Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.51139190_51139203dup | CA2695223344 | SALL1 | c.3019_3032dup (p.Cys1012AlafsTer?) c.2728_2741dup (p.Cys915AlafsTer?) c.77-1651_77-1638dup (n.77-1651_77-1638dup) | |
16 | g.51139198T>A | CA395882441 | SALL1 | c.3024A>T (p.Lys1008Asn) c.2733A>T (p.Lys911Asn) c.77-1646A>T (n.77-1646A>T) | |
16 | g.51139198T>C | CA495780098 | SALL1 | c.3024A>G (p.Lys1008=) c.2733A>G (p.Lys911=) c.77-1646A>G (n.77-1646A>G) | |
16 | g.51139198T>G | CA395882443 | SALL1 | c.3024A>C (p.Lys1008Asn) c.2733A>C (p.Lys911Asn) c.77-1646A>C (n.77-1646A>C) | |
16 | g.51139199T>A | CA395882446 | SALL1 | c.3023A>T (p.Lys1008Ile) c.2732A>T (p.Lys911Ile) c.77-1647A>T (n.77-1647A>T) | |
16 | g.51139199T>C | CA395882450 | SALL1 | c.3023A>G (p.Lys1008Arg) c.2732A>G (p.Lys911Arg) c.77-1647A>G (n.77-1647A>G) | |
16 | g.51139199T>G | CA395882453 | SALL1 | c.3023A>C (p.Lys1008Thr) c.2732A>C (p.Lys911Thr) c.77-1647A>C (n.77-1647A>C) | |
16 | g.51139200T>A | CA395882457 | SALL1 | c.3022A>T (p.Lys1008Ter) c.2731A>T (p.Lys911Ter) c.77-1648A>T (n.77-1648A>T) | |
16 | g.51139200T>C | CA395882456 | SALL1 | c.3022A>G (p.Lys1008Glu) c.2731A>G (p.Lys911Glu) c.77-1648A>G (n.77-1648A>G) | |
16 | g.51139200T>G | CA395882455 | SALL1 | c.3022A>C (p.Lys1008Gln) c.2731A>C (p.Lys911Gln) c.77-1648A>C (n.77-1648A>C) | |
16 | g.51139201G>A | CA495780100 | SALL1 | c.3021C>T (p.Gly1007=) c.2730C>T (p.Gly910=) c.77-1649C>T (n.77-1649C>T) | |
16 | g.51139201G>C | CA8052993 | SALL1 | c.3021C>G (p.Gly1007=) c.2730C>G (p.Gly910=) c.77-1649C>G (n.77-1649C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139201G= | CA2222017539 | SALL1 | c.3021C= (p.Gly1007=) c.2730C= (p.Gly910=) c.77-1649C= (n.77-1649C=) | |
16 | g.51139201G>T | CA495780102 | SALL1 | c.3021C>A (p.Gly1007=) c.2730C>A (p.Gly910=) c.77-1649C>A (n.77-1649C>A) | |
16 | g.51139202C>A | CA395882475 | SALL1 | c.3020G>T (p.Gly1007Val) c.2729G>T (p.Gly910Val) c.77-1650G>T (n.77-1650G>T) | |
16 | g.51139202C= | CA2222017548 | SALL1 | c.3020G= (p.Gly1007=) c.2729G= (p.Gly910=) c.77-1650G= (n.77-1650G=) | |
16 | g.51139202C>G | CA395882471 | SALL1 | c.3020G>C (p.Gly1007Ala) c.2729G>C (p.Gly910Ala) c.77-1650G>C (n.77-1650G>C) | |
