Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.139379716A= | CA1586303648 | SLC23A1 | c.887T= (p.Ile296=) c.899T= (p.Ile300=) c.164+240T= n.498T= c.1007T= (p.Ile336=) c.995T= (p.Ile332=) c.788T= (p.Ile263=) c.692T= (p.Ile231=) c.572T= (p.Ile191=) c.182T= (p.Ile61=) | |
5 | g.139379716A>C | CA361139560 | SLC23A1 | c.887T>G (p.Ile296Ser) c.899T>G (p.Ile300Ser) c.164+240T>G n.498T>G c.1007T>G (p.Ile336Ser) c.995T>G (p.Ile332Ser) c.788T>G (p.Ile263Ser) c.692T>G (p.Ile231Ser) c.572T>G (p.Ile191Ser) c.182T>G (p.Ile61Ser) | |
5 | g.139379716A>G | CA361139562 | SLC23A1 | c.887T>C (p.Ile296Thr) c.899T>C (p.Ile300Thr) c.164+240T>C n.498T>C c.1007T>C (p.Ile336Thr) c.995T>C (p.Ile332Thr) c.788T>C (p.Ile263Thr) c.692T>C (p.Ile231Thr) c.572T>C (p.Ile191Thr) c.182T>C (p.Ile61Thr) | |
5 | g.139379716A>T | CA361139564 | SLC23A1 | c.887T>A (p.Ile296Asn) c.899T>A (p.Ile300Asn) c.164+240T>A n.498T>A c.1007T>A (p.Ile336Asn) c.995T>A (p.Ile332Asn) c.788T>A (p.Ile263Asn) c.692T>A (p.Ile231Asn) c.572T>A (p.Ile191Asn) c.182T>A (p.Ile61Asn) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.139379717T>A | CA361139568 | SLC23A1 | c.886A>T (p.Ile296Phe) c.898A>T (p.Ile300Phe) c.164+239A>T n.497A>T c.1006A>T (p.Ile336Phe) c.994A>T (p.Ile332Phe) c.787A>T (p.Ile263Phe) c.691A>T (p.Ile231Phe) c.571A>T (p.Ile191Phe) c.181A>T (p.Ile61Phe) | |
5 | g.139379717T>C | CA361139570 | SLC23A1 | c.886A>G (p.Ile296Val) c.898A>G (p.Ile300Val) c.164+239A>G n.497A>G c.1006A>G (p.Ile336Val) c.994A>G (p.Ile332Val) c.787A>G (p.Ile263Val) c.691A>G (p.Ile231Val) c.571A>G (p.Ile191Val) c.181A>G (p.Ile61Val) | |
5 | g.139379717T>G | CA361139572 | SLC23A1 | c.886A>C (p.Ile296Leu) c.898A>C (p.Ile300Leu) c.164+239A>C n.497A>C c.1006A>C (p.Ile336Leu) c.994A>C (p.Ile332Leu) c.787A>C (p.Ile263Leu) c.691A>C (p.Ile231Leu) c.571A>C (p.Ile191Leu) c.181A>C (p.Ile61Leu) | |
5 | g.139379718G>A | CA446793930 | SLC23A1 | c.885C>T (p.Asp295=) c.897C>T (p.Asp299=) c.164+238C>T n.496C>T c.1005C>T (p.Asp335=) c.993C>T (p.Asp331=) c.786C>T (p.Asp262=) c.690C>T (p.Asp230=) c.570C>T (p.Asp190=) c.180C>T (p.Asp60=) | |
5 | g.139379718G>C | CA361139575 | SLC23A1 | c.885C>G (p.Asp295Glu) c.897C>G (p.Asp299Glu) c.164+238C>G n.496C>G c.1005C>G (p.Asp335Glu) c.993C>G (p.Asp331Glu) c.786C>G (p.Asp262Glu) c.690C>G (p.Asp230Glu) c.570C>G (p.Asp190Glu) c.180C>G (p.Asp60Glu) | |
5 | g.139379718G>T | CA361139576 | SLC23A1 | c.885C>A (p.Asp295Glu) c.897C>A (p.Asp299Glu) c.164+238C>A n.496C>A c.1005C>A (p.Asp335Glu) c.993C>A (p.Asp331Glu) c.786C>A (p.Asp262Glu) c.690C>A (p.Asp230Glu) c.570C>A (p.Asp190Glu) c.180C>A (p.Asp60Glu) | |
5 | g.139379719T>A | CA361139579 | SLC23A1 | c.884A>T (p.Asp295Val) c.896A>T (p.Asp299Val) c.164+237A>T n.495A>T c.1004A>T (p.Asp335Val) c.992A>T (p.Asp331Val) c.785A>T (p.Asp262Val) c.689A>T (p.Asp230Val) c.569A>T (p.Asp190Val) c.179A>T (p.Asp60Val) | |
5 | g.139379719T>C | CA361139581 | SLC23A1 | c.884A>G (p.Asp295Gly) c.896A>G (p.Asp299Gly) c.164+237A>G n.495A>G c.1004A>G (p.Asp335Gly) c.992A>G (p.Asp331Gly) c.785A>G (p.Asp262Gly) c.689A>G (p.Asp230Gly) c.569A>G (p.Asp190Gly) c.179A>G (p.Asp60Gly) | |
5 | g.139379719T>G | CA361139583 | SLC23A1 | c.884A>C (p.Asp295Ala) c.896A>C (p.Asp299Ala) c.164+237A>C n.495A>C c.1004A>C (p.Asp335Ala) c.992A>C (p.Asp331Ala) c.785A>C (p.Asp262Ala) c.689A>C (p.Asp230Ala) c.569A>C (p.Asp190Ala) c.179A>C (p.Asp60Ala) | |
5 | g.139379719_139379721delinsTCA | CA1586303652 | SLC23A1 | c.882_884delinsTGA (p.Gly294=) c.894_896delinsTGA (p.Gly298=) c.164+235_164+237delinsTGA n.493_495delinsTGA c.1002_1004delinsTGA (p.Gly334=) c.990_992delinsTGA (p.Gly330=) c.783_785delinsTGA (p.Gly261=) c.687_689delinsTGA (p.Gly229=) c.567_569delinsTGA (p.Gly189=) c.177_179delinsTGA (p.Gly59=) | |
5 | g.139379720C>A | CA361139587 | SLC23A1 | c.883G>T (p.Asp295Tyr) c.895G>T (p.Asp299Tyr) c.164+236G>T n.494G>T c.1003G>T (p.Asp335Tyr) c.991G>T (p.Asp331Tyr) c.784G>T (p.Asp262Tyr) c.688G>T (p.Asp230Tyr) c.568G>T (p.Asp190Tyr) c.178G>T (p.Asp60Tyr) | |
5 | g.139379720C= | CA1586303657 | SLC23A1 | c.883G= (p.Asp295=) c.895G= (p.Asp299=) c.164+236G= n.494G= c.1003G= (p.Asp335=) c.991G= (p.Asp331=) c.784G= (p.Asp262=) c.688G= (p.Asp230=) c.568G= (p.Asp190=) c.178G= (p.Asp60=) | |
5 | g.139379720C>G | CA361139590 | SLC23A1 | c.883G>C (p.Asp295His) c.895G>C (p.Asp299His) c.164+236G>C n.494G>C c.1003G>C (p.Asp335His) c.991G>C (p.Asp331His) c.784G>C (p.Asp262His) c.688G>C (p.Asp230His) c.568G>C (p.Asp190His) c.178G>C (p.Asp60His) | |
5 | g.139379720C>T | CA361139585 | SLC23A1 | c.883G>A (p.Asp295Asn) c.895G>A (p.Asp299Asn) c.164+236G>A n.494G>A c.1003G>A (p.Asp335Asn) c.991G>A (p.Asp331Asn) c.784G>A (p.Asp262Asn) c.688G>A (p.Asp230Asn) c.568G>A (p.Asp190Asn) c.178G>A (p.Asp60Asn) | dbSNP |
5 | g.139379721_139379722del | CA804618528 | SLC23A1 | c.882_883del (p.Asp295HisfsTer?) c.894_895del (p.Asp299HisfsTer?) c.164+235_164+236del n.493_494del c.1002_1003del (p.Asp335HisfsTer?) c.990_991del (p.Asp331HisfsTer?) c.783_784del (p.Asp262HisfsTer?) c.687_688del (p.Asp230HisfsTer?) c.567_568del (p.Asp190HisfsTer?) c.177_178del (p.Asp60HisfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.139379721A= | CA1586303659 | SLC23A1 | c.882T= (p.Gly294=) c.894T= (p.Gly298=) c.164+235T= n.493T= c.1002T= (p.Gly334=) c.990T= (p.Gly330=) c.783T= (p.Gly261=) c.687T= (p.Gly229=) c.567T= (p.Gly189=) c.177T= (p.Gly59=) | |
5 | g.139379721A>C | CA446793935 | SLC23A1 | c.882T>G (p.Gly294=) c.894T>G (p.Gly298=) c.164+235T>G n.493T>G c.1002T>G (p.Gly334=) c.990T>G (p.Gly330=) c.783T>G (p.Gly261=) c.687T>G (p.Gly229=) c.567T>G (p.Gly189=) c.177T>G (p.Gly59=) | dbSNP |
5 | g.139379721A>G | CA446793937 | SLC23A1 | c.882T>C (p.Gly294=) c.894T>C (p.Gly298=) c.164+235T>C n.493T>C c.1002T>C (p.Gly334=) c.990T>C (p.Gly330=) c.783T>C (p.Gly261=) c.687T>C (p.Gly229=) c.567T>C (p.Gly189=) c.177T>C (p.Gly59=) | |
5 | g.139379721A>T | CA446793938 | SLC23A1 | c.882T>A (p.Gly294=) c.894T>A (p.Gly298=) c.164+235T>A n.493T>A c.1002T>A (p.Gly334=) c.990T>A (p.Gly330=) c.783T>A (p.Gly261=) c.687T>A (p.Gly229=) c.567T>A (p.Gly189=) c.177T>A (p.Gly59=) | |
5 | g.139379722C>A | CA361139595 | SLC23A1 | c.881G>T (p.Gly294Val) c.893G>T (p.Gly298Val) c.164+234G>T n.492G>T c.1001G>T (p.Gly334Val) c.989G>T (p.Gly330Val) c.782G>T (p.Gly261Val) c.686G>T (p.Gly229Val) c.566G>T (p.Gly189Val) c.176G>T (p.Gly59Val) | |
5 | g.139379722C>G | CA361139593 | SLC23A1 | c.881G>C (p.Gly294Ala) c.893G>C (p.Gly298Ala) c.164+234G>C n.492G>C c.1001G>C (p.Gly334Ala) c.989G>C (p.Gly330Ala) c.782G>C (p.Gly261Ala) c.686G>C (p.Gly229Ala) c.566G>C (p.Gly189Ala) c.176G>C (p.Gly59Ala) | |
5 | g.139379722C>T | CA361139597 | SLC23A1 | c.881G>A (p.Gly294Asp) c.893G>A (p.Gly298Asp) c.164+234G>A n.492G>A c.1001G>A (p.Gly334Asp) c.989G>A (p.Gly330Asp) c.782G>A (p.Gly261Asp) c.686G>A (p.Gly229Asp) c.566G>A (p.Gly189Asp) c.176G>A (p.Gly59Asp) | |
5 | g.139379723C>A | CA361139599 | SLC23A1 | c.880G>T (p.Gly294Cys) c.892G>T (p.Gly298Cys) c.164+233G>T n.491G>T c.1000G>T (p.Gly334Cys) c.988G>T (p.Gly330Cys) c.781G>T (p.Gly261Cys) c.685G>T (p.Gly229Cys) c.565G>T (p.Gly189Cys) c.175G>T (p.Gly59Cys) | |
5 | g.139379723C= | CA1586303661 | SLC23A1 | c.880G= (p.Gly294=) c.892G= (p.Gly298=) c.164+233G= n.491G= c.1000G= (p.Gly334=) c.988G= (p.Gly330=) c.781G= (p.Gly261=) c.685G= (p.Gly229=) c.565G= (p.Gly189=) c.175G= (p.Gly59=) | |
5 | g.139379723C>G | CA361139602 | SLC23A1 | c.880G>C (p.Gly294Arg) c.892G>C (p.Gly298Arg) c.164+233G>C n.491G>C c.1000G>C (p.Gly334Arg) c.988G>C (p.Gly330Arg) c.781G>C (p.Gly261Arg) c.685G>C (p.Gly229Arg) c.565G>C (p.Gly189Arg) c.175G>C (p.Gly59Arg) | |
5 | g.139379723C>T | CA128242337 | SLC23A1 | c.880G>A (p.Gly294Ser) c.892G>A (p.Gly298Ser) c.164+233G>A n.491G>A c.1000G>A (p.Gly334Ser) c.988G>A (p.Gly330Ser) c.781G>A (p.Gly261Ser) c.685G>A (p.Gly229Ser) c.565G>A (p.Gly189Ser) c.175G>A (p.Gly59Ser) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
5 | g.139379724A>C | CA446793942 | SLC23A1 | c.879T>G (p.Arg293=) c.891T>G (p.Arg297=) c.164+232T>G n.490T>G c.999T>G (p.Arg333=) c.987T>G (p.Arg329=) c.780T>G (p.Arg260=) c.684T>G (p.Arg228=) c.564T>G (p.Arg188=) c.174T>G (p.Arg58=) | |
5 | g.139379724A>G | CA446793943 | SLC23A1 | c.879T>C (p.Arg293=) c.891T>C (p.Arg297=) c.164+232T>C n.490T>C c.999T>C (p.Arg333=) c.987T>C (p.Arg329=) c.780T>C (p.Arg260=) c.684T>C (p.Arg228=) c.564T>C (p.Arg188=) c.174T>C (p.Arg58=) | |
5 | g.139379724A>T | CA446793944 | SLC23A1 | c.879T>A (p.Arg293=) c.891T>A (p.Arg297=) c.164+232T>A n.490T>A c.999T>A (p.Arg333=) c.987T>A (p.Arg329=) c.780T>A (p.Arg260=) c.684T>A (p.Arg228=) c.564T>A (p.Arg188=) c.174T>A (p.Arg58=) | |
5 | g.139379725C>A | CA361139606 | SLC23A1 | c.878G>T (p.Arg293Leu) c.890G>T (p.Arg297Leu) c.164+231G>T n.489G>T c.998G>T (p.Arg333Leu) c.986G>T (p.Arg329Leu) c.779G>T (p.Arg260Leu) c.683G>T (p.Arg228Leu) c.563G>T (p.Arg188Leu) c.173G>T (p.Arg58Leu) | dbSNP |
5 | g.139379725C= | CA1586303664 | SLC23A1 | c.878G= (p.Arg293=) c.890G= (p.Arg297=) c.164+231G= n.489G= c.998G= (p.Arg333=) c.986G= (p.Arg329=) c.779G= (p.Arg260=) c.683G= (p.Arg228=) c.563G= (p.Arg188=) c.173G= (p.Arg58=) | |
5 | g.139379725C>G | CA361139608 | SLC23A1 | c.878G>C (p.Arg293Pro) c.890G>C (p.Arg297Pro) c.164+231G>C n.489G>C c.998G>C (p.Arg333Pro) c.986G>C (p.Arg329Pro) c.779G>C (p.Arg260Pro) c.683G>C (p.Arg228Pro) c.563G>C (p.Arg188Pro) c.173G>C (p.Arg58Pro) | |
5 | g.139379725C>T | CA3434029 | SLC23A1 | c.878G>A (p.Arg293His) c.890G>A (p.Arg297His) c.164+231G>A n.489G>A c.998G>A (p.Arg333His) c.986G>A (p.Arg329His) c.779G>A (p.Arg260His) c.683G>A (p.Arg228His) c.563G>A (p.Arg188His) c.173G>A (p.Arg58His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.139379726G>A | CA3434030 | SLC23A1 | c.877C>T (p.Arg293Cys) c.889C>T (p.Arg297Cys) c.164+230C>T n.488C>T c.997C>T (p.Arg333Cys) c.985C>T (p.Arg329Cys) c.778C>T (p.Arg260Cys) c.682C>T (p.Arg228Cys) c.562C>T (p.Arg188Cys) c.172C>T (p.Arg58Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.139379726G>C | CA361139613 | SLC23A1 | c.877C>G (p.Arg293Gly) c.889C>G (p.Arg297Gly) c.164+230C>G n.488C>G c.997C>G (p.Arg333Gly) c.985C>G (p.Arg329Gly) c.778C>G (p.Arg260Gly) c.682C>G (p.Arg228Gly) c.562C>G (p.Arg188Gly) c.172C>G (p.Arg58Gly) | |
5 | g.139379726G= | CA1586303667 | SLC23A1 | c.877C= (p.Arg293=) c.889C= (p.Arg297=) c.164+230C= n.488C= c.997C= (p.Arg333=) c.985C= (p.Arg329=) c.778C= (p.Arg260=) c.682C= (p.Arg228=) c.562C= (p.Arg188=) c.172C= (p.Arg58=) | |
5 | g.139379726G>T | CA361139615 | SLC23A1 | c.877C>A (p.Arg293Ser) c.889C>A (p.Arg297Ser) c.164+230C>A n.488C>A c.997C>A (p.Arg333Ser) c.985C>A (p.Arg329Ser) c.778C>A (p.Arg260Ser) c.682C>A (p.Arg228Ser) c.562C>A (p.Arg188Ser) c.172C>A (p.Arg58Ser) | |
5 | g.139379727G>A | CA446793948 | SLC23A1 | c.876C>T (p.Ala292=) c.888C>T (p.Ala296=) c.164+229C>T n.487C>T c.996C>T (p.Ala332=) c.984C>T (p.Ala328=) c.777C>T (p.Ala259=) c.681C>T (p.Ala227=) c.561C>T (p.Ala187=) c.171C>T (p.Ala57=) | |
5 | g.139379727G>C | CA446793950 | SLC23A1 | c.876C>G (p.Ala292=) c.888C>G (p.Ala296=) c.164+229C>G n.487C>G c.996C>G (p.Ala332=) c.984C>G (p.Ala328=) c.777C>G (p.Ala259=) c.681C>G (p.Ala227=) c.561C>G (p.Ala187=) c.171C>G (p.Ala57=) | |
