Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.56863765_56872392del | CA1139664706 | ClinVar | ||
16 | g.56865459_56865473del | CA2633368872 | SLC12A3 | c.224_238del (p.Gln75_Pro79del) | gnomAD v4 |
16 | g.56865460G>A | CA495787845 | SLC12A3 | c.225G>A (p.Gln75=) | |
16 | g.56865460G>C | CA395977448 | SLC12A3 | c.225G>C (p.Gln75His) | |
16 | g.56865460G>T | CA395977447 | SLC12A3 | c.225G>T (p.Gln75His) | |
16 | g.56865461C>A | CA395977449 | SLC12A3 | c.226C>A (p.Pro76Thr) | dbSNP |
16 | g.56865461C= | CA2224346992 | SLC12A3 | c.226C= (p.Pro76=) | |
16 | g.56865461C>G | CA395977452 | SLC12A3 | c.226C>G (p.Pro76Ala) | |
16 | g.56865461C>T | CA395977455 | SLC12A3 | c.226C>T (p.Pro76Ser) | |
16 | g.56865462C>A | CA395977459 | SLC12A3 | c.227C>A (p.Pro76His) | |
16 | g.56865462C= | CA2224346993 | SLC12A3 | c.227C= (p.Pro76=) | |
16 | g.56865462C>G | CA395977462 | SLC12A3 | c.227C>G (p.Pro76Arg) | |
16 | g.56865462C>T | CA395977465 | SLC12A3 | c.227C>T (p.Pro76Leu) | dbSNP gnomAD v4 |
16 | g.56865463T>A | CA495787846 | SLC12A3 | c.228T>A (p.Pro76=) | |
16 | g.56865463T>C | CA495787847 | SLC12A3 | c.228T>C (p.Pro76=) | |
16 | g.56865463T>G | CA495787848 | SLC12A3 | c.228T>G (p.Pro76=) | |
16 | g.56865464G>A | CA395977469 | SLC12A3 | c.229G>A (p.Gly77Ser) | dbSNP gnomAD v2 |
16 | g.56865464G>C | CA395977472 | SLC12A3 | c.229G>C (p.Gly77Arg) | |
16 | g.56865464G= | CA2224346994 | SLC12A3 | c.229G= (p.Gly77=) | |
16 | g.56865464G>T | CA395977476 | SLC12A3 | c.229G>T (p.Gly77Cys) | |
16 | g.56865465G>A | CA395977481 | SLC12A3 | c.230G>A (p.Gly77Asp) | gnomAD v4 |
16 | g.56865465G>C | CA8068937 | SLC12A3 | c.230G>C (p.Gly77Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56865465G= | CA2224346995 | SLC12A3 | c.230G= (p.Gly77=) | |
16 | g.56865465G>T | CA395977490 | SLC12A3 | c.230G>T (p.Gly77Val) | |
16 | g.56865466T>A | CA495787849 | SLC12A3 | c.231T>A (p.Gly77=) | |
16 | g.56865466T>C | CA495787850 | SLC12A3 | c.231T>C (p.Gly77=) | |
16 | g.56865466T>G | CA495787851 | SLC12A3 | c.231T>G (p.Gly77=) | |
16 | g.56865467G>A | CA395977499 | SLC12A3 | c.232G>A (p.Glu78Lys) | |
16 | g.56865467G>C | CA395977502 | SLC12A3 | c.232G>C (p.Glu78Gln) | |
16 | g.56865467G>T | CA395977494 | SLC12A3 | c.232G>T (p.Glu78Ter) | |
16 | g.56865468A>C | CA395977517 | SLC12A3 | c.233A>C (p.Glu78Ala) | |
16 | g.56865468A>G | CA395977520 | SLC12A3 | c.233A>G (p.Glu78Gly) | |
16 | g.56865468A>T | CA395977524 | SLC12A3 | c.233A>T (p.Glu78Val) | |
16 | g.56865469del | CA2695223510 | SLC12A3 | c.234del (p.Glu78AspfsTer?) | |
16 | g.56865469G>A | CA495787852 | SLC12A3 | c.234G>A (p.Glu78=) | ClinVar dbSNP |
16 | g.56865469G>C | CA395977528 | SLC12A3 | c.234G>C (p.Glu78Asp) | |
16 | g.56865469G= | CA2224346996 | SLC12A3 | c.234G= (p.Glu78=) | |
16 | g.56865469G>T | CA395977534 | SLC12A3 | c.234G>T (p.Glu78Asp) | |
16 | g.56865470C>A | CA395977546 | SLC12A3 | c.235C>A (p.Pro79Thr) | gnomAD v4 |