16 | g.51139202C>T | CA8052994 | SALL1 | c.3020G>A (p.Gly1007Asp) c.2729G>A (p.Gly910Asp) c.77-1650G>A (n.77-1650G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139203C>A | CA395882479 | SALL1 | c.3019G>T (p.Gly1007Cys) c.2728G>T (p.Gly910Cys) c.77-1651G>T (n.77-1651G>T) | gnomAD v4 |
16 | g.51139203C= | CA2222017555 | SALL1 | c.3019G= (p.Gly1007=) c.2728G= (p.Gly910=) c.77-1651G= (n.77-1651G=) | |
16 | g.51139203C>G | CA395882484 | SALL1 | c.3019G>C (p.Gly1007Arg) c.2728G>C (p.Gly910Arg) c.77-1651G>C (n.77-1651G>C) | |
16 | g.51139203C>T | CA395882490 | SALL1 | c.3019G>A (p.Gly1007Ser) c.2728G>A (p.Gly910Ser) c.77-1651G>A (n.77-1651G>A) | dbSNP gnomAD v4 COSMIC |
16 | g.51139204A>C | CA395882494 | SALL1 | c.3018T>G (p.Cys1006Trp) c.2727T>G (p.Cys909Trp) c.77-1652T>G (n.77-1652T>G) | |
16 | g.51139204A>G | CA495780104 | SALL1 | c.3018T>C (p.Cys1006=) c.2727T>C (p.Cys909=) c.77-1652T>C (n.77-1652T>C) | |
16 | g.51139204A>T | CA395882495 | SALL1 | c.3018T>A (p.Cys1006Ter) c.2727T>A (p.Cys909Ter) c.77-1652T>A (n.77-1652T>A) | |
16 | g.51139205C>A | CA395882499 | SALL1 | c.3017G>T (p.Cys1006Phe) c.2726G>T (p.Cys909Phe) c.77-1653G>T (n.77-1653G>T) | |
16 | g.51139205C>G | CA395882507 | SALL1 | c.3017G>C (p.Cys1006Ser) c.2726G>C (p.Cys909Ser) c.77-1653G>C (n.77-1653G>C) | |
16 | g.51139205C>T | CA395882502 | SALL1 | c.3017G>A (p.Cys1006Tyr) c.2726G>A (p.Cys909Tyr) c.77-1653G>A (n.77-1653G>A) | gnomAD v4 |
16 | g.51139206A>C | CA395882512 | SALL1 | c.3016T>G (p.Cys1006Gly) c.2725T>G (p.Cys909Gly) c.77-1654T>G (n.77-1654T>G) | |
16 | g.51139206A>G | CA395882514 | SALL1 | c.3016T>C (p.Cys1006Arg) c.2725T>C (p.Cys909Arg) c.77-1654T>C (n.77-1654T>C) | |
16 | g.51139206A>T | CA395882521 | SALL1 | c.3016T>A (p.Cys1006Ser) c.2725T>A (p.Cys909Ser) c.77-1654T>A (n.77-1654T>A) | |
16 | g.51139207A>C | CA395882524 | SALL1 | c.3015T>G (p.Ile1005Met) c.2724T>G (p.Ile908Met) c.77-1655T>G (n.77-1655T>G) | COSMIC |
16 | g.51139207A>G | CA495780106 | SALL1 | c.3015T>C (p.Ile1005=) c.2724T>C (p.Ile908=) c.77-1655T>C (n.77-1655T>C) | |
16 | g.51139207A>T | CA495780107 | SALL1 | c.3015T>A (p.Ile1005=) c.2724T>A (p.Ile908=) c.77-1655T>A (n.77-1655T>A) | |
16 | g.51139208A>C | CA395882529 | SALL1 | c.3014T>G (p.Ile1005Ser) c.2723T>G (p.Ile908Ser) c.77-1656T>G (n.77-1656T>G) | |
16 | g.51139208A>G | CA395882535 | SALL1 | c.3014T>C (p.Ile1005Thr) c.2723T>C (p.Ile908Thr) c.77-1656T>C (n.77-1656T>C) | |