5 | g.139379727G>T | CA446793951 | SLC23A1 | c.876C>A (p.Ala292=) c.888C>A (p.Ala296=) c.164+229C>A n.487C>A c.996C>A (p.Ala332=) c.984C>A (p.Ala328=) c.777C>A (p.Ala259=) c.681C>A (p.Ala227=) c.561C>A (p.Ala187=) c.171C>A (p.Ala57=) | |
5 | g.139379728G>A | CA361139618 | SLC23A1 | c.875C>T (p.Ala292Val) c.887C>T (p.Ala296Val) c.164+228C>T n.486C>T c.995C>T (p.Ala332Val) c.983C>T (p.Ala328Val) c.776C>T (p.Ala259Val) c.680C>T (p.Ala227Val) c.560C>T (p.Ala187Val) c.170C>T (p.Ala57Val) | dbSNP gnomAD v4 |
5 | g.139379728G>C | CA361139620 | SLC23A1 | c.875C>G (p.Ala292Gly) c.887C>G (p.Ala296Gly) c.164+228C>G n.486C>G c.995C>G (p.Ala332Gly) c.983C>G (p.Ala328Gly) c.776C>G (p.Ala259Gly) c.680C>G (p.Ala227Gly) c.560C>G (p.Ala187Gly) c.170C>G (p.Ala57Gly) | |
5 | g.139379728G= | CA1586303670 | SLC23A1 | c.875C= (p.Ala292=) c.887C= (p.Ala296=) c.164+228C= n.486C= c.995C= (p.Ala332=) c.983C= (p.Ala328=) c.776C= (p.Ala259=) c.680C= (p.Ala227=) c.560C= (p.Ala187=) c.170C= (p.Ala57=) | |
5 | g.139379728G>T | CA361139622 | SLC23A1 | c.875C>A (p.Ala292Asp) c.887C>A (p.Ala296Asp) c.164+228C>A n.486C>A c.995C>A (p.Ala332Asp) c.983C>A (p.Ala328Asp) c.776C>A (p.Ala259Asp) c.680C>A (p.Ala227Asp) c.560C>A (p.Ala187Asp) c.170C>A (p.Ala57Asp) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.139379729C>A | CA361139624 | SLC23A1 | c.874G>T (p.Ala292Ser) c.886G>T (p.Ala296Ser) c.164+227G>T n.485G>T c.994G>T (p.Ala332Ser) c.982G>T (p.Ala328Ser) c.775G>T (p.Ala259Ser) c.679G>T (p.Ala227Ser) c.559G>T (p.Ala187Ser) c.169G>T (p.Ala57Ser) | |
5 | g.139379729C= | CA1586303674 | SLC23A1 | c.874G= (p.Ala292=) c.886G= (p.Ala296=) c.164+227G= n.485G= c.994G= (p.Ala332=) c.982G= (p.Ala328=) c.775G= (p.Ala259=) c.679G= (p.Ala227=) c.559G= (p.Ala187=) c.169G= (p.Ala57=) | |
5 | g.139379729C>G | CA361139623 | SLC23A1 | c.874G>C (p.Ala292Pro) c.886G>C (p.Ala296Pro) c.164+227G>C n.485G>C c.994G>C (p.Ala332Pro) c.982G>C (p.Ala328Pro) c.775G>C (p.Ala259Pro) c.679G>C (p.Ala227Pro) c.559G>C (p.Ala187Pro) c.169G>C (p.Ala57Pro) | |
5 | g.139379729C>T | CA3434031 | SLC23A1 | c.874G>A (p.Ala292Thr) c.886G>A (p.Ala296Thr) c.164+227G>A n.485G>A c.994G>A (p.Ala332Thr) c.982G>A (p.Ala328Thr) c.775G>A (p.Ala259Thr) c.679G>A (p.Ala227Thr) c.559G>A (p.Ala187Thr) c.169G>A (p.Ala57Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.139379730A= | CA1586303679 | SLC23A1 | c.873T= (p.Asp291=) c.885T= (p.Asp295=) c.164+226T= n.484T= c.993T= (p.Asp331=) c.981T= (p.Asp327=) c.774T= (p.Asp258=) c.678T= (p.Asp226=) c.558T= (p.Asp186=) c.168T= (p.Asp56=) | |
5 | g.139379730A>C | CA361139625 | SLC23A1 | c.873T>G (p.Asp291Glu) c.885T>G (p.Asp295Glu) c.164+226T>G n.484T>G c.993T>G (p.Asp331Glu) c.981T>G (p.Asp327Glu) c.774T>G (p.Asp258Glu) c.678T>G (p.Asp226Glu) c.558T>G (p.Asp186Glu) c.168T>G (p.Asp56Glu) | |
5 | g.139379730A>G | CA3434032 | SLC23A1 | c.873T>C (p.Asp291=) c.885T>C (p.Asp295=) c.164+226T>C n.484T>C c.993T>C (p.Asp331=) c.981T>C (p.Asp327=) c.774T>C (p.Asp258=) c.678T>C (p.Asp226=) c.558T>C (p.Asp186=) c.168T>C (p.Asp56=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.139379730A>T | CA361139626 | SLC23A1 | c.873T>A (p.Asp291Glu) c.885T>A (p.Asp295Glu) c.164+226T>A n.484T>A c.993T>A (p.Asp331Glu) c.981T>A (p.Asp327Glu) c.774T>A (p.Asp258Glu) c.678T>A (p.Asp226Glu) c.558T>A (p.Asp186Glu) c.168T>A (p.Asp56Glu) | gnomAD v4 |
5 | g.139379731T>A | CA361139627 | SLC23A1 | c.872A>T (p.Asp291Val) c.884A>T (p.Asp295Val) c.164+225A>T n.483A>T c.992A>T (p.Asp331Val) c.980A>T (p.Asp327Val) c.773A>T (p.Asp258Val) c.677A>T (p.Asp226Val) c.557A>T (p.Asp186Val) c.167A>T (p.Asp56Val) | |
5 | g.139379731T>C | CA361139628 | SLC23A1 | c.872A>G (p.Asp291Gly) c.884A>G (p.Asp295Gly) c.164+225A>G n.483A>G c.992A>G (p.Asp331Gly) c.980A>G (p.Asp327Gly) c.773A>G (p.Asp258Gly) c.677A>G (p.Asp226Gly) c.557A>G (p.Asp186Gly) c.167A>G (p.Asp56Gly) | |
5 | g.139379731T>G | CA361139629 | SLC23A1 | c.872A>C (p.Asp291Ala) c.884A>C (p.Asp295Ala) c.164+225A>C n.483A>C c.992A>C (p.Asp331Ala) c.980A>C (p.Asp327Ala) c.773A>C (p.Asp258Ala) c.677A>C (p.Asp226Ala) c.557A>C (p.Asp186Ala) c.167A>C (p.Asp56Ala) | |
5 | g.139379732C>A | CA361139631 | SLC23A1 | c.871G>T (p.Asp291Tyr) c.883G>T (p.Asp295Tyr) c.164+224G>T n.482G>T c.991G>T (p.Asp331Tyr) c.979G>T (p.Asp327Tyr) c.772G>T (p.Asp258Tyr) c.676G>T (p.Asp226Tyr) c.556G>T (p.Asp186Tyr) c.166G>T (p.Asp56Tyr) | |
5 | g.139379732C= | CA1586303684 | SLC23A1 | c.871G= (p.Asp291=) c.883G= (p.Asp295=) c.164+224G= n.482G= c.991G= (p.Asp331=) c.979G= (p.Asp327=) c.772G= (p.Asp258=) c.676G= (p.Asp226=) c.556G= (p.Asp186=) c.166G= (p.Asp56=) | |
5 | g.139379732C>G | CA361139634 | SLC23A1 | c.871G>C (p.Asp291His) c.883G>C (p.Asp295His) c.164+224G>C n.482G>C c.991G>C (p.Asp331His) c.979G>C (p.Asp327His) c.772G>C (p.Asp258His) c.676G>C (p.Asp226His) c.556G>C (p.Asp186His) c.166G>C (p.Asp56His) | |
5 | g.139379732C>T | CA3434033 | SLC23A1 | c.871G>A (p.Asp291Asn) c.883G>A (p.Asp295Asn) c.164+224G>A n.482G>A c.991G>A (p.Asp331Asn) c.979G>A (p.Asp327Asn) c.772G>A (p.Asp258Asn) c.676G>A (p.Asp226Asn) c.556G>A (p.Asp186Asn) c.166G>A (p.Asp56Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.139379733G>A | CA128242352 | SLC23A1 | c.870C>T (p.Thr290=) c.882C>T (p.Thr294=) c.164+223C>T n.481C>T c.990C>T (p.Thr330=) c.978C>T (p.Thr326=) c.771C>T (p.Thr257=) c.675C>T (p.Thr225=) c.555C>T (p.Thr185=) c.165C>T (p.Thr55=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.139379733G>C | CA446793957 | SLC23A1 | c.870C>G (p.Thr290=) c.882C>G (p.Thr294=) c.164+223C>G n.481C>G c.990C>G (p.Thr330=) c.978C>G (p.Thr326=) c.771C>G (p.Thr257=) c.675C>G (p.Thr225=) c.555C>G (p.Thr185=) c.165C>G (p.Thr55=) | |
5 | g.139379733G= | CA1586303687 | SLC23A1 | c.870C= (p.Thr290=) c.882C= (p.Thr294=) c.164+223C= n.481C= c.990C= (p.Thr330=) c.978C= (p.Thr326=) c.771C= (p.Thr257=) c.675C= (p.Thr225=) c.555C= (p.Thr185=) c.165C= (p.Thr55=) | |
5 | g.139379733G>T | CA3434034 | SLC23A1 | c.870C>A (p.Thr290=) c.882C>A (p.Thr294=) c.164+223C>A n.481C>A c.990C>A (p.Thr330=) c.978C>A (p.Thr326=) c.771C>A (p.Thr257=) c.675C>A (p.Thr225=) c.555C>A (p.Thr185=) c.165C>A (p.Thr55=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.139379734G>A | CA361139644 | SLC23A1 | c.869C>T (p.Thr290Ile) c.881C>T (p.Thr294Ile) c.164+222C>T n.480C>T c.989C>T (p.Thr330Ile) c.977C>T (p.Thr326Ile) c.770C>T (p.Thr257Ile) c.674C>T (p.Thr225Ile) c.554C>T (p.Thr185Ile) c.164C>T (p.Thr55Ile) | |
5 | g.139379734G>C | CA361139643 | SLC23A1 | c.869C>G (p.Thr290Ser) c.881C>G (p.Thr294Ser) c.164+222C>G n.480C>G c.989C>G (p.Thr330Ser) c.977C>G (p.Thr326Ser) c.770C>G (p.Thr257Ser) c.674C>G (p.Thr225Ser) c.554C>G (p.Thr185Ser) c.164C>G (p.Thr55Ser) | gnomAD v4 |
5 | g.139379734G>T | CA361139641 | SLC23A1 | c.869C>A (p.Thr290Asn) c.881C>A (p.Thr294Asn) c.164+222C>A n.480C>A c.989C>A (p.Thr330Asn) c.977C>A (p.Thr326Asn) c.770C>A (p.Thr257Asn) c.674C>A (p.Thr225Asn) c.554C>A (p.Thr185Asn) c.164C>A (p.Thr55Asn) | |
5 | g.139379735T>A | CA361139646 | SLC23A1 | c.868A>T (p.Thr290Ser) c.880A>T (p.Thr294Ser) c.164+221A>T n.479A>T c.988A>T (p.Thr330Ser) c.976A>T (p.Thr326Ser) c.769A>T (p.Thr257Ser) c.673A>T (p.Thr225Ser) c.553A>T (p.Thr185Ser) c.163A>T (p.Thr55Ser) | |
5 | g.139379735T>C | CA361139648 | SLC23A1 | c.868A>G (p.Thr290Ala) c.880A>G (p.Thr294Ala) c.164+221A>G n.479A>G c.988A>G (p.Thr330Ala) c.976A>G (p.Thr326Ala) c.769A>G (p.Thr257Ala) c.673A>G (p.Thr225Ala) c.553A>G (p.Thr185Ala) c.163A>G (p.Thr55Ala) | |
5 | g.139379735T>G | CA361139651 | SLC23A1 | c.868A>C (p.Thr290Pro) c.880A>C (p.Thr294Pro) c.164+221A>C n.479A>C c.988A>C (p.Thr330Pro) c.976A>C (p.Thr326Pro) c.769A>C (p.Thr257Pro) c.673A>C (p.Thr225Pro) c.553A>C (p.Thr185Pro) c.163A>C (p.Thr55Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.139379735T= | CA1586303691 | SLC23A1 | c.868A= (p.Thr290=) c.880A= (p.Thr294=) c.164+221A= n.479A= c.988A= (p.Thr330=) c.976A= (p.Thr326=) c.769A= (p.Thr257=) c.673A= (p.Thr225=) c.553A= (p.Thr185=) c.163A= (p.Thr55=) | |
5 | g.139379736T>A | CA446793961 | SLC23A1 | c.867A>T (p.Arg289=) c.879A>T (p.Arg293=) c.164+220A>T n.478A>T c.987A>T (p.Arg329=) c.975A>T (p.Arg325=) c.768A>T (p.Arg256=) c.672A>T (p.Arg224=) c.552A>T (p.Arg184=) c.162A>T (p.Arg54=) | |
5 | g.139379736T>C | CA446793963 | SLC23A1 | c.867A>G (p.Arg289=) c.879A>G (p.Arg293=) c.164+220A>G n.478A>G c.987A>G (p.Arg329=) c.975A>G (p.Arg325=) c.768A>G (p.Arg256=) c.672A>G (p.Arg224=) c.552A>G (p.Arg184=) c.162A>G (p.Arg54=) | |
5 | g.139379736T>G | CA446793962 | SLC23A1 | c.867A>C (p.Arg289=) c.879A>C (p.Arg293=) c.164+220A>C n.478A>C c.987A>C (p.Arg329=) c.975A>C (p.Arg325=) c.768A>C (p.Arg256=) c.672A>C (p.Arg224=) c.552A>C (p.Arg184=) c.162A>C (p.Arg54=) | |
5 | g.139379737C>A | CA361139654 | SLC23A1 | c.866G>T (p.Arg289Leu) c.878G>T (p.Arg293Leu) c.164+219G>T n.477G>T c.986G>T (p.Arg329Leu) c.974G>T (p.Arg325Leu) c.767G>T (p.Arg256Leu) c.671G>T (p.Arg224Leu) c.551G>T (p.Arg184Leu) c.161G>T (p.Arg54Leu) | |
5 | g.139379737C= | CA1586303696 | SLC23A1 | c.866G= (p.Arg289=) c.878G= (p.Arg293=) c.164+219G= n.477G= c.986G= (p.Arg329=) c.974G= (p.Arg325=) c.767G= (p.Arg256=) c.671G= (p.Arg224=) c.551G= (p.Arg184=) c.161G= (p.Arg54=) | |
5 | g.139379737C>G | CA361139656 | SLC23A1 | c.866G>C (p.Arg289Pro) c.878G>C (p.Arg293Pro) c.164+219G>C n.477G>C c.986G>C (p.Arg329Pro) c.974G>C (p.Arg325Pro) c.767G>C (p.Arg256Pro) c.671G>C (p.Arg224Pro) c.551G>C (p.Arg184Pro) c.161G>C (p.Arg54Pro) | |
5 | g.139379737C>T | CA361139659 | SLC23A1 | c.866G>A (p.Arg289Gln) c.878G>A (p.Arg293Gln) c.164+219G>A n.477G>A c.986G>A (p.Arg329Gln) c.974G>A (p.Arg325Gln) c.767G>A (p.Arg256Gln) c.671G>A (p.Arg224Gln) c.551G>A (p.Arg184Gln) c.161G>A (p.Arg54Gln) | dbSNP gnomAD v4 |
5 | g.139379738G>A | CA3434035 | SLC23A1 | c.865C>T (p.Arg289Ter) c.877C>T (p.Arg293Ter) c.164+218C>T n.476C>T c.985C>T (p.Arg329Ter) c.973C>T (p.Arg325Ter) c.766C>T (p.Arg256Ter) c.670C>T (p.Arg224Ter) c.550C>T (p.Arg184Ter) c.160C>T (p.Arg54Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.139379738G>C | CA128242421 | SLC23A1 | c.865C>G (p.Arg289Gly) c.877C>G (p.Arg293Gly) c.164+218C>G n.476C>G c.985C>G (p.Arg329Gly) c.973C>G (p.Arg325Gly) c.766C>G (p.Arg256Gly) c.670C>G (p.Arg224Gly) c.550C>G (p.Arg184Gly) c.160C>G (p.Arg54Gly) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.139379738G= | CA1586303700 | SLC23A1 | c.865C= (p.Arg289=) c.877C= (p.Arg293=) c.164+218C= n.476C= c.985C= (p.Arg329=) c.973C= (p.Arg325=) c.766C= (p.Arg256=) c.670C= (p.Arg224=) c.550C= (p.Arg184=) c.160C= (p.Arg54=) | |
5 | g.139379738G>T | CA446793964 | SLC23A1 | c.865C>A (p.Arg289=) c.877C>A (p.Arg293=) c.164+218C>A n.476C>A c.985C>A (p.Arg329=) c.973C>A (p.Arg325=) c.766C>A (p.Arg256=) c.670C>A (p.Arg224=) c.550C>A (p.Arg184=) c.160C>A (p.Arg54=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.139379739T>A | CA446793965 | SLC23A1 | c.864A>T (p.Ala288=) c.876A>T (p.Ala292=) c.164+217A>T n.475A>T c.984A>T (p.Ala328=) c.972A>T (p.Ala324=) c.765A>T (p.Ala255=) c.669A>T (p.Ala223=) c.549A>T (p.Ala183=) c.159A>T (p.Ala53=) | |
5 | g.139379739T>C | CA446793967 | SLC23A1 | c.864A>G (p.Ala288=) c.876A>G (p.Ala292=) c.164+217A>G n.475A>G c.984A>G (p.Ala328=) c.972A>G (p.Ala324=) c.765A>G (p.Ala255=) c.669A>G (p.Ala223=) c.549A>G (p.Ala183=) c.159A>G (p.Ala53=) | |
