Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.154772376A= | CA1139853293 | KCNN3 | c.1047T= (p.Asn349=) c.108T= (p.Asn36=) c.132T= (p.Asn44=) | |
1 | g.154772376A>C | CA343067353 | KCNN3 | c.1047T>G (p.Asn349Lys) c.108T>G (p.Asn36Lys) c.132T>G (p.Asn44Lys) | |
1 | g.154772376A>G | CA1132141 | KCNN3 | c.1047T>C (p.Asn349=) c.108T>C (p.Asn36=) c.132T>C (p.Asn44=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154772376A>T | CA343067354 | KCNN3 | c.1047T>A (p.Asn349Lys) c.108T>A (p.Asn36Lys) c.132T>A (p.Asn44Lys) | |
1 | g.154772377T>A | CA343067355 | KCNN3 | c.1046A>T (p.Asn349Ile) c.107A>T (p.Asn36Ile) c.131A>T (p.Asn44Ile) | |
1 | g.154772377T>C | CA1132142 | KCNN3 | c.1046A>G (p.Asn349Ser) c.107A>G (p.Asn36Ser) c.131A>G (p.Asn44Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.154772377T>G | CA343067356 | KCNN3 | c.1046A>C (p.Asn349Thr) c.107A>C (p.Asn36Thr) c.131A>C (p.Asn44Thr) | |
1 | g.154772377T= | CA2481009340 | KCNN3 | c.1046A= (p.Asn349=) c.107A= (p.Asn36=) c.131A= (p.Asn44=) | |
1 | g.154772378T>A | CA343067359 | KCNN3 | c.1045A>T (p.Asn349Tyr) c.106A>T (p.Asn36Tyr) c.130A>T (p.Asn44Tyr) | |
1 | g.154772378T>C | CA343067358 | KCNN3 | c.1045A>G (p.Asn349Asp) c.106A>G (p.Asn36Asp) c.130A>G (p.Asn44Asp) | |
1 | g.154772378T>G | CA343067357 | KCNN3 | c.1045A>C (p.Asn349His) c.106A>C (p.Asn36His) c.130A>C (p.Asn44His) | |
1 | g.154772379G>A | CA421286136 | KCNN3 | c.1044C>T (p.Asp348=) c.105C>T (p.Asp35=) c.129C>T (p.Asp43=) | |
1 | g.154772379G>C | CA343067360 | KCNN3 | c.1044C>G (p.Asp348Glu) c.105C>G (p.Asp35Glu) c.129C>G (p.Asp43Glu) | |
1 | g.154772379G>T | CA343067361 | KCNN3 | c.1044C>A (p.Asp348Glu) c.105C>A (p.Asp35Glu) c.129C>A (p.Asp43Glu) | |
1 | g.154772380T>A | CA343067362 | KCNN3 | c.1043A>T (p.Asp348Val) c.104A>T (p.Asp35Val) c.128A>T (p.Asp43Val) | |
1 | g.154772380T>C | CA343067364 | KCNN3 | c.1043A>G (p.Asp348Gly) c.104A>G (p.Asp35Gly) c.128A>G (p.Asp43Gly) | |
1 | g.154772380T>G | CA343067363 | KCNN3 | c.1043A>C (p.Asp348Ala) c.104A>C (p.Asp35Ala) c.128A>C (p.Asp43Ala) | |
1 | g.154772381C>A | CA343067365 | KCNN3 | c.1042G>T (p.Asp348Tyr) c.103G>T (p.Asp35Tyr) c.127G>T (p.Asp43Tyr) | |
1 | g.154772381C= | CA2481009341 | KCNN3 | c.1042G= (p.Asp348=) c.103G= (p.Asp35=) c.127G= (p.Asp43=) | |
1 | g.154772381C>G | CA343067367 | KCNN3 | c.1042G>C (p.Asp348His) c.103G>C (p.Asp35His) c.127G>C (p.Asp43His) | |
1 | g.154772381C>T | CA343067366 | KCNN3 | c.1042G>A (p.Asp348Asn) c.103G>A (p.Asp35Asn) c.127G>A (p.Asp43Asn) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.154772382G>A | CA1132143 | KCNN3 | c.1041C>T (p.Ile347=) c.102C>T (p.Ile34=) c.126C>T (p.Ile42=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.154772382G>C | CA343067368 | KCNN3 | c.1041C>G (p.Ile347Met) c.102C>G (p.Ile34Met) c.126C>G (p.Ile42Met) | |
1 | g.154772382G= | CA2481009342 | KCNN3 | c.1041C= (p.Ile347=) c.102C= (p.Ile34=) c.126C= (p.Ile42=) | |
