Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.51139236C>A | CA395882763 | SALL1 | c.2986G>T (p.Gly996Cys) c.2695G>T (p.Gly899Cys) c.77-1684G>T (n.77-1684G>T) | |
16 | g.51139236C= | CA2222017584 | SALL1 | c.2986G= (p.Gly996=) c.2695G= (p.Gly899=) c.77-1684G= (n.77-1684G=) | |
16 | g.51139236C>G | CA395882764 | SALL1 | c.2986G>C (p.Gly996Arg) c.2695G>C (p.Gly899Arg) c.77-1684G>C (n.77-1684G>C) | |
16 | g.51139236C>T | CA395882765 | SALL1 | c.2986G>A (p.Gly996Ser) c.2695G>A (p.Gly899Ser) c.77-1684G>A (n.77-1684G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139237C>A | CA495780133 | SALL1 | c.2985G>T (p.Arg995=) c.2694G>T (p.Arg898=) c.77-1685G>T (n.77-1685G>T) | |
16 | g.51139237C= | CA2222017588 | SALL1 | c.2985G= (p.Arg995=) c.2694G= (p.Arg898=) c.77-1685G= (n.77-1685G=) | |
16 | g.51139237C>G | CA495780134 | SALL1 | c.2985G>C (p.Arg995=) c.2694G>C (p.Arg898=) c.77-1685G>C (n.77-1685G>C) | |
16 | g.51139237C>T | CA8052997 | SALL1 | c.2985G>A (p.Arg995=) c.2694G>A (p.Arg898=) c.77-1685G>A (n.77-1685G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139238C>A | CA395882766 | SALL1 | c.2984G>T (p.Arg995Leu) c.2693G>T (p.Arg898Leu) c.77-1686G>T (n.77-1686G>T) | |
16 | g.51139238C= | CA2222017591 | SALL1 | c.2984G= (p.Arg995=) c.2693G= (p.Arg898=) c.77-1686G= (n.77-1686G=) | |
16 | g.51139238C>G | CA395882767 | SALL1 | c.2984G>C (p.Arg995Pro) c.2693G>C (p.Arg898Pro) c.77-1686G>C (n.77-1686G>C) | |
16 | g.51139238C>T | CA8052998 | SALL1 | c.2984G>A (p.Arg995Gln) c.2693G>A (p.Arg898Gln) c.77-1686G>A (n.77-1686G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.51139239G>A | CA8052999 | SALL1 | c.2983C>T (p.Arg995Trp) c.2692C>T (p.Arg898Trp) c.77-1687C>T (n.77-1687C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.51139239G>C | CA281300889 | SALL1 | c.2983C>G (p.Arg995Gly) c.2692C>G (p.Arg898Gly) c.77-1687C>G (n.77-1687C>G) | ClinVar dbSNP gnomAD v4 |
16 | g.51139239G= | CA2222017596 | SALL1 | c.2983C= (p.Arg995=) c.2692C= (p.Arg898=) c.77-1687C= (n.77-1687C=) | |
16 | g.51139239G>T | CA495780136 | SALL1 | c.2983C>A (p.Arg995=) c.2692C>A (p.Arg898=) c.77-1687C>A (n.77-1687C>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51139240G>A | CA495780137 | SALL1 | c.2982C>T (p.Asp994=) c.2691C>T (p.Asp897=) c.77-1688C>T (n.77-1688C>T) | |
16 | g.51139240G>C | CA395882768 | SALL1 | c.2982C>G (p.Asp994Glu) c.2691C>G (p.Asp897Glu) c.77-1688C>G (n.77-1688C>G) | |
16 | g.51139240G>T | CA395882769 | SALL1 | c.2982C>A (p.Asp994Glu) c.2691C>A (p.Asp897Glu) c.77-1688C>A (n.77-1688C>A) | |
16 | g.51139241T>A | CA395882770 | SALL1 | c.2981A>T (p.Asp994Val) c.2690A>T (p.Asp897Val) c.77-1689A>T (n.77-1689A>T) | |
16 | g.51139241T>C | CA395882771 | SALL1 | c.2981A>G (p.Asp994Gly) c.2690A>G (p.Asp897Gly) c.77-1689A>G (n.77-1689A>G) | |
16 | g.51139241T>G | CA395882772 | SALL1 | c.2981A>C (p.Asp994Ala) c.2690A>C (p.Asp897Ala) c.77-1689A>C (n.77-1689A>C) | |
16 | g.51139242C>A | CA395882773 | SALL1 | c.2980G>T (p.Asp994Tyr) c.2689G>T (p.Asp897Tyr) c.77-1690G>T (n.77-1690G>T) | |
16 | g.51139242C>G | CA395882774 | SALL1 | c.2980G>C (p.Asp994His) c.2689G>C (p.Asp897His) c.77-1690G>C (n.77-1690G>C) | |
16 | g.51139242C>T | CA395882775 | SALL1 | c.2980G>A (p.Asp994Asn) c.2689G>A (p.Asp897Asn) c.77-1690G>A (n.77-1690G>A) | gnomAD v4 |
16 | g.51139243T>A | CA395882776 | SALL1 | c.2979A>T (p.Arg993Ser) c.2688A>T (p.Arg896Ser) c.77-1691A>T (n.77-1691A>T) | |
16 | g.51139243T>C | CA495780139 | SALL1 | c.2979A>G (p.Arg993=) c.2688A>G (p.Arg896=) c.77-1691A>G (n.77-1691A>G) | |
16 | g.51139243T>G | CA395882777 | SALL1 | c.2979A>C (p.Arg993Ser) c.2688A>C (p.Arg896Ser) c.77-1691A>C (n.77-1691A>C) | gnomAD v4 |
16 | g.51139244C>A | CA395882780 | SALL1 | c.2978G>T (p.Arg993Ile) c.2687G>T (p.Arg896Ile) c.77-1692G>T (n.77-1692G>T) | gnomAD v4 |
16 | g.51139244C>G | CA395882781 | SALL1 | c.2978G>C (p.Arg993Thr) c.2687G>C (p.Arg896Thr) c.77-1692G>C (n.77-1692G>C) | |
16 | g.51139244C>T | CA395882784 | SALL1 | c.2978G>A (p.Arg993Lys) c.2687G>A (p.Arg896Lys) c.77-1692G>A (n.77-1692G>A) | |
16 | g.51139245T>A | CA395882787 | SALL1 | c.2977A>T (p.Arg993Ter) c.2686A>T (p.Arg896Ter) c.77-1693A>T (n.77-1693A>T) | |
16 | g.51139245T>C | CA395882788 | SALL1 | c.2977A>G (p.Arg993Gly) c.2686A>G (p.Arg896Gly) c.77-1693A>G (n.77-1693A>G) | |
16 | g.51139245T>G | CA495780140 | SALL1 | c.2977A>C (p.Arg993=) c.2686A>C (p.Arg896=) c.77-1693A>C (n.77-1693A>C) | |
16 | g.51139246A= | CA2222017602 | SALL1 | c.2976T= (p.Phe992=) c.2685T= (p.Phe895=) c.77-1694T= (n.77-1694T=) | |
16 | g.51139246A>C | CA395882792 | SALL1 | c.2976T>G (p.Phe992Leu) c.2685T>G (p.Phe895Leu) c.77-1694T>G (n.77-1694T>G) | |
16 | g.51139246A>G | CA8053000 | SALL1 | c.2976T>C (p.Phe992=) c.2685T>C (p.Phe895=) c.77-1694T>C (n.77-1694T>C) | dbSNP ExAC gnomAD v4 |
16 | g.51139246A>T | CA395882795 | SALL1 | c.2976T>A (p.Phe992Leu) c.2685T>A (p.Phe895Leu) c.77-1694T>A (n.77-1694T>A) | |
16 | g.51139247A= | CA2222017607 | SALL1 | c.2975T= (p.Phe992=) c.2684T= (p.Phe895=) c.77-1695T= (n.77-1695T=) | |
16 | g.51139247A>C | CA8053001 | SALL1 | c.2975T>G (p.Phe992Cys) c.2684T>G (p.Phe895Cys) c.77-1695T>G (n.77-1695T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51139247A>G | CA395882800 | SALL1 | c.2975T>C (p.Phe992Ser) c.2684T>C (p.Phe895Ser) c.77-1695T>C (n.77-1695T>C) | gnomAD v4 |
16 | g.51139247A>T | CA395882803 | SALL1 | c.2975T>A (p.Phe992Tyr) c.2684T>A (p.Phe895Tyr) c.77-1695T>A (n.77-1695T>A) | |
16 | g.51139248A>C | CA395882807 | SALL1 | c.2974T>G (p.Phe992Val) c.2683T>G (p.Phe895Val) c.77-1696T>G (n.77-1696T>G) | |
16 | g.51139248A>G | CA395882808 | SALL1 | c.2974T>C (p.Phe992Leu) c.2683T>C (p.Phe895Leu) c.77-1696T>C (n.77-1696T>C) | gnomAD v4 COSMIC |