5 | g.139379739T>G | CA446793968 | SLC23A1 | c.864A>C (p.Ala288=) c.876A>C (p.Ala292=) c.164+217A>C n.475A>C c.984A>C (p.Ala328=) c.972A>C (p.Ala324=) c.765A>C (p.Ala255=) c.669A>C (p.Ala223=) c.549A>C (p.Ala183=) c.159A>C (p.Ala53=) | |
5 | g.139379740G>A | CA361139662 | SLC23A1 | c.863C>T (p.Ala288Val) c.875C>T (p.Ala292Val) c.164+216C>T n.474C>T c.983C>T (p.Ala328Val) c.971C>T (p.Ala324Val) c.764C>T (p.Ala255Val) c.668C>T (p.Ala223Val) c.548C>T (p.Ala183Val) c.158C>T (p.Ala53Val) | |
5 | g.139379740G>C | CA361139663 | SLC23A1 | c.863C>G (p.Ala288Gly) c.875C>G (p.Ala292Gly) c.164+216C>G n.474C>G c.983C>G (p.Ala328Gly) c.971C>G (p.Ala324Gly) c.764C>G (p.Ala255Gly) c.668C>G (p.Ala223Gly) c.548C>G (p.Ala183Gly) c.158C>G (p.Ala53Gly) | |
5 | g.139379740G>T | CA361139664 | SLC23A1 | c.863C>A (p.Ala288Glu) c.875C>A (p.Ala292Glu) c.164+216C>A n.474C>A c.983C>A (p.Ala328Glu) c.971C>A (p.Ala324Glu) c.764C>A (p.Ala255Glu) c.668C>A (p.Ala223Glu) c.548C>A (p.Ala183Glu) c.158C>A (p.Ala53Glu) | gnomAD v4 |
5 | g.139379741C>A | CA361139667 | SLC23A1 | c.862G>T (p.Ala288Ser) c.874G>T (p.Ala292Ser) c.164+215G>T n.473G>T c.982G>T (p.Ala328Ser) c.970G>T (p.Ala324Ser) c.763G>T (p.Ala255Ser) c.667G>T (p.Ala223Ser) c.547G>T (p.Ala183Ser) c.157G>T (p.Ala53Ser) | gnomAD v4 |
5 | g.139379741C>G | CA361139666 | SLC23A1 | c.862G>C (p.Ala288Pro) c.874G>C (p.Ala292Pro) c.164+215G>C n.473G>C c.982G>C (p.Ala328Pro) c.970G>C (p.Ala324Pro) c.763G>C (p.Ala255Pro) c.667G>C (p.Ala223Pro) c.547G>C (p.Ala183Pro) c.157G>C (p.Ala53Pro) | |
5 | g.139379741C>T | CA361139665 | SLC23A1 | c.862G>A (p.Ala288Thr) c.874G>A (p.Ala292Thr) c.164+215G>A n.473G>A c.982G>A (p.Ala328Thr) c.970G>A (p.Ala324Thr) c.763G>A (p.Ala255Thr) c.667G>A (p.Ala223Thr) c.547G>A (p.Ala183Thr) c.157G>A (p.Ala53Thr) | |
5 | g.139379742C>A | CA361139668 | SLC23A1 | c.861G>T (p.Gln287His) c.873G>T (p.Gln291His) c.164+214G>T n.472G>T c.981G>T (p.Gln327His) c.969G>T (p.Gln323His) c.762G>T (p.Gln254His) c.666G>T (p.Gln222His) c.546G>T (p.Gln182His) c.156G>T (p.Gln52His) | |
5 | g.139379742C>G | CA361139669 | SLC23A1 | c.861G>C (p.Gln287His) c.873G>C (p.Gln291His) c.164+214G>C n.472G>C c.981G>C (p.Gln327His) c.969G>C (p.Gln323His) c.762G>C (p.Gln254His) c.666G>C (p.Gln222His) c.546G>C (p.Gln182His) c.156G>C (p.Gln52His) | |
5 | g.139379742C>T | CA446793970 | SLC23A1 | c.861G>A (p.Gln287=) c.873G>A (p.Gln291=) c.164+214G>A n.472G>A c.981G>A (p.Gln327=) c.969G>A (p.Gln323=) c.762G>A (p.Gln254=) c.666G>A (p.Gln222=) c.546G>A (p.Gln182=) c.156G>A (p.Gln52=) | |
5 | g.139379743T>A | CA361139670 | SLC23A1 | c.860A>T (p.Gln287Leu) c.872A>T (p.Gln291Leu) c.164+213A>T n.471A>T c.980A>T (p.Gln327Leu) c.968A>T (p.Gln323Leu) c.761A>T (p.Gln254Leu) c.665A>T (p.Gln222Leu) c.545A>T (p.Gln182Leu) c.155A>T (p.Gln52Leu) | |
5 | g.139379743T>C | CA361139671 | SLC23A1 | c.860A>G (p.Gln287Arg) c.872A>G (p.Gln291Arg) c.164+213A>G n.471A>G c.980A>G (p.Gln327Arg) c.968A>G (p.Gln323Arg) c.761A>G (p.Gln254Arg) c.665A>G (p.Gln222Arg) c.545A>G (p.Gln182Arg) c.155A>G (p.Gln52Arg) | dbSNP gnomAD v4 |
5 | g.139379743T>G | CA361139672 | SLC23A1 | c.860A>C (p.Gln287Pro) c.872A>C (p.Gln291Pro) c.164+213A>C n.471A>C c.980A>C (p.Gln327Pro) c.968A>C (p.Gln323Pro) c.761A>C (p.Gln254Pro) c.665A>C (p.Gln222Pro) c.545A>C (p.Gln182Pro) c.155A>C (p.Gln52Pro) | |
5 | g.139379743T= | CA1586303704 | SLC23A1 | c.860A= (p.Gln287=) c.872A= (p.Gln291=) c.164+213A= n.471A= c.980A= (p.Gln327=) c.968A= (p.Gln323=) c.761A= (p.Gln254=) c.665A= (p.Gln222=) c.545A= (p.Gln182=) c.155A= (p.Gln52=) | |
5 | g.139379744G>A | CA361139673 | SLC23A1 | c.859C>T (p.Gln287Ter) c.871C>T (p.Gln291Ter) c.164+212C>T n.470C>T c.979C>T (p.Gln327Ter) c.967C>T (p.Gln323Ter) c.760C>T (p.Gln254Ter) c.664C>T (p.Gln222Ter) c.544C>T (p.Gln182Ter) c.154C>T (p.Gln52Ter) | gnomAD v4 |
5 | g.139379744G>C | CA361139674 | SLC23A1 | c.859C>G (p.Gln287Glu) c.871C>G (p.Gln291Glu) c.164+212C>G n.470C>G c.979C>G (p.Gln327Glu) c.967C>G (p.Gln323Glu) c.760C>G (p.Gln254Glu) c.664C>G (p.Gln222Glu) c.544C>G (p.Gln182Glu) c.154C>G (p.Gln52Glu) | |
5 | g.139379744G>T | CA361139675 | SLC23A1 | c.859C>A (p.Gln287Lys) c.871C>A (p.Gln291Lys) c.164+212C>A n.470C>A c.979C>A (p.Gln327Lys) c.967C>A (p.Gln323Lys) c.760C>A (p.Gln254Lys) c.664C>A (p.Gln222Lys) c.544C>A (p.Gln182Lys) c.154C>A (p.Gln52Lys) | |
5 | g.139379745G>A | CA446793973 | SLC23A1 | c.858C>T (p.Phe286=) c.870C>T (p.Phe290=) c.164+211C>T n.469C>T c.978C>T (p.Phe326=) c.966C>T (p.Phe322=) c.759C>T (p.Phe253=) c.663C>T (p.Phe221=) c.543C>T (p.Phe181=) c.153C>T (p.Phe51=) | |
5 | g.139379745G>C | CA361139676 | SLC23A1 | c.858C>G (p.Phe286Leu) c.870C>G (p.Phe290Leu) c.164+211C>G n.469C>G c.978C>G (p.Phe326Leu) c.966C>G (p.Phe322Leu) c.759C>G (p.Phe253Leu) c.663C>G (p.Phe221Leu) c.543C>G (p.Phe181Leu) c.153C>G (p.Phe51Leu) | |
5 | g.139379745G= | CA1586303708 | SLC23A1 | c.858C= (p.Phe286=) c.870C= (p.Phe290=) c.164+211C= n.469C= c.978C= (p.Phe326=) c.966C= (p.Phe322=) c.759C= (p.Phe253=) c.663C= (p.Phe221=) c.543C= (p.Phe181=) c.153C= (p.Phe51=) | |
5 | g.139379745G>T | CA128242423 | SLC23A1 | c.858C>A (p.Phe286Leu) c.870C>A (p.Phe290Leu) c.164+211C>A n.469C>A c.978C>A (p.Phe326Leu) c.966C>A (p.Phe322Leu) c.759C>A (p.Phe253Leu) c.663C>A (p.Phe221Leu) c.543C>A (p.Phe181Leu) c.153C>A (p.Phe51Leu) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.139379746A>C | CA361139677 | SLC23A1 | c.857T>G (p.Phe286Cys) c.869T>G (p.Phe290Cys) c.164+210T>G n.468T>G c.977T>G (p.Phe326Cys) c.965T>G (p.Phe322Cys) c.758T>G (p.Phe253Cys) c.662T>G (p.Phe221Cys) c.542T>G (p.Phe181Cys) c.152T>G (p.Phe51Cys) | |
5 | g.139379746A>G | CA361139678 | SLC23A1 | c.857T>C (p.Phe286Ser) c.869T>C (p.Phe290Ser) c.164+210T>C n.468T>C c.977T>C (p.Phe326Ser) c.965T>C (p.Phe322Ser) c.758T>C (p.Phe253Ser) c.662T>C (p.Phe221Ser) c.542T>C (p.Phe181Ser) c.152T>C (p.Phe51Ser) | |
5 | g.139379746A>T | CA361139679 | SLC23A1 | c.857T>A (p.Phe286Tyr) c.869T>A (p.Phe290Tyr) c.164+210T>A n.468T>A c.977T>A (p.Phe326Tyr) c.965T>A (p.Phe322Tyr) c.758T>A (p.Phe253Tyr) c.662T>A (p.Phe221Tyr) c.542T>A (p.Phe181Tyr) c.152T>A (p.Phe51Tyr) | |
5 | g.139379747A>C | CA361139681 | SLC23A1 | c.856T>G (p.Phe286Val) c.868T>G (p.Phe290Val) c.164+209T>G n.467T>G c.976T>G (p.Phe326Val) c.964T>G (p.Phe322Val) c.757T>G (p.Phe253Val) c.661T>G (p.Phe221Val) c.541T>G (p.Phe181Val) c.151T>G (p.Phe51Val) | |
5 | g.139379747A>G | CA361139682 | SLC23A1 | c.856T>C (p.Phe286Leu) c.868T>C (p.Phe290Leu) c.164+209T>C n.467T>C c.976T>C (p.Phe326Leu) c.964T>C (p.Phe322Leu) c.757T>C (p.Phe253Leu) c.661T>C (p.Phe221Leu) c.541T>C (p.Phe181Leu) c.151T>C (p.Phe51Leu) | |
5 | g.139379747A>T | CA361139680 | SLC23A1 | c.856T>A (p.Phe286Ile) c.868T>A (p.Phe290Ile) c.164+209T>A n.467T>A c.976T>A (p.Phe326Ile) c.964T>A (p.Phe322Ile) c.757T>A (p.Phe253Ile) c.661T>A (p.Phe221Ile) c.541T>A (p.Phe181Ile) c.151T>A (p.Phe51Ile) | |
5 | g.139379748G>A | CA446793978 | SLC23A1 | c.855C>T (p.Gly285=) c.867C>T (p.Gly289=) c.164+208C>T n.466C>T c.975C>T (p.Gly325=) c.963C>T (p.Gly321=) c.756C>T (p.Gly252=) c.660C>T (p.Gly220=) c.540C>T (p.Gly180=) c.150C>T (p.Gly50=) | gnomAD v4 |
5 | g.139379748G>C | CA446793979 | SLC23A1 | c.855C>G (p.Gly285=) c.867C>G (p.Gly289=) c.164+208C>G n.466C>G c.975C>G (p.Gly325=) c.963C>G (p.Gly321=) c.756C>G (p.Gly252=) c.660C>G (p.Gly220=) c.540C>G (p.Gly180=) c.150C>G (p.Gly50=) | |
5 | g.139379748G>T | CA446793980 | SLC23A1 | c.855C>A (p.Gly285=) c.867C>A (p.Gly289=) c.164+208C>A n.466C>A c.975C>A (p.Gly325=) c.963C>A (p.Gly321=) c.756C>A (p.Gly252=) c.660C>A (p.Gly220=) c.540C>A (p.Gly180=) c.150C>A (p.Gly50=) | |
5 | g.139379749C>A | CA361139685 | SLC23A1 | c.854G>T (p.Gly285Val) c.866G>T (p.Gly289Val) c.164+207G>T n.465G>T c.974G>T (p.Gly325Val) c.962G>T (p.Gly321Val) c.755G>T (p.Gly252Val) c.659G>T (p.Gly220Val) c.539G>T (p.Gly180Val) c.149G>T (p.Gly50Val) | |
5 | g.139379749C>G | CA361139683 | SLC23A1 | c.854G>C (p.Gly285Ala) c.866G>C (p.Gly289Ala) c.164+207G>C n.465G>C c.974G>C (p.Gly325Ala) c.962G>C (p.Gly321Ala) c.755G>C (p.Gly252Ala) c.659G>C (p.Gly220Ala) c.539G>C (p.Gly180Ala) c.149G>C (p.Gly50Ala) | gnomAD v4 |
5 | g.139379749C>T | CA361139684 | SLC23A1 | c.854G>A (p.Gly285Asp) c.866G>A (p.Gly289Asp) c.164+207G>A n.465G>A c.974G>A (p.Gly325Asp) c.962G>A (p.Gly321Asp) c.755G>A (p.Gly252Asp) c.659G>A (p.Gly220Asp) c.539G>A (p.Gly180Asp) c.149G>A (p.Gly50Asp) | gnomAD v4 |
5 | g.139379750C>A | CA361139686 | SLC23A1 | c.853G>T (p.Gly285Cys) c.865G>T (p.Gly289Cys) c.164+206G>T n.464G>T c.973G>T (p.Gly325Cys) c.961G>T (p.Gly321Cys) c.754G>T (p.Gly252Cys) c.658G>T (p.Gly220Cys) c.538G>T (p.Gly180Cys) c.148G>T (p.Gly50Cys) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.139379750C= | CA1586303712 | SLC23A1 | c.853G= (p.Gly285=) c.865G= (p.Gly289=) c.164+206G= n.464G= c.973G= (p.Gly325=) c.961G= (p.Gly321=) c.754G= (p.Gly252=) c.658G= (p.Gly220=) c.538G= (p.Gly180=) c.148G= (p.Gly50=) | |
5 | g.139379750C>G | CA361139687 | SLC23A1 | c.853G>C (p.Gly285Arg) c.865G>C (p.Gly289Arg) c.164+206G>C n.464G>C c.973G>C (p.Gly325Arg) c.961G>C (p.Gly321Arg) c.754G>C (p.Gly252Arg) c.658G>C (p.Gly220Arg) c.538G>C (p.Gly180Arg) c.148G>C (p.Gly50Arg) | |
5 | g.139379750C>T | CA361139688 | SLC23A1 | c.853G>A (p.Gly285Ser) c.865G>A (p.Gly289Ser) c.164+206G>A n.464G>A c.973G>A (p.Gly325Ser) c.961G>A (p.Gly321Ser) c.754G>A (p.Gly252Ser) c.658G>A (p.Gly220Ser) c.538G>A (p.Gly180Ser) c.148G>A (p.Gly50Ser) | gnomAD v4 |
5 | g.139379751A= | CA1586303715 | SLC23A1 | c.852T= (p.Tyr284=) c.864T= (p.Tyr288=) c.164+205T= n.463T= c.972T= (p.Tyr324=) c.960T= (p.Tyr320=) c.753T= (p.Tyr251=) c.657T= (p.Tyr219=) c.537T= (p.Tyr179=) c.147T= (p.Tyr49=) | |
5 | g.139379751A>C | CA361139690 | SLC23A1 | c.852T>G (p.Tyr284Ter) c.864T>G (p.Tyr288Ter) c.164+205T>G n.463T>G c.972T>G (p.Tyr324Ter) c.960T>G (p.Tyr320Ter) c.753T>G (p.Tyr251Ter) c.657T>G (p.Tyr219Ter) c.537T>G (p.Tyr179Ter) c.147T>G (p.Tyr49Ter) | gnomAD v4 |
5 | g.139379751A>G | CA128242427 | SLC23A1 | c.852T>C (p.Tyr284=) c.864T>C (p.Tyr288=) c.164+205T>C n.463T>C c.972T>C (p.Tyr324=) c.960T>C (p.Tyr320=) c.753T>C (p.Tyr251=) c.657T>C (p.Tyr219=) c.537T>C (p.Tyr179=) c.147T>C (p.Tyr49=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.139379751A>T | CA361139689 | SLC23A1 | c.852T>A (p.Tyr284Ter) c.864T>A (p.Tyr288Ter) c.164+205T>A n.463T>A c.972T>A (p.Tyr324Ter) c.960T>A (p.Tyr320Ter) c.753T>A (p.Tyr251Ter) c.657T>A (p.Tyr219Ter) c.537T>A (p.Tyr179Ter) c.147T>A (p.Tyr49Ter) | |
5 | g.139379752T>A | CA361139691 | SLC23A1 | c.851A>T (p.Tyr284Phe) c.863A>T (p.Tyr288Phe) c.164+204A>T n.462A>T c.971A>T (p.Tyr324Phe) c.959A>T (p.Tyr320Phe) c.752A>T (p.Tyr251Phe) c.656A>T (p.Tyr219Phe) c.536A>T (p.Tyr179Phe) c.146A>T (p.Tyr49Phe) | |
5 | g.139379752T>C | CA361139692 | SLC23A1 | c.851A>G (p.Tyr284Cys) c.863A>G (p.Tyr288Cys) c.164+204A>G n.462A>G c.971A>G (p.Tyr324Cys) c.959A>G (p.Tyr320Cys) c.752A>G (p.Tyr251Cys) c.656A>G (p.Tyr219Cys) c.536A>G (p.Tyr179Cys) c.146A>G (p.Tyr49Cys) | gnomAD v4 |
5 | g.139379752T>G | CA361139693 | SLC23A1 | c.851A>C (p.Tyr284Ser) c.863A>C (p.Tyr288Ser) c.164+204A>C n.462A>C c.971A>C (p.Tyr324Ser) c.959A>C (p.Tyr320Ser) c.752A>C (p.Tyr251Ser) c.656A>C (p.Tyr219Ser) c.536A>C (p.Tyr179Ser) c.146A>C (p.Tyr49Ser) | dbSNP gnomAD v4 |
