Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.124400876_124400877delinsCT | CA1942337006 | OAT | c.1122_1123delinsAG (p.Lys374=) n.632_633delinsAG c.708_709delinsAG (p.Lys236=) c.801_802delinsAG (p.Lys267=) c.522_523delinsAG (p.Lys174=) | |
10 | g.124400877T>A | CA378633580 | OAT | c.1122A>T (p.Lys374Asn) n.632A>T c.708A>T (p.Lys236Asn) c.801A>T (p.Lys267Asn) c.522A>T (p.Lys174Asn) | |
10 | g.124400877T>C | CA471762617 | OAT | c.1122A>G (p.Lys374=) n.632A>G c.708A>G (p.Lys236=) c.801A>G (p.Lys267=) c.522A>G (p.Lys174=) | gnomAD v4 |
10 | g.124400877T>G | CA378633579 | OAT | c.1122A>C (p.Lys374Asn) n.632A>C c.708A>C (p.Lys236Asn) c.801A>C (p.Lys267Asn) c.522A>C (p.Lys174Asn) | |
10 | g.124400880del | CA5733327 | OAT | c.1122del (p.Gly375AspfsTer3) n.632del c.708del (p.Gly237AspfsTer3) c.801del (p.Gly268AspfsTer3) c.522del (p.Gly175AspfsTer3) | dbSNP ExAC gnomAD v4 |
10 | g.124400878T>A | CA378633583 | OAT | c.1121A>T (p.Lys374Ile) n.631A>T c.707A>T (p.Lys236Ile) c.800A>T (p.Lys267Ile) c.521A>T (p.Lys174Ile) | |
10 | g.124400878T>C | CA378633581 | OAT | c.1121A>G (p.Lys374Arg) n.631A>G c.707A>G (p.Lys236Arg) c.800A>G (p.Lys267Arg) c.521A>G (p.Lys174Arg) | |
10 | g.124400878T>G | CA378633582 | OAT | c.1121A>C (p.Lys374Thr) n.631A>C c.707A>C (p.Lys236Thr) c.800A>C (p.Lys267Thr) c.521A>C (p.Lys174Thr) | |
10 | g.124400879T>A | CA378633584 | OAT | c.1120A>T (p.Lys374Ter) n.630A>T c.706A>T (p.Lys236Ter) c.799A>T (p.Lys267Ter) c.520A>T (p.Lys174Ter) | |
10 | g.124400879T>C | CA378633585 | OAT | c.1120A>G (p.Lys374Glu) n.630A>G c.706A>G (p.Lys236Glu) c.799A>G (p.Lys267Glu) c.520A>G (p.Lys174Glu) | |
10 | g.124400879T>G | CA378633586 | OAT | c.1120A>C (p.Lys374Gln) n.630A>C c.706A>C (p.Lys236Gln) c.799A>C (p.Lys267Gln) c.520A>C (p.Lys174Gln) | |
10 | g.124400880T>A | CA471762618 | OAT | c.1119A>T (p.Gly373=) n.629A>T c.705A>T (p.Gly235=) c.798A>T (p.Gly266=) c.519A>T (p.Gly173=) | |
10 | g.124400880T>C | CA471762619 | OAT | c.1119A>G (p.Gly373=) n.629A>G c.705A>G (p.Gly235=) c.798A>G (p.Gly266=) c.519A>G (p.Gly173=) | |
10 | g.124400880T>G | CA471762620 | OAT | c.1119A>C (p.Gly373=) n.629A>C c.705A>C (p.Gly235=) c.798A>C (p.Gly266=) c.519A>C (p.Gly173=) | |
10 | g.124400881C>A | CA378633587 | OAT | c.1118G>T (p.Gly373Val) n.628G>T c.704G>T (p.Gly235Val) c.797G>T (p.Gly266Val) c.518G>T (p.Gly173Val) | |
10 | g.124400881C= | CA1942337007 | OAT | c.1118G= (p.Gly373=) n.628G= c.704G= (p.Gly235=) c.797G= (p.Gly266=) c.518G= (p.Gly173=) | |
10 | g.124400881C>G | CA378633588 | OAT | c.1118G>C (p.Gly373Ala) n.628G>C c.704G>C (p.Gly235Ala) c.797G>C (p.Gly266Ala) c.518G>C (p.Gly173Ala) | |