16 | g.51139248A>T | CA395882810 | SALL1 | c.2974T>A (p.Phe992Ile) c.2683T>A (p.Phe895Ile) c.77-1696T>A (n.77-1696T>A) | |
16 | g.51139249A= | CA2222017616 | SALL1 | c.2973T= (p.Pro991=) c.2682T= (p.Pro894=) c.77-1697T= (n.77-1697T=) | |
16 | g.51139249A>C | CA495780144 | SALL1 | c.2973T>G (p.Pro991=) c.2682T>G (p.Pro894=) c.77-1697T>G (n.77-1697T>G) | |
16 | g.51139249A>G | CA495780143 | SALL1 | c.2973T>C (p.Pro991=) c.2682T>C (p.Pro894=) c.77-1697T>C (n.77-1697T>C) | dbSNP |
16 | g.51139249A>T | CA495780142 | SALL1 | c.2973T>A (p.Pro991=) c.2682T>A (p.Pro894=) c.77-1697T>A (n.77-1697T>A) | |
16 | g.51139250G>A | CA395882815 | SALL1 | c.2972C>T (p.Pro991Leu) c.2681C>T (p.Pro894Leu) c.77-1698C>T (n.77-1698C>T) | COSMIC |
16 | g.51139250G>C | CA395882816 | SALL1 | c.2972C>G (p.Pro991Arg) c.2681C>G (p.Pro894Arg) c.77-1698C>G (n.77-1698C>G) | dbSNP |
16 | g.51139250G= | CA2222017620 | SALL1 | c.2972C= (p.Pro991=) c.2681C= (p.Pro894=) c.77-1698C= (n.77-1698C=) | |
16 | g.51139250G>T | CA395882818 | SALL1 | c.2972C>A (p.Pro991His) c.2681C>A (p.Pro894His) c.77-1698C>A (n.77-1698C>A) | |
16 | g.51139251G>A | CA395882824 | SALL1 | c.2971C>T (p.Pro991Ser) c.2680C>T (p.Pro894Ser) c.77-1699C>T (n.77-1699C>T) | gnomAD v4 |
16 | g.51139251G>C | CA395882828 | SALL1 | c.2971C>G (p.Pro991Ala) c.2680C>G (p.Pro894Ala) c.77-1699C>G (n.77-1699C>G) | |
16 | g.51139251G>T | CA395882822 | SALL1 | c.2971C>A (p.Pro991Thr) c.2680C>A (p.Pro894Thr) c.77-1699C>A (n.77-1699C>A) | |
16 | g.51139252G>A | CA495780146 | SALL1 | c.2970C>T (p.Phe990=) c.2679C>T (p.Phe893=) c.77-1700C>T (n.77-1700C>T) | |
16 | g.51139252G>C | CA395882836 | SALL1 | c.2970C>G (p.Phe990Leu) c.2679C>G (p.Phe893Leu) c.77-1700C>G (n.77-1700C>G) | |
16 | g.51139252G>T | CA395882834 | SALL1 | c.2970C>A (p.Phe990Leu) c.2679C>A (p.Phe893Leu) c.77-1700C>A (n.77-1700C>A) | COSMIC |
16 | g.51139253A= | CA2222017621 | SALL1 | c.2969T= (p.Phe990=) c.2678T= (p.Phe893=) c.77-1701T= (n.77-1701T=) | |
16 | g.51139253A>C | CA395882841 | SALL1 | c.2969T>G (p.Phe990Cys) c.2678T>G (p.Phe893Cys) c.77-1701T>G (n.77-1701T>G) | |
16 | g.51139253A>G | CA395882842 | SALL1 | c.2969T>C (p.Phe990Ser) c.2678T>C (p.Phe893Ser) c.77-1701T>C (n.77-1701T>C) | |
16 | g.51139253A>T | CA395882843 | SALL1 | c.2969T>A (p.Phe990Tyr) c.2678T>A (p.Phe893Tyr) c.77-1701T>A (n.77-1701T>A) | |
16 | g.51139254A>C | CA395882845 | SALL1 | c.2968T>G (p.Phe990Val) c.2677T>G (p.Phe893Val) c.77-1702T>G (n.77-1702T>G) | |
16 | g.51139254A>G | CA395882846 | SALL1 | c.2968T>C (p.Phe990Leu) c.2677T>C (p.Phe893Leu) c.77-1702T>C (n.77-1702T>C) | ClinVar |
16 | g.51139254A>T | CA395882848 | SALL1 | c.2968T>A (p.Phe990Ile) c.2677T>A (p.Phe893Ile) c.77-1702T>A (n.77-1702T>A) | |
16 | g.51139256_51139257dup | CA622654491 | SALL1 | c.2967_2968dup (p.Phe990SerfsTer?) c.2676_2677dup (p.Phe893SerfsTer?) c.77-1703_77-1702dup (n.77-1703_77-1702dup) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51139256_51139257del | CA2633181093 | SALL1 | c.2967_2968del (p.Phe990ProfsTer3) c.2676_2677del (p.Phe893ProfsTer3) c.77-1703_77-1702del (n.77-1703_77-1702del) | gnomAD v4 |
16 | g.51139255G>A | CA8053002 | SALL1 | c.2967C>T (p.Leu989=) c.2676C>T (p.Leu892=) c.77-1703C>T (n.77-1703C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139255G>C | CA495780147 | SALL1 | c.2967C>G (p.Leu989=) c.2676C>G (p.Leu892=) c.77-1703C>G (n.77-1703C>G) | |
16 | g.51139255G= | CA2222017627 | SALL1 | c.2967C= (p.Leu989=) c.2676C= (p.Leu892=) c.77-1703C= (n.77-1703C=) | |
16 | g.51139255G>T | CA495780148 | SALL1 | c.2967C>A (p.Leu989=) c.2676C>A (p.Leu892=) c.77-1703C>A (n.77-1703C>A) | |
16 | g.51139256A>C | CA395882854 | SALL1 | c.2966T>G (p.Leu989Arg) c.2675T>G (p.Leu892Arg) c.77-1704T>G (n.77-1704T>G) | |
16 | g.51139256A>G | CA395882856 | SALL1 | c.2966T>C (p.Leu989Pro) c.2675T>C (p.Leu892Pro) c.77-1704T>C (n.77-1704T>C) | |
16 | g.51139256A>T | CA395882860 | SALL1 | c.2966T>A (p.Leu989His) c.2675T>A (p.Leu892His) c.77-1704T>A (n.77-1704T>A) | |
16 | g.51139257G>A | CA395882864 | SALL1 | c.2965C>T (p.Leu989Phe) c.2674C>T (p.Leu892Phe) c.77-1705C>T (n.77-1705C>T) | COSMIC |
16 | g.51139257G>C | CA395882867 | SALL1 | c.2965C>G (p.Leu989Val) c.2674C>G (p.Leu892Val) c.77-1705C>G (n.77-1705C>G) | |
16 | g.51139257G>T | CA395882869 | SALL1 | c.2965C>A (p.Leu989Ile) c.2674C>A (p.Leu892Ile) c.77-1705C>A (n.77-1705C>A) | |
16 | g.51139258G>A | CA8053003 | SALL1 | c.2964C>T (p.Ile988=) c.2673C>T (p.Ile891=) c.77-1706C>T (n.77-1706C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.51139258G>C | CA395882889 | SALL1 | c.2964C>G (p.Ile988Met) c.2673C>G (p.Ile891Met) c.77-1706C>G (n.77-1706C>G) | |
16 | g.51139258G= | CA2222017630 | SALL1 | c.2964C= (p.Ile988=) c.2673C= (p.Ile891=) c.77-1706C= (n.77-1706C=) | |
16 | g.51139258G>T | CA8053004 | SALL1 | c.2964C>A (p.Ile988=) c.2673C>A (p.Ile891=) c.77-1706C>A (n.77-1706C>A) | dbSNP ExAC gnomAD v2 |
16 | g.51139259A>C | CA395882894 | SALL1 | c.2963T>G (p.Ile988Ser) c.2672T>G (p.Ile891Ser) c.77-1707T>G (n.77-1707T>G) | |
16 | g.51139259A>G | CA395882896 | SALL1 | c.2963T>C (p.Ile988Thr) c.2672T>C (p.Ile891Thr) c.77-1707T>C (n.77-1707T>C) | |
16 | g.51139259A>T | CA395882898 | SALL1 | c.2963T>A (p.Ile988Asn) c.2672T>A (p.Ile891Asn) c.77-1707T>A (n.77-1707T>A) | gnomAD v4 |
16 | g.51139260T>A | CA8053005 | SALL1 | c.2962A>T (p.Ile988Phe) c.2671A>T (p.Ile891Phe) c.77-1708A>T (n.77-1708A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51139260T>C | CA395882903 | SALL1 | c.2962A>G (p.Ile988Val) c.2671A>G (p.Ile891Val) c.77-1708A>G (n.77-1708A>G) | |