16 | g.56865470C>G | CA395977539 | SLC12A3 | c.235C>G (p.Pro79Ala) | |
16 | g.56865470C>T | CA395977542 | SLC12A3 | c.235C>T (p.Pro79Ser) | gnomAD v4 |
16 | g.56865472_56865473dup | CA8068938 | SLC12A3 | c.237_238dup (p.Arg80ProfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56865473del | CA2695223511 | SLC12A3 | c.238del (p.Arg80GlyfsTer?) | |
16 | g.56865471C>A | CA395977555 | SLC12A3 | c.236C>A (p.Pro79His) | |
16 | g.56865471C= | CA2224346997 | SLC12A3 | c.236C= (p.Pro79=) | |
16 | g.56865471C>G | CA395977558 | SLC12A3 | c.236C>G (p.Pro79Arg) | |
16 | g.56865471C>T | CA8068939 | SLC12A3 | c.236C>T (p.Pro79Leu) | dbSNP ExAC gnomAD v2 |
16 | g.56865472C>A | CA495787853 | SLC12A3 | c.237C>A (p.Pro79=) | |
16 | g.56865472C>G | CA495787854 | SLC12A3 | c.237C>G (p.Pro79=) | |
16 | g.56865472C>T | CA495787855 | SLC12A3 | c.237C>T (p.Pro79=) | ClinVar gnomAD v4 |
16 | g.56865473C>A | CA495787856 | SLC12A3 | c.238C>A (p.Arg80=) | |
16 | g.56865473C= | CA2224346998 | SLC12A3 | c.238C= (p.Arg80=) | |
16 | g.56865473C>G | CA395977574 | SLC12A3 | c.238C>G (p.Arg80Gly) | |
16 | g.56865473C>T | CA8068940 | SLC12A3 | c.238C>T (p.Arg80Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.56865474G>A | CA395977582 | SLC12A3 | c.239G>A (p.Arg80Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.56865474G>C | CA395977586 | SLC12A3 | c.239G>C (p.Arg80Pro) | |
16 | g.56865474G= | CA2224346999 | SLC12A3 | c.239G= (p.Arg80=) | |
16 | g.56865474G>T | CA395977584 | SLC12A3 | c.239G>T (p.Arg80Leu) | |
16 | g.56865475G>A | CA495787857 | SLC12A3 | c.240G>A (p.Arg80=) | |
16 | g.56865475G>C | CA495787858 | SLC12A3 | c.240G>C (p.Arg80=) | ClinVar dbSNP gnomAD v4 |
16 | g.56865475G>T | CA495787859 | SLC12A3 | c.240G>T (p.Arg80=) | |
16 | g.56865476A>C | CA395977589 | SLC12A3 | c.241A>C (p.Lys81Gln) | |
16 | g.56865476A>G | CA395977593 | SLC12A3 | c.241A>G (p.Lys81Glu) | |
16 | g.56865476A>T | CA395977597 | SLC12A3 | c.241A>T (p.Lys81Ter) | |
16 | g.56865477A>C | CA395977602 | SLC12A3 | c.242A>C (p.Lys81Thr) | |
16 | g.56865477A>G | CA395977604 | SLC12A3 | c.242A>G (p.Lys81Arg) | COSMIC |
16 | g.56865477A>T | CA395977608 | SLC12A3 | c.242A>T (p.Lys81Met) | |
16 | g.56865478G>A | CA495787860 | SLC12A3 | c.243G>A (p.Lys81=) | COSMIC |
16 | g.56865478G>C | CA395977614 | SLC12A3 | c.243G>C (p.Lys81Asn) | |
16 | g.56865478G>T | CA395977616 | SLC12A3 | c.243G>T (p.Lys81Asn) | |
16 | g.56865479G>A | CA395977620 | SLC12A3 | c.244G>A (p.Val82Ile) | COSMIC |
16 | g.56865479G>C | CA395977621 | SLC12A3 | c.244G>C (p.Val82Leu) | |
16 | g.56865479G= | CA2224347000 | SLC12A3 | c.244G= (p.Val82=) | |
16 | g.56865479G>T | CA395977622 | SLC12A3 | c.244G>T (p.Val82Phe) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56865480T>A | CA395977626 | SLC12A3 | c.245T>A (p.Val82Asp) | |