1 | g.154772382G>T | CA421286137 | KCNN3 | c.1041C>A (p.Ile347=) c.102C>A (p.Ile34=) c.126C>A (p.Ile42=) | dbSNP |
1 | g.154772383A>C | CA343067369 | KCNN3 | c.1040T>G (p.Ile347Ser) c.101T>G (p.Ile34Ser) c.125T>G (p.Ile42Ser) | |
1 | g.154772383A>G | CA343067370 | KCNN3 | c.1040T>C (p.Ile347Thr) c.101T>C (p.Ile34Thr) c.125T>C (p.Ile42Thr) | |
1 | g.154772383A>T | CA343067371 | KCNN3 | c.1040T>A (p.Ile347Asn) c.101T>A (p.Ile34Asn) c.125T>A (p.Ile42Asn) | |
1 | g.154772384T>A | CA343067372 | KCNN3 | c.1039A>T (p.Ile347Phe) c.100A>T (p.Ile34Phe) c.124A>T (p.Ile42Phe) | |
1 | g.154772384T>C | CA343067373 | KCNN3 | c.1039A>G (p.Ile347Val) c.100A>G (p.Ile34Val) c.124A>G (p.Ile42Val) | |
1 | g.154772384T>G | CA343067374 | KCNN3 | c.1039A>C (p.Ile347Leu) c.100A>C (p.Ile34Leu) c.124A>C (p.Ile42Leu) | |
1 | g.154772385C>A | CA421286141 | KCNN3 | c.1038G>T (p.Val346=) c.99G>T (p.Val33=) c.123G>T (p.Val41=) | |
1 | g.154772385C>G | CA421286143 | KCNN3 | c.1038G>C (p.Val346=) c.99G>C (p.Val33=) c.123G>C (p.Val41=) | |
1 | g.154772385C>T | CA421286142 | KCNN3 | c.1038G>A (p.Val346=) c.99G>A (p.Val33=) c.123G>A (p.Val41=) | |
1 | g.154772386A>C | CA343067375 | KCNN3 | c.1037T>G (p.Val346Gly) c.98T>G (p.Val33Gly) c.122T>G (p.Val41Gly) | |
1 | g.154772386A>G | CA343067376 | KCNN3 | c.1037T>C (p.Val346Ala) c.98T>C (p.Val33Ala) c.122T>C (p.Val41Ala) | gnomAD v4 |
1 | g.154772386A>T | CA343067377 | KCNN3 | c.1037T>A (p.Val346Glu) c.98T>A (p.Val33Glu) c.122T>A (p.Val41Glu) | |
1 | g.154772387C>A | CA343067378 | KCNN3 | c.1036G>T (p.Val346Leu) c.97G>T (p.Val33Leu) c.121G>T (p.Val41Leu) | |
1 | g.154772387C= | CA2481009343 | KCNN3 | c.1036G= (p.Val346=) c.97G= (p.Val33=) c.121G= (p.Val41=) | |
1 | g.154772387C>G | CA343067379 | KCNN3 | c.1036G>C (p.Val346Leu) c.97G>C (p.Val33Leu) c.121G>C (p.Val41Leu) | dbSNP |
1 | g.154772387C>T | CA343067380 | KCNN3 | c.1036G>A (p.Val346Met) c.97G>A (p.Val33Met) c.121G>A (p.Val41Met) | dbSNP gnomAD v4 |
1 | g.154772388G>A | CA1132144 | KCNN3 | c.1035C>T (p.Phe345=) c.96C>T (p.Phe32=) c.120C>T (p.Phe40=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154772388G>C | CA343067382 | KCNN3 | c.1035C>G (p.Phe345Leu) c.96C>G (p.Phe32Leu) c.120C>G (p.Phe40Leu) | |
1 | g.154772388G= | CA1141744110 | KCNN3 | c.1035C= (p.Phe345=) c.96C= (p.Phe32=) c.120C= (p.Phe40=) | |
1 | g.154772388G>T | CA343067381 | KCNN3 | c.1035C>A (p.Phe345Leu) c.96C>A (p.Phe32Leu) c.120C>A (p.Phe40Leu) | |
1 | g.154772389A>C | CA343067383 | KCNN3 | c.1034T>G (p.Phe345Cys) c.95T>G (p.Phe32Cys) c.119T>G (p.Phe40Cys) | |
1 | g.154772389A>G | CA343067384 | KCNN3 | c.1034T>C (p.Phe345Ser) c.95T>C (p.Phe32Ser) c.119T>C (p.Phe40Ser) | |
1 | g.154772389A>T | CA343067385 | KCNN3 | c.1034T>A (p.Phe345Tyr) c.95T>A (p.Phe32Tyr) c.119T>A (p.Phe40Tyr) | |
1 | g.154772390A>C | CA343067386 | KCNN3 | c.1033T>G (p.Phe345Val) c.94T>G (p.Phe32Val) c.118T>G (p.Phe40Val) | |
1 | g.154772390A>G | CA343067387 | KCNN3 | c.1033T>C (p.Phe345Leu) c.94T>C (p.Phe32Leu) c.118T>C (p.Phe40Leu) |