16 | g.51139260T>G | CA395882907 | SALL1 | c.2962A>C (p.Ile988Leu) c.2671A>C (p.Ile891Leu) c.77-1708A>C (n.77-1708A>C) | |
16 | g.51139260T= | CA2222017636 | SALL1 | c.2962A= (p.Ile988=) c.2671A= (p.Ile891=) c.77-1708A= (n.77-1708A=) | |
16 | g.51139261C>A | CA495780151 | SALL1 | c.2961G>T (p.Gly987=) c.2670G>T (p.Gly890=) c.77-1709G>T (n.77-1709G>T) | |
16 | g.51139261C>G | CA495780152 | SALL1 | c.2961G>C (p.Gly987=) c.2670G>C (p.Gly890=) c.77-1709G>C (n.77-1709G>C) | |
16 | g.51139261C>T | CA495780153 | SALL1 | c.2961G>A (p.Gly987=) c.2670G>A (p.Gly890=) c.77-1709G>A (n.77-1709G>A) | |
16 | g.51139262C>A | CA395882909 | SALL1 | c.2960G>T (p.Gly987Val) c.2669G>T (p.Gly890Val) c.77-1710G>T (n.77-1710G>T) | |
16 | g.51139262C>G | CA395882911 | SALL1 | c.2960G>C (p.Gly987Ala) c.2669G>C (p.Gly890Ala) c.77-1710G>C (n.77-1710G>C) | |
16 | g.51139262C>T | CA395882913 | SALL1 | c.2960G>A (p.Gly987Glu) c.2669G>A (p.Gly890Glu) c.77-1710G>A (n.77-1710G>A) | |
16 | g.51139263C>A | CA395882916 | SALL1 | c.2959G>T (p.Gly987Trp) c.2668G>T (p.Gly890Trp) c.77-1711G>T (n.77-1711G>T) | |
16 | g.51139263C>G | CA395882918 | SALL1 | c.2959G>C (p.Gly987Arg) c.2668G>C (p.Gly890Arg) c.77-1711G>C (n.77-1711G>C) | |
16 | g.51139263C>T | CA395882921 | SALL1 | c.2959G>A (p.Gly987Arg) c.2668G>A (p.Gly890Arg) c.77-1711G>A (n.77-1711G>A) | |
16 | g.51139264C>A | CA395882924 | SALL1 | c.2958G>T (p.Leu986Phe) c.2667G>T (p.Leu889Phe) c.77-1712G>T (n.77-1712G>T) | gnomAD v4 |
16 | g.51139264C>G | CA395882928 | SALL1 | c.2958G>C (p.Leu986Phe) c.2667G>C (p.Leu889Phe) c.77-1712G>C (n.77-1712G>C) | |
16 | g.51139264C>T | CA495780154 | SALL1 | c.2958G>A (p.Leu986=) c.2667G>A (p.Leu889=) c.77-1712G>A (n.77-1712G>A) | |
16 | g.51139265A= | CA2222017647 | SALL1 | c.2957T= (p.Leu986=) c.2666T= (p.Leu889=) c.77-1713T= (n.77-1713T=) | |
16 | g.51139265A>C | CA395882933 | SALL1 | c.2957T>G (p.Leu986Trp) c.2666T>G (p.Leu889Trp) c.77-1713T>G (n.77-1713T>G) | |
16 | g.51139265A>G | CA8053006 | SALL1 | c.2957T>C (p.Leu986Ser) c.2666T>C (p.Leu889Ser) c.77-1713T>C (n.77-1713T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139265A>T | CA395882931 | SALL1 | c.2957T>A (p.Leu986Ter) c.2666T>A (p.Leu889Ter) c.77-1713T>A (n.77-1713T>A) | |
16 | g.51139266A>C | CA395882936 | SALL1 | c.2956T>G (p.Leu986Val) c.2665T>G (p.Leu889Val) c.77-1714T>G (n.77-1714T>G) | |
16 | g.51139266A>G | CA495780156 | SALL1 | c.2956T>C (p.Leu986=) c.2665T>C (p.Leu889=) c.77-1714T>C (n.77-1714T>C) | |
16 | g.51139266A>T | CA395882939 | SALL1 | c.2956T>A (p.Leu986Met) c.2665T>A (p.Leu889Met) c.77-1714T>A (n.77-1714T>A) | gnomAD v4 |
16 | g.51139267A= | CA2222017652 | SALL1 | c.2955T= (p.Ser985=) c.2664T= (p.Ser888=) c.77-1715T= (n.77-1715T=) | |
16 | g.51139267A>C | CA281300958 | SALL1 | c.2955T>G (p.Ser985=) c.2664T>G (p.Ser888=) c.77-1715T>G (n.77-1715T>G) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51139267A>G | CA495780157 | SALL1 | c.2955T>C (p.Ser985=) c.2664T>C (p.Ser888=) c.77-1715T>C (n.77-1715T>C) | |
16 | g.51139267A>T | CA495780158 | SALL1 | c.2955T>A (p.Ser985=) c.2664T>A (p.Ser888=) c.77-1715T>A (n.77-1715T>A) | |
16 | g.51139268G>A | CA395882946 | SALL1 | c.2954C>T (p.Ser985Phe) c.2663C>T (p.Ser888Phe) c.77-1716C>T (n.77-1716C>T) | |
16 | g.51139268G>C | CA395882948 | SALL1 | c.2954C>G (p.Ser985Cys) c.2663C>G (p.Ser888Cys) c.77-1716C>G (n.77-1716C>G) | gnomAD v4 |
16 | g.51139268G>T | CA395882951 | SALL1 | c.2954C>A (p.Ser985Tyr) c.2663C>A (p.Ser888Tyr) c.77-1716C>A (n.77-1716C>A) | |
16 | g.51139269A= | CA2222017657 | SALL1 | c.2953T= (p.Ser985=) c.2662T= (p.Ser888=) c.77-1717T= (n.77-1717T=) | |
16 | g.51139269A>C | CA8053007 | SALL1 | c.2953T>G (p.Ser985Ala) c.2662T>G (p.Ser888Ala) c.77-1717T>G (n.77-1717T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139269A>G | CA395882956 | SALL1 | c.2953T>C (p.Ser985Pro) c.2662T>C (p.Ser888Pro) c.77-1717T>C (n.77-1717T>C) | |
16 | g.51139269A>T | CA395882961 | SALL1 | c.2953T>A (p.Ser985Thr) c.2662T>A (p.Ser888Thr) c.77-1717T>A (n.77-1717T>A) | |
16 | g.51139269_51139270insCACCCAACAC | CA2807012903 | SALL1 | c.2952_2953insGTGTTGGGTG (p.Ser985ValfsTer12) c.2661_2662insGTGTTGGGTG (p.Ser888ValfsTer12) c.77-1718_77-1717insGTGTTGGGTG (n.77-1718_77-1717insGTGTTGGGTG) | |
16 | g.51139270A>C | CA395882965 | SALL1 | c.2952T>G (p.Asp984Glu) c.2661T>G (p.Asp887Glu) c.77-1718T>G (n.77-1718T>G) | |
16 | g.51139270A>G | CA495780160 | SALL1 | c.2952T>C (p.Asp984=) c.2661T>C (p.Asp887=) c.77-1718T>C (n.77-1718T>C) | |
16 | g.51139270A>T | CA395882968 | SALL1 | c.2952T>A (p.Asp984Glu) c.2661T>A (p.Asp887Glu) c.77-1718T>A (n.77-1718T>A) | |
16 | g.51139271T>A | CA395882971 | SALL1 | c.2951A>T (p.Asp984Val) c.2660A>T (p.Asp887Val) c.77-1719A>T (n.77-1719A>T) | |
16 | g.51139271T>C | CA395882973 | SALL1 | c.2951A>G (p.Asp984Gly) c.2660A>G (p.Asp887Gly) c.77-1719A>G (n.77-1719A>G) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51139271T>G | CA395882982 | SALL1 | c.2951A>C (p.Asp984Ala) c.2660A>C (p.Asp887Ala) c.77-1719A>C (n.77-1719A>C) | |
16 | g.51139271T= | CA2222017665 | SALL1 | c.2951A= (p.Asp984=) c.2660A= (p.Asp887=) c.77-1719A= (n.77-1719A=) | |
16 | g.51139275_51139277del | CA2633181094 | SALL1 | c.2949_2951del (p.Glu983del) c.2658_2660del (p.Glu886del) c.77-1721_77-1719del (n.77-1721_77-1719del) | gnomAD v4 |
16 | g.51139272C>A | CA395882987 | SALL1 | c.2950G>T (p.Asp984Tyr) c.2659G>T (p.Asp887Tyr) c.77-1720G>T (n.77-1720G>T) | |
16 | g.51139272C>G | CA395882995 | SALL1 | c.2950G>C (p.Asp984His) c.2659G>C (p.Asp887His) c.77-1720G>C (n.77-1720G>C) | |
16 | g.51139272C>T | CA395882990 | SALL1 | c.2950G>A (p.Asp984Asn) c.2659G>A (p.Asp887Asn) c.77-1720G>A (n.77-1720G>A) | COSMIC |