5 | g.139379752T= | CA1586303718 | SLC23A1 | c.851A= (p.Tyr284=) c.863A= (p.Tyr288=) c.164+204A= n.462A= c.971A= (p.Tyr324=) c.959A= (p.Tyr320=) c.752A= (p.Tyr251=) c.656A= (p.Tyr219=) c.536A= (p.Tyr179=) c.146A= (p.Tyr49=) | |
5 | g.139379753A>C | CA361139694 | SLC23A1 | c.850T>G (p.Tyr284Asp) c.862T>G (p.Tyr288Asp) c.164+203T>G n.461T>G c.970T>G (p.Tyr324Asp) c.958T>G (p.Tyr320Asp) c.751T>G (p.Tyr251Asp) c.655T>G (p.Tyr219Asp) c.535T>G (p.Tyr179Asp) c.145T>G (p.Tyr49Asp) | |
5 | g.139379753A>G | CA361139695 | SLC23A1 | c.850T>C (p.Tyr284His) c.862T>C (p.Tyr288His) c.164+203T>C n.461T>C c.970T>C (p.Tyr324His) c.958T>C (p.Tyr320His) c.751T>C (p.Tyr251His) c.655T>C (p.Tyr219His) c.535T>C (p.Tyr179His) c.145T>C (p.Tyr49His) | |
5 | g.139379753A>T | CA361139696 | SLC23A1 | c.850T>A (p.Tyr284Asn) c.862T>A (p.Tyr288Asn) c.164+203T>A n.461T>A c.970T>A (p.Tyr324Asn) c.958T>A (p.Tyr320Asn) c.751T>A (p.Tyr251Asn) c.655T>A (p.Tyr219Asn) c.535T>A (p.Tyr179Asn) c.145T>A (p.Tyr49Asn) | |
5 | g.139379754G>A | CA446793982 | SLC23A1 | c.849C>T (p.Ala283=) c.861C>T (p.Ala287=) c.164+202C>T n.460C>T c.969C>T (p.Ala323=) c.957C>T (p.Ala319=) c.750C>T (p.Ala250=) c.654C>T (p.Ala218=) c.534C>T (p.Ala178=) c.144C>T (p.Ala48=) | |
5 | g.139379754G>C | CA446793983 | SLC23A1 | c.849C>G (p.Ala283=) c.861C>G (p.Ala287=) c.164+202C>G n.460C>G c.969C>G (p.Ala323=) c.957C>G (p.Ala319=) c.750C>G (p.Ala250=) c.654C>G (p.Ala218=) c.534C>G (p.Ala178=) c.144C>G (p.Ala48=) | |
5 | g.139379754G>T | CA446793985 | SLC23A1 | c.849C>A (p.Ala283=) c.861C>A (p.Ala287=) c.164+202C>A n.460C>A c.969C>A (p.Ala323=) c.957C>A (p.Ala319=) c.750C>A (p.Ala250=) c.654C>A (p.Ala218=) c.534C>A (p.Ala178=) c.144C>A (p.Ala48=) | |
5 | g.139379755G>A | CA361139697 | SLC23A1 | c.848C>T (p.Ala283Val) c.860C>T (p.Ala287Val) c.164+201C>T n.459C>T c.968C>T (p.Ala323Val) c.956C>T (p.Ala319Val) c.749C>T (p.Ala250Val) c.653C>T (p.Ala218Val) c.533C>T (p.Ala178Val) c.143C>T (p.Ala48Val) | |
5 | g.139379755G>C | CA361139699 | SLC23A1 | c.848C>G (p.Ala283Gly) c.860C>G (p.Ala287Gly) c.164+201C>G n.459C>G c.968C>G (p.Ala323Gly) c.956C>G (p.Ala319Gly) c.749C>G (p.Ala250Gly) c.653C>G (p.Ala218Gly) c.533C>G (p.Ala178Gly) c.143C>G (p.Ala48Gly) | |
5 | g.139379755G>T | CA361139698 | SLC23A1 | c.848C>A (p.Ala283Asp) c.860C>A (p.Ala287Asp) c.164+201C>A n.459C>A c.968C>A (p.Ala323Asp) c.956C>A (p.Ala319Asp) c.749C>A (p.Ala250Asp) c.653C>A (p.Ala218Asp) c.533C>A (p.Ala178Asp) c.143C>A (p.Ala48Asp) | gnomAD v4 |
5 | g.139379756C>A | CA361139700 | SLC23A1 | c.847G>T (p.Ala283Ser) c.859G>T (p.Ala287Ser) c.164+200G>T n.458G>T c.967G>T (p.Ala323Ser) c.955G>T (p.Ala319Ser) c.748G>T (p.Ala250Ser) c.652G>T (p.Ala218Ser) c.532G>T (p.Ala178Ser) c.142G>T (p.Ala48Ser) | |
5 | g.139379756C>G | CA361139701 | SLC23A1 | c.847G>C (p.Ala283Pro) c.859G>C (p.Ala287Pro) c.164+200G>C n.458G>C c.967G>C (p.Ala323Pro) c.955G>C (p.Ala319Pro) c.748G>C (p.Ala250Pro) c.652G>C (p.Ala218Pro) c.532G>C (p.Ala178Pro) c.142G>C (p.Ala48Pro) | |
5 | g.139379756C>T | CA361139702 | SLC23A1 | c.847G>A (p.Ala283Thr) c.859G>A (p.Ala287Thr) c.164+200G>A n.458G>A c.967G>A (p.Ala323Thr) c.955G>A (p.Ala319Thr) c.748G>A (p.Ala250Thr) c.652G>A (p.Ala218Thr) c.532G>A (p.Ala178Thr) c.142G>A (p.Ala48Thr) | |
5 | g.139379757T>A | CA361139703 | SLC23A1 | c.846A>T (p.Lys282Asn) c.858A>T (p.Lys286Asn) c.164+199A>T n.457A>T c.966A>T (p.Lys322Asn) c.954A>T (p.Lys318Asn) c.747A>T (p.Lys249Asn) c.651A>T (p.Lys217Asn) c.531A>T (p.Lys177Asn) c.141A>T (p.Lys47Asn) | |
5 | g.139379757T>C | CA446793988 | SLC23A1 | c.846A>G (p.Lys282=) c.858A>G (p.Lys286=) c.164+199A>G n.457A>G c.966A>G (p.Lys322=) c.954A>G (p.Lys318=) c.747A>G (p.Lys249=) c.651A>G (p.Lys217=) c.531A>G (p.Lys177=) c.141A>G (p.Lys47=) | |
5 | g.139379757T>G | CA361139704 | SLC23A1 | c.846A>C (p.Lys282Asn) c.858A>C (p.Lys286Asn) c.164+199A>C n.457A>C c.966A>C (p.Lys322Asn) c.954A>C (p.Lys318Asn) c.747A>C (p.Lys249Asn) c.651A>C (p.Lys217Asn) c.531A>C (p.Lys177Asn) c.141A>C (p.Lys47Asn) | |
5 | g.139379758T>A | CA361139705 | SLC23A1 | c.845A>T (p.Lys282Ile) c.857A>T (p.Lys286Ile) c.164+198A>T n.456A>T c.965A>T (p.Lys322Ile) c.953A>T (p.Lys318Ile) c.746A>T (p.Lys249Ile) c.650A>T (p.Lys217Ile) c.530A>T (p.Lys177Ile) c.140A>T (p.Lys47Ile) | |
5 | g.139379758T>C | CA361139706 | SLC23A1 | c.845A>G (p.Lys282Arg) c.857A>G (p.Lys286Arg) c.164+198A>G n.456A>G c.965A>G (p.Lys322Arg) c.953A>G (p.Lys318Arg) c.746A>G (p.Lys249Arg) c.650A>G (p.Lys217Arg) c.530A>G (p.Lys177Arg) c.140A>G (p.Lys47Arg) | |
5 | g.139379758T>G | CA361139707 | SLC23A1 | c.845A>C (p.Lys282Thr) c.857A>C (p.Lys286Thr) c.164+198A>C n.456A>C c.965A>C (p.Lys322Thr) c.953A>C (p.Lys318Thr) c.746A>C (p.Lys249Thr) c.650A>C (p.Lys217Thr) c.530A>C (p.Lys177Thr) c.140A>C (p.Lys47Thr) | |
5 | g.139379759T>A | CA361139708 | SLC23A1 | c.844A>T (p.Lys282Ter) c.856A>T (p.Lys286Ter) c.164+197A>T n.455A>T c.964A>T (p.Lys322Ter) c.952A>T (p.Lys318Ter) c.745A>T (p.Lys249Ter) c.649A>T (p.Lys217Ter) c.529A>T (p.Lys177Ter) c.139A>T (p.Lys47Ter) | |
5 | g.139379759T>C | CA361139709 | SLC23A1 | c.844A>G (p.Lys282Glu) c.856A>G (p.Lys286Glu) c.164+197A>G n.455A>G c.964A>G (p.Lys322Glu) c.952A>G (p.Lys318Glu) c.745A>G (p.Lys249Glu) c.649A>G (p.Lys217Glu) c.529A>G (p.Lys177Glu) c.139A>G (p.Lys47Glu) | |
5 | g.139379759T>G | CA361139710 | SLC23A1 | c.844A>C (p.Lys282Gln) c.856A>C (p.Lys286Gln) c.164+197A>C n.455A>C c.964A>C (p.Lys322Gln) c.952A>C (p.Lys318Gln) c.745A>C (p.Lys249Gln) c.649A>C (p.Lys217Gln) c.529A>C (p.Lys177Gln) c.139A>C (p.Lys47Gln) | |
5 | g.139379760T>A | CA446793991 | SLC23A1 | c.843A>T (p.Pro281=) c.855A>T (p.Pro285=) c.164+196A>T n.454A>T c.963A>T (p.Pro321=) c.951A>T (p.Pro317=) c.744A>T (p.Pro248=) c.648A>T (p.Pro216=) c.528A>T (p.Pro176=) c.138A>T (p.Pro46=) | |
5 | g.139379760T>C | CA446793993 | SLC23A1 | c.843A>G (p.Pro281=) c.855A>G (p.Pro285=) c.164+196A>G n.454A>G c.963A>G (p.Pro321=) c.951A>G (p.Pro317=) c.744A>G (p.Pro248=) c.648A>G (p.Pro216=) c.528A>G (p.Pro176=) c.138A>G (p.Pro46=) | |
5 | g.139379760T>G | CA446793995 | SLC23A1 | c.843A>C (p.Pro281=) c.855A>C (p.Pro285=) c.164+196A>C n.454A>C c.963A>C (p.Pro321=) c.951A>C (p.Pro317=) c.744A>C (p.Pro248=) c.648A>C (p.Pro216=) c.528A>C (p.Pro176=) c.138A>C (p.Pro46=) | |
5 | g.139379761G>A | CA361139718 | SLC23A1 | c.842C>T (p.Pro281Leu) c.854C>T (p.Pro285Leu) c.164+195C>T n.453C>T c.962C>T (p.Pro321Leu) c.950C>T (p.Pro317Leu) c.743C>T (p.Pro248Leu) c.647C>T (p.Pro216Leu) c.527C>T (p.Pro176Leu) c.137C>T (p.Pro46Leu) | |
5 | g.139379761G>C | CA361139716 | SLC23A1 | c.842C>G (p.Pro281Arg) c.854C>G (p.Pro285Arg) c.164+195C>G n.453C>G c.962C>G (p.Pro321Arg) c.950C>G (p.Pro317Arg) c.743C>G (p.Pro248Arg) c.647C>G (p.Pro216Arg) c.527C>G (p.Pro176Arg) c.137C>G (p.Pro46Arg) | |
5 | g.139379761G>T | CA361139713 | SLC23A1 | c.842C>A (p.Pro281Gln) c.854C>A (p.Pro285Gln) c.164+195C>A n.453C>A c.962C>A (p.Pro321Gln) c.950C>A (p.Pro317Gln) c.743C>A (p.Pro248Gln) c.647C>A (p.Pro216Gln) c.527C>A (p.Pro176Gln) c.137C>A (p.Pro46Gln) | |
5 | g.139379762G>A | CA361139722 | SLC23A1 | c.841C>T (p.Pro281Ser) c.853C>T (p.Pro285Ser) c.164+194C>T n.452C>T c.961C>T (p.Pro321Ser) c.949C>T (p.Pro317Ser) c.742C>T (p.Pro248Ser) c.646C>T (p.Pro216Ser) c.526C>T (p.Pro176Ser) c.136C>T (p.Pro46Ser) | dbSNP gnomAD v4 |
5 | g.139379762G>C | CA361139724 | SLC23A1 | c.841C>G (p.Pro281Ala) c.853C>G (p.Pro285Ala) c.164+194C>G n.452C>G c.961C>G (p.Pro321Ala) c.949C>G (p.Pro317Ala) c.742C>G (p.Pro248Ala) c.646C>G (p.Pro216Ala) c.526C>G (p.Pro176Ala) c.136C>G (p.Pro46Ala) | |
5 | g.139379762G= | CA1586303722 | SLC23A1 | c.841C= (p.Pro281=) c.853C= (p.Pro285=) c.164+194C= n.452C= c.961C= (p.Pro321=) c.949C= (p.Pro317=) c.742C= (p.Pro248=) c.646C= (p.Pro216=) c.526C= (p.Pro176=) c.136C= (p.Pro46=) | |
5 | g.139379762G>T | CA361139726 | SLC23A1 | c.841C>A (p.Pro281Thr) c.853C>A (p.Pro285Thr) c.164+194C>A n.452C>A c.961C>A (p.Pro321Thr) c.949C>A (p.Pro317Thr) c.742C>A (p.Pro248Thr) c.646C>A (p.Pro216Thr) c.526C>A (p.Pro176Thr) c.136C>A (p.Pro46Thr) | |
5 | g.139379763G>A | CA3434036 | SLC23A1 | c.840C>T (p.Asp280=) c.852C>T (p.Asp284=) c.164+193C>T n.451C>T c.960C>T (p.Asp320=) c.948C>T (p.Asp316=) c.741C>T (p.Asp247=) c.645C>T (p.Asp215=) c.525C>T (p.Asp175=) c.135C>T (p.Asp45=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.139379763G>C | CA361139730 | SLC23A1 | c.840C>G (p.Asp280Glu) c.852C>G (p.Asp284Glu) c.164+193C>G n.451C>G c.960C>G (p.Asp320Glu) c.948C>G (p.Asp316Glu) c.741C>G (p.Asp247Glu) c.645C>G (p.Asp215Glu) c.525C>G (p.Asp175Glu) c.135C>G (p.Asp45Glu) | |
5 | g.139379763G= | CA1586303725 | SLC23A1 | c.840C= (p.Asp280=) c.852C= (p.Asp284=) c.164+193C= n.451C= c.960C= (p.Asp320=) c.948C= (p.Asp316=) c.741C= (p.Asp247=) c.645C= (p.Asp215=) c.525C= (p.Asp175=) c.135C= (p.Asp45=) | |
5 | g.139379763G>T | CA361139732 | SLC23A1 | c.840C>A (p.Asp280Glu) c.852C>A (p.Asp284Glu) c.164+193C>A n.451C>A c.960C>A (p.Asp320Glu) c.948C>A (p.Asp316Glu) c.741C>A (p.Asp247Glu) c.645C>A (p.Asp215Glu) c.525C>A (p.Asp175Glu) c.135C>A (p.Asp45Glu) | |
5 | g.139379764T>A | CA361139740 | SLC23A1 | c.839A>T (p.Asp280Val) c.851A>T (p.Asp284Val) c.164+192A>T n.450A>T c.959A>T (p.Asp320Val) c.947A>T (p.Asp316Val) c.740A>T (p.Asp247Val) c.644A>T (p.Asp215Val) c.524A>T (p.Asp175Val) c.134A>T (p.Asp45Val) | |
5 | g.139379764T>C | CA361139737 | SLC23A1 | c.839A>G (p.Asp280Gly) c.851A>G (p.Asp284Gly) c.164+192A>G n.450A>G c.959A>G (p.Asp320Gly) c.947A>G (p.Asp316Gly) c.740A>G (p.Asp247Gly) c.644A>G (p.Asp215Gly) c.524A>G (p.Asp175Gly) c.134A>G (p.Asp45Gly) | |
5 | g.139379764T>G | CA361139736 | SLC23A1 | c.839A>C (p.Asp280Ala) c.851A>C (p.Asp284Ala) c.164+192A>C n.450A>C c.959A>C (p.Asp320Ala) c.947A>C (p.Asp316Ala) c.740A>C (p.Asp247Ala) c.644A>C (p.Asp215Ala) c.524A>C (p.Asp175Ala) c.134A>C (p.Asp45Ala) | |
5 | g.139379765C>A | CA361139743 | SLC23A1 | c.838G>T (p.Asp280Tyr) c.850G>T (p.Asp284Tyr) c.164+191G>T n.449G>T c.958G>T (p.Asp320Tyr) c.946G>T (p.Asp316Tyr) c.739G>T (p.Asp247Tyr) c.643G>T (p.Asp215Tyr) c.523G>T (p.Asp175Tyr) c.133G>T (p.Asp45Tyr) | |
5 | g.139379765C>G | CA361139745 | SLC23A1 | c.838G>C (p.Asp280His) c.850G>C (p.Asp284His) c.164+191G>C n.449G>C c.958G>C (p.Asp320His) c.946G>C (p.Asp316His) c.739G>C (p.Asp247His) c.643G>C (p.Asp215His) c.523G>C (p.Asp175His) c.133G>C (p.Asp45His) | |
5 | g.139379765C>T | CA361139747 | SLC23A1 | c.838G>A (p.Asp280Asn) c.850G>A (p.Asp284Asn) c.164+191G>A n.449G>A c.958G>A (p.Asp320Asn) c.946G>A (p.Asp316Asn) c.739G>A (p.Asp247Asn) c.643G>A (p.Asp215Asn) c.523G>A (p.Asp175Asn) c.133G>A (p.Asp45Asn) | COSMIC |
5 | g.139379766T>A | CA446793999 | SLC23A1 | c.837A>T (p.Thr279=) c.849A>T (p.Thr283=) c.164+190A>T n.448A>T c.957A>T (p.Thr319=) c.945A>T (p.Thr315=) c.738A>T (p.Thr246=) c.642A>T (p.Thr214=) c.522A>T (p.Thr174=) c.132A>T (p.Thr44=) | |
5 | g.139379766T>C | CA446794001 | SLC23A1 | c.837A>G (p.Thr279=) c.849A>G (p.Thr283=) c.164+190A>G n.448A>G c.957A>G (p.Thr319=) c.945A>G (p.Thr315=) c.738A>G (p.Thr246=) c.642A>G (p.Thr214=) c.522A>G (p.Thr174=) c.132A>G (p.Thr44=) | |
5 | g.139379766T>G | CA446793998 | SLC23A1 | c.837A>C (p.Thr279=) c.849A>C (p.Thr283=) c.164+190A>C n.448A>C c.957A>C (p.Thr319=) c.945A>C (p.Thr315=) c.738A>C (p.Thr246=) c.642A>C (p.Thr214=) c.522A>C (p.Thr174=) c.132A>C (p.Thr44=) | |