10 | g.124400881C>T | CA144134 | OAT | c.1118G>A (p.Gly373Glu) n.628G>A c.704G>A (p.Gly235Glu) c.797G>A (p.Gly266Glu) c.518G>A (p.Gly173Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.124400882C>A | CA378633589 | OAT | c.1117G>T (p.Gly373Ter) n.627G>T c.703G>T (p.Gly235Ter) c.796G>T (p.Gly266Ter) c.517G>T (p.Gly173Ter) | |
10 | g.124400882C>G | CA378633590 | OAT | c.1117G>C (p.Gly373Arg) n.627G>C c.703G>C (p.Gly235Arg) c.796G>C (p.Gly266Arg) c.517G>C (p.Gly173Arg) | |
10 | g.124400882C>T | CA378633591 | OAT | c.1117G>A (p.Gly373Arg) n.627G>A c.703G>A (p.Gly235Arg) c.796G>A (p.Gly266Arg) c.517G>A (p.Gly173Arg) | |
10 | g.124400883T>A | CA378633592 | OAT | c.1116A>T (p.Arg372Ser) n.626A>T c.702A>T (p.Arg234Ser) c.795A>T (p.Arg265Ser) c.516A>T (p.Arg172Ser) | |
10 | g.124400883T>C | CA471762621 | OAT | c.1116A>G (p.Arg372=) n.626A>G c.702A>G (p.Arg234=) c.795A>G (p.Arg265=) c.516A>G (p.Arg172=) | |
10 | g.124400883T>G | CA378633593 | OAT | c.1116A>C (p.Arg372Ser) n.626A>C c.702A>C (p.Arg234Ser) c.795A>C (p.Arg265Ser) c.516A>C (p.Arg172Ser) | |
10 | g.124400884C>A | CA378633596 | OAT | c.1115G>T (p.Arg372Ile) n.625G>T c.701G>T (p.Arg234Ile) c.794G>T (p.Arg265Ile) c.515G>T (p.Arg172Ile) | |
10 | g.124400884C= | CA1942337008 | OAT | c.1115G= (p.Arg372=) n.625G= c.701G= (p.Arg234=) c.794G= (p.Arg265=) c.515G= (p.Arg172=) | |
10 | g.124400884C>G | CA378633594 | OAT | c.1115G>C (p.Arg372Thr) n.625G>C c.701G>C (p.Arg234Thr) c.794G>C (p.Arg265Thr) c.515G>C (p.Arg172Thr) | |
10 | g.124400884C>T | CA378633595 | OAT | c.1115G>A (p.Arg372Lys) n.625G>A c.701G>A (p.Arg234Lys) c.794G>A (p.Arg265Lys) c.515G>A (p.Arg172Lys) | dbSNP |
10 | g.124400885T>A | CA378633597 | OAT | c.1114A>T (p.Arg372Ter) n.624A>T c.700A>T (p.Arg234Ter) c.793A>T (p.Arg265Ter) c.514A>T (p.Arg172Ter) | |
10 | g.124400885T>C | CA378633598 | OAT | c.1114A>G (p.Arg372Gly) n.624A>G c.700A>G (p.Arg234Gly) c.793A>G (p.Arg265Gly) c.514A>G (p.Arg172Gly) | |
10 | g.124400885T>G | CA471762622 | OAT | c.1114A>C (p.Arg372=) n.624A>C c.700A>C (p.Arg234=) c.793A>C (p.Arg265=) c.514A>C (p.Arg172=) | |
10 | g.124400885_124400886insG | CA2554735380 | OAT | c.1113_1114insC (p.Arg372GlnfsTer12) n.623_624insC c.699_700insC (p.Arg234GlnfsTer12) c.792_793insC (p.Arg265GlnfsTer12) c.513_514insC (p.Arg172GlnfsTer12) | |
10 | g.124400886T>A | CA5733329 | OAT | c.1113A>T (p.Val371=) n.623A>T c.699A>T (p.Val233=) c.792A>T (p.Val264=) c.513A>T (p.Val171=) | dbSNP ExAC |
10 | g.124400886T>C | CA215245032 | OAT | c.1113A>G (p.Val371=) n.623A>G c.699A>G (p.Val233=) c.792A>G (p.Val264=) c.513A>G (p.Val171=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124400886T>G | CA471762623 | OAT | c.1113A>C (p.Val371=) n.623A>C c.699A>C (p.Val233=) c.792A>C (p.Val264=) c.513A>C (p.Val171=) | |