16 | g.51139272_51139273insCCT | CA2633181095 | SALL1 | c.2949_2950insAGG (p.Glu983_Asp984insArg) c.2658_2659insAGG (p.Glu886_Asp887insArg) c.77-1721_77-1720insAGG (n.77-1721_77-1720insAGG) | gnomAD v4 |
16 | g.51139273T>A | CA395882998 | SALL1 | c.2949A>T (p.Glu983Asp) c.2658A>T (p.Glu886Asp) c.77-1721A>T (n.77-1721A>T) | COSMIC |
16 | g.51139273T>C | CA495780164 | SALL1 | c.2949A>G (p.Glu983=) c.2658A>G (p.Glu886=) c.77-1721A>G (n.77-1721A>G) | dbSNP gnomAD v4 |
16 | g.51139273T>G | CA395883001 | SALL1 | c.2949A>C (p.Glu983Asp) c.2658A>C (p.Glu886Asp) c.77-1721A>C (n.77-1721A>C) | |
16 | g.51139273T= | CA2222017672 | SALL1 | c.2949A= (p.Glu983=) c.2658A= (p.Glu886=) c.77-1721A= (n.77-1721A=) | |
16 | g.51139274T>A | CA395883007 | SALL1 | c.2948A>T (p.Glu983Val) c.2657A>T (p.Glu886Val) c.77-1722A>T (n.77-1722A>T) | |
16 | g.51139274T>C | CA395883010 | SALL1 | c.2948A>G (p.Glu983Gly) c.2657A>G (p.Glu886Gly) c.77-1722A>G (n.77-1722A>G) | |
16 | g.51139274T>G | CA395883017 | SALL1 | c.2948A>C (p.Glu983Ala) c.2657A>C (p.Glu886Ala) c.77-1722A>C (n.77-1722A>C) | |
16 | g.51139275C>A | CA395883019 | SALL1 | c.2947G>T (p.Glu983Ter) c.2656G>T (p.Glu886Ter) c.77-1723G>T (n.77-1723G>T) | |
16 | g.51139275C= | CA2222017677 | SALL1 | c.2947G= (p.Glu983=) c.2656G= (p.Glu886=) c.77-1723G= (n.77-1723G=) | |
16 | g.51139275C>G | CA8053008 | SALL1 | c.2947G>C (p.Glu983Gln) c.2656G>C (p.Glu886Gln) c.77-1723G>C (n.77-1723G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.51139275C>T | CA395883021 | SALL1 | c.2947G>A (p.Glu983Lys) c.2656G>A (p.Glu886Lys) c.77-1723G>A (n.77-1723G>A) | |
16 | g.51139276T>A | CA395883023 | SALL1 | c.2946A>T (p.Lys982Asn) c.2655A>T (p.Lys885Asn) c.77-1724A>T (n.77-1724A>T) | |
16 | g.51139276T>C | CA495780168 | SALL1 | c.2946A>G (p.Lys982=) c.2655A>G (p.Lys885=) c.77-1724A>G (n.77-1724A>G) | gnomAD v4 |
16 | g.51139276T>G | CA395883026 | SALL1 | c.2946A>C (p.Lys982Asn) c.2655A>C (p.Lys885Asn) c.77-1724A>C (n.77-1724A>C) | |
16 | g.51139277T>A | CA395883029 | SALL1 | c.2945A>T (p.Lys982Ile) c.2654A>T (p.Lys885Ile) c.77-1725A>T (n.77-1725A>T) | |
16 | g.51139277T>C | CA8053009 | SALL1 | c.2945A>G (p.Lys982Arg) c.2654A>G (p.Lys885Arg) c.77-1725A>G (n.77-1725A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51139277T>G | CA395883032 | SALL1 | c.2945A>C (p.Lys982Thr) c.2654A>C (p.Lys885Thr) c.77-1725A>C (n.77-1725A>C) | |
16 | g.51139277T= | CA2222017679 | SALL1 | c.2945A= (p.Lys982=) c.2654A= (p.Lys885=) c.77-1725A= (n.77-1725A=) | |
16 | g.51139278T>A | CA395883039 | SALL1 | c.2944A>T (p.Lys982Ter) c.2653A>T (p.Lys885Ter) c.77-1726A>T (n.77-1726A>T) | |
16 | g.51139278T>C | CA395883045 | SALL1 | c.2944A>G (p.Lys982Glu) c.2653A>G (p.Lys885Glu) c.77-1726A>G (n.77-1726A>G) | |
16 | g.51139278T>G | CA395883042 | SALL1 | c.2944A>C (p.Lys982Gln) c.2653A>C (p.Lys885Gln) c.77-1726A>C (n.77-1726A>C) | |
16 | g.51139278_51139307dup | CA622654492 | SALL1 | c.2915_2944dup (p.Ile981_Lys982insMetThrSerSerHisAlaGluLysIleIle) c.2624_2653dup (p.Ile884_Lys885insMetThrSerSerHisAlaGluLysIleIle) c.77-1755_77-1726dup (n.77-1755_77-1726dup) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51139279G>A | CA495780175 | SALL1 | c.2943C>T (p.Ile981=) c.2652C>T (p.Ile884=) c.77-1727C>T (n.77-1727C>T) | |
16 | g.51139279G>C | CA395883049 | SALL1 | c.2943C>G (p.Ile981Met) c.2652C>G (p.Ile884Met) c.77-1727C>G (n.77-1727C>G) | |
16 | g.51139279G>T | CA495780177 | SALL1 | c.2943C>A (p.Ile981=) c.2652C>A (p.Ile884=) c.77-1727C>A (n.77-1727C>A) | |
16 | g.51139280A= | CA2222017688 | SALL1 | c.2942T= (p.Ile981=) c.2651T= (p.Ile884=) c.77-1728T= (n.77-1728T=) | |
16 | g.51139280A>C | CA395883053 | SALL1 | c.2942T>G (p.Ile981Ser) c.2651T>G (p.Ile884Ser) c.77-1728T>G (n.77-1728T>G) | |
16 | g.51139280A>G | CA395883056 | SALL1 | c.2942T>C (p.Ile981Thr) c.2651T>C (p.Ile884Thr) c.77-1728T>C (n.77-1728T>C) | |
16 | g.51139280A>T | CA8053010 | SALL1 | c.2942T>A (p.Ile981Asn) c.2651T>A (p.Ile884Asn) c.77-1728T>A (n.77-1728T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51139281T>A | CA395883062 | SALL1 | c.2941A>T (p.Ile981Phe) c.2650A>T (p.Ile884Phe) c.77-1729A>T (n.77-1729A>T) | |
16 | g.51139281T>C | CA8053011 | SALL1 | c.2941A>G (p.Ile981Val) c.2650A>G (p.Ile884Val) c.77-1729A>G (n.77-1729A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139281T>G | CA395883074 | SALL1 | c.2941A>C (p.Ile981Leu) c.2650A>C (p.Ile884Leu) c.77-1729A>C (n.77-1729A>C) | dbSNP |
16 | g.51139281T= | CA2222017696 | SALL1 | c.2941A= (p.Ile981=) c.2650A= (p.Ile884=) c.77-1729A= (n.77-1729A=) | |
16 | g.51139282G>A | CA495780179 | SALL1 | c.2940C>T (p.Ile980=) c.2649C>T (p.Ile883=) c.77-1730C>T (n.77-1730C>T) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
16 | g.51139282G>C | CA395883077 | SALL1 | c.2940C>G (p.Ile980Met) c.2649C>G (p.Ile883Met) c.77-1730C>G (n.77-1730C>G) | gnomAD v4 |
16 | g.51139282G= | CA2222017701 | SALL1 | c.2940C= (p.Ile980=) c.2649C= (p.Ile883=) c.77-1730C= (n.77-1730C=) | |
16 | g.51139282G>T | CA495780180 | SALL1 | c.2940C>A (p.Ile980=) c.2649C>A (p.Ile883=) c.77-1730C>A (n.77-1730C>A) | |
16 | g.51139283A>C | CA395883081 | SALL1 | c.2939T>G (p.Ile980Ser) c.2648T>G (p.Ile883Ser) c.77-1731T>G (n.77-1731T>G) | |
16 | g.51139283A>G | CA395883085 | SALL1 | c.2939T>C (p.Ile980Thr) c.2648T>C (p.Ile883Thr) c.77-1731T>C (n.77-1731T>C) | |
16 | g.51139283A>T | CA395883088 | SALL1 | c.2939T>A (p.Ile980Asn) c.2648T>A (p.Ile883Asn) c.77-1731T>A (n.77-1731T>A) | |
16 | g.51139284T>A | CA8053012 | SALL1 | c.2938A>T (p.Ile980Phe) c.2647A>T (p.Ile883Phe) c.77-1732A>T (n.77-1732A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139284T>C | CA395883092 | SALL1 | c.2938A>G (p.Ile980Val) c.2647A>G (p.Ile883Val) c.77-1732A>G (n.77-1732A>G) | |