16 | g.51139208A>T | CA395882533 | SALL1 | c.3014T>A (p.Ile1005Asn) c.2723T>A (p.Ile908Asn) c.77-1656T>A (n.77-1656T>A) | COSMIC |
16 | g.51139209T>A | CA395882542 | SALL1 | c.3013A>T (p.Ile1005Phe) c.2722A>T (p.Ile908Phe) c.77-1657A>T (n.77-1657A>T) | |
16 | g.51139209T>C | CA395882544 | SALL1 | c.3013A>G (p.Ile1005Val) c.2722A>G (p.Ile908Val) c.77-1657A>G (n.77-1657A>G) | |
16 | g.51139209T>G | CA395882547 | SALL1 | c.3013A>C (p.Ile1005Leu) c.2722A>C (p.Ile908Leu) c.77-1657A>C (n.77-1657A>C) | |
16 | g.51139210G>A | CA495780108 | SALL1 | c.3012C>T (p.Asp1004=) c.2721C>T (p.Asp907=) c.77-1658C>T (n.77-1658C>T) | gnomAD v4 |
16 | g.51139210G>C | CA395882552 | SALL1 | c.3012C>G (p.Asp1004Glu) c.2721C>G (p.Asp907Glu) c.77-1658C>G (n.77-1658C>G) | |
16 | g.51139210G>T | CA395882553 | SALL1 | c.3012C>A (p.Asp1004Glu) c.2721C>A (p.Asp907Glu) c.77-1658C>A (n.77-1658C>A) | |
16 | g.51139211T>A | CA395882554 | SALL1 | c.3011A>T (p.Asp1004Val) c.2720A>T (p.Asp907Val) c.77-1659A>T (n.77-1659A>T) | |
16 | g.51139211T>C | CA395882558 | SALL1 | c.3011A>G (p.Asp1004Gly) c.2720A>G (p.Asp907Gly) c.77-1659A>G (n.77-1659A>G) | |
16 | g.51139211T>G | CA395882563 | SALL1 | c.3011A>C (p.Asp1004Ala) c.2720A>C (p.Asp907Ala) c.77-1659A>C (n.77-1659A>C) | |
16 | g.51139212C>A | CA395882565 | SALL1 | c.3010G>T (p.Asp1004Tyr) c.2719G>T (p.Asp907Tyr) c.77-1660G>T (n.77-1660G>T) | |
16 | g.51139212C>G | CA395882567 | SALL1 | c.3010G>C (p.Asp1004His) c.2719G>C (p.Asp907His) c.77-1660G>C (n.77-1660G>C) | gnomAD v4 |
16 | g.51139212C>T | CA395882568 | SALL1 | c.3010G>A (p.Asp1004Asn) c.2719G>A (p.Asp907Asn) c.77-1660G>A (n.77-1660G>A) | COSMIC |
16 | g.51139213A>C | CA395882570 | SALL1 | c.3009T>G (p.Cys1003Trp) c.2718T>G (p.Cys906Trp) c.77-1661T>G (n.77-1661T>G) | |
16 | g.51139213A>G | CA495780110 | SALL1 | c.3009T>C (p.Cys1003=) c.2718T>C (p.Cys906=) c.77-1661T>C (n.77-1661T>C) | |
16 | g.51139213A>T | CA395882569 | SALL1 | c.3009T>A (p.Cys1003Ter) c.2718T>A (p.Cys906Ter) c.77-1661T>A (n.77-1661T>A) | |
16 | g.51139213_51139216del | CA2695223345 | SALL1 | c.3006_3009del (p.Cys1003ThrfsTer?) c.2715_2718del (p.Cys906ThrfsTer?) c.77-1664_77-1661del (n.77-1664_77-1661del) | |
16 | g.51139213_51139217delinsACAAG | CA2222017563 | SALL1 | c.3005_3009delinsCTTGT (p.Ala1002=) c.2714_2718delinsCTTGT (p.Ala905=) c.77-1665_77-1661delinsCTTGT (n.77-1665_77-1661delinsCTTGT) | |