10 | g.124400886T= | CA1942337009 | OAT | c.1113A= (p.Val371=) n.623A= c.699A= (p.Val233=) c.792A= (p.Val264=) c.513A= (p.Val171=) | |
10 | g.124400887A>C | CA378633599 | OAT | c.1112T>G (p.Val371Gly) n.622T>G c.698T>G (p.Val233Gly) c.791T>G (p.Val264Gly) c.512T>G (p.Val171Gly) | |
10 | g.124400887A>G | CA378633600 | OAT | c.1112T>C (p.Val371Ala) n.622T>C c.698T>C (p.Val233Ala) c.791T>C (p.Val264Ala) c.512T>C (p.Val171Ala) | |
10 | g.124400887A>T | CA378633601 | OAT | c.1112T>A (p.Val371Glu) n.622T>A c.698T>A (p.Val233Glu) c.791T>A (p.Val264Glu) c.512T>A (p.Val171Glu) | |
10 | g.124400887dup | CA5733328 | OAT | c.1112dup (p.Arg372LysfsTer12) n.622dup c.698dup (p.Arg234LysfsTer12) c.791dup (p.Arg265LysfsTer12) c.512dup (p.Arg172LysfsTer12) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124400887_124400888del | CA2562671761 | OAT | c.1111_1112del (p.Val371LysfsTer12) n.621_622del c.697_698del (p.Val233LysfsTer12) c.790_791del (p.Val264LysfsTer12) c.511_512del (p.Val171LysfsTer12) | |
10 | g.124400888C>A | CA378633602 | OAT | c.1111G>T (p.Val371Leu) n.621G>T c.697G>T (p.Val233Leu) c.790G>T (p.Val264Leu) c.511G>T (p.Val171Leu) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.124400888C= | CA1942337010 | OAT | c.1111G= (p.Val371=) n.621G= c.697G= (p.Val233=) c.790G= (p.Val264=) c.511G= (p.Val171=) | |
10 | g.124400888C>G | CA378633603 | OAT | c.1111G>C (p.Val371Leu) n.621G>C c.697G>C (p.Val233Leu) c.790G>C (p.Val264Leu) c.511G>C (p.Val171Leu) | |
10 | g.124400888C>T | CA5733330 | OAT | c.1111G>A (p.Val371Ile) n.621G>A c.697G>A (p.Val233Ile) c.790G>A (p.Val264Ile) c.511G>A (p.Val171Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124400889G>A | CA5733331 | OAT | c.1110C>T (p.Ala370=) n.620C>T c.696C>T (p.Ala232=) c.789C>T (p.Ala263=) c.510C>T (p.Ala170=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124400889G>C | CA471762624 | OAT | c.1110C>G (p.Ala370=) n.620C>G c.696C>G (p.Ala232=) c.789C>G (p.Ala263=) c.510C>G (p.Ala170=) | |
10 | g.124400889G= | CA1942337011 | OAT | c.1110C= (p.Ala370=) n.620C= c.696C= (p.Ala232=) c.789C= (p.Ala263=) c.510C= (p.Ala170=) | |
10 | g.124400889G>T | CA5733332 | OAT | c.1110C>A (p.Ala370=) n.620C>A c.696C>A (p.Ala232=) c.789C>A (p.Ala263=) c.510C>A (p.Ala170=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.124400890G>A | CA5733333 | OAT | c.1109C>T (p.Ala370Val) n.619C>T c.695C>T (p.Ala232Val) c.788C>T (p.Ala263Val) c.509C>T (p.Ala170Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.124400890G>C | CA378633605 | OAT | c.1109C>G (p.Ala370Gly) n.619C>G c.695C>G (p.Ala232Gly) c.788C>G (p.Ala263Gly) c.509C>G (p.Ala170Gly) | |
10 | g.124400890G= | CA1942337012 | OAT | c.1109C= (p.Ala370=) n.619C= c.695C= (p.Ala232=) c.788C= (p.Ala263=) c.509C= (p.Ala170=) | |