16 | g.51139284T>G | CA395883095 | SALL1 | c.2938A>C (p.Ile980Leu) c.2647A>C (p.Ile883Leu) c.77-1732A>C (n.77-1732A>C) | |
16 | g.51139284T= | CA2222017705 | SALL1 | c.2938A= (p.Ile980=) c.2647A= (p.Ile883=) c.77-1732A= (n.77-1732A=) | |
16 | g.51139285T>A | CA395883101 | SALL1 | c.2937A>T (p.Lys979Asn) c.2646A>T (p.Lys882Asn) c.77-1733A>T (n.77-1733A>T) | |
16 | g.51139285T>C | CA495780184 | SALL1 | c.2937A>G (p.Lys979=) c.2646A>G (p.Lys882=) c.77-1733A>G (n.77-1733A>G) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51139285T>G | CA395883103 | SALL1 | c.2937A>C (p.Lys979Asn) c.2646A>C (p.Lys882Asn) c.77-1733A>C (n.77-1733A>C) | |
16 | g.51139285T= | CA2222017708 | SALL1 | c.2937A= (p.Lys979=) c.2646A= (p.Lys882=) c.77-1733A= (n.77-1733A=) | |
16 | g.51139286T>A | CA395883108 | SALL1 | c.2936A>T (p.Lys979Ile) c.2645A>T (p.Lys882Ile) c.77-1734A>T (n.77-1734A>T) | |
16 | g.51139286T>C | CA395883111 | SALL1 | c.2936A>G (p.Lys979Arg) c.2645A>G (p.Lys882Arg) c.77-1734A>G (n.77-1734A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139286T>G | CA395883113 | SALL1 | c.2936A>C (p.Lys979Thr) c.2645A>C (p.Lys882Thr) c.77-1734A>C (n.77-1734A>C) | |
16 | g.51139286T= | CA2222017711 | SALL1 | c.2936A= (p.Lys979=) c.2645A= (p.Lys882=) c.77-1734A= (n.77-1734A=) | |
16 | g.51139287T>A | CA395883116 | SALL1 | c.2935A>T (p.Lys979Ter) c.2644A>T (p.Lys882Ter) c.77-1735A>T (n.77-1735A>T) | |
16 | g.51139287T>C | CA395883120 | SALL1 | c.2935A>G (p.Lys979Glu) c.2644A>G (p.Lys882Glu) c.77-1735A>G (n.77-1735A>G) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51139287T>G | CA395883125 | SALL1 | c.2935A>C (p.Lys979Gln) c.2644A>C (p.Lys882Gln) c.77-1735A>C (n.77-1735A>C) | |
16 | g.51139287T= | CA2222017714 | SALL1 | c.2935A= (p.Lys979=) c.2644A= (p.Lys882=) c.77-1735A= (n.77-1735A=) | |
16 | g.51139288C>A | CA395883127 | SALL1 | c.2934G>T (p.Glu978Asp) c.2643G>T (p.Glu881Asp) c.77-1736G>T (n.77-1736G>T) | |
16 | g.51139288C>G | CA395883129 | SALL1 | c.2934G>C (p.Glu978Asp) c.2643G>C (p.Glu881Asp) c.77-1736G>C (n.77-1736G>C) | gnomAD v4 |
16 | g.51139288C>T | CA495780191 | SALL1 | c.2934G>A (p.Glu978=) c.2643G>A (p.Glu881=) c.77-1736G>A (n.77-1736G>A) | |
16 | g.51139289T>A | CA395883134 | SALL1 | c.2933A>T (p.Glu978Val) c.2642A>T (p.Glu881Val) c.77-1737A>T (n.77-1737A>T) | |
16 | g.51139289T>C | CA395883137 | SALL1 | c.2933A>G (p.Glu978Gly) c.2642A>G (p.Glu881Gly) c.77-1737A>G (n.77-1737A>G) | |
16 | g.51139289T>G | CA395883132 | SALL1 | c.2933A>C (p.Glu978Ala) c.2642A>C (p.Glu881Ala) c.77-1737A>C (n.77-1737A>C) | |
16 | g.51139290C>A | CA395883140 | SALL1 | c.2932G>T (p.Glu978Ter) c.2641G>T (p.Glu881Ter) c.77-1738G>T (n.77-1738G>T) | |
16 | g.51139290C>G | CA395883143 | SALL1 | c.2932G>C (p.Glu978Gln) c.2641G>C (p.Glu881Gln) c.77-1738G>C (n.77-1738G>C) | |
16 | g.51139290C>T | CA395883147 | SALL1 | c.2932G>A (p.Glu978Lys) c.2641G>A (p.Glu881Lys) c.77-1738G>A (n.77-1738G>A) | |
16 | g.51139291T>A | CA495780195 | SALL1 | c.2931A>T (p.Ala977=) c.2640A>T (p.Ala880=) c.77-1739A>T (n.77-1739A>T) | |
16 | g.51139291T>C | CA495780196 | SALL1 | c.2931A>G (p.Ala977=) c.2640A>G (p.Ala880=) c.77-1739A>G (n.77-1739A>G) | |
16 | g.51139291T>G | CA495780197 | SALL1 | c.2931A>C (p.Ala977=) c.2640A>C (p.Ala880=) c.77-1739A>C (n.77-1739A>C) | |
16 | g.51139292G>A | CA395883150 | SALL1 | c.2930C>T (p.Ala977Val) c.2639C>T (p.Ala880Val) c.77-1740C>T (n.77-1740C>T) | |
16 | g.51139292G>C | CA395883152 | SALL1 | c.2930C>G (p.Ala977Gly) c.2639C>G (p.Ala880Gly) c.77-1740C>G (n.77-1740C>G) | |
16 | g.51139292G>T | CA395883155 | SALL1 | c.2930C>A (p.Ala977Glu) c.2639C>A (p.Ala880Glu) c.77-1740C>A (n.77-1740C>A) | |
16 | g.51139293C>A | CA395883160 | SALL1 | c.2929G>T (p.Ala977Ser) c.2638G>T (p.Ala880Ser) c.77-1741G>T (n.77-1741G>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51139293C= | CA2222017717 | SALL1 | c.2929G= (p.Ala977=) c.2638G= (p.Ala880=) c.77-1741G= (n.77-1741G=) | |
16 | g.51139293C>G | CA395883163 | SALL1 | c.2929G>C (p.Ala977Pro) c.2638G>C (p.Ala880Pro) c.77-1741G>C (n.77-1741G>C) | |
16 | g.51139293C>T | CA8053013 | SALL1 | c.2929G>A (p.Ala977Thr) c.2638G>A (p.Ala880Thr) c.77-1741G>A (n.77-1741G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139294G>A | CA8053014 | SALL1 | c.2928C>T (p.His976=) c.2637C>T (p.His879=) c.77-1742C>T (n.77-1742C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.51139294G>C | CA395883169 | SALL1 | c.2928C>G (p.His976Gln) c.2637C>G (p.His879Gln) c.77-1742C>G (n.77-1742C>G) | gnomAD v4 |
16 | g.51139294G= | CA2222017722 | SALL1 | c.2928C= (p.His976=) c.2637C= (p.His879=) c.77-1742C= (n.77-1742C=) | |
16 | g.51139294G>T | CA395883176 | SALL1 | c.2928C>A (p.His976Gln) c.2637C>A (p.His879Gln) c.77-1742C>A (n.77-1742C>A) | |
16 | g.51139295T>A | CA395883181 | SALL1 | c.2927A>T (p.His976Leu) c.2636A>T (p.His879Leu) c.77-1743A>T (n.77-1743A>T) | |
16 | g.51139295T>C | CA395883185 | SALL1 | c.2927A>G (p.His976Arg) c.2636A>G (p.His879Arg) c.77-1743A>G (n.77-1743A>G) | |
16 | g.51139295T>G | CA395883178 | SALL1 | c.2927A>C (p.His976Pro) c.2636A>C (p.His879Pro) c.77-1743A>C (n.77-1743A>C) | gnomAD v4 COSMIC |
16 | g.51139296G>A | CA395883189 | SALL1 | c.2926C>T (p.His976Tyr) c.2635C>T (p.His879Tyr) c.77-1744C>T (n.77-1744C>T) | |
16 | g.51139296G>C | CA395883190 | SALL1 | c.2926C>G (p.His976Asp) c.2635C>G (p.His879Asp) c.77-1744C>G (n.77-1744C>G) | |
16 | g.51139296G>T | CA395883195 | SALL1 | c.2926C>A (p.His976Asn) c.2635C>A (p.His879Asn) c.77-1744C>A (n.77-1744C>A) | |
16 | g.51139297A>C | CA395883197 | SALL1 | c.2925T>G (p.Ser975Arg) c.2634T>G (p.Ser878Arg) c.77-1745T>G (n.77-1745T>G) | |