16 | g.51139214C>A | CA395882573 | SALL1 | c.3008G>T (p.Cys1003Phe) c.2717G>T (p.Cys906Phe) c.77-1662G>T (n.77-1662G>T) | |
16 | g.51139214C>G | CA395882574 | SALL1 | c.3008G>C (p.Cys1003Ser) c.2717G>C (p.Cys906Ser) c.77-1662G>C (n.77-1662G>C) | |
16 | g.51139214C>T | CA395882577 | SALL1 | c.3008G>A (p.Cys1003Tyr) c.2717G>A (p.Cys906Tyr) c.77-1662G>A (n.77-1662G>A) | |
16 | g.51139216_51139219del | CA915949258 | SALL1 | c.3005_3008del (p.Ala1002ValfsTer?) c.2714_2717del (p.Ala905ValfsTer?) c.77-1665_77-1662del (n.77-1665_77-1662del) | ClinVar dbSNP |
16 | g.51139215A= | CA2222017566 | SALL1 | c.3007T= (p.Cys1003=) c.2716T= (p.Cys906=) c.77-1663T= (n.77-1663T=) | |
16 | g.51139215A>C | CA395882579 | SALL1 | c.3007T>G (p.Cys1003Gly) c.2716T>G (p.Cys906Gly) c.77-1663T>G (n.77-1663T>G) | |
16 | g.51139215A>G | CA395882583 | SALL1 | c.3007T>C (p.Cys1003Arg) c.2716T>C (p.Cys906Arg) c.77-1663T>C (n.77-1663T>C) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51139215A>T | CA395882598 | SALL1 | c.3007T>A (p.Cys1003Ser) c.2716T>A (p.Cys906Ser) c.77-1663T>A (n.77-1663T>A) | |
16 | g.51139216A>C | CA495780112 | SALL1 | c.3006T>G (p.Ala1002=) c.2715T>G (p.Ala905=) c.77-1664T>G (n.77-1664T>G) | |
16 | g.51139216A>G | CA495780113 | SALL1 | c.3006T>C (p.Ala1002=) c.2715T>C (p.Ala905=) c.77-1664T>C (n.77-1664T>C) | |
16 | g.51139216A>T | CA495780114 | SALL1 | c.3006T>A (p.Ala1002=) c.2715T>A (p.Ala905=) c.77-1664T>A (n.77-1664T>A) | |
16 | g.51139217G>A | CA395882605 | SALL1 | c.3005C>T (p.Ala1002Val) c.2714C>T (p.Ala905Val) c.77-1665C>T (n.77-1665C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.51139217G>C | CA395882614 | SALL1 | c.3005C>G (p.Ala1002Gly) c.2714C>G (p.Ala905Gly) c.77-1665C>G (n.77-1665C>G) | |
16 | g.51139217G= | CA2222017569 | SALL1 | c.3005C= (p.Ala1002=) c.2714C= (p.Ala905=) c.77-1665C= (n.77-1665C=) | |
16 | g.51139217G>T | CA395882617 | SALL1 | c.3005C>A (p.Ala1002Asp) c.2714C>A (p.Ala905Asp) c.77-1665C>A (n.77-1665C>A) | |
16 | g.51139218C>A | CA395882621 | SALL1 | c.3004G>T (p.Ala1002Ser) c.2713G>T (p.Ala905Ser) c.77-1666G>T (n.77-1666G>T) | |
16 | g.51139218C= | CA2222017572 | SALL1 | c.3004G= (p.Ala1002=) c.2713G= (p.Ala905=) c.77-1666G= (n.77-1666G=) | |
16 | g.51139218C>G | CA395882624 | SALL1 | c.3004G>C (p.Ala1002Pro) c.2713G>C (p.Ala905Pro) c.77-1666G>C (n.77-1666G>C) | |