10 | g.124400890G>T | CA378633604 | OAT | c.1109C>A (p.Ala370Asp) n.619C>A c.695C>A (p.Ala232Asp) c.788C>A (p.Ala263Asp) c.509C>A (p.Ala170Asp) | |
10 | g.124400891C>A | CA378633606 | OAT | c.1108G>T (p.Ala370Ser) n.618G>T c.694G>T (p.Ala232Ser) c.787G>T (p.Ala263Ser) c.508G>T (p.Ala170Ser) | |
10 | g.124400891C>G | CA378633608 | OAT | c.1108G>C (p.Ala370Pro) n.618G>C c.694G>C (p.Ala232Pro) c.787G>C (p.Ala263Pro) c.508G>C (p.Ala170Pro) | |
10 | g.124400891C>T | CA378633607 | OAT | c.1108G>A (p.Ala370Thr) n.618G>A c.694G>A (p.Ala232Thr) c.787G>A (p.Ala263Thr) c.508G>A (p.Ala170Thr) | |
10 | g.124400892A>C | CA471762625 | OAT | c.1107T>G (p.Thr369=) n.617T>G c.693T>G (p.Thr231=) c.786T>G (p.Thr262=) c.507T>G (p.Thr169=) | |
10 | g.124400892A>G | CA471762626 | OAT | c.1107T>C (p.Thr369=) n.617T>C c.693T>C (p.Thr231=) c.786T>C (p.Thr262=) c.507T>C (p.Thr169=) | gnomAD v4 |
10 | g.124400892A>T | CA471762627 | OAT | c.1107T>A (p.Thr369=) n.617T>A c.693T>A (p.Thr231=) c.786T>A (p.Thr262=) c.507T>A (p.Thr169=) | |
10 | g.124400893G>A | CA378633609 | OAT | c.1106C>T (p.Thr369Ile) n.616C>T c.692C>T (p.Thr231Ile) c.785C>T (p.Thr262Ile) c.506C>T (p.Thr169Ile) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
10 | g.124400893G>C | CA378633610 | OAT | c.1106C>G (p.Thr369Ser) n.616C>G c.692C>G (p.Thr231Ser) c.785C>G (p.Thr262Ser) c.506C>G (p.Thr169Ser) | |
10 | g.124400893G= | CA1942337013 | OAT | c.1106C= (p.Thr369=) n.616C= c.692C= (p.Thr231=) c.785C= (p.Thr262=) c.506C= (p.Thr169=) | |
10 | g.124400893G>T | CA378633611 | OAT | c.1106C>A (p.Thr369Asn) n.616C>A c.692C>A (p.Thr231Asn) c.785C>A (p.Thr262Asn) c.506C>A (p.Thr169Asn) | |
10 | g.124400894T>A | CA378633612 | OAT | c.1105A>T (p.Thr369Ser) n.615A>T c.691A>T (p.Thr231Ser) c.784A>T (p.Thr262Ser) c.505A>T (p.Thr169Ser) | gnomAD v4 |
10 | g.124400894T>C | CA378633613 | OAT | c.1105A>G (p.Thr369Ala) n.615A>G c.691A>G (p.Thr231Ala) c.784A>G (p.Thr262Ala) c.505A>G (p.Thr169Ala) | |
10 | g.124400894T>G | CA378633614 | OAT | c.1105A>C (p.Thr369Pro) n.615A>C c.691A>C (p.Thr231Pro) c.784A>C (p.Thr262Pro) c.505A>C (p.Thr169Pro) | dbSNP |
10 | g.124400894T= | CA1942337014 | OAT | c.1105A= (p.Thr369=) n.615A= c.691A= (p.Thr231=) c.784A= (p.Thr262=) c.505A= (p.Thr169=) | |
10 | g.124400895T>A | CA471762628 | OAT | c.1104A>T (p.Val368=) n.614A>T c.690A>T (p.Val230=) c.783A>T (p.Val261=) c.504A>T (p.Val168=) | |
10 | g.124400895T>C | CA5733334 | OAT | c.1104A>G (p.Val368=) n.614A>G c.690A>G (p.Val230=) c.783A>G (p.Val261=) c.504A>G (p.Val168=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.124400895T>G | CA471762629 | OAT | c.1104A>C (p.Val368=) n.614A>C c.690A>C (p.Val230=) c.783A>C (p.Val261=) c.504A>C (p.Val168=) | gnomAD v4 |
