GCA343067387KCNN3c.1033T>C (p.Phe345Leu)
c.94T>C (p.Phe32Leu)
c.118T>C (p.Phe40Leu)

Number of alleles fetched