16 | g.51139218C>T | CA395882627 | SALL1 | c.3004G>A (p.Ala1002Thr) c.2713G>A (p.Ala905Thr) c.77-1666G>A (n.77-1666G>A) | dbSNP gnomAD v4 |
16 | g.51139219A= | CA2222017575 | SALL1 | c.3003T= (p.Thr1001=) c.2712T= (p.Thr904=) c.77-1667T= (n.77-1667T=) | |
16 | g.51139219A>C | CA495780115 | SALL1 | c.3003T>G (p.Thr1001=) c.2712T>G (p.Thr904=) c.77-1667T>G (n.77-1667T>G) | |
16 | g.51139219A>G | CA8052995 | SALL1 | c.3003T>C (p.Thr1001=) c.2712T>C (p.Thr904=) c.77-1667T>C (n.77-1667T>C) | dbSNP ExAC gnomAD v2 |
16 | g.51139219A>T | CA495780116 | SALL1 | c.3003T>A (p.Thr1001=) c.2712T>A (p.Thr904=) c.77-1667T>A (n.77-1667T>A) | |
16 | g.51139220G>A | CA395882635 | SALL1 | c.3002C>T (p.Thr1001Ile) c.2711C>T (p.Thr904Ile) c.77-1668C>T (n.77-1668C>T) | |
16 | g.51139220G>C | CA395882632 | SALL1 | c.3002C>G (p.Thr1001Ser) c.2711C>G (p.Thr904Ser) c.77-1668C>G (n.77-1668C>G) | |
16 | g.51139220G>T | CA395882631 | SALL1 | c.3002C>A (p.Thr1001Asn) c.2711C>A (p.Thr904Asn) c.77-1668C>A (n.77-1668C>A) | |
16 | g.51139221T>A | CA395882650 | SALL1 | c.3001A>T (p.Thr1001Ser) c.2710A>T (p.Thr904Ser) c.77-1669A>T (n.77-1669A>T) | |
16 | g.51139221T>C | CA395882654 | SALL1 | c.3001A>G (p.Thr1001Ala) c.2710A>G (p.Thr904Ala) c.77-1669A>G (n.77-1669A>G) | |
16 | g.51139221T>G | CA395882655 | SALL1 | c.3001A>C (p.Thr1001Pro) c.2710A>C (p.Thr904Pro) c.77-1669A>C (n.77-1669A>C) | gnomAD v4 |
16 | g.51139222G>A | CA495780119 | SALL1 | c.3000C>T (p.Asn1000=) c.2709C>T (p.Asn903=) c.77-1670C>T (n.77-1670C>T) | gnomAD v4 |
16 | g.51139222G>C | CA395882658 | SALL1 | c.3000C>G (p.Asn1000Lys) c.2709C>G (p.Asn903Lys) c.77-1670C>G (n.77-1670C>G) | ClinVar |
16 | g.51139222G>T | CA395882660 | SALL1 | c.3000C>A (p.Asn1000Lys) c.2709C>A (p.Asn903Lys) c.77-1670C>A (n.77-1670C>A) | dbSNP |
16 | g.51139223T>A | CA395882664 | SALL1 | c.2999A>T (p.Asn1000Ile) c.2708A>T (p.Asn903Ile) c.77-1671A>T (n.77-1671A>T) | |
16 | g.51139223T>C | CA395882667 | SALL1 | c.2999A>G (p.Asn1000Ser) c.2708A>G (p.Asn903Ser) c.77-1671A>G (n.77-1671A>G) | |
16 | g.51139223T>G | CA395882671 | SALL1 | c.2999A>C (p.Asn1000Thr) c.2708A>C (p.Asn903Thr) c.77-1671A>C (n.77-1671A>C) | |
16 | g.51139227dup | CA2633181092 | SALL1 | c.2999dup (p.Asn1000LysfsTer5) c.2708dup (p.Asn903LysfsTer5) c.77-1671dup (n.77-1671dup) | gnomAD v4 |
16 | g.51139227del | CA2695223346 | SALL1 | c.2999del (p.Asn1000ThrfsTer?) c.2708del (p.Asn903ThrfsTer?) c.77-1671del (n.77-1671del) | |