5 | g.139379767G>A | CA361139749 | SLC23A1 | c.836C>T (p.Thr279Ile) c.848C>T (p.Thr283Ile) c.164+189C>T n.447C>T c.956C>T (p.Thr319Ile) c.944C>T (p.Thr315Ile) c.737C>T (p.Thr246Ile) c.641C>T (p.Thr214Ile) c.521C>T (p.Thr174Ile) c.131C>T (p.Thr44Ile) | gnomAD v4 |
5 | g.139379767G>C | CA361139756 | SLC23A1 | c.836C>G (p.Thr279Arg) c.848C>G (p.Thr283Arg) c.164+189C>G n.447C>G c.956C>G (p.Thr319Arg) c.944C>G (p.Thr315Arg) c.737C>G (p.Thr246Arg) c.641C>G (p.Thr214Arg) c.521C>G (p.Thr174Arg) c.131C>G (p.Thr44Arg) | |
5 | g.139379767G>T | CA361139758 | SLC23A1 | c.836C>A (p.Thr279Lys) c.848C>A (p.Thr283Lys) c.164+189C>A n.447C>A c.956C>A (p.Thr319Lys) c.944C>A (p.Thr315Lys) c.737C>A (p.Thr246Lys) c.641C>A (p.Thr214Lys) c.521C>A (p.Thr174Lys) c.131C>A (p.Thr44Lys) | |
5 | g.139379768T>A | CA361139762 | SLC23A1 | c.835A>T (p.Thr279Ser) c.847A>T (p.Thr283Ser) c.164+188A>T n.446A>T c.955A>T (p.Thr319Ser) c.943A>T (p.Thr315Ser) c.736A>T (p.Thr246Ser) c.640A>T (p.Thr214Ser) c.520A>T (p.Thr174Ser) c.130A>T (p.Thr44Ser) | |
5 | g.139379768T>C | CA361139766 | SLC23A1 | c.835A>G (p.Thr279Ala) c.847A>G (p.Thr283Ala) c.164+188A>G n.446A>G c.955A>G (p.Thr319Ala) c.943A>G (p.Thr315Ala) c.736A>G (p.Thr246Ala) c.640A>G (p.Thr214Ala) c.520A>G (p.Thr174Ala) c.130A>G (p.Thr44Ala) | |
5 | g.139379768T>G | CA361139764 | SLC23A1 | c.835A>C (p.Thr279Pro) c.847A>C (p.Thr283Pro) c.164+188A>C n.446A>C c.955A>C (p.Thr319Pro) c.943A>C (p.Thr315Pro) c.736A>C (p.Thr246Pro) c.640A>C (p.Thr214Pro) c.520A>C (p.Thr174Pro) c.130A>C (p.Thr44Pro) | |
5 | g.139379769G>A | CA446794005 | SLC23A1 | c.834C>T (p.Pro278=) c.846C>T (p.Pro282=) c.164+187C>T n.445C>T c.954C>T (p.Pro318=) c.942C>T (p.Pro314=) c.735C>T (p.Pro245=) c.639C>T (p.Pro213=) c.519C>T (p.Pro173=) c.129C>T (p.Pro43=) | |
5 | g.139379769G>C | CA446794006 | SLC23A1 | c.834C>G (p.Pro278=) c.846C>G (p.Pro282=) c.164+187C>G n.445C>G c.954C>G (p.Pro318=) c.942C>G (p.Pro314=) c.735C>G (p.Pro245=) c.639C>G (p.Pro213=) c.519C>G (p.Pro173=) c.129C>G (p.Pro43=) | |
5 | g.139379769G>T | CA446794007 | SLC23A1 | c.834C>A (p.Pro278=) c.846C>A (p.Pro282=) c.164+187C>A n.445C>A c.954C>A (p.Pro318=) c.942C>A (p.Pro314=) c.735C>A (p.Pro245=) c.639C>A (p.Pro213=) c.519C>A (p.Pro173=) c.129C>A (p.Pro43=) | |
5 | g.139379770G>A | CA361139769 | SLC23A1 | c.833C>T (p.Pro278Leu) c.845C>T (p.Pro282Leu) c.164+186C>T n.444C>T c.953C>T (p.Pro318Leu) c.941C>T (p.Pro314Leu) c.734C>T (p.Pro245Leu) c.638C>T (p.Pro213Leu) c.518C>T (p.Pro173Leu) c.128C>T (p.Pro43Leu) | COSMIC |
5 | g.139379770G>C | CA361139771 | SLC23A1 | c.833C>G (p.Pro278Arg) c.845C>G (p.Pro282Arg) c.164+186C>G n.444C>G c.953C>G (p.Pro318Arg) c.941C>G (p.Pro314Arg) c.734C>G (p.Pro245Arg) c.638C>G (p.Pro213Arg) c.518C>G (p.Pro173Arg) c.128C>G (p.Pro43Arg) | |
5 | g.139379770G>T | CA361139773 | SLC23A1 | c.833C>A (p.Pro278His) c.845C>A (p.Pro282His) c.164+186C>A n.444C>A c.953C>A (p.Pro318His) c.941C>A (p.Pro314His) c.734C>A (p.Pro245His) c.638C>A (p.Pro213His) c.518C>A (p.Pro173His) c.128C>A (p.Pro43His) | COSMIC |
5 | g.139379771G>A | CA361139777 | SLC23A1 | c.832C>T (p.Pro278Ser) c.844C>T (p.Pro282Ser) c.164+185C>T n.443C>T c.952C>T (p.Pro318Ser) c.940C>T (p.Pro314Ser) c.733C>T (p.Pro245Ser) c.637C>T (p.Pro213Ser) c.517C>T (p.Pro173Ser) c.127C>T (p.Pro43Ser) | |
5 | g.139379771G>C | CA361139779 | SLC23A1 | c.832C>G (p.Pro278Ala) c.844C>G (p.Pro282Ala) c.164+185C>G n.443C>G c.952C>G (p.Pro318Ala) c.940C>G (p.Pro314Ala) c.733C>G (p.Pro245Ala) c.637C>G (p.Pro213Ala) c.517C>G (p.Pro173Ala) c.127C>G (p.Pro43Ala) | |
5 | g.139379771G>T | CA361139781 | SLC23A1 | c.832C>A (p.Pro278Thr) c.844C>A (p.Pro282Thr) c.164+185C>A n.443C>A c.952C>A (p.Pro318Thr) c.940C>A (p.Pro314Thr) c.733C>A (p.Pro245Thr) c.637C>A (p.Pro213Thr) c.517C>A (p.Pro173Thr) c.127C>A (p.Pro43Thr) | |
5 | g.139379772C>A | CA446794012 | SLC23A1 | c.831G>T (p.Leu277=) c.843G>T (p.Leu281=) c.164+184G>T n.442G>T c.951G>T (p.Leu317=) c.939G>T (p.Leu313=) c.732G>T (p.Leu244=) c.636G>T (p.Leu212=) c.516G>T (p.Leu172=) c.126G>T (p.Leu42=) | |
5 | g.139379772C= | CA1586303729 | SLC23A1 | c.831G= (p.Leu277=) c.843G= (p.Leu281=) c.164+184G= n.442G= c.951G= (p.Leu317=) c.939G= (p.Leu313=) c.732G= (p.Leu244=) c.636G= (p.Leu212=) c.516G= (p.Leu172=) c.126G= (p.Leu42=) | |
5 | g.139379772C>G | CA446794013 | SLC23A1 | c.831G>C (p.Leu277=) c.843G>C (p.Leu281=) c.164+184G>C n.442G>C c.951G>C (p.Leu317=) c.939G>C (p.Leu313=) c.732G>C (p.Leu244=) c.636G>C (p.Leu212=) c.516G>C (p.Leu172=) c.126G>C (p.Leu42=) | |
5 | g.139379772C>T | CA128242452 | SLC23A1 | c.831G>A (p.Leu277=) c.843G>A (p.Leu281=) c.164+184G>A n.442G>A c.951G>A (p.Leu317=) c.939G>A (p.Leu313=) c.732G>A (p.Leu244=) c.636G>A (p.Leu212=) c.516G>A (p.Leu172=) c.126G>A (p.Leu42=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.139379773A>C | CA361139787 | SLC23A1 | c.830T>G (p.Leu277Arg) c.842T>G (p.Leu281Arg) c.164+183T>G n.441T>G c.950T>G (p.Leu317Arg) c.938T>G (p.Leu313Arg) c.731T>G (p.Leu244Arg) c.635T>G (p.Leu212Arg) c.515T>G (p.Leu172Arg) c.125T>G (p.Leu42Arg) | |
5 | g.139379773A>G | CA361139789 | SLC23A1 | c.830T>C (p.Leu277Pro) c.842T>C (p.Leu281Pro) c.164+183T>C n.441T>C c.950T>C (p.Leu317Pro) c.938T>C (p.Leu313Pro) c.731T>C (p.Leu244Pro) c.635T>C (p.Leu212Pro) c.515T>C (p.Leu172Pro) c.125T>C (p.Leu42Pro) | |
5 | g.139379773A>T | CA361139791 | SLC23A1 | c.830T>A (p.Leu277Gln) c.842T>A (p.Leu281Gln) c.164+183T>A n.441T>A c.950T>A (p.Leu317Gln) c.938T>A (p.Leu313Gln) c.731T>A (p.Leu244Gln) c.635T>A (p.Leu212Gln) c.515T>A (p.Leu172Gln) c.125T>A (p.Leu42Gln) | |
5 | g.139379774G>A | CA446794014 | SLC23A1 | c.829C>T (p.Leu277=) c.841C>T (p.Leu281=) c.164+182C>T n.440C>T c.949C>T (p.Leu317=) c.937C>T (p.Leu313=) c.730C>T (p.Leu244=) c.634C>T (p.Leu212=) c.514C>T (p.Leu172=) c.124C>T (p.Leu42=) | |
5 | g.139379774G>C | CA361139793 | SLC23A1 | c.829C>G (p.Leu277Val) c.841C>G (p.Leu281Val) c.164+182C>G n.440C>G c.949C>G (p.Leu317Val) c.937C>G (p.Leu313Val) c.730C>G (p.Leu244Val) c.634C>G (p.Leu212Val) c.514C>G (p.Leu172Val) c.124C>G (p.Leu42Val) | |
5 | g.139379774G>T | CA361139795 | SLC23A1 | c.829C>A (p.Leu277Met) c.841C>A (p.Leu281Met) c.164+182C>A n.440C>A c.949C>A (p.Leu317Met) c.937C>A (p.Leu313Met) c.730C>A (p.Leu244Met) c.634C>A (p.Leu212Met) c.514C>A (p.Leu172Met) c.124C>A (p.Leu42Met) | |
5 | g.139379775C>A | CA446794017 | SLC23A1 | c.828G>T (p.Val276=) c.840G>T (p.Val280=) c.164+181G>T n.439G>T c.948G>T (p.Val316=) c.936G>T (p.Val312=) c.729G>T (p.Val243=) c.633G>T (p.Val211=) c.513G>T (p.Val171=) c.123G>T (p.Val41=) | |
5 | g.139379775C>G | CA446794018 | SLC23A1 | c.828G>C (p.Val276=) c.840G>C (p.Val280=) c.164+181G>C n.439G>C c.948G>C (p.Val316=) c.936G>C (p.Val312=) c.729G>C (p.Val243=) c.633G>C (p.Val211=) c.513G>C (p.Val171=) c.123G>C (p.Val41=) | |
5 | g.139379775C>T | CA446794019 | SLC23A1 | c.828G>A (p.Val276=) c.840G>A (p.Val280=) c.164+181G>A n.439G>A c.948G>A (p.Val316=) c.936G>A (p.Val312=) c.729G>A (p.Val243=) c.633G>A (p.Val211=) c.513G>A (p.Val171=) c.123G>A (p.Val41=) | |
5 | g.139379776A>C | CA361139799 | SLC23A1 | c.827T>G (p.Val276Gly) c.839T>G (p.Val280Gly) c.164+180T>G n.438T>G c.947T>G (p.Val316Gly) c.935T>G (p.Val312Gly) c.728T>G (p.Val243Gly) c.632T>G (p.Val211Gly) c.512T>G (p.Val171Gly) c.122T>G (p.Val41Gly) | |
5 | g.139379776A>G | CA361139801 | SLC23A1 | c.827T>C (p.Val276Ala) c.839T>C (p.Val280Ala) c.164+180T>C n.438T>C c.947T>C (p.Val316Ala) c.935T>C (p.Val312Ala) c.728T>C (p.Val243Ala) c.632T>C (p.Val211Ala) c.512T>C (p.Val171Ala) c.122T>C (p.Val41Ala) | |
5 | g.139379776A>T | CA361139798 | SLC23A1 | c.827T>A (p.Val276Glu) c.839T>A (p.Val280Glu) c.164+180T>A n.438T>A c.947T>A (p.Val316Glu) c.935T>A (p.Val312Glu) c.728T>A (p.Val243Glu) c.632T>A (p.Val211Glu) c.512T>A (p.Val171Glu) c.122T>A (p.Val41Glu) | |
5 | g.139379777C>A | CA361139806 | SLC23A1 | c.826G>T (p.Val276Leu) c.838G>T (p.Val280Leu) c.164+179G>T n.437G>T c.946G>T (p.Val316Leu) c.934G>T (p.Val312Leu) c.727G>T (p.Val243Leu) c.631G>T (p.Val211Leu) c.511G>T (p.Val171Leu) c.121G>T (p.Val41Leu) | |
5 | g.139379777C= | CA1586303731 | SLC23A1 | c.826G= (p.Val276=) c.838G= (p.Val280=) c.164+179G= n.437G= c.946G= (p.Val316=) c.934G= (p.Val312=) c.727G= (p.Val243=) c.631G= (p.Val211=) c.511G= (p.Val171=) c.121G= (p.Val41=) | |
5 | g.139379777C>G | CA361139803 | SLC23A1 | c.826G>C (p.Val276Leu) c.838G>C (p.Val280Leu) c.164+179G>C n.437G>C c.946G>C (p.Val316Leu) c.934G>C (p.Val312Leu) c.727G>C (p.Val243Leu) c.631G>C (p.Val211Leu) c.511G>C (p.Val171Leu) c.121G>C (p.Val41Leu) | |
5 | g.139379777C>T | CA3434037 | SLC23A1 | c.826G>A (p.Val276Met) c.838G>A (p.Val280Met) c.164+179G>A n.437G>A c.946G>A (p.Val316Met) c.934G>A (p.Val312Met) c.727G>A (p.Val243Met) c.631G>A (p.Val211Met) c.511G>A (p.Val171Met) c.121G>A (p.Val41Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.139379777_139379778insCCCTTG | CA2554083802 | SLC23A1 | c.825_826insCAAGGG (p.Asp275_Val276insGlnGly) c.837_838insCAAGGG (p.Asp279_Val280insGlnGly) c.164+178_164+179insCAAGGG n.436_437insCAAGGG c.945_946insCAAGGG (p.Asp315_Val316insGlnGly) c.933_934insCAAGGG (p.Asp311_Val312insGlnGly) c.726_727insCAAGGG (p.Asp242_Val243insGlnGly) c.630_631insCAAGGG (p.Asp210_Val211insGlnGly) c.510_511insCAAGGG (p.Asp170_Val171insGlnGly) c.120_121insCAAGGG (p.Asp40_Val41insGlnGly) | |
5 | g.139379778G>A | CA3434038 | SLC23A1 | c.825C>T (p.Asp275=) c.837C>T (p.Asp279=) c.164+178C>T n.436C>T c.945C>T (p.Asp315=) c.933C>T (p.Asp311=) c.726C>T (p.Asp242=) c.630C>T (p.Asp210=) c.510C>T (p.Asp170=) c.120C>T (p.Asp40=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.139379778G>C | CA361139813 | SLC23A1 | c.825C>G (p.Asp275Glu) c.837C>G (p.Asp279Glu) c.164+178C>G n.436C>G c.945C>G (p.Asp315Glu) c.933C>G (p.Asp311Glu) c.726C>G (p.Asp242Glu) c.630C>G (p.Asp210Glu) c.510C>G (p.Asp170Glu) c.120C>G (p.Asp40Glu) | |
5 | g.139379778G= | CA1586303735 | SLC23A1 | c.825C= (p.Asp275=) c.837C= (p.Asp279=) c.164+178C= n.436C= c.945C= (p.Asp315=) c.933C= (p.Asp311=) c.726C= (p.Asp242=) c.630C= (p.Asp210=) c.510C= (p.Asp170=) c.120C= (p.Asp40=) | |
5 | g.139379778G>T | CA361139811 | SLC23A1 | c.825C>A (p.Asp275Glu) c.837C>A (p.Asp279Glu) c.164+178C>A n.436C>A c.945C>A (p.Asp315Glu) c.933C>A (p.Asp311Glu) c.726C>A (p.Asp242Glu) c.630C>A (p.Asp210Glu) c.510C>A (p.Asp170Glu) c.120C>A (p.Asp40Glu) | |
5 | g.139379779T>A | CA361139815 | SLC23A1 | c.824A>T (p.Asp275Val) c.836A>T (p.Asp279Val) c.164+177A>T n.435A>T c.944A>T (p.Asp315Val) c.932A>T (p.Asp311Val) c.725A>T (p.Asp242Val) c.629A>T (p.Asp210Val) c.509A>T (p.Asp170Val) c.119A>T (p.Asp40Val) | gnomAD v4 |
5 | g.139379779T>C | CA361139816 | SLC23A1 | c.824A>G (p.Asp275Gly) c.836A>G (p.Asp279Gly) c.164+177A>G n.435A>G c.944A>G (p.Asp315Gly) c.932A>G (p.Asp311Gly) c.725A>G (p.Asp242Gly) c.629A>G (p.Asp210Gly) c.509A>G (p.Asp170Gly) c.119A>G (p.Asp40Gly) | gnomAD v4 |
5 | g.139379779T>G | CA361139817 | SLC23A1 | c.824A>C (p.Asp275Ala) c.836A>C (p.Asp279Ala) c.164+177A>C n.435A>C c.944A>C (p.Asp315Ala) c.932A>C (p.Asp311Ala) c.725A>C (p.Asp242Ala) c.629A>C (p.Asp210Ala) c.509A>C (p.Asp170Ala) c.119A>C (p.Asp40Ala) | |
5 | g.139379780C>A | CA361139818 | SLC23A1 | c.823G>T (p.Asp275Tyr) c.835G>T (p.Asp279Tyr) c.164+176G>T n.434G>T c.943G>T (p.Asp315Tyr) c.931G>T (p.Asp311Tyr) c.724G>T (p.Asp242Tyr) c.628G>T (p.Asp210Tyr) c.508G>T (p.Asp170Tyr) c.118G>T (p.Asp40Tyr) | |