16 | g.51139297A>G | CA495780204 | SALL1 | c.2925T>C (p.Ser975=) c.2634T>C (p.Ser878=) c.77-1745T>C (n.77-1745T>C) | |
16 | g.51139297A>T | CA395883199 | SALL1 | c.2925T>A (p.Ser975Arg) c.2634T>A (p.Ser878Arg) c.77-1745T>A (n.77-1745T>A) | |
16 | g.51139298C>A | CA395883211 | SALL1 | c.2924G>T (p.Ser975Ile) c.2633G>T (p.Ser878Ile) c.77-1746G>T (n.77-1746G>T) | |
16 | g.51139298C= | CA2222017725 | SALL1 | c.2924G= (p.Ser975=) c.2633G= (p.Ser878=) c.77-1746G= (n.77-1746G=) | |
16 | g.51139298C>G | CA395883206 | SALL1 | c.2924G>C (p.Ser975Thr) c.2633G>C (p.Ser878Thr) c.77-1746G>C (n.77-1746G>C) | |
16 | g.51139298C>T | CA8053015 | SALL1 | c.2924G>A (p.Ser975Asn) c.2633G>A (p.Ser878Asn) c.77-1746G>A (n.77-1746G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139299T>A | CA395883217 | SALL1 | c.2923A>T (p.Ser975Cys) c.2632A>T (p.Ser878Cys) c.77-1747A>T (n.77-1747A>T) | |
16 | g.51139299T>C | CA395883220 | SALL1 | c.2923A>G (p.Ser975Gly) c.2632A>G (p.Ser878Gly) c.77-1747A>G (n.77-1747A>G) | ClinVar gnomAD v4 |
16 | g.51139299T>G | CA395883223 | SALL1 | c.2923A>C (p.Ser975Arg) c.2632A>C (p.Ser878Arg) c.77-1747A>C (n.77-1747A>C) | gnomAD v4 |
16 | g.51139300A= | CA2222017728 | SALL1 | c.2922T= (p.Ser974=) c.2631T= (p.Ser877=) c.77-1748T= (n.77-1748T=) | |
16 | g.51139300A>C | CA495780210 | SALL1 | c.2922T>G (p.Ser974=) c.2631T>G (p.Ser877=) c.77-1748T>G (n.77-1748T>G) | gnomAD v4 |
16 | g.51139300A>G | CA495780211 | SALL1 | c.2922T>C (p.Ser974=) c.2631T>C (p.Ser877=) c.77-1748T>C (n.77-1748T>C) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51139300A>T | CA495780212 | SALL1 | c.2922T>A (p.Ser974=) c.2631T>A (p.Ser877=) c.77-1748T>A (n.77-1748T>A) | |
16 | g.51139301G>A | CA8053016 | SALL1 | c.2921C>T (p.Ser974Phe) c.2630C>T (p.Ser877Phe) c.77-1749C>T (n.77-1749C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51139301G>C | CA395883225 | SALL1 | c.2921C>G (p.Ser974Cys) c.2630C>G (p.Ser877Cys) c.77-1749C>G (n.77-1749C>G) | gnomAD v4 |
16 | g.51139301G= | CA2222017732 | SALL1 | c.2921C= (p.Ser974=) c.2630C= (p.Ser877=) c.77-1749C= (n.77-1749C=) | |
16 | g.51139301G>T | CA395883233 | SALL1 | c.2921C>A (p.Ser974Tyr) c.2630C>A (p.Ser877Tyr) c.77-1749C>A (n.77-1749C>A) | |
16 | g.51139302A= | CA2222017736 | SALL1 | c.2920T= (p.Ser974=) c.2629T= (p.Ser877=) c.77-1750T= (n.77-1750T=) | |
16 | g.51139302A>C | CA395883239 | SALL1 | c.2920T>G (p.Ser974Ala) c.2629T>G (p.Ser877Ala) c.77-1750T>G (n.77-1750T>G) | dbSNP |
16 | g.51139302A>G | CA8053017 | SALL1 | c.2920T>C (p.Ser974Pro) c.2629T>C (p.Ser877Pro) c.77-1750T>C (n.77-1750T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139302A>T | CA395883236 | SALL1 | c.2920T>A (p.Ser974Thr) c.2629T>A (p.Ser877Thr) c.77-1750T>A (n.77-1750T>A) | |
16 | g.51139303T>A | CA495780216 | SALL1 | c.2919A>T (p.Thr973=) c.2628A>T (p.Thr876=) c.77-1751A>T (n.77-1751A>T) | gnomAD v4 |
16 | g.51139303T>C | CA495780218 | SALL1 | c.2919A>G (p.Thr973=) c.2628A>G (p.Thr876=) c.77-1751A>G (n.77-1751A>G) | |
16 | g.51139303T>G | CA495780219 | SALL1 | c.2919A>C (p.Thr973=) c.2628A>C (p.Thr876=) c.77-1751A>C (n.77-1751A>C) | |
16 | g.51139304G>A | CA395883252 | SALL1 | c.2918C>T (p.Thr973Ile) c.2627C>T (p.Thr876Ile) c.77-1752C>T (n.77-1752C>T) | |
16 | g.51139304G>C | CA395883247 | SALL1 | c.2918C>G (p.Thr973Arg) c.2627C>G (p.Thr876Arg) c.77-1752C>G (n.77-1752C>G) | |
16 | g.51139304G>T | CA395883250 | SALL1 | c.2918C>A (p.Thr973Lys) c.2627C>A (p.Thr876Lys) c.77-1752C>A (n.77-1752C>A) | gnomAD v4 |
16 | g.51139305T>A | CA395883255 | SALL1 | c.2917A>T (p.Thr973Ser) c.2626A>T (p.Thr876Ser) c.77-1753A>T (n.77-1753A>T) | |
16 | g.51139305T>C | CA395883257 | SALL1 | c.2917A>G (p.Thr973Ala) c.2626A>G (p.Thr876Ala) c.77-1753A>G (n.77-1753A>G) | |
16 | g.51139305T>G | CA395883260 | SALL1 | c.2917A>C (p.Thr973Pro) c.2626A>C (p.Thr876Pro) c.77-1753A>C (n.77-1753A>C) | |
16 | g.51139306C>A | CA395883264 | SALL1 | c.2916G>T (p.Leu972Phe) c.2625G>T (p.Leu875Phe) c.77-1754G>T (n.77-1754G>T) | gnomAD v4 |
16 | g.51139306C>G | CA395883270 | SALL1 | c.2916G>C (p.Leu972Phe) c.2625G>C (p.Leu875Phe) c.77-1754G>C (n.77-1754G>C) | |
16 | g.51139306C>T | CA495780223 | SALL1 | c.2916G>A (p.Leu972=) c.2625G>A (p.Leu875=) c.77-1754G>A (n.77-1754G>A) | |
16 | g.51139307A>C | CA395883272 | SALL1 | c.2915T>G (p.Leu972Trp) c.2624T>G (p.Leu875Trp) c.77-1755T>G (n.77-1755T>G) | |
16 | g.51139307A>G | CA395883274 | SALL1 | c.2915T>C (p.Leu972Ser) c.2624T>C (p.Leu875Ser) c.77-1755T>C (n.77-1755T>C) | |
16 | g.51139307A>T | CA395883273 | SALL1 | c.2915T>A (p.Leu972Ter) c.2624T>A (p.Leu875Ter) c.77-1755T>A (n.77-1755T>A) | |
16 | g.51139308A= | CA2222017742 | SALL1 | c.2914T= (p.Leu972=) c.2623T= (p.Leu875=) c.77-1756T= (n.77-1756T=) | |
16 | g.51139308A>C | CA395883275 | SALL1 | c.2914T>G (p.Leu972Val) c.2623T>G (p.Leu875Val) c.77-1756T>G (n.77-1756T>G) | dbSNP |
16 | g.51139308A>G | CA495780224 | SALL1 | c.2914T>C (p.Leu972=) c.2623T>C (p.Leu875=) c.77-1756T>C (n.77-1756T>C) | dbSNP gnomAD v4 |
16 | g.51139308A>T | CA395883276 | SALL1 | c.2914T>A (p.Leu972Met) c.2623T>A (p.Leu875Met) c.77-1756T>A (n.77-1756T>A) | dbSNP |
16 | g.51139309A>C | CA395883278 | SALL1 | c.2913T>G (p.Asp971Glu) c.2622T>G (p.Asp874Glu) c.77-1757T>G (n.77-1757T>G) | |
16 | g.51139309A>G | CA495780226 | SALL1 | c.2913T>C (p.Asp971=) c.2622T>C (p.Asp874=) c.77-1757T>C (n.77-1757T>C) | |
16 | g.51139309A>T | CA395883280 | SALL1 | c.2913T>A (p.Asp971Glu) c.2622T>A (p.Asp874Glu) c.77-1757T>A (n.77-1757T>A) | |
16 | g.51139310T>A | CA395883284 | SALL1 | c.2912A>T (p.Asp971Val) c.2621A>T (p.Asp874Val) c.77-1758A>T (n.77-1758A>T) | |