16 | g.56865480T>C | CA395977634 | SLC12A3 | c.245T>C (p.Val82Ala) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56865480T>G | CA395977629 | SLC12A3 | c.245T>G (p.Val82Gly) | |
16 | g.56865480T= | CA2224347001 | SLC12A3 | c.245T= (p.Val82=) | |
16 | g.56865481C>A | CA281492381 | SLC12A3 | c.246C>A (p.Val82=) | dbSNP gnomAD v4 |
16 | g.56865481C= | CA2224347002 | SLC12A3 | c.246C= (p.Val82=) | |
16 | g.56865481C>G | CA495787861 | SLC12A3 | c.246C>G (p.Val82=) | |
16 | g.56865481C>T | CA495787862 | SLC12A3 | c.246C>T (p.Val82=) | dbSNP gnomAD v4 |
16 | g.56865482C>A | CA495787863 | SLC12A3 | c.247C>A (p.Arg83=) | gnomAD v4 |
16 | g.56865482C= | CA2224347003 | SLC12A3 | c.247C= (p.Arg83=) | |
16 | g.56865482C>G | CA395977639 | SLC12A3 | c.247C>G (p.Arg83Gly) | |
16 | g.56865482C>T | CA8068941 | SLC12A3 | c.247C>T (p.Arg83Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56865483G>A | CA8068942 | SLC12A3 | c.248G>A (p.Arg83Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56865483G>C | CA395977658 | SLC12A3 | c.248G>C (p.Arg83Pro) | |
16 | g.56865483G= | CA2224347004 | SLC12A3 | c.248G= (p.Arg83=) | |
16 | g.56865483G>T | CA395977653 | SLC12A3 | c.248G>T (p.Arg83Leu) | |
16 | g.56865484G>A | CA495787864 | SLC12A3 | c.249G>A (p.Arg83=) | dbSNP |
16 | g.56865484G>C | CA495787865 | SLC12A3 | c.249G>C (p.Arg83=) | |
16 | g.56865484G= | CA2224347005 | SLC12A3 | c.249G= (p.Arg83=) | |
16 | g.56865484G>T | CA8068943 | SLC12A3 | c.249G>T (p.Arg83=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56865485C>A | CA395977670 | SLC12A3 | c.250C>A (p.Pro84Thr) | |
16 | g.56865485C= | CA2224347006 | SLC12A3 | c.250C= (p.Pro84=) | |
16 | g.56865485C>G | CA395977673 | SLC12A3 | c.250C>G (p.Pro84Ala) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56865485C>T | CA395977674 | SLC12A3 | c.250C>T (p.Pro84Ser) | |
16 | g.56865486C>A | CA395977675 | SLC12A3 | c.251C>A (p.Pro84His) | |
16 | g.56865486C= | CA2224347007 | SLC12A3 | c.251C= (p.Pro84=) | |
16 | g.56865486C>G | CA395977676 | SLC12A3 | c.251C>G (p.Pro84Arg) | |
16 | g.56865486C>T | CA395977679 | SLC12A3 | c.251C>T (p.Pro84Leu) | dbSNP gnomAD v2 |
16 | g.56865487C>A | CA495787866 | SLC12A3 | c.252C>A (p.Pro84=) | dbSNP gnomAD v2 |
16 | g.56865487C= | CA2224347008 | SLC12A3 | c.252C= (p.Pro84=) | |
16 | g.56865487C>G | CA495787867 | SLC12A3 | c.252C>G (p.Pro84=) | |
16 | g.56865487C>T | CA8068944 | SLC12A3 | c.252C>T (p.Pro84=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56865488A>C | CA395977702 | SLC12A3 | c.253A>C (p.Thr85Pro) | |
16 | g.56865488A>G | CA395977705 | SLC12A3 | c.253A>G (p.Thr85Ala) | |
16 | g.56865488A>T | CA395977707 | SLC12A3 | c.253A>T (p.Thr85Ser) | |
16 | g.56865489C>A | CA395977721 | SLC12A3 | c.254C>A (p.Thr85Lys) | |
16 | g.56865489C>G | CA395977717 | SLC12A3 | c.254C>G (p.Thr85Arg) | |
16 | g.56865489C>T | CA395977712 | SLC12A3 | c.254C>T (p.Thr85Ile) | gnomAD v4 |
16 | g.56865490A= | CA2224347009 | SLC12A3 | c.255A= (p.Thr85=) | |