5 | g.139379780C>G | CA361139819 | SLC23A1 | c.823G>C (p.Asp275His) c.835G>C (p.Asp279His) c.164+176G>C n.434G>C c.943G>C (p.Asp315His) c.931G>C (p.Asp311His) c.724G>C (p.Asp242His) c.628G>C (p.Asp210His) c.508G>C (p.Asp170His) c.118G>C (p.Asp40His) | |
5 | g.139379780C>T | CA361139820 | SLC23A1 | c.823G>A (p.Asp275Asn) c.835G>A (p.Asp279Asn) c.164+176G>A n.434G>A c.943G>A (p.Asp315Asn) c.931G>A (p.Asp311Asn) c.724G>A (p.Asp242Asn) c.628G>A (p.Asp210Asn) c.508G>A (p.Asp170Asn) c.118G>A (p.Asp40Asn) | |
5 | g.139379781T>A | CA446794024 | SLC23A1 | c.822A>T (p.Thr274=) c.834A>T (p.Thr278=) c.164+175A>T n.433A>T c.942A>T (p.Thr314=) c.930A>T (p.Thr310=) c.723A>T (p.Thr241=) c.627A>T (p.Thr209=) c.507A>T (p.Thr169=) c.117A>T (p.Thr39=) | |
5 | g.139379781T>C | CA446794025 | SLC23A1 | c.822A>G (p.Thr274=) c.834A>G (p.Thr278=) c.164+175A>G n.433A>G c.942A>G (p.Thr314=) c.930A>G (p.Thr310=) c.723A>G (p.Thr241=) c.627A>G (p.Thr209=) c.507A>G (p.Thr169=) c.117A>G (p.Thr39=) | |
5 | g.139379781T>G | CA446794026 | SLC23A1 | c.822A>C (p.Thr274=) c.834A>C (p.Thr278=) c.164+175A>C n.433A>C c.942A>C (p.Thr314=) c.930A>C (p.Thr310=) c.723A>C (p.Thr241=) c.627A>C (p.Thr209=) c.507A>C (p.Thr169=) c.117A>C (p.Thr39=) | |
5 | g.139379782G>A | CA361139821 | SLC23A1 | c.821C>T (p.Thr274Ile) c.833C>T (p.Thr278Ile) c.164+174C>T n.432C>T c.941C>T (p.Thr314Ile) c.929C>T (p.Thr310Ile) c.722C>T (p.Thr241Ile) c.626C>T (p.Thr209Ile) c.506C>T (p.Thr169Ile) c.116C>T (p.Thr39Ile) | |
5 | g.139379782G>C | CA361139823 | SLC23A1 | c.821C>G (p.Thr274Arg) c.833C>G (p.Thr278Arg) c.164+174C>G n.432C>G c.941C>G (p.Thr314Arg) c.929C>G (p.Thr310Arg) c.722C>G (p.Thr241Arg) c.626C>G (p.Thr209Arg) c.506C>G (p.Thr169Arg) c.116C>G (p.Thr39Arg) | |
5 | g.139379782G>T | CA361139825 | SLC23A1 | c.821C>A (p.Thr274Lys) c.833C>A (p.Thr278Lys) c.164+174C>A n.432C>A c.941C>A (p.Thr314Lys) c.929C>A (p.Thr310Lys) c.722C>A (p.Thr241Lys) c.626C>A (p.Thr209Lys) c.506C>A (p.Thr169Lys) c.116C>A (p.Thr39Lys) | |
5 | g.139379783T>A | CA361139828 | SLC23A1 | c.820A>T (p.Thr274Ser) c.832A>T (p.Thr278Ser) c.164+173A>T n.431A>T c.940A>T (p.Thr314Ser) c.928A>T (p.Thr310Ser) c.721A>T (p.Thr241Ser) c.625A>T (p.Thr209Ser) c.505A>T (p.Thr169Ser) c.115A>T (p.Thr39Ser) | |
5 | g.139379783T>C | CA361139830 | SLC23A1 | c.820A>G (p.Thr274Ala) c.832A>G (p.Thr278Ala) c.164+173A>G n.431A>G c.940A>G (p.Thr314Ala) c.928A>G (p.Thr310Ala) c.721A>G (p.Thr241Ala) c.625A>G (p.Thr209Ala) c.505A>G (p.Thr169Ala) c.115A>G (p.Thr39Ala) | |
5 | g.139379783T>G | CA361139832 | SLC23A1 | c.820A>C (p.Thr274Pro) c.832A>C (p.Thr278Pro) c.164+173A>C n.431A>C c.940A>C (p.Thr314Pro) c.928A>C (p.Thr310Pro) c.721A>C (p.Thr241Pro) c.625A>C (p.Thr209Pro) c.505A>C (p.Thr169Pro) c.115A>C (p.Thr39Pro) | |
5 | g.139379784C>A | CA361139835 | SLC23A1 | c.819G>T (p.Leu273Phe) c.831G>T (p.Leu277Phe) c.164+172G>T n.430G>T c.939G>T (p.Leu313Phe) c.927G>T (p.Leu309Phe) c.720G>T (p.Leu240Phe) c.624G>T (p.Leu208Phe) c.504G>T (p.Leu168Phe) c.114G>T (p.Leu38Phe) | |
5 | g.139379784C= | CA1586303737 | SLC23A1 | c.819G= (p.Leu273=) c.831G= (p.Leu277=) c.164+172G= n.430G= c.939G= (p.Leu313=) c.927G= (p.Leu309=) c.720G= (p.Leu240=) c.624G= (p.Leu208=) c.504G= (p.Leu168=) c.114G= (p.Leu38=) | |
5 | g.139379784C>G | CA361139837 | SLC23A1 | c.819G>C (p.Leu273Phe) c.831G>C (p.Leu277Phe) c.164+172G>C n.430G>C c.939G>C (p.Leu313Phe) c.927G>C (p.Leu309Phe) c.720G>C (p.Leu240Phe) c.624G>C (p.Leu208Phe) c.504G>C (p.Leu168Phe) c.114G>C (p.Leu38Phe) | |
5 | g.139379784C>T | CA446794027 | SLC23A1 | c.819G>A (p.Leu273=) c.831G>A (p.Leu277=) c.164+172G>A n.430G>A c.939G>A (p.Leu313=) c.927G>A (p.Leu309=) c.720G>A (p.Leu240=) c.624G>A (p.Leu208=) c.504G>A (p.Leu168=) c.114G>A (p.Leu38=) | dbSNP gnomAD v4 |
5 | g.139379785A>C | CA361139840 | SLC23A1 | c.818T>G (p.Leu273Trp) c.830T>G (p.Leu277Trp) c.164+171T>G n.429T>G c.938T>G (p.Leu313Trp) c.926T>G (p.Leu309Trp) c.719T>G (p.Leu240Trp) c.623T>G (p.Leu208Trp) c.503T>G (p.Leu168Trp) c.113T>G (p.Leu38Trp) | |
5 | g.139379785A>G | CA361139842 | SLC23A1 | c.818T>C (p.Leu273Ser) c.830T>C (p.Leu277Ser) c.164+171T>C n.429T>C c.938T>C (p.Leu313Ser) c.926T>C (p.Leu309Ser) c.719T>C (p.Leu240Ser) c.623T>C (p.Leu208Ser) c.503T>C (p.Leu168Ser) c.113T>C (p.Leu38Ser) | |
5 | g.139379785A>T | CA361139845 | SLC23A1 | c.818T>A (p.Leu273Ter) c.830T>A (p.Leu277Ter) c.164+171T>A n.429T>A c.938T>A (p.Leu313Ter) c.926T>A (p.Leu309Ter) c.719T>A (p.Leu240Ter) c.623T>A (p.Leu208Ter) c.503T>A (p.Leu168Ter) c.113T>A (p.Leu38Ter) | |
5 | g.139379786A>C | CA361139846 | SLC23A1 | c.817T>G (p.Leu273Val) c.829T>G (p.Leu277Val) c.164+170T>G n.428T>G c.937T>G (p.Leu313Val) c.925T>G (p.Leu309Val) c.718T>G (p.Leu240Val) c.622T>G (p.Leu208Val) c.502T>G (p.Leu168Val) c.112T>G (p.Leu38Val) | |
5 | g.139379786A>G | CA446794028 | SLC23A1 | c.817T>C (p.Leu273=) c.829T>C (p.Leu277=) c.164+170T>C n.428T>C c.937T>C (p.Leu313=) c.925T>C (p.Leu309=) c.718T>C (p.Leu240=) c.622T>C (p.Leu208=) c.502T>C (p.Leu168=) c.112T>C (p.Leu38=) | |
5 | g.139379786A>T | CA361139847 | SLC23A1 | c.817T>A (p.Leu273Met) c.829T>A (p.Leu277Met) c.164+170T>A n.428T>A c.937T>A (p.Leu313Met) c.925T>A (p.Leu309Met) c.718T>A (p.Leu240Met) c.622T>A (p.Leu208Met) c.502T>A (p.Leu168Met) c.112T>A (p.Leu38Met) | |
5 | g.139379787G>A | CA3434040 | SLC23A1 | c.816C>T (p.Thr272=) c.828C>T (p.Thr276=) c.164+169C>T n.427C>T c.936C>T (p.Thr312=) c.924C>T (p.Thr308=) c.717C>T (p.Thr239=) c.621C>T (p.Thr207=) c.501C>T (p.Thr167=) c.111C>T (p.Thr37=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.139379787G>C | CA446794029 | SLC23A1 | c.816C>G (p.Thr272=) c.828C>G (p.Thr276=) c.164+169C>G n.427C>G c.936C>G (p.Thr312=) c.924C>G (p.Thr308=) c.717C>G (p.Thr239=) c.621C>G (p.Thr207=) c.501C>G (p.Thr167=) c.111C>G (p.Thr37=) | |
5 | g.139379787G= | CA1586303741 | SLC23A1 | c.816C= (p.Thr272=) c.828C= (p.Thr276=) c.164+169C= n.427C= c.936C= (p.Thr312=) c.924C= (p.Thr308=) c.717C= (p.Thr239=) c.621C= (p.Thr207=) c.501C= (p.Thr167=) c.111C= (p.Thr37=) | |
5 | g.139379787G>T | CA3434039 | SLC23A1 | c.816C>A (p.Thr272=) c.828C>A (p.Thr276=) c.164+169C>A n.427C>A c.936C>A (p.Thr312=) c.924C>A (p.Thr308=) c.717C>A (p.Thr239=) c.621C>A (p.Thr207=) c.501C>A (p.Thr167=) c.111C>A (p.Thr37=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.139379788G>A | CA361139849 | SLC23A1 | c.815C>T (p.Thr272Ile) c.827C>T (p.Thr276Ile) c.164+168C>T n.426C>T c.935C>T (p.Thr312Ile) c.923C>T (p.Thr308Ile) c.716C>T (p.Thr239Ile) c.620C>T (p.Thr207Ile) c.500C>T (p.Thr167Ile) c.110C>T (p.Thr37Ile) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.139379788G>C | CA361139851 | SLC23A1 | c.815C>G (p.Thr272Ser) c.827C>G (p.Thr276Ser) c.164+168C>G n.426C>G c.935C>G (p.Thr312Ser) c.923C>G (p.Thr308Ser) c.716C>G (p.Thr239Ser) c.620C>G (p.Thr207Ser) c.500C>G (p.Thr167Ser) c.110C>G (p.Thr37Ser) | |
5 | g.139379788G= | CA1586303744 | SLC23A1 | c.815C= (p.Thr272=) c.827C= (p.Thr276=) c.164+168C= n.426C= c.935C= (p.Thr312=) c.923C= (p.Thr308=) c.716C= (p.Thr239=) c.620C= (p.Thr207=) c.500C= (p.Thr167=) c.110C= (p.Thr37=) | |
5 | g.139379788G>T | CA361139853 | SLC23A1 | c.815C>A (p.Thr272Asn) c.827C>A (p.Thr276Asn) c.164+168C>A n.426C>A c.935C>A (p.Thr312Asn) c.923C>A (p.Thr308Asn) c.716C>A (p.Thr239Asn) c.620C>A (p.Thr207Asn) c.500C>A (p.Thr167Asn) c.110C>A (p.Thr37Asn) | |
5 | g.139379789T>A | CA361139856 | SLC23A1 | c.814A>T (p.Thr272Ser) c.826A>T (p.Thr276Ser) c.164+167A>T n.425A>T c.934A>T (p.Thr312Ser) c.922A>T (p.Thr308Ser) c.715A>T (p.Thr239Ser) c.619A>T (p.Thr207Ser) c.499A>T (p.Thr167Ser) c.109A>T (p.Thr37Ser) | |
5 | g.139379789T>C | CA361139858 | SLC23A1 | c.814A>G (p.Thr272Ala) c.826A>G (p.Thr276Ala) c.164+167A>G n.425A>G c.934A>G (p.Thr312Ala) c.922A>G (p.Thr308Ala) c.715A>G (p.Thr239Ala) c.619A>G (p.Thr207Ala) c.499A>G (p.Thr167Ala) c.109A>G (p.Thr37Ala) | dbSNP |
5 | g.139379789T>G | CA361139854 | SLC23A1 | c.814A>C (p.Thr272Pro) c.826A>C (p.Thr276Pro) c.164+167A>C n.425A>C c.934A>C (p.Thr312Pro) c.922A>C (p.Thr308Pro) c.715A>C (p.Thr239Pro) c.619A>C (p.Thr207Pro) c.499A>C (p.Thr167Pro) c.109A>C (p.Thr37Pro) | |
5 | g.139379789T= | CA1586303746 | SLC23A1 | c.814A= (p.Thr272=) c.826A= (p.Thr276=) c.164+167A= n.425A= c.934A= (p.Thr312=) c.922A= (p.Thr308=) c.715A= (p.Thr239=) c.619A= (p.Thr207=) c.499A= (p.Thr167=) c.109A= (p.Thr37=) | |
5 | g.139379790C>A | CA446794030 | SLC23A1 | c.813G>T (p.Leu271=) c.825G>T (p.Leu275=) c.164+166G>T n.424G>T c.933G>T (p.Leu311=) c.921G>T (p.Leu307=) c.714G>T (p.Leu238=) c.618G>T (p.Leu206=) c.498G>T (p.Leu166=) c.108G>T (p.Leu36=) | |
5 | g.139379790C= | CA1586303749 | SLC23A1 | c.813G= (p.Leu271=) c.825G= (p.Leu275=) c.164+166G= n.424G= c.933G= (p.Leu311=) c.921G= (p.Leu307=) c.714G= (p.Leu238=) c.618G= (p.Leu206=) c.498G= (p.Leu166=) c.108G= (p.Leu36=) | |
5 | g.139379790C>G | CA446794031 | SLC23A1 | c.813G>C (p.Leu271=) c.825G>C (p.Leu275=) c.164+166G>C n.424G>C c.933G>C (p.Leu311=) c.921G>C (p.Leu307=) c.714G>C (p.Leu238=) c.618G>C (p.Leu206=) c.498G>C (p.Leu166=) c.108G>C (p.Leu36=) | |
5 | g.139379790C>T | CA446794032 | SLC23A1 | c.813G>A (p.Leu271=) c.825G>A (p.Leu275=) c.164+166G>A n.424G>A c.933G>A (p.Leu311=) c.921G>A (p.Leu307=) c.714G>A (p.Leu238=) c.618G>A (p.Leu206=) c.498G>A (p.Leu166=) c.108G>A (p.Leu36=) | |
5 | g.139379791A>C | CA361139861 | SLC23A1 | c.812T>G (p.Leu271Arg) c.824T>G (p.Leu275Arg) c.164+165T>G n.423T>G c.932T>G (p.Leu311Arg) c.920T>G (p.Leu307Arg) c.713T>G (p.Leu238Arg) c.617T>G (p.Leu206Arg) c.497T>G (p.Leu166Arg) c.107T>G (p.Leu36Arg) | |
5 | g.139379791A>G | CA361139865 | SLC23A1 | c.812T>C (p.Leu271Pro) c.824T>C (p.Leu275Pro) c.164+165T>C n.423T>C c.932T>C (p.Leu311Pro) c.920T>C (p.Leu307Pro) c.713T>C (p.Leu238Pro) c.617T>C (p.Leu206Pro) c.497T>C (p.Leu166Pro) c.107T>C (p.Leu36Pro) | |
5 | g.139379791A>T | CA361139867 | SLC23A1 | c.812T>A (p.Leu271Gln) c.824T>A (p.Leu275Gln) c.164+165T>A n.423T>A c.932T>A (p.Leu311Gln) c.920T>A (p.Leu307Gln) c.713T>A (p.Leu238Gln) c.617T>A (p.Leu206Gln) c.497T>A (p.Leu166Gln) c.107T>A (p.Leu36Gln) | |
5 | g.139379791_139379796dup | CA563498510 | SLC23A1 | c.807_812dup (p.Leu271_Thr272insValLeu) c.819_824dup (p.Leu275_Thr276insValLeu) c.164+160_164+165dup n.418_423dup c.927_932dup (p.Leu311_Thr312insValLeu) c.915_920dup (p.Leu307_Thr308insValLeu) c.708_713dup (p.Leu238_Thr239insValLeu) c.612_617dup (p.Leu206_Thr207insValLeu) c.492_497dup (p.Leu166_Thr167insValLeu) c.102_107dup (p.Leu36_Thr37insValLeu) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.139379792G>A | CA446794033 | SLC23A1 | c.811C>T (p.Leu271=) c.823C>T (p.Leu275=) c.164+164C>T n.422C>T c.931C>T (p.Leu311=) c.919C>T (p.Leu307=) c.712C>T (p.Leu238=) c.616C>T (p.Leu206=) c.496C>T (p.Leu166=) c.106C>T (p.Leu36=) | |
5 | g.139379792G>C | CA361139869 | SLC23A1 | c.811C>G (p.Leu271Val) c.823C>G (p.Leu275Val) c.164+164C>G n.422C>G c.931C>G (p.Leu311Val) c.919C>G (p.Leu307Val) c.712C>G (p.Leu238Val) c.616C>G (p.Leu206Val) c.496C>G (p.Leu166Val) c.106C>G (p.Leu36Val) | |
5 | g.139379792G>T | CA361139871 | SLC23A1 | c.811C>A (p.Leu271Met) c.823C>A (p.Leu275Met) c.164+164C>A n.422C>A c.931C>A (p.Leu311Met) c.919C>A (p.Leu307Met) c.712C>A (p.Leu238Met) c.616C>A (p.Leu206Met) c.496C>A (p.Leu166Met) c.106C>A (p.Leu36Met) | |