16 | g.51139310T>C | CA395883282 | SALL1 | c.2912A>G (p.Asp971Gly) c.2621A>G (p.Asp874Gly) c.77-1758A>G (n.77-1758A>G) | gnomAD v4 |
16 | g.51139310T>G | CA395883283 | SALL1 | c.2912A>C (p.Asp971Ala) c.2621A>C (p.Asp874Ala) c.77-1758A>C (n.77-1758A>C) | |
16 | g.51139311C>A | CA395883287 | SALL1 | c.2911G>T (p.Asp971Tyr) c.2620G>T (p.Asp874Tyr) c.77-1759G>T (n.77-1759G>T) | |
16 | g.51139311C>G | CA395883289 | SALL1 | c.2911G>C (p.Asp971His) c.2620G>C (p.Asp874His) c.77-1759G>C (n.77-1759G>C) | gnomAD v4 |
16 | g.51139311C>T | CA395883290 | SALL1 | c.2911G>A (p.Asp971Asn) c.2620G>A (p.Asp874Asn) c.77-1759G>A (n.77-1759G>A) | COSMIC |
16 | g.51139312C>A | CA395883291 | SALL1 | c.2910G>T (p.Leu970Phe) c.2619G>T (p.Leu873Phe) c.77-1760G>T (n.77-1760G>T) | |
16 | g.51139312C>G | CA395883292 | SALL1 | c.2910G>C (p.Leu970Phe) c.2619G>C (p.Leu873Phe) c.77-1760G>C (n.77-1760G>C) | |
16 | g.51139312C>T | CA495780228 | SALL1 | c.2910G>A (p.Leu970=) c.2619G>A (p.Leu873=) c.77-1760G>A (n.77-1760G>A) | |
16 | g.51139313A= | CA2222017752 | SALL1 | c.2909T= (p.Leu970=) c.2618T= (p.Leu873=) c.77-1761T= (n.77-1761T=) | |
16 | g.51139313A>C | CA395883293 | SALL1 | c.2909T>G (p.Leu970Trp) c.2618T>G (p.Leu873Trp) c.77-1761T>G (n.77-1761T>G) | |
16 | g.51139313A>G | CA395883295 | SALL1 | c.2909T>C (p.Leu970Ser) c.2618T>C (p.Leu873Ser) c.77-1761T>C (n.77-1761T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139313A>T | CA395883297 | SALL1 | c.2909T>A (p.Leu970Ter) c.2618T>A (p.Leu873Ter) c.77-1761T>A (n.77-1761T>A) | |
16 | g.51139314A>C | CA395883299 | SALL1 | c.2908T>G (p.Leu970Val) c.2617T>G (p.Leu873Val) c.77-1762T>G (n.77-1762T>G) | |
16 | g.51139314A>G | CA495780230 | SALL1 | c.2908T>C (p.Leu970=) c.2617T>C (p.Leu873=) c.77-1762T>C (n.77-1762T>C) | |
16 | g.51139314A>T | CA395883301 | SALL1 | c.2908T>A (p.Leu970Met) c.2617T>A (p.Leu873Met) c.77-1762T>A (n.77-1762T>A) | |
16 | g.51139315A= | CA2222017762 | SALL1 | c.2907T= (p.Ala969=) c.2616T= (p.Ala872=) c.77-1763T= (n.77-1763T=) | |
16 | g.51139315A>C | CA495780231 | SALL1 | c.2907T>G (p.Ala969=) c.2616T>G (p.Ala872=) c.77-1763T>G (n.77-1763T>G) | |
16 | g.51139315A>G | CA281301012 | SALL1 | c.2907T>C (p.Ala969=) c.2616T>C (p.Ala872=) c.77-1763T>C (n.77-1763T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139315A>T | CA495780232 | SALL1 | c.2907T>A (p.Ala969=) c.2616T>A (p.Ala872=) c.77-1763T>A (n.77-1763T>A) | |
16 | g.51139316G>A | CA395883303 | SALL1 | c.2906C>T (p.Ala969Val) c.2615C>T (p.Ala872Val) c.77-1764C>T (n.77-1764C>T) | |
16 | g.51139316G>C | CA395883305 | SALL1 | c.2906C>G (p.Ala969Gly) c.2615C>G (p.Ala872Gly) c.77-1764C>G (n.77-1764C>G) | gnomAD v4 |
16 | g.51139316G>T | CA395883306 | SALL1 | c.2906C>A (p.Ala969Asp) c.2615C>A (p.Ala872Asp) c.77-1764C>A (n.77-1764C>A) | |
16 | g.51139317C>A | CA395883309 | SALL1 | c.2905G>T (p.Ala969Ser) c.2614G>T (p.Ala872Ser) c.77-1765G>T (n.77-1765G>T) | |
16 | g.51139317C= | CA2222017770 | SALL1 | c.2905G= (p.Ala969=) c.2614G= (p.Ala872=) c.77-1765G= (n.77-1765G=) | |
16 | g.51139317C>G | CA395883312 | SALL1 | c.2905G>C (p.Ala969Pro) c.2614G>C (p.Ala872Pro) c.77-1765G>C (n.77-1765G>C) | |
16 | g.51139317C>T | CA8053018 | SALL1 | c.2905G>A (p.Ala969Thr) c.2614G>A (p.Ala872Thr) c.77-1765G>A (n.77-1765G>A) | dbSNP ExAC |
16 | g.51139318C>A | CA495780234 | SALL1 | c.2904G>T (p.Gly968=) c.2613G>T (p.Gly871=) c.77-1766G>T (n.77-1766G>T) | gnomAD v4 |
16 | g.51139318C= | CA2222017774 | SALL1 | c.2904G= (p.Gly968=) c.2613G= (p.Gly871=) c.77-1766G= (n.77-1766G=) | |
16 | g.51139318C>G | CA495780235 | SALL1 | c.2904G>C (p.Gly968=) c.2613G>C (p.Gly871=) c.77-1766G>C (n.77-1766G>C) | dbSNP |
16 | g.51139318C>T | CA8053019 | SALL1 | c.2904G>A (p.Gly968=) c.2613G>A (p.Gly871=) c.77-1766G>A (n.77-1766G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.51139319C>A | CA395883316 | SALL1 | c.2903G>T (p.Gly968Val) c.2612G>T (p.Gly871Val) c.77-1767G>T (n.77-1767G>T) | |
16 | g.51139319C>G | CA395883318 | SALL1 | c.2903G>C (p.Gly968Ala) c.2612G>C (p.Gly871Ala) c.77-1767G>C (n.77-1767G>C) | |
16 | g.51139319C>T | CA395883320 | SALL1 | c.2903G>A (p.Gly968Glu) c.2612G>A (p.Gly871Glu) c.77-1767G>A (n.77-1767G>A) | gnomAD v4 COSMIC |
16 | g.51139320C>A | CA395883322 | SALL1 | c.2902G>T (p.Gly968Trp) c.2611G>T (p.Gly871Trp) c.77-1768G>T (n.77-1768G>T) | |
16 | g.51139320C>G | CA395883323 | SALL1 | c.2902G>C (p.Gly968Arg) c.2611G>C (p.Gly871Arg) c.77-1768G>C (n.77-1768G>C) | |
16 | g.51139320C>T | CA395883325 | SALL1 | c.2902G>A (p.Gly968Arg) c.2611G>A (p.Gly871Arg) c.77-1768G>A (n.77-1768G>A) | |
16 | g.51139321A>C | CA495780242 | SALL1 | c.2901T>G (p.Gly967=) c.2610T>G (p.Gly870=) c.77-1769T>G (n.77-1769T>G) | |
16 | g.51139321A>G | CA495780243 | SALL1 | c.2901T>C (p.Gly967=) c.2610T>C (p.Gly870=) c.77-1769T>C (n.77-1769T>C) | |
16 | g.51139321A>T | CA495780244 | SALL1 | c.2901T>A (p.Gly967=) c.2610T>A (p.Gly870=) c.77-1769T>A (n.77-1769T>A) | |
16 | g.51139322C>A | CA395883327 | SALL1 | c.2900G>T (p.Gly967Val) c.2609G>T (p.Gly870Val) c.77-1770G>T (n.77-1770G>T) | |
16 | g.51139322C= | CA2222017777 | SALL1 | c.2900G= (p.Gly967=) c.2609G= (p.Gly870=) c.77-1770G= (n.77-1770G=) | |
16 | g.51139322C>G | CA395883329 | SALL1 | c.2900G>C (p.Gly967Ala) c.2609G>C (p.Gly870Ala) c.77-1770G>C (n.77-1770G>C) | |
16 | g.51139322C>T | CA395883331 | SALL1 | c.2900G>A (p.Gly967Asp) c.2609G>A (p.Gly870Asp) c.77-1770G>A (n.77-1770G>A) | dbSNP gnomAD v4 |
16 | g.51139323C>A | CA8053020 | SALL1 | c.2899G>T (p.Gly967Cys) c.2608G>T (p.Gly870Cys) c.77-1771G>T (n.77-1771G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139323C= | CA2222017780 | SALL1 | c.2899G= (p.Gly967=) c.2608G= (p.Gly870=) c.77-1771G= (n.77-1771G=) | |