16 | g.56865490A>C | CA8068945 | SLC12A3 | c.255A>C (p.Thr85=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56865490A>G | CA495787869 | SLC12A3 | c.255A>G (p.Thr85=) | ClinVar dbSNP gnomAD v4 |
16 | g.56865490A>T | CA495787868 | SLC12A3 | c.255A>T (p.Thr85=) | ClinVar |
16 | g.56865491C>A | CA395977730 | SLC12A3 | c.256C>A (p.Leu86Met) | dbSNP |
16 | g.56865491C= | CA2224347010 | SLC12A3 | c.256C= (p.Leu86=) | |
16 | g.56865491C>G | CA8068946 | SLC12A3 | c.256C>G (p.Leu86Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56865491C>T | CA495787870 | SLC12A3 | c.256C>T (p.Leu86=) | gnomAD v4 |
16 | g.56865492T>A | CA395977734 | SLC12A3 | c.257T>A (p.Leu86Gln) | |
16 | g.56865492T>C | CA395977737 | SLC12A3 | c.257T>C (p.Leu86Pro) | |
16 | g.56865492T>G | CA395977740 | SLC12A3 | c.257T>G (p.Leu86Arg) | |
16 | g.56865493G>A | CA495787871 | SLC12A3 | c.258G>A (p.Leu86=) | |
16 | g.56865493G>C | CA495787872 | SLC12A3 | c.258G>C (p.Leu86=) | |
16 | g.56865493G= | CA2224347011 | SLC12A3 | c.258G= (p.Leu86=) | |
16 | g.56865493G>T | CA495787873 | SLC12A3 | c.258G>T (p.Leu86=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.56865494G>A | CA395977743 | SLC12A3 | c.259G>A (p.Ala87Thr) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56865494G>C | CA395977746 | SLC12A3 | c.259G>C (p.Ala87Pro) | |
16 | g.56865494G= | CA2224347012 | SLC12A3 | c.259G= (p.Ala87=) | |
16 | g.56865494G>T | CA395977749 | SLC12A3 | c.259G>T (p.Ala87Ser) | gnomAD v4 |
16 | g.56865495C>A | CA395977752 | SLC12A3 | c.260C>A (p.Ala87Asp) | |
16 | g.56865495C>G | CA395977755 | SLC12A3 | c.260C>G (p.Ala87Gly) | |
16 | g.56865495C>T | CA395977756 | SLC12A3 | c.260C>T (p.Ala87Val) | |
16 | g.56865496T>A | CA495787874 | SLC12A3 | c.261T>A (p.Ala87=) | |
16 | g.56865496T>C | CA495787876 | SLC12A3 | c.261T>C (p.Ala87=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.56865496T>G | CA495787875 | SLC12A3 | c.261T>G (p.Ala87=) | |
16 | g.56865496T= | CA2224347013 | SLC12A3 | c.261T= (p.Ala87=) | |
16 | g.56865497G>A | CA395977763 | SLC12A3 | c.262G>A (p.Asp88Asn) | |
16 | g.56865497G>C | CA395977760 | SLC12A3 | c.262G>C (p.Asp88His) | |
16 | g.56865497G>T | CA395977757 | SLC12A3 | c.262G>T (p.Asp88Tyr) | |
16 | g.56865498A= | CA2224347014 | SLC12A3 | c.263A= (p.Asp88=) | |
16 | g.56865498A>C | CA395977772 | SLC12A3 | c.263A>C (p.Asp88Ala) | |
16 | g.56865498A>G | CA395977767 | SLC12A3 | c.263A>G (p.Asp88Gly) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56865498A>T | CA395977770 | SLC12A3 | c.263A>T (p.Asp88Val) | |
16 | g.56865499C>A | CA395977775 | SLC12A3 | c.264C>A (p.Asp88Glu) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56865499C= | CA2224347015 | SLC12A3 | c.264C= (p.Asp88=) | |
16 | g.56865499C>G | CA395977777 | SLC12A3 | c.264C>G (p.Asp88Glu) | |
16 | g.56865499C>T | CA495787877 | SLC12A3 | c.264C>T (p.Asp88=) | |