5 | g.139379793G>A | CA446794034 | SLC23A1 | c.810C>T (p.Val270=) c.822C>T (p.Val274=) c.164+163C>T n.421C>T c.930C>T (p.Val310=) c.918C>T (p.Val306=) c.711C>T (p.Val237=) c.615C>T (p.Val205=) c.495C>T (p.Val165=) c.105C>T (p.Val35=) | |
5 | g.139379793G>C | CA446794035 | SLC23A1 | c.810C>G (p.Val270=) c.822C>G (p.Val274=) c.164+163C>G n.421C>G c.930C>G (p.Val310=) c.918C>G (p.Val306=) c.711C>G (p.Val237=) c.615C>G (p.Val205=) c.495C>G (p.Val165=) c.105C>G (p.Val35=) | |
5 | g.139379793G>T | CA446794036 | SLC23A1 | c.810C>A (p.Val270=) c.822C>A (p.Val274=) c.164+163C>A n.421C>A c.930C>A (p.Val310=) c.918C>A (p.Val306=) c.711C>A (p.Val237=) c.615C>A (p.Val205=) c.495C>A (p.Val165=) c.105C>A (p.Val35=) | |
5 | g.139379794A>C | CA361139878 | SLC23A1 | c.809T>G (p.Val270Gly) c.821T>G (p.Val274Gly) c.164+162T>G n.420T>G c.929T>G (p.Val310Gly) c.917T>G (p.Val306Gly) c.710T>G (p.Val237Gly) c.614T>G (p.Val205Gly) c.494T>G (p.Val165Gly) c.104T>G (p.Val35Gly) | |
5 | g.139379794A>G | CA361139880 | SLC23A1 | c.809T>C (p.Val270Ala) c.821T>C (p.Val274Ala) c.164+162T>C n.420T>C c.929T>C (p.Val310Ala) c.917T>C (p.Val306Ala) c.710T>C (p.Val237Ala) c.614T>C (p.Val205Ala) c.494T>C (p.Val165Ala) c.104T>C (p.Val35Ala) | |
5 | g.139379794A>T | CA361139882 | SLC23A1 | c.809T>A (p.Val270Asp) c.821T>A (p.Val274Asp) c.164+162T>A n.420T>A c.929T>A (p.Val310Asp) c.917T>A (p.Val306Asp) c.710T>A (p.Val237Asp) c.614T>A (p.Val205Asp) c.494T>A (p.Val165Asp) c.104T>A (p.Val35Asp) | |
5 | g.139379795C>A | CA361139887 | SLC23A1 | c.808G>T (p.Val270Phe) c.820G>T (p.Val274Phe) c.164+161G>T n.419G>T c.928G>T (p.Val310Phe) c.916G>T (p.Val306Phe) c.709G>T (p.Val237Phe) c.613G>T (p.Val205Phe) c.493G>T (p.Val165Phe) c.103G>T (p.Val35Phe) | dbSNP gnomAD v4 |
5 | g.139379795C= | CA1586303754 | SLC23A1 | c.808G= (p.Val270=) c.820G= (p.Val274=) c.164+161G= n.419G= c.928G= (p.Val310=) c.916G= (p.Val306=) c.709G= (p.Val237=) c.613G= (p.Val205=) c.493G= (p.Val165=) c.103G= (p.Val35=) | |
5 | g.139379795C>G | CA361139889 | SLC23A1 | c.808G>C (p.Val270Leu) c.820G>C (p.Val274Leu) c.164+161G>C n.419G>C c.928G>C (p.Val310Leu) c.916G>C (p.Val306Leu) c.709G>C (p.Val237Leu) c.613G>C (p.Val205Leu) c.493G>C (p.Val165Leu) c.103G>C (p.Val35Leu) | |
5 | g.139379795C>T | CA361139891 | SLC23A1 | c.808G>A (p.Val270Ile) c.820G>A (p.Val274Ile) c.164+161G>A n.419G>A c.928G>A (p.Val310Ile) c.916G>A (p.Val306Ile) c.709G>A (p.Val237Ile) c.613G>A (p.Val205Ile) c.493G>A (p.Val165Ile) c.103G>A (p.Val35Ile) | |
5 | g.139379796A>C | CA361139894 | SLC23A1 | c.807T>G (p.Tyr269Ter) c.819T>G (p.Tyr273Ter) c.164+160T>G n.418T>G c.927T>G (p.Tyr309Ter) c.915T>G (p.Tyr305Ter) c.708T>G (p.Tyr236Ter) c.612T>G (p.Tyr204Ter) c.492T>G (p.Tyr164Ter) c.102T>G (p.Tyr34Ter) | |
5 | g.139379796A>G | CA446794037 | SLC23A1 | c.807T>C (p.Tyr269=) c.819T>C (p.Tyr273=) c.164+160T>C n.418T>C c.927T>C (p.Tyr309=) c.915T>C (p.Tyr305=) c.708T>C (p.Tyr236=) c.612T>C (p.Tyr204=) c.492T>C (p.Tyr164=) c.102T>C (p.Tyr34=) | |
5 | g.139379796A>T | CA361139896 | SLC23A1 | c.807T>A (p.Tyr269Ter) c.819T>A (p.Tyr273Ter) c.164+160T>A n.418T>A c.927T>A (p.Tyr309Ter) c.915T>A (p.Tyr305Ter) c.708T>A (p.Tyr236Ter) c.612T>A (p.Tyr204Ter) c.492T>A (p.Tyr164Ter) c.102T>A (p.Tyr34Ter) | gnomAD v4 |
5 | g.139379797T>A | CA361139903 | SLC23A1 | c.806A>T (p.Tyr269Phe) c.818A>T (p.Tyr273Phe) c.164+159A>T n.417A>T c.926A>T (p.Tyr309Phe) c.914A>T (p.Tyr305Phe) c.707A>T (p.Tyr236Phe) c.611A>T (p.Tyr204Phe) c.491A>T (p.Tyr164Phe) c.101A>T (p.Tyr34Phe) | |
5 | g.139379797T>C | CA361139901 | SLC23A1 | c.806A>G (p.Tyr269Cys) c.818A>G (p.Tyr273Cys) c.164+159A>G n.417A>G c.926A>G (p.Tyr309Cys) c.914A>G (p.Tyr305Cys) c.707A>G (p.Tyr236Cys) c.611A>G (p.Tyr204Cys) c.491A>G (p.Tyr164Cys) c.101A>G (p.Tyr34Cys) | |
5 | g.139379797T>G | CA361139899 | SLC23A1 | c.806A>C (p.Tyr269Ser) c.818A>C (p.Tyr273Ser) c.164+159A>C n.417A>C c.926A>C (p.Tyr309Ser) c.914A>C (p.Tyr305Ser) c.707A>C (p.Tyr236Ser) c.611A>C (p.Tyr204Ser) c.491A>C (p.Tyr164Ser) c.101A>C (p.Tyr34Ser) | |
5 | g.139379797_139379800delinsTAGC | CA1586303755 | SLC23A1 | c.803_806delinsGCTA (p.Cys268=) c.815_818delinsGCTA (p.Cys272=) c.164+156_164+159delinsGCTA n.414_417delinsGCTA c.923_926delinsGCTA (p.Cys308=) c.911_914delinsGCTA (p.Cys304=) c.704_707delinsGCTA (p.Cys235=) c.608_611delinsGCTA (p.Cys203=) c.488_491delinsGCTA (p.Cys163=) c.98_101delinsGCTA (p.Cys33=) | |
5 | g.139379798A= | CA1586303759 | SLC23A1 | c.805T= (p.Tyr269=) c.817T= (p.Tyr273=) c.164+158T= n.416T= c.925T= (p.Tyr309=) c.913T= (p.Tyr305=) c.706T= (p.Tyr236=) c.610T= (p.Tyr204=) c.490T= (p.Tyr164=) c.100T= (p.Tyr34=) | |
5 | g.139379798A>C | CA361139907 | SLC23A1 | c.805T>G (p.Tyr269Asp) c.817T>G (p.Tyr273Asp) c.164+158T>G n.416T>G c.925T>G (p.Tyr309Asp) c.913T>G (p.Tyr305Asp) c.706T>G (p.Tyr236Asp) c.610T>G (p.Tyr204Asp) c.490T>G (p.Tyr164Asp) c.100T>G (p.Tyr34Asp) | |
5 | g.139379798A>G | CA361139910 | SLC23A1 | c.805T>C (p.Tyr269His) c.817T>C (p.Tyr273His) c.164+158T>C n.416T>C c.925T>C (p.Tyr309His) c.913T>C (p.Tyr305His) c.706T>C (p.Tyr236His) c.610T>C (p.Tyr204His) c.490T>C (p.Tyr164His) c.100T>C (p.Tyr34His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.139379798A>T | CA361139912 | SLC23A1 | c.805T>A (p.Tyr269Asn) c.817T>A (p.Tyr273Asn) c.164+158T>A n.416T>A c.925T>A (p.Tyr309Asn) c.913T>A (p.Tyr305Asn) c.706T>A (p.Tyr236Asn) c.610T>A (p.Tyr204Asn) c.490T>A (p.Tyr164Asn) c.100T>A (p.Tyr34Asn) | |
5 | g.139379800_139379802del | CA1586303758 | SLC23A1 | c.803_805del (p.Cys268del) c.815_817del (p.Cys272del) c.164+156_164+158del n.414_416del c.923_925del (p.Cys308del) c.911_913del (p.Cys304del) c.704_706del (p.Cys235del) c.608_610del (p.Cys203del) c.488_490del (p.Cys163del) c.98_100del (p.Cys33del) | dbSNP |
5 | g.139379799G>A | CA3434041 | SLC23A1 | c.804C>T (p.Cys268=) c.816C>T (p.Cys272=) c.164+157C>T n.415C>T c.924C>T (p.Cys308=) c.912C>T (p.Cys304=) c.705C>T (p.Cys235=) c.609C>T (p.Cys203=) c.489C>T (p.Cys163=) c.99C>T (p.Cys33=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.139379799G>C | CA361139917 | SLC23A1 | c.804C>G (p.Cys268Trp) c.816C>G (p.Cys272Trp) c.164+157C>G n.415C>G c.924C>G (p.Cys308Trp) c.912C>G (p.Cys304Trp) c.705C>G (p.Cys235Trp) c.609C>G (p.Cys203Trp) c.489C>G (p.Cys163Trp) c.99C>G (p.Cys33Trp) | |
5 | g.139379799G= | CA1586303763 | SLC23A1 | c.804C= (p.Cys268=) c.816C= (p.Cys272=) c.164+157C= n.415C= c.924C= (p.Cys308=) c.912C= (p.Cys304=) c.705C= (p.Cys235=) c.609C= (p.Cys203=) c.489C= (p.Cys163=) c.99C= (p.Cys33=) | |
5 | g.139379799G>T | CA361139919 | SLC23A1 | c.804C>A (p.Cys268Ter) c.816C>A (p.Cys272Ter) c.164+157C>A n.415C>A c.924C>A (p.Cys308Ter) c.912C>A (p.Cys304Ter) c.705C>A (p.Cys235Ter) c.609C>A (p.Cys203Ter) c.489C>A (p.Cys163Ter) c.99C>A (p.Cys33Ter) | |
5 | g.139379800C>A | CA361139922 | SLC23A1 | c.803G>T (p.Cys268Phe) c.815G>T (p.Cys272Phe) c.164+156G>T n.414G>T c.923G>T (p.Cys308Phe) c.911G>T (p.Cys304Phe) c.704G>T (p.Cys235Phe) c.608G>T (p.Cys203Phe) c.488G>T (p.Cys163Phe) c.98G>T (p.Cys33Phe) | |
5 | g.139379800C>G | CA361139925 | SLC23A1 | c.803G>C (p.Cys268Ser) c.815G>C (p.Cys272Ser) c.164+156G>C n.414G>C c.923G>C (p.Cys308Ser) c.911G>C (p.Cys304Ser) c.704G>C (p.Cys235Ser) c.608G>C (p.Cys203Ser) c.488G>C (p.Cys163Ser) c.98G>C (p.Cys33Ser) | |
5 | g.139379800C>T | CA361139927 | SLC23A1 | c.803G>A (p.Cys268Tyr) c.815G>A (p.Cys272Tyr) c.164+156G>A n.414G>A c.923G>A (p.Cys308Tyr) c.911G>A (p.Cys304Tyr) c.704G>A (p.Cys235Tyr) c.608G>A (p.Cys203Tyr) c.488G>A (p.Cys163Tyr) c.98G>A (p.Cys33Tyr) | |
5 | g.139379801A>C | CA361139931 | SLC23A1 | c.802T>G (p.Cys268Gly) c.814T>G (p.Cys272Gly) c.164+155T>G n.413T>G c.922T>G (p.Cys308Gly) c.910T>G (p.Cys304Gly) c.703T>G (p.Cys235Gly) c.607T>G (p.Cys203Gly) c.487T>G (p.Cys163Gly) c.97T>G (p.Cys33Gly) | |
5 | g.139379801A>G | CA361139933 | SLC23A1 | c.802T>C (p.Cys268Arg) c.814T>C (p.Cys272Arg) c.164+155T>C n.413T>C c.922T>C (p.Cys308Arg) c.910T>C (p.Cys304Arg) c.703T>C (p.Cys235Arg) c.607T>C (p.Cys203Arg) c.487T>C (p.Cys163Arg) c.97T>C (p.Cys33Arg) | |
5 | g.139379801A>T | CA361139935 | SLC23A1 | c.802T>A (p.Cys268Ser) c.814T>A (p.Cys272Ser) c.164+155T>A n.413T>A c.922T>A (p.Cys308Ser) c.910T>A (p.Cys304Ser) c.703T>A (p.Cys235Ser) c.607T>A (p.Cys203Ser) c.487T>A (p.Cys163Ser) c.97T>A (p.Cys33Ser) | |
5 | g.139379802G>A | CA446794038 | SLC23A1 | c.801C>T (p.Leu267=) c.813C>T (p.Leu271=) c.164+154C>T n.412C>T c.921C>T (p.Leu307=) c.909C>T (p.Leu303=) c.702C>T (p.Leu234=) c.606C>T (p.Leu202=) c.486C>T (p.Leu162=) c.96C>T (p.Leu32=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.139379802G>C | CA446794039 | SLC23A1 | c.801C>G (p.Leu267=) c.813C>G (p.Leu271=) c.164+154C>G n.412C>G c.921C>G (p.Leu307=) c.909C>G (p.Leu303=) c.702C>G (p.Leu234=) c.606C>G (p.Leu202=) c.486C>G (p.Leu162=) c.96C>G (p.Leu32=) | |
5 | g.139379802G= | CA1586303765 | SLC23A1 | c.801C= (p.Leu267=) c.813C= (p.Leu271=) c.164+154C= n.412C= c.921C= (p.Leu307=) c.909C= (p.Leu303=) c.702C= (p.Leu234=) c.606C= (p.Leu202=) c.486C= (p.Leu162=) c.96C= (p.Leu32=) | |
5 | g.139379802G>T | CA446794040 | SLC23A1 | c.801C>A (p.Leu267=) c.813C>A (p.Leu271=) c.164+154C>A n.412C>A c.921C>A (p.Leu307=) c.909C>A (p.Leu303=) c.702C>A (p.Leu234=) c.606C>A (p.Leu202=) c.486C>A (p.Leu162=) c.96C>A (p.Leu32=) | |
5 | g.139379803A>C | CA361139942 | SLC23A1 | c.800T>G (p.Leu267Arg) c.812T>G (p.Leu271Arg) c.164+153T>G n.411T>G c.920T>G (p.Leu307Arg) c.908T>G (p.Leu303Arg) c.701T>G (p.Leu234Arg) c.605T>G (p.Leu202Arg) c.485T>G (p.Leu162Arg) c.95T>G (p.Leu32Arg) | |
5 | g.139379803A>G | CA361139940 | SLC23A1 | c.800T>C (p.Leu267Pro) c.812T>C (p.Leu271Pro) c.164+153T>C n.411T>C c.920T>C (p.Leu307Pro) c.908T>C (p.Leu303Pro) c.701T>C (p.Leu234Pro) c.605T>C (p.Leu202Pro) c.485T>C (p.Leu162Pro) c.95T>C (p.Leu32Pro) | |
5 | g.139379803A>T | CA361139938 | SLC23A1 | c.800T>A (p.Leu267His) c.812T>A (p.Leu271His) c.164+153T>A n.411T>A c.920T>A (p.Leu307His) c.908T>A (p.Leu303His) c.701T>A (p.Leu234His) c.605T>A (p.Leu202His) c.485T>A (p.Leu162His) c.95T>A (p.Leu32His) | |
5 | g.139379804G>A | CA361139945 | SLC23A1 | c.799C>T (p.Leu267Phe) c.811C>T (p.Leu271Phe) c.164+152C>T n.410C>T c.919C>T (p.Leu307Phe) c.907C>T (p.Leu303Phe) c.700C>T (p.Leu234Phe) c.604C>T (p.Leu202Phe) c.484C>T (p.Leu162Phe) c.94C>T (p.Leu32Phe) | gnomAD v4 |
5 | g.139379804G>C | CA361139947 | SLC23A1 | c.799C>G (p.Leu267Val) c.811C>G (p.Leu271Val) c.164+152C>G n.410C>G c.919C>G (p.Leu307Val) c.907C>G (p.Leu303Val) c.700C>G (p.Leu234Val) c.604C>G (p.Leu202Val) c.484C>G (p.Leu162Val) c.94C>G (p.Leu32Val) | dbSNP |
5 | g.139379804G= | CA1586303767 | SLC23A1 | c.799C= (p.Leu267=) c.811C= (p.Leu271=) c.164+152C= n.410C= c.919C= (p.Leu307=) c.907C= (p.Leu303=) c.700C= (p.Leu234=) c.604C= (p.Leu202=) c.484C= (p.Leu162=) c.94C= (p.Leu32=) | |
5 | g.139379804G>T | CA361139949 | SLC23A1 | c.799C>A (p.Leu267Ile) c.811C>A (p.Leu271Ile) c.164+152C>A n.410C>A c.919C>A (p.Leu307Ile) c.907C>A (p.Leu303Ile) c.700C>A (p.Leu234Ile) c.604C>A (p.Leu202Ile) c.484C>A (p.Leu162Ile) c.94C>A (p.Leu32Ile) | |
5 | g.139379805C>A | CA446794041 | SLC23A1 | c.798G>T (p.Leu266=) c.810G>T (p.Leu270=) c.164+151G>T n.409G>T c.918G>T (p.Leu306=) c.906G>T (p.Leu302=) c.699G>T (p.Leu233=) c.603G>T (p.Leu201=) c.483G>T (p.Leu161=) c.93G>T (p.Leu31=) | |