10 | g.124400895T= | CA1942337015 | OAT | c.1104A= (p.Val368=) n.614A= c.690A= (p.Val230=) c.783A= (p.Val261=) c.504A= (p.Val168=) | |
10 | g.124400895_124400898delinsTACA | CA1942337016 | OAT | c.1101_1104delinsTGTA (p.Val367=) n.611_614delinsTGTA c.687_690delinsTGTA (p.Val229=) c.780_783delinsTGTA (p.Val260=) c.501_504delinsTGTA (p.Val167=) | |
10 | g.124400896A>C | CA378633615 | OAT | c.1103T>G (p.Val368Gly) n.613T>G c.689T>G (p.Val230Gly) c.782T>G (p.Val261Gly) c.503T>G (p.Val168Gly) | |
10 | g.124400896A>G | CA378633616 | OAT | c.1103T>C (p.Val368Ala) n.613T>C c.689T>C (p.Val230Ala) c.782T>C (p.Val261Ala) c.503T>C (p.Val168Ala) | |
10 | g.124400896A>T | CA378633617 | OAT | c.1103T>A (p.Val368Glu) n.613T>A c.689T>A (p.Val230Glu) c.782T>A (p.Val261Glu) c.503T>A (p.Val168Glu) | |
10 | g.124400899_124400901del | CA596407250 | OAT | c.1101_1103del (p.Val368del) n.611_613del c.687_689del (p.Val230del) c.780_782del (p.Val261del) c.501_503del (p.Val168del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124400897C>A | CA378633620 | OAT | c.1102G>T (p.Val368Leu) n.612G>T c.688G>T (p.Val230Leu) c.781G>T (p.Val261Leu) c.502G>T (p.Val168Leu) | |
10 | g.124400897C>G | CA378633619 | OAT | c.1102G>C (p.Val368Leu) n.612G>C c.688G>C (p.Val230Leu) c.781G>C (p.Val261Leu) c.502G>C (p.Val168Leu) | |
10 | g.124400897C>T | CA378633618 | OAT | c.1102G>A (p.Val368Ile) n.612G>A c.688G>A (p.Val230Ile) c.781G>A (p.Val261Ile) c.502G>A (p.Val168Ile) | |
10 | g.124400898A= | CA1942337017 | OAT | c.1101T= (p.Val367=) n.611T= c.687T= (p.Val229=) c.780T= (p.Val260=) c.501T= (p.Val167=) | |
10 | g.124400898A>C | CA471762630 | OAT | c.1101T>G (p.Val367=) n.611T>G c.687T>G (p.Val229=) c.780T>G (p.Val260=) c.501T>G (p.Val167=) | |
10 | g.124400898A>G | CA471762631 | OAT | c.1101T>C (p.Val367=) n.611T>C c.687T>C (p.Val229=) c.780T>C (p.Val260=) c.501T>C (p.Val167=) | dbSNP gnomAD v2 |
10 | g.124400898A>T | CA471762632 | OAT | c.1101T>A (p.Val367=) n.611T>A c.687T>A (p.Val229=) c.780T>A (p.Val260=) c.501T>A (p.Val167=) | |
10 | g.124400899A>C | CA378633621 | OAT | c.1100T>G (p.Val367Gly) n.610T>G c.686T>G (p.Val229Gly) c.779T>G (p.Val260Gly) c.500T>G (p.Val167Gly) | |
10 | g.124400899A>G | CA378633622 | OAT | c.1100T>C (p.Val367Ala) n.610T>C c.686T>C (p.Val229Ala) c.779T>C (p.Val260Ala) c.500T>C (p.Val167Ala) | |
10 | g.124400899A>T | CA378633623 | OAT | c.1100T>A (p.Val367Asp) n.610T>A c.686T>A (p.Val229Asp) c.779T>A (p.Val260Asp) c.500T>A (p.Val167Asp) | gnomAD v4 |
10 | g.124400900C>A | CA378633624 | OAT | c.1099G>T (p.Val367Phe) n.609G>T c.685G>T (p.Val229Phe) c.778G>T (p.Val260Phe) c.499G>T (p.Val167Phe) | dbSNP |
10 | g.124400900C= | CA1942337018 | OAT | c.1099G= (p.Val367=) n.609G= c.685G= (p.Val229=) c.778G= (p.Val260=) c.499G= (p.Val167=) | |