16 | g.51139224T>A | CA395882674 | SALL1 | c.2998A>T (p.Asn1000Tyr) c.2707A>T (p.Asn903Tyr) c.77-1672A>T (n.77-1672A>T) | |
16 | g.51139224T>C | CA395882675 | SALL1 | c.2998A>G (p.Asn1000Asp) c.2707A>G (p.Asn903Asp) c.77-1672A>G (n.77-1672A>G) | |
16 | g.51139224T>G | CA395882676 | SALL1 | c.2998A>C (p.Asn1000His) c.2707A>C (p.Asn903His) c.77-1672A>C (n.77-1672A>C) | |
16 | g.51139225T>A | CA395882680 | SALL1 | c.2997A>T (p.Lys999Asn) c.2706A>T (p.Lys902Asn) c.77-1673A>T (n.77-1673A>T) | |
16 | g.51139225T>C | CA495780121 | SALL1 | c.2997A>G (p.Lys999=) c.2706A>G (p.Lys902=) c.77-1673A>G (n.77-1673A>G) | |
16 | g.51139225T>G | CA395882682 | SALL1 | c.2997A>C (p.Lys999Asn) c.2706A>C (p.Lys902Asn) c.77-1673A>C (n.77-1673A>C) | |
16 | g.51139226T>A | CA395882689 | SALL1 | c.2996A>T (p.Lys999Ile) c.2705A>T (p.Lys902Ile) c.77-1674A>T (n.77-1674A>T) | |
16 | g.51139226T>C | CA395882694 | SALL1 | c.2996A>G (p.Lys999Arg) c.2705A>G (p.Lys902Arg) c.77-1674A>G (n.77-1674A>G) | |
16 | g.51139226T>G | CA395882686 | SALL1 | c.2996A>C (p.Lys999Thr) c.2705A>C (p.Lys902Thr) c.77-1674A>C (n.77-1674A>C) | |
16 | g.51139227T>A | CA395882697 | SALL1 | c.2995A>T (p.Lys999Ter) c.2704A>T (p.Lys902Ter) c.77-1675A>T (n.77-1675A>T) | |
16 | g.51139227T>C | CA395882703 | SALL1 | c.2995A>G (p.Lys999Glu) c.2704A>G (p.Lys902Glu) c.77-1675A>G (n.77-1675A>G) | dbSNP |
16 | g.51139227T>G | CA395882700 | SALL1 | c.2995A>C (p.Lys999Gln) c.2704A>C (p.Lys902Gln) c.77-1675A>C (n.77-1675A>C) | |
16 | g.51139228A>C | CA395882705 | SALL1 | c.2994T>G (p.Phe998Leu) c.2703T>G (p.Phe901Leu) c.77-1676T>G (n.77-1676T>G) | |
16 | g.51139228A>G | CA495780123 | SALL1 | c.2994T>C (p.Phe998=) c.2703T>C (p.Phe901=) c.77-1676T>C (n.77-1676T>C) | |
16 | g.51139228A>T | CA395882708 | SALL1 | c.2994T>A (p.Phe998Leu) c.2703T>A (p.Phe901Leu) c.77-1676T>A (n.77-1676T>A) | |
16 | g.51139229A>C | CA395882712 | SALL1 | c.2993T>G (p.Phe998Cys) c.2702T>G (p.Phe901Cys) c.77-1677T>G (n.77-1677T>G) | |
16 | g.51139229A>G | CA395882716 | SALL1 | c.2993T>C (p.Phe998Ser) c.2702T>C (p.Phe901Ser) c.77-1677T>C (n.77-1677T>C) | |
16 | g.51139229A>T | CA395882718 | SALL1 | c.2993T>A (p.Phe998Tyr) c.2702T>A (p.Phe901Tyr) c.77-1677T>A (n.77-1677T>A) | |
16 | g.51139230A>C | CA395882724 | SALL1 | c.2992T>G (p.Phe998Val) c.2701T>G (p.Phe901Val) c.77-1678T>G (n.77-1678T>G) | |