16 | g.56865500C>A | CA395977781 | SLC12A3 | c.265C>A (p.Leu89Met) | |
16 | g.56865500C>G | CA395977784 | SLC12A3 | c.265C>G (p.Leu89Val) | |
16 | g.56865500C>T | CA495787878 | SLC12A3 | c.265C>T (p.Leu89=) | gnomAD v4 |
16 | g.56865501T>A | CA395977787 | SLC12A3 | c.266T>A (p.Leu89Gln) | |
16 | g.56865501T>C | CA395977788 | SLC12A3 | c.266T>C (p.Leu89Pro) | |
16 | g.56865501T>G | CA395977790 | SLC12A3 | c.266T>G (p.Leu89Arg) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56865501T= | CA2224347016 | SLC12A3 | c.266T= (p.Leu89=) | |
16 | g.56865502G>A | CA495787879 | SLC12A3 | c.267G>A (p.Leu89=) | ClinVar dbSNP gnomAD v4 |
16 | g.56865502G>C | CA495787880 | SLC12A3 | c.267G>C (p.Leu89=) | gnomAD v4 |
16 | g.56865502G>T | CA495787881 | SLC12A3 | c.267G>T (p.Leu89=) | |
16 | g.56865503C>A | CA395977793 | SLC12A3 | c.268C>A (p.His90Asn) | |
16 | g.56865503C= | CA2224347017 | SLC12A3 | c.268C= (p.His90=) | |
16 | g.56865503C>G | CA395977797 | SLC12A3 | c.268C>G (p.His90Asp) | |
16 | g.56865503C>T | CA395977799 | SLC12A3 | c.268C>T (p.His90Tyr) | ClinVar dbSNP |
16 | g.56865504A= | CA2224347018 | SLC12A3 | c.269A= (p.His90=) | |
16 | g.56865504A>C | CA395977806 | SLC12A3 | c.269A>C (p.His90Pro) | dbSNP gnomAD v4 |
16 | g.56865504A>G | CA395977807 | SLC12A3 | c.269A>G (p.His90Arg) | gnomAD v4 |
16 | g.56865504A>T | CA395977804 | SLC12A3 | c.269A>T (p.His90Leu) | |
16 | g.56865505C>A | CA395977808 | SLC12A3 | c.270C>A (p.His90Gln) | |
16 | g.56865505C>G | CA395977809 | SLC12A3 | c.270C>G (p.His90Gln) | |
16 | g.56865505C>T | CA495787882 | SLC12A3 | c.270C>T (p.His90=) | ClinVar dbSNP gnomAD v4 |
16 | g.56865506T>A | CA395977815 | SLC12A3 | c.271T>A (p.Ser91Thr) | |
16 | g.56865506T>C | CA395977818 | SLC12A3 | c.271T>C (p.Ser91Pro) | ClinVar dbSNP |
16 | g.56865506T>G | CA395977823 | SLC12A3 | c.271T>G (p.Ser91Ala) | |
16 | g.56865506T= | CA2224347019 | SLC12A3 | c.271T= (p.Ser91=) | |
16 | g.56865507C>A | CA395977833 | SLC12A3 | c.272C>A (p.Ser91Tyr) | |
16 | g.56865507C= | CA2224347020 | SLC12A3 | c.272C= (p.Ser91=) | |
16 | g.56865507C>G | CA395977828 | SLC12A3 | c.272C>G (p.Ser91Cys) | dbSNP gnomAD v4 |
16 | g.56865507C>T | CA395977830 | SLC12A3 | c.272C>T (p.Ser91Phe) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56865507_56865508delinsTT | CA645573536 | SLC12A3 | c.272_273delinsTT (p.Ser91Phe) | COSMIC |
16 | g.56865508C>A | CA495787884 | SLC12A3 | c.273C>A (p.Ser91=) | |
16 | g.56865508C>G | CA495787885 | SLC12A3 | c.273C>G (p.Ser91=) | |
16 | g.56865508C>T | CA495787883 | SLC12A3 | c.273C>T (p.Ser91=) | gnomAD v4 |
16 | g.56865509T>A | CA395977836 | SLC12A3 | c.274T>A (p.Phe92Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56865509T>C | CA395977839 | SLC12A3 | c.274T>C (p.Phe92Leu) | |
16 | g.56865509T>G | CA395977842 | SLC12A3 | c.274T>G (p.Phe92Val) | |
16 | g.56865509T= | CA2224347021 | SLC12A3 | c.274T= (p.Phe92=) | |