10 | g.124400900C>G | CA378633625 | OAT | c.1099G>C (p.Val367Leu) n.609G>C c.685G>C (p.Val229Leu) c.778G>C (p.Val260Leu) c.499G>C (p.Val167Leu) | |
10 | g.124400900C>T | CA378633626 | OAT | c.1099G>A (p.Val367Ile) n.609G>A c.685G>A (p.Val229Ile) c.778G>A (p.Val260Ile) c.499G>A (p.Val167Ile) | dbSNP |
10 | g.124400901A>C | CA378633627 | OAT | c.1098T>G (p.Asp366Glu) n.608T>G c.684T>G (p.Asp228Glu) c.777T>G (p.Asp259Glu) c.498T>G (p.Asp166Glu) | gnomAD v4 |
10 | g.124400901A>G | CA471762633 | OAT | c.1098T>C (p.Asp366=) n.608T>C c.684T>C (p.Asp228=) c.777T>C (p.Asp259=) c.498T>C (p.Asp166=) | gnomAD v4 |
10 | g.124400901A>T | CA378633628 | OAT | c.1098T>A (p.Asp366Glu) n.608T>A c.684T>A (p.Asp228Glu) c.777T>A (p.Asp259Glu) c.498T>A (p.Asp166Glu) | |
10 | g.124400902T>A | CA378633629 | OAT | c.1097A>T (p.Asp366Val) n.607A>T c.683A>T (p.Asp228Val) c.776A>T (p.Asp259Val) c.497A>T (p.Asp166Val) | gnomAD v4 |
10 | g.124400902T>C | CA378633630 | OAT | c.1097A>G (p.Asp366Gly) n.607A>G c.683A>G (p.Asp228Gly) c.776A>G (p.Asp259Gly) c.497A>G (p.Asp166Gly) | |
10 | g.124400902T>G | CA378633631 | OAT | c.1097A>C (p.Asp366Ala) n.607A>C c.683A>C (p.Asp228Ala) c.776A>C (p.Asp259Ala) c.497A>C (p.Asp166Ala) | gnomAD v4 |
10 | g.124400903C>A | CA378633633 | OAT | c.1096G>T (p.Asp366Tyr) n.606G>T c.682G>T (p.Asp228Tyr) c.775G>T (p.Asp259Tyr) c.496G>T (p.Asp166Tyr) | |
10 | g.124400903C>G | CA378633634 | OAT | c.1096G>C (p.Asp366His) n.606G>C c.682G>C (p.Asp228His) c.775G>C (p.Asp259His) c.496G>C (p.Asp166His) | |
10 | g.124400903C>T | CA378633632 | OAT | c.1096G>A (p.Asp366Asn) n.606G>A c.682G>A (p.Asp228Asn) c.775G>A (p.Asp259Asn) c.496G>A (p.Asp166Asn) | |
10 | g.124400904A>C | CA471762634 | OAT | c.1095T>G (p.Ser365=) n.605T>G c.681T>G (p.Ser227=) c.774T>G (p.Ser258=) c.495T>G (p.Ser165=) | |
10 | g.124400904A>G | CA471762635 | OAT | c.1095T>C (p.Ser365=) n.605T>C c.681T>C (p.Ser227=) c.774T>C (p.Ser258=) c.495T>C (p.Ser165=) | |
10 | g.124400904A>T | CA471762636 | OAT | c.1095T>A (p.Ser365=) n.605T>A c.681T>A (p.Ser227=) c.774T>A (p.Ser258=) c.495T>A (p.Ser165=) | |
10 | g.124400905G>A | CA378633635 | OAT | c.1094C>T (p.Ser365Phe) n.604C>T c.680C>T (p.Ser227Phe) c.773C>T (p.Ser258Phe) c.494C>T (p.Ser165Phe) | dbSNP |
10 | g.124400905G>C | CA378633636 | OAT | c.1094C>G (p.Ser365Cys) n.604C>G c.680C>G (p.Ser227Cys) c.773C>G (p.Ser258Cys) c.494C>G (p.Ser165Cys) | |
10 | g.124400905G= | CA1942337019 | OAT | c.1094C= (p.Ser365=) n.604C= c.680C= (p.Ser227=) c.773C= (p.Ser258=) c.494C= (p.Ser165=) | |
10 | g.124400905G>T | CA378633637 | OAT | c.1094C>A (p.Ser365Tyr) n.604C>A c.680C>A (p.Ser227Tyr) c.773C>A (p.Ser258Tyr) c.494C>A (p.Ser165Tyr) | |