16 | g.51139230A>G | CA395882725 | SALL1 | c.2992T>C (p.Phe998Leu) c.2701T>C (p.Phe901Leu) c.77-1678T>C (n.77-1678T>C) | gnomAD v4 |
16 | g.51139230A>T | CA395882727 | SALL1 | c.2992T>A (p.Phe998Ile) c.2701T>A (p.Phe901Ile) c.77-1678T>A (n.77-1678T>A) | |
16 | g.51139231T>A | CA395882731 | SALL1 | c.2991A>T (p.Lys997Asn) c.2700A>T (p.Lys900Asn) c.77-1679A>T (n.77-1679A>T) | |
16 | g.51139231T>C | CA495780126 | SALL1 | c.2991A>G (p.Lys997=) c.2700A>G (p.Lys900=) c.77-1679A>G (n.77-1679A>G) | |
16 | g.51139231T>G | CA395882738 | SALL1 | c.2991A>C (p.Lys997Asn) c.2700A>C (p.Lys900Asn) c.77-1679A>C (n.77-1679A>C) | |
16 | g.51139232T>A | CA395882740 | SALL1 | c.2990A>T (p.Lys997Ile) c.2699A>T (p.Lys900Ile) c.77-1680A>T (n.77-1680A>T) | |
16 | g.51139232T>C | CA395882742 | SALL1 | c.2990A>G (p.Lys997Arg) c.2699A>G (p.Lys900Arg) c.77-1680A>G (n.77-1680A>G) | |
16 | g.51139232T>G | CA395882745 | SALL1 | c.2990A>C (p.Lys997Thr) c.2699A>C (p.Lys900Thr) c.77-1680A>C (n.77-1680A>C) | |
16 | g.51139233T>A | CA395882749 | SALL1 | c.2989A>T (p.Lys997Ter) c.2698A>T (p.Lys900Ter) c.77-1681A>T (n.77-1681A>T) | |
16 | g.51139233T>C | CA395882753 | SALL1 | c.2989A>G (p.Lys997Glu) c.2698A>G (p.Lys900Glu) c.77-1681A>G (n.77-1681A>G) | |
16 | g.51139233T>G | CA395882752 | SALL1 | c.2989A>C (p.Lys997Gln) c.2698A>C (p.Lys900Gln) c.77-1681A>C (n.77-1681A>C) | |
16 | g.51139234A>C | CA495780129 | SALL1 | c.2988T>G (p.Gly996=) c.2697T>G (p.Gly899=) c.77-1682T>G (n.77-1682T>G) | |
16 | g.51139234A>G | CA495780131 | SALL1 | c.2988T>C (p.Gly996=) c.2697T>C (p.Gly899=) c.77-1682T>C (n.77-1682T>C) | |
16 | g.51139234A>T | CA495780132 | SALL1 | c.2988T>A (p.Gly996=) c.2697T>A (p.Gly899=) c.77-1682T>A (n.77-1682T>A) | |
16 | g.51139235C>A | CA395882756 | SALL1 | c.2987G>T (p.Gly996Val) c.2696G>T (p.Gly899Val) c.77-1683G>T (n.77-1683G>T) | |
16 | g.51139235C= | CA2222017579 | SALL1 | c.2987G= (p.Gly996=) c.2696G= (p.Gly899=) c.77-1683G= (n.77-1683G=) | |
16 | g.51139235C>G | CA395882759 | SALL1 | c.2987G>C (p.Gly996Ala) c.2696G>C (p.Gly899Ala) c.77-1683G>C (n.77-1683G>C) | |
16 | g.51139235C>T | CA8052996 | SALL1 | c.2987G>A (p.Gly996Asp) c.2696G>A (p.Gly899Asp) c.77-1683G>A (n.77-1683G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
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 |