16 | g.51139323C>G | CA395883333 | SALL1 | c.2899G>C (p.Gly967Arg) c.2608G>C (p.Gly870Arg) c.77-1771G>C (n.77-1771G>C) | |
16 | g.51139323C>T | CA395883335 | SALL1 | c.2899G>A (p.Gly967Ser) c.2608G>A (p.Gly870Ser) c.77-1771G>A (n.77-1771G>A) | |
16 | g.51139324A>C | CA395883340 | SALL1 | c.2898T>G (p.Asn966Lys) c.2607T>G (p.Asn869Lys) c.77-1772T>G (n.77-1772T>G) | |
16 | g.51139324A>G | CA495780061 | SALL1 | c.2898T>C (p.Asn966=) c.2607T>C (p.Asn869=) c.77-1772T>C (n.77-1772T>C) | gnomAD v4 |
16 | g.51139324A>T | CA395883338 | SALL1 | c.2898T>A (p.Asn966Lys) c.2607T>A (p.Asn869Lys) c.77-1772T>A (n.77-1772T>A) | gnomAD v4 |
16 | g.51139325T>A | CA395883342 | SALL1 | c.2897A>T (p.Asn966Ile) c.2606A>T (p.Asn869Ile) c.77-1773A>T (n.77-1773A>T) | |
16 | g.51139325T>C | CA395883344 | SALL1 | c.2897A>G (p.Asn966Ser) c.2606A>G (p.Asn869Ser) c.77-1773A>G (n.77-1773A>G) | |
16 | g.51139325T>G | CA395883345 | SALL1 | c.2897A>C (p.Asn966Thr) c.2606A>C (p.Asn869Thr) c.77-1773A>C (n.77-1773A>C) | |
16 | g.51139326T>A | CA395883348 | SALL1 | c.2896A>T (p.Asn966Tyr) c.2605A>T (p.Asn869Tyr) c.77-1774A>T (n.77-1774A>T) | |
16 | g.51139326T>C | CA395883350 | SALL1 | c.2896A>G (p.Asn966Asp) c.2605A>G (p.Asn869Asp) c.77-1774A>G (n.77-1774A>G) | |
16 | g.51139326T>G | CA395883351 | SALL1 | c.2896A>C (p.Asn966His) c.2605A>C (p.Asn869His) c.77-1774A>C (n.77-1774A>C) | |
16 | g.51139327C>A | CA495780062 | SALL1 | c.2895G>T (p.Val965=) c.2604G>T (p.Val868=) c.77-1775G>T (n.77-1775G>T) | |
16 | g.51139327C= | CA2222017782 | SALL1 | c.2895G= (p.Val965=) c.2604G= (p.Val868=) c.77-1775G= (n.77-1775G=) | |
16 | g.51139327C>G | CA495780063 | SALL1 | c.2895G>C (p.Val965=) c.2604G>C (p.Val868=) c.77-1775G>C (n.77-1775G>C) | |
16 | g.51139327C>T | CA495780064 | SALL1 | c.2895G>A (p.Val965=) c.2604G>A (p.Val868=) c.77-1775G>A (n.77-1775G>A) | dbSNP |
16 | g.51139328A>C | CA395883353 | SALL1 | c.2894T>G (p.Val965Gly) c.2603T>G (p.Val868Gly) c.77-1776T>G (n.77-1776T>G) | |
16 | g.51139328A>G | CA395883354 | SALL1 | c.2894T>C (p.Val965Ala) c.2603T>C (p.Val868Ala) c.77-1776T>C (n.77-1776T>C) | |
16 | g.51139328A>T | CA395883356 | SALL1 | c.2894T>A (p.Val965Glu) c.2603T>A (p.Val868Glu) c.77-1776T>A (n.77-1776T>A) | |
16 | g.51139329C>A | CA8053021 | SALL1 | c.2893G>T (p.Val965Leu) c.2602G>T (p.Val868Leu) c.77-1777G>T (n.77-1777G>T) | dbSNP ExAC gnomAD v2 |
16 | g.51139329C= | CA2222017786 | SALL1 | c.2893G= (p.Val965=) c.2602G= (p.Val868=) c.77-1777G= (n.77-1777G=) | |
16 | g.51139329C>G | CA395883359 | SALL1 | c.2893G>C (p.Val965Leu) c.2602G>C (p.Val868Leu) c.77-1777G>C (n.77-1777G>C) | |
16 | g.51139329C>T | CA395883361 | SALL1 | c.2893G>A (p.Val965Met) c.2602G>A (p.Val868Met) c.77-1777G>A (n.77-1777G>A) | gnomAD v4 |
16 | g.51139330T>A | CA495780065 | SALL1 | c.2892A>T (p.Pro964=) c.2601A>T (p.Pro867=) c.77-1778A>T (n.77-1778A>T) | |
16 | g.51139330T>C | CA495780066 | SALL1 | c.2892A>G (p.Pro964=) c.2601A>G (p.Pro867=) c.77-1778A>G (n.77-1778A>G) | gnomAD v4 |
16 | g.51139330T>G | CA495780067 | SALL1 | c.2892A>C (p.Pro964=) c.2601A>C (p.Pro867=) c.77-1778A>C (n.77-1778A>C) | |
16 | g.51139331G>A | CA395883366 | SALL1 | c.2891C>T (p.Pro964Leu) c.2600C>T (p.Pro867Leu) c.77-1779C>T (n.77-1779C>T) | |
16 | g.51139331G>C | CA395883365 | SALL1 | c.2891C>G (p.Pro964Arg) c.2600C>G (p.Pro867Arg) c.77-1779C>G (n.77-1779C>G) | |
16 | g.51139331G>T | CA395883363 | SALL1 | c.2891C>A (p.Pro964Gln) c.2600C>A (p.Pro867Gln) c.77-1779C>A (n.77-1779C>A) | gnomAD v4 |
16 | g.51139332G>A | CA395883367 | SALL1 | c.2890C>T (p.Pro964Ser) c.2599C>T (p.Pro867Ser) c.77-1780C>T (n.77-1780C>T) | COSMIC |
16 | g.51139332G>C | CA395883369 | SALL1 | c.2890C>G (p.Pro964Ala) c.2599C>G (p.Pro867Ala) c.77-1780C>G (n.77-1780C>G) | |
16 | g.51139332G>T | CA395883371 | SALL1 | c.2890C>A (p.Pro964Thr) c.2599C>A (p.Pro867Thr) c.77-1780C>A (n.77-1780C>A) | gnomAD v4 |
16 | g.51139333G>A | CA281301020 | SALL1 | c.2889C>T (p.Thr963=) c.2598C>T (p.Thr866=) c.77-1781C>T (n.77-1781C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139333G>C | CA495780068 | SALL1 | c.2889C>G (p.Thr963=) c.2598C>G (p.Thr866=) c.77-1781C>G (n.77-1781C>G) | |
16 | g.51139333G= | CA2222017789 | SALL1 | c.2889C= (p.Thr963=) c.2598C= (p.Thr866=) c.77-1781C= (n.77-1781C=) | |
16 | g.51139333G>T | CA495780069 | SALL1 | c.2889C>A (p.Thr963=) c.2598C>A (p.Thr866=) c.77-1781C>A (n.77-1781C>A) | |
16 | g.51139334G>A | CA395883373 | SALL1 | c.2888C>T (p.Thr963Ile) c.2597C>T (p.Thr866Ile) c.77-1782C>T (n.77-1782C>T) | dbSNP |
16 | g.51139334G>C | CA395883375 | SALL1 | c.2888C>G (p.Thr963Ser) c.2597C>G (p.Thr866Ser) c.77-1782C>G (n.77-1782C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139334G= | CA2222017792 | SALL1 | c.2888C= (p.Thr963=) c.2597C= (p.Thr866=) c.77-1782C= (n.77-1782C=) | |
16 | g.51139334G>T | CA395883377 | SALL1 | c.2888C>A (p.Thr963Asn) c.2597C>A (p.Thr866Asn) c.77-1782C>A (n.77-1782C>A) | |
16 | g.51139335T>A | CA395883382 | SALL1 | c.2887A>T (p.Thr963Ser) c.2596A>T (p.Thr866Ser) c.77-1783A>T (n.77-1783A>T) | |
16 | g.51139335T>C | CA395883381 | SALL1 | c.2887A>G (p.Thr963Ala) c.2596A>G (p.Thr866Ala) c.77-1783A>G (n.77-1783A>G) | |
16 | g.51139335T>G | CA395883379 | SALL1 | c.2887A>C (p.Thr963Pro) c.2596A>C (p.Thr866Pro) c.77-1783A>C (n.77-1783A>C) | |
16 | g.51139336G>A | CA495780070 | SALL1 | c.2886C>T (p.Pro962=) c.2595C>T (p.Pro865=) c.77-1784C>T (n.77-1784C>T) | |
16 | g.51139336G>C | CA495780071 | SALL1 | c.2886C>G (p.Pro962=) c.2595C>G (p.Pro865=) c.77-1784C>G (n.77-1784C>G) | |
16 | g.51139336G>T | CA495780072 | SALL1 | c.2886C>A (p.Pro962=) c.2595C>A (p.Pro865=) c.77-1784C>A (n.77-1784C>A) |