16 | g.56865510T>A | CA395977851 | SLC12A3 | c.275T>A (p.Phe92Tyr) | |
16 | g.56865510T>C | CA395977854 | SLC12A3 | c.275T>C (p.Phe92Ser) | |
16 | g.56865510T>G | CA395977859 | SLC12A3 | c.275T>G (p.Phe92Cys) | |
16 | g.56865511C>A | CA395977864 | SLC12A3 | c.276C>A (p.Phe92Leu) | |
16 | g.56865511C= | CA2224347022 | SLC12A3 | c.276C= (p.Phe92=) | |
16 | g.56865511C>G | CA395977866 | SLC12A3 | c.276C>G (p.Phe92Leu) | |
16 | g.56865511C>T | CA281492393 | SLC12A3 | c.276C>T (p.Phe92=) | dbSNP gnomAD v4 |
16 | g.56865512C>A | CA395977870 | SLC12A3 | c.277C>A (p.Leu93Ile) | |
16 | g.56865512C= | CA2224347023 | SLC12A3 | c.277C= (p.Leu93=) | |
16 | g.56865512C>G | CA395977876 | SLC12A3 | c.277C>G (p.Leu93Val) | |
16 | g.56865512C>T | CA8068947 | SLC12A3 | c.277C>T (p.Leu93Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56865513_56865514del | CA2732474919 | SLC12A3 | c.278_279del (p.Leu93GlnfsTer13) c.278_279del (p.Leu93GlnfsTer12) | dbSNP |
16 | g.56865513T>A | CA395977879 | SLC12A3 | c.278T>A (p.Leu93His) | |
16 | g.56865513T>C | CA395977881 | SLC12A3 | c.278T>C (p.Leu93Pro) | |
16 | g.56865513T>G | CA395977885 | SLC12A3 | c.278T>G (p.Leu93Arg) | |
16 | g.56865514C>A | CA495787886 | SLC12A3 | c.279C>A (p.Leu93=) | |
16 | g.56865514C= | CA2224347024 | SLC12A3 | c.279C= (p.Leu93=) | |
16 | g.56865514C>G | CA495787887 | SLC12A3 | c.279C>G (p.Leu93=) | COSMIC |
16 | g.56865514C>T | CA281492397 | SLC12A3 | c.279C>T (p.Leu93=) | dbSNP |
16 | g.56865515A>C | CA395977890 | SLC12A3 | c.280A>C (p.Lys94Gln) | |
16 | g.56865515A>G | CA395977892 | SLC12A3 | c.280A>G (p.Lys94Glu) | |
16 | g.56865515A>T | CA395977895 | SLC12A3 | c.280A>T (p.Lys94Ter) | |
16 | g.56865516A>C | CA395977899 | SLC12A3 | c.281A>C (p.Lys94Thr) | |
16 | g.56865516A>G | CA395977902 | SLC12A3 | c.281A>G (p.Lys94Arg) | |
16 | g.56865516A>T | CA395977912 | SLC12A3 | c.281A>T (p.Lys94Met) | |
16 | g.56865517G>A | CA495787888 | SLC12A3 | c.282G>A (p.Lys94=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56865517G>C | CA395977916 | SLC12A3 | c.282G>C (p.Lys94Asn) | |
16 | g.56865517G= | CA2224347025 | SLC12A3 | c.282G= (p.Lys94=) | |
16 | g.56865517G>T | CA395977917 | SLC12A3 | c.282G>T (p.Lys94Asn) | |
16 | g.56865518G>A | CA395977925 | SLC12A3 | c.282+1G>A (n.282+1G>A) | |
16 | g.56865518G>C | CA395977921 | SLC12A3 | c.282+1G>C (n.282+1G>C) | |
16 | g.56865518G>T | CA395977923 | SLC12A3 | c.282+1G>T (n.282+1G>T) | gnomAD v4 |
16 | g.56865519T>A | CA395977928 | SLC12A3 | c.282+2T>A (n.282+2T>A) | gnomAD v4 |
16 | g.56865519T>C | CA395977931 | SLC12A3 | c.282+2T>C (n.282+2T>C) | |
16 | g.56865519T>G | CA395977933 | SLC12A3 | c.282+2T>G (n.282+2T>G) | |
16 | g.56865520A>G | CA2807159559 | SLC12A3 | c.282+3A>G (n.282+3A>G) | |
16 | g.56865520_56865521insGGCAGACACCTGCATGCCCTGGCCTTTGACAGCCGGCCC | CA2633369082 | SLC12A3 | c.282+3_282+4insGGCAGACACCTGCATGCCCTGGCCTTTGACAGCCGGCCC (n.282+3_282+4insGGCAGACACCTGCATGCCCTGGCCTTTGACAGCCGGCCC) | gnomAD v4 |