5 | g.139379805C= | CA1586303772 | SLC23A1 | c.798G= (p.Leu266=) c.810G= (p.Leu270=) c.164+151G= n.409G= c.918G= (p.Leu306=) c.906G= (p.Leu302=) c.699G= (p.Leu233=) c.603G= (p.Leu201=) c.483G= (p.Leu161=) c.93G= (p.Leu31=) | |
5 | g.139379805C>G | CA446794042 | SLC23A1 | c.798G>C (p.Leu266=) c.810G>C (p.Leu270=) c.164+151G>C n.409G>C c.918G>C (p.Leu306=) c.906G>C (p.Leu302=) c.699G>C (p.Leu233=) c.603G>C (p.Leu201=) c.483G>C (p.Leu161=) c.93G>C (p.Leu31=) | |
5 | g.139379805C>T | CA3434042 | SLC23A1 | c.798G>A (p.Leu266=) c.810G>A (p.Leu270=) c.164+151G>A n.409G>A c.918G>A (p.Leu306=) c.906G>A (p.Leu302=) c.699G>A (p.Leu233=) c.603G>A (p.Leu201=) c.483G>A (p.Leu161=) c.93G>A (p.Leu31=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.139379806A>C | CA361139952 | SLC23A1 | c.797T>G (p.Leu266Arg) c.809T>G (p.Leu270Arg) c.164+150T>G n.408T>G c.917T>G (p.Leu306Arg) c.905T>G (p.Leu302Arg) c.698T>G (p.Leu233Arg) c.602T>G (p.Leu201Arg) c.482T>G (p.Leu161Arg) c.92T>G (p.Leu31Arg) | |
5 | g.139379806A>G | CA361139954 | SLC23A1 | c.797T>C (p.Leu266Pro) c.809T>C (p.Leu270Pro) c.164+150T>C n.408T>C c.917T>C (p.Leu306Pro) c.905T>C (p.Leu302Pro) c.698T>C (p.Leu233Pro) c.602T>C (p.Leu201Pro) c.482T>C (p.Leu161Pro) c.92T>C (p.Leu31Pro) | |
5 | g.139379806A>T | CA361139956 | SLC23A1 | c.797T>A (p.Leu266Gln) c.809T>A (p.Leu270Gln) c.164+150T>A n.408T>A c.917T>A (p.Leu306Gln) c.905T>A (p.Leu302Gln) c.698T>A (p.Leu233Gln) c.602T>A (p.Leu201Gln) c.482T>A (p.Leu161Gln) c.92T>A (p.Leu31Gln) | |
5 | g.139379807G>A | CA3434043 | SLC23A1 | c.796C>T (p.Leu266=) c.808C>T (p.Leu270=) c.164+149C>T n.407C>T c.916C>T (p.Leu306=) c.904C>T (p.Leu302=) c.697C>T (p.Leu233=) c.601C>T (p.Leu201=) c.481C>T (p.Leu161=) c.91C>T (p.Leu31=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.139379807G>C | CA361139966 | SLC23A1 | c.796C>G (p.Leu266Val) c.808C>G (p.Leu270Val) c.164+149C>G n.407C>G c.916C>G (p.Leu306Val) c.904C>G (p.Leu302Val) c.697C>G (p.Leu233Val) c.601C>G (p.Leu201Val) c.481C>G (p.Leu161Val) c.91C>G (p.Leu31Val) | |
5 | g.139379807G= | CA1586303774 | SLC23A1 | c.796C= (p.Leu266=) c.808C= (p.Leu270=) c.164+149C= n.407C= c.916C= (p.Leu306=) c.904C= (p.Leu302=) c.697C= (p.Leu233=) c.601C= (p.Leu201=) c.481C= (p.Leu161=) c.91C= (p.Leu31=) | |
5 | g.139379807G>T | CA361139968 | SLC23A1 | c.796C>A (p.Leu266Met) c.808C>A (p.Leu270Met) c.164+149C>A n.407C>A c.916C>A (p.Leu306Met) c.904C>A (p.Leu302Met) c.697C>A (p.Leu233Met) c.601C>A (p.Leu201Met) c.481C>A (p.Leu161Met) c.91C>A (p.Leu31Met) | |
5 | g.139379808C>A | CA361139972 | SLC23A1 | c.795G>T (p.Trp265Cys) c.807G>T (p.Trp269Cys) c.164+148G>T n.406G>T c.915G>T (p.Trp305Cys) c.903G>T (p.Trp301Cys) c.696G>T (p.Trp232Cys) c.600G>T (p.Trp200Cys) c.480G>T (p.Trp160Cys) c.90G>T (p.Trp30Cys) | |
5 | g.139379808C>G | CA361139974 | SLC23A1 | c.795G>C (p.Trp265Cys) c.807G>C (p.Trp269Cys) c.164+148G>C n.406G>C c.915G>C (p.Trp305Cys) c.903G>C (p.Trp301Cys) c.696G>C (p.Trp232Cys) c.600G>C (p.Trp200Cys) c.480G>C (p.Trp160Cys) c.90G>C (p.Trp30Cys) | |
5 | g.139379808C>T | CA361139977 | SLC23A1 | c.795G>A (p.Trp265Ter) c.807G>A (p.Trp269Ter) c.164+148G>A n.406G>A c.915G>A (p.Trp305Ter) c.903G>A (p.Trp301Ter) c.696G>A (p.Trp232Ter) c.600G>A (p.Trp200Ter) c.480G>A (p.Trp160Ter) c.90G>A (p.Trp30Ter) | |
5 | g.139379809C>A | CA361139983 | SLC23A1 | c.794G>T (p.Trp265Leu) c.806G>T (p.Trp269Leu) c.164+147G>T n.405G>T c.914G>T (p.Trp305Leu) c.902G>T (p.Trp301Leu) c.695G>T (p.Trp232Leu) c.599G>T (p.Trp200Leu) c.479G>T (p.Trp160Leu) c.89G>T (p.Trp30Leu) | |
5 | g.139379809C= | CA1586303776 | SLC23A1 | c.794G= (p.Trp265=) c.806G= (p.Trp269=) c.164+147G= n.405G= c.914G= (p.Trp305=) c.902G= (p.Trp301=) c.695G= (p.Trp232=) c.599G= (p.Trp200=) c.479G= (p.Trp160=) c.89G= (p.Trp30=) | |
5 | g.139379809C>G | CA361139981 | SLC23A1 | c.794G>C (p.Trp265Ser) c.806G>C (p.Trp269Ser) c.164+147G>C n.405G>C c.914G>C (p.Trp305Ser) c.902G>C (p.Trp301Ser) c.695G>C (p.Trp232Ser) c.599G>C (p.Trp200Ser) c.479G>C (p.Trp160Ser) c.89G>C (p.Trp30Ser) | |
5 | g.139379809C>T | CA3434044 | SLC23A1 | c.794G>A (p.Trp265Ter) c.806G>A (p.Trp269Ter) c.164+147G>A n.405G>A c.914G>A (p.Trp305Ter) c.902G>A (p.Trp301Ter) c.695G>A (p.Trp232Ter) c.599G>A (p.Trp200Ter) c.479G>A (p.Trp160Ter) c.89G>A (p.Trp30Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.139379810A= | CA1586303779 | SLC23A1 | c.793T= (p.Trp265=) c.805T= (p.Trp269=) c.164+146T= n.404T= c.913T= (p.Trp305=) c.901T= (p.Trp301=) c.694T= (p.Trp232=) c.598T= (p.Trp200=) c.478T= (p.Trp160=) c.88T= (p.Trp30=) | |
5 | g.139379810A>C | CA361139987 | SLC23A1 | c.793T>G (p.Trp265Gly) c.805T>G (p.Trp269Gly) c.164+146T>G n.404T>G c.913T>G (p.Trp305Gly) c.901T>G (p.Trp301Gly) c.694T>G (p.Trp232Gly) c.598T>G (p.Trp200Gly) c.478T>G (p.Trp160Gly) c.88T>G (p.Trp30Gly) | |
5 | g.139379810A>G | CA361139989 | SLC23A1 | c.793T>C (p.Trp265Arg) c.805T>C (p.Trp269Arg) c.164+146T>C n.404T>C c.913T>C (p.Trp305Arg) c.901T>C (p.Trp301Arg) c.694T>C (p.Trp232Arg) c.598T>C (p.Trp200Arg) c.478T>C (p.Trp160Arg) c.88T>C (p.Trp30Arg) | |
5 | g.139379810A>T | CA361139990 | SLC23A1 | c.793T>A (p.Trp265Arg) c.805T>A (p.Trp269Arg) c.164+146T>A n.404T>A c.913T>A (p.Trp305Arg) c.901T>A (p.Trp301Arg) c.694T>A (p.Trp232Arg) c.598T>A (p.Trp200Arg) c.478T>A (p.Trp160Arg) c.88T>A (p.Trp30Arg) | |
5 | g.139379811C>A | CA446794044 | SLC23A1 | c.792G>T (p.Val264=) c.804G>T (p.Val268=) c.164+145G>T n.403G>T c.912G>T (p.Val304=) c.900G>T (p.Val300=) c.693G>T (p.Val231=) c.597G>T (p.Val199=) c.477G>T (p.Val159=) c.87G>T (p.Val29=) | gnomAD v4 |
5 | g.139379811C= | CA1586303783 | SLC23A1 | c.792G= (p.Val264=) c.804G= (p.Val268=) c.164+145G= n.403G= c.912G= (p.Val304=) c.900G= (p.Val300=) c.693G= (p.Val231=) c.597G= (p.Val199=) c.477G= (p.Val159=) c.87G= (p.Val29=) | |
5 | g.139379811C>G | CA446794043 | SLC23A1 | c.792G>C (p.Val264=) c.804G>C (p.Val268=) c.164+145G>C n.403G>C c.912G>C (p.Val304=) c.900G>C (p.Val300=) c.693G>C (p.Val231=) c.597G>C (p.Val199=) c.477G>C (p.Val159=) c.87G>C (p.Val29=) | |
5 | g.139379811C>T | CA3434045 | SLC23A1 | c.792G>A (p.Val264=) c.804G>A (p.Val268=) c.164+145G>A n.403G>A c.912G>A (p.Val304=) c.900G>A (p.Val300=) c.693G>A (p.Val231=) c.597G>A (p.Val199=) c.477G>A (p.Val159=) c.87G>A (p.Val29=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.139379811dup | CA128242519 | SLC23A1 | c.792dup (p.Trp265ValfsTer?) c.804dup (p.Trp269ValfsTer?) c.164+145dup n.403dup c.912dup (p.Trp305ValfsTer?) c.900dup (p.Trp301ValfsTer?) c.693dup (p.Trp232ValfsTer?) c.597dup (p.Trp200ValfsTer?) c.477dup (p.Trp160ValfsTer?) c.87dup (p.Trp30ValfsTer?) | dbSNP |
5 | g.139379812A= | CA1586303787 | SLC23A1 | c.791T= (p.Val264=) c.803T= (p.Val268=) c.164+144T= n.402T= c.911T= (p.Val304=) c.899T= (p.Val300=) c.692T= (p.Val231=) c.596T= (p.Val199=) c.476T= (p.Val159=) c.86T= (p.Val29=) | |
5 | g.139379812A>C | CA361139995 | SLC23A1 | c.791T>G (p.Val264Gly) c.803T>G (p.Val268Gly) c.164+144T>G n.402T>G c.911T>G (p.Val304Gly) c.899T>G (p.Val300Gly) c.692T>G (p.Val231Gly) c.596T>G (p.Val199Gly) c.476T>G (p.Val159Gly) c.86T>G (p.Val29Gly) | |
5 | g.139379812A>G | CA361139997 | SLC23A1 | c.791T>C (p.Val264Ala) c.803T>C (p.Val268Ala) c.164+144T>C n.402T>C c.911T>C (p.Val304Ala) c.899T>C (p.Val300Ala) c.692T>C (p.Val231Ala) c.596T>C (p.Val199Ala) c.476T>C (p.Val159Ala) c.86T>C (p.Val29Ala) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.139379812A>T | CA361139998 | SLC23A1 | c.791T>A (p.Val264Glu) c.803T>A (p.Val268Glu) c.164+144T>A n.402T>A c.911T>A (p.Val304Glu) c.899T>A (p.Val300Glu) c.692T>A (p.Val231Glu) c.596T>A (p.Val199Glu) c.476T>A (p.Val159Glu) c.86T>A (p.Val29Glu) | |
5 | g.139379813C>A | CA361140002 | SLC23A1 | c.790G>T (p.Val264Leu) c.802G>T (p.Val268Leu) c.164+143G>T n.401G>T c.910G>T (p.Val304Leu) c.898G>T (p.Val300Leu) c.691G>T (p.Val231Leu) c.595G>T (p.Val199Leu) c.475G>T (p.Val159Leu) c.85G>T (p.Val29Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.139379813C= | CA1586303790 | SLC23A1 | c.790G= (p.Val264=) c.802G= (p.Val268=) c.164+143G= n.401G= c.910G= (p.Val304=) c.898G= (p.Val300=) c.691G= (p.Val231=) c.595G= (p.Val199=) c.475G= (p.Val159=) c.85G= (p.Val29=) | |
5 | g.139379813C>G | CA361140004 | SLC23A1 | c.790G>C (p.Val264Leu) c.802G>C (p.Val268Leu) c.164+143G>C n.401G>C c.910G>C (p.Val304Leu) c.898G>C (p.Val300Leu) c.691G>C (p.Val231Leu) c.595G>C (p.Val199Leu) c.475G>C (p.Val159Leu) c.85G>C (p.Val29Leu) | dbSNP |
5 | g.139379813C>T | CA3434046 | SLC23A1 | c.790G>A (p.Val264Met) c.802G>A (p.Val268Met) c.164+143G>A n.401G>A c.910G>A (p.Val304Met) c.898G>A (p.Val300Met) c.691G>A (p.Val231Met) c.595G>A (p.Val199Met) c.475G>A (p.Val159Met) c.85G>A (p.Val29Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.139379814G>A | CA3434047 | SLC23A1 | c.789C>T (p.Thr263=) c.801C>T (p.Thr267=) c.164+142C>T n.400C>T c.909C>T (p.Thr303=) c.897C>T (p.Thr299=) c.690C>T (p.Thr230=) c.594C>T (p.Thr198=) c.474C>T (p.Thr158=) c.84C>T (p.Thr28=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.139379814G>C | CA446794046 | SLC23A1 | c.789C>G (p.Thr263=) c.801C>G (p.Thr267=) c.164+142C>G n.400C>G c.909C>G (p.Thr303=) c.897C>G (p.Thr299=) c.690C>G (p.Thr230=) c.594C>G (p.Thr198=) c.474C>G (p.Thr158=) c.84C>G (p.Thr28=) | |
5 | g.139379814G= | CA1586303794 | SLC23A1 | c.789C= (p.Thr263=) c.801C= (p.Thr267=) c.164+142C= n.400C= c.909C= (p.Thr303=) c.897C= (p.Thr299=) c.690C= (p.Thr230=) c.594C= (p.Thr198=) c.474C= (p.Thr158=) c.84C= (p.Thr28=) | |
5 | g.139379814G>T | CA446794045 | SLC23A1 | c.789C>A (p.Thr263=) c.801C>A (p.Thr267=) c.164+142C>A n.400C>A c.909C>A (p.Thr303=) c.897C>A (p.Thr299=) c.690C>A (p.Thr230=) c.594C>A (p.Thr198=) c.474C>A (p.Thr158=) c.84C>A (p.Thr28=) | |
5 | g.139379815G>A | CA361140010 | SLC23A1 | c.788C>T (p.Thr263Ile) c.800C>T (p.Thr267Ile) c.164+141C>T n.399C>T c.908C>T (p.Thr303Ile) c.896C>T (p.Thr299Ile) c.689C>T (p.Thr230Ile) c.593C>T (p.Thr198Ile) c.473C>T (p.Thr158Ile) c.83C>T (p.Thr28Ile) | gnomAD v4 |
5 | g.139379815G>C | CA361140013 | SLC23A1 | c.788C>G (p.Thr263Ser) c.800C>G (p.Thr267Ser) c.164+141C>G n.399C>G c.908C>G (p.Thr303Ser) c.896C>G (p.Thr299Ser) c.689C>G (p.Thr230Ser) c.593C>G (p.Thr198Ser) c.473C>G (p.Thr158Ser) c.83C>G (p.Thr28Ser) | |
5 | g.139379815G>T | CA361140015 | SLC23A1 | c.788C>A (p.Thr263Asn) c.800C>A (p.Thr267Asn) c.164+141C>A n.399C>A c.908C>A (p.Thr303Asn) c.896C>A (p.Thr299Asn) c.689C>A (p.Thr230Asn) c.593C>A (p.Thr198Asn) c.473C>A (p.Thr158Asn) c.83C>A (p.Thr28Asn) | |
5 | g.139379816T>A | CA361140027 | SLC23A1 | c.787A>T (p.Thr263Ser) c.799A>T (p.Thr267Ser) c.164+140A>T n.398A>T c.907A>T (p.Thr303Ser) c.895A>T (p.Thr299Ser) c.688A>T (p.Thr230Ser) c.592A>T (p.Thr198Ser) c.472A>T (p.Thr158Ser) c.82A>T (p.Thr28Ser) | |
5 | g.139379816T>C | CA361140029 | SLC23A1 | c.787A>G (p.Thr263Ala) c.799A>G (p.Thr267Ala) c.164+140A>G n.398A>G c.907A>G (p.Thr303Ala) c.895A>G (p.Thr299Ala) c.688A>G (p.Thr230Ala) c.592A>G (p.Thr198Ala) c.472A>G (p.Thr158Ala) c.82A>G (p.Thr28Ala) | dbSNP |
5 | g.139379816T>G | CA361140018 | SLC23A1 | c.787A>C (p.Thr263Pro) c.799A>C (p.Thr267Pro) c.164+140A>C n.398A>C c.907A>C (p.Thr303Pro) c.895A>C (p.Thr299Pro) c.688A>C (p.Thr230Pro) c.592A>C (p.Thr198Pro) c.472A>C (p.Thr158Pro) c.82A>C (p.Thr28Pro) |