16 | g.56865521A>G | CA2633369084 | SLC12A3 | c.282+4A>G (n.282+4A>G) | gnomAD v4 |
16 | g.56865524G>A | CA2573152444 | SLC12A3 | c.282+7G>A (n.282+7G>A) | ClinVar dbSNP |
16 | g.56865524G>C | CA2633369087 | SLC12A3 | c.282+7G>C (n.282+7G>C) | gnomAD v4 |
16 | g.56865524G>T | CA2633369089 | SLC12A3 | c.282+7G>T (n.282+7G>T) | gnomAD v4 |
16 | g.56865525C>T | CA2633369092 | SLC12A3 | c.282+8C>T (n.282+8C>T) | gnomAD v4 |
16 | g.56865526T>C | CA2633369096 | SLC12A3 | c.282+9T>C (n.282+9T>C) | gnomAD v4 |
16 | g.56865527G>A | CA2633369100 | SLC12A3 | c.282+10G>A (n.282+10G>A) | gnomAD v4 |
16 | g.56865527G= | CA2224347026 | SLC12A3 | c.282+10G= (n.282+10G=) | |
16 | g.56865527G>T | CA8068948 | SLC12A3 | c.282+10G>T (n.282+10G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56865531C>A | CA2224347028 | SLC12A3 | c.282+14C>A (n.282+14C>A) | dbSNP |
16 | g.56865531C= | CA2224347027 | SLC12A3 | c.282+14C= (n.282+14C=) | |
16 | g.56865531C>T | CA2633369109 | SLC12A3 | c.282+14C>T (n.282+14C>T) | gnomAD v4 |
16 | g.56865532A>C | CA2576001572 | SLC12A3 | c.282+15A>C (n.282+15A>C) | |
16 | g.56865532A>G | CA2633369113 | SLC12A3 | c.282+15A>G (n.282+15A>G) | gnomAD v4 |
16 | g.56865532A>T | CA2633369114 | SLC12A3 | c.282+15A>T (n.282+15A>T) | gnomAD v4 |
16 | g.56865533G>A | CA977635849 | SLC12A3 | c.282+16G>A (n.282+16G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.56865533G= | CA2224347029 | SLC12A3 | c.282+16G= (n.282+16G=) | |
16 | g.56865533G>T | CA2633369120 | SLC12A3 | c.282+16G>T (n.282+16G>T) | gnomAD v4 |
16 | g.56865536G>A | CA622332142 | SLC12A3 | c.282+19G>A (n.282+19G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56865536G= | CA2224347030 | SLC12A3 | c.282+19G= (n.282+19G=) | |
16 | g.56865536G>T | CA2633369124 | SLC12A3 | c.282+19G>T (n.282+19G>T) | gnomAD v4 |
16 | g.56865537A>T | CA2739266764 | SLC12A3 | c.282+20A>T (n.282+20A>T) | ClinVar |
16 | g.56865538C>A | CA2633369130 | SLC12A3 | c.282+21C>A (n.282+21C>A) | gnomAD v4 |
16 | g.56865538C= | CA2224347031 | SLC12A3 | c.282+21C= (n.282+21C=) | |
16 | g.56865538C>G | CA2224347032 | SLC12A3 | c.282+21C>G (n.282+21C>G) | dbSNP |
16 | g.56865539T>C | CA722001550 | SLC12A3 | c.282+22T>C (n.282+22T>C) | dbSNP |
16 | g.56865539T= | CA2224347033 | SLC12A3 | c.282+22T= (n.282+22T=) | |
16 | g.56865540G>T | CA2552570240 | SLC12A3 | c.282+23G>T (n.282+23G>T) | gnomAD v4 |
16 | g.56865541G>T | CA2633369133 | SLC12A3 | c.282+24G>T (n.282+24G>T) | gnomAD v4 |
16 | g.56865542C>T | CA2633369135 | SLC12A3 | c.282+25C>T (n.282+25C>T) | gnomAD v4 |
16 | g.56865543C= | CA2224347034 | SLC12A3 | c.282+26C= (n.282+26C=) | |
16 | g.56865543C>T | CA8068949 | SLC12A3 | c.282+26C>T (n.282+26C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56865544A= | CA2224347035 | SLC12A3 | c.282+27A= (n.282+27A=) | |
16 | g.56865544A>G | CA8068950 | SLC12A3 | c.282+27A>G (n.282+27A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56865545C= | CA2224347036 | SLC12A3 | c.282+28C= (n.282+28C=) | |
16 | g.56865545C>T | CA8068951 | SLC12A3 | c.282+28C>T (n.282+28C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56865546T>C | CA622332143 | SLC12A3 | c.282+29T>C (n.282+29T>C) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56865546T= | CA2224347037 | SLC12A3 | c.282+29T= (n.282+29T=) | |
16 | g.56865548C= | CA2224347038 | SLC12A3 | c.282+31C= (n.282+31C=) | |
16 | g.56865548C>T | CA8068952 | SLC12A3 | c.282+31C>T (n.282+31C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56865549C= | CA2224347039 | SLC12A3 | c.282+32C= (n.282+32C=) | |
16 | g.56865549C>T | CA8068953 | SLC12A3 | c.282+32C>T (n.282+32C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56865550C>A | CA2633369160 | SLC12A3 | c.282+33C>A (n.282+33C>A) | gnomAD v4 |
16 | g.56865551T>C | CA2633369165 | SLC12A3 | c.282+34T>C (n.282+34T>C) | gnomAD v4 |
16 | g.56865551T>G | CA8068954 | SLC12A3 | c.282+34T>G (n.282+34T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56865551T= | CA2224347040 | SLC12A3 | c.282+34T= (n.282+34T=) | |
16 | g.56865552G>A | CA281492409 | SLC12A3 | c.282+35G>A (n.282+35G>A) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56865552G= | CA2224347041 | SLC12A3 | c.282+35G= (n.282+35G=) | |
16 | g.56865553C>A | CA2633369177 | SLC12A3 | c.282+36C>A (n.282+36C>A) | gnomAD v4 |
16 | g.56865553C= | CA2224347042 | SLC12A3 | c.282+36C= (n.282+36C=) | |
16 | g.56865553C>T | CA8068955 | SLC12A3 | c.282+36C>T (n.282+36C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56865554T>C | CA622332144 | SLC12A3 | c.282+37T>C (n.282+37T>C) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56865554T= | CA2224347043 | SLC12A3 | c.282+37T= (n.282+37T=) | |
16 | g.56865555G>A | CA622332146 | SLC12A3 | c.282+38G>A (n.282+38G>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56865555G>C | CA281492415 | SLC12A3 | c.282+38G>C (n.282+38G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56865555G= | CA2224347044 | SLC12A3 | c.282+38G= (n.282+38G=) | |
16 | g.56865555G>T | CA622332145 | SLC12A3 | c.282+38G>T (n.282+38G>T) | dbSNP gnomAD v2 |
16 | g.56865556T>C | CA722001580 | SLC12A3 | c.282+39T>C (n.282+39T>C) | dbSNP |
16 | g.56865556T>G | CA2633369194 | SLC12A3 | c.282+39T>G (n.282+39T>G) | gnomAD v4 |
16 | g.56865556T= | CA2224347045 | SLC12A3 | c.282+39T= (n.282+39T=) | |
16 | g.56865557G>C | CA2633369198 | SLC12A3 | c.282+40G>C (n.282+40G>C) | gnomAD v4 |
16 | g.56865557G>T | CA2633369199 | SLC12A3 | c.282+40G>T (n.282+40G>T) | gnomAD v4 |
16 | g.56865558_56865559insCGAGGTCACACAGCAG | CA2633369200 | SLC12A3 | c.282+41_282+42insCGAGGTCACACAGCAG (n.282+41_282+42insCGAGGTCACACAGCAG) | gnomAD v4 |
16 | g.56865560_56865561delinsAC | CA2224347046 | SLC12A3 | c.282+43_282+44delinsAC (n.282+43_282+44delinsAC) |