10 | g.124400906A= | CA1942337020 | OAT | c.1093T= (p.Ser365=) n.603T= c.679T= (p.Ser227=) c.772T= (p.Ser258=) c.493T= (p.Ser165=) | |
10 | g.124400906A>C | CA378633638 | OAT | c.1093T>G (p.Ser365Ala) n.603T>G c.679T>G (p.Ser227Ala) c.772T>G (p.Ser258Ala) c.493T>G (p.Ser165Ala) | |
10 | g.124400906A>G | CA5733335 | OAT | c.1093T>C (p.Ser365Pro) n.603T>C c.679T>C (p.Ser227Pro) c.772T>C (p.Ser258Pro) c.493T>C (p.Ser165Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.124400906A>T | CA378633639 | OAT | c.1093T>A (p.Ser365Thr) n.603T>A c.679T>A (p.Ser227Thr) c.772T>A (p.Ser258Thr) c.493T>A (p.Ser165Thr) | |
10 | g.124400907A>C | CA471762639 | OAT | c.1092T>G (p.Pro364=) n.602T>G c.678T>G (p.Pro226=) c.771T>G (p.Pro257=) c.492T>G (p.Pro164=) | gnomAD v4 |
10 | g.124400907A>G | CA471762638 | OAT | c.1092T>C (p.Pro364=) n.602T>C c.678T>C (p.Pro226=) c.771T>C (p.Pro257=) c.492T>C (p.Pro164=) | |
10 | g.124400907A>T | CA471762637 | OAT | c.1092T>A (p.Pro364=) n.602T>A c.678T>A (p.Pro226=) c.771T>A (p.Pro257=) c.492T>A (p.Pro164=) | gnomAD v4 |
10 | g.124400908G>A | CA378633640 | OAT | c.1091C>T (p.Pro364Leu) n.601C>T c.677C>T (p.Pro226Leu) c.770C>T (p.Pro257Leu) c.491C>T (p.Pro164Leu) | |
10 | g.124400908G>C | CA378633641 | OAT | c.1091C>G (p.Pro364Arg) n.601C>G c.677C>G (p.Pro226Arg) c.770C>G (p.Pro257Arg) c.491C>G (p.Pro164Arg) | |
10 | g.124400908G>T | CA378633642 | OAT | c.1091C>A (p.Pro364His) n.601C>A c.677C>A (p.Pro226His) c.770C>A (p.Pro257His) c.491C>A (p.Pro164His) | |
10 | g.124400909G>A | CA378633643 | OAT | c.1090C>T (p.Pro364Ser) n.600C>T c.676C>T (p.Pro226Ser) c.769C>T (p.Pro257Ser) c.490C>T (p.Pro164Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124400909G>C | CA378633644 | OAT | c.1090C>G (p.Pro364Ala) n.600C>G c.676C>G (p.Pro226Ala) c.769C>G (p.Pro257Ala) c.490C>G (p.Pro164Ala) | |
10 | g.124400909G= | CA1942337021 | OAT | c.1090C= (p.Pro364=) n.600C= c.676C= (p.Pro226=) c.769C= (p.Pro257=) c.490C= (p.Pro164=) | |
10 | g.124400909G>T | CA378633645 | OAT | c.1090C>A (p.Pro364Thr) n.600C>A c.676C>A (p.Pro226Thr) c.769C>A (p.Pro257Thr) c.490C>A (p.Pro164Thr) | |
10 | g.124400910T>A | CA471762643 | OAT | c.1089A>T (p.Leu363=) n.599A>T c.675A>T (p.Leu225=) c.768A>T (p.Leu256=) c.489A>T (p.Leu163=) | ClinVar dbSNP |
10 | g.124400910T>C | CA471762642 | OAT | c.1089A>G (p.Leu363=) n.599A>G c.675A>G (p.Leu225=) c.768A>G (p.Leu256=) c.489A>G (p.Leu163=) | |
10 | g.124400910T>G | CA471762641 | OAT | c.1089A>C (p.Leu363=) n.599A>C c.675A>C (p.Leu225=) c.768A>C (p.Leu256=) c.489A>C (p.Leu163=) | dbSNP |
10 | g.124400910T= | CA1942337022 | OAT | c.1089A= (p.Leu363=) n.599A= c.675A= (p.Leu225=) c.768A= (p.Leu256=) c.489A= (p.Leu163=) | |
10 | g.124400911A= | CA1942337023 | OAT | c.1088T= (p.Leu363=) n.598T= c.674T= (p.Leu225=) c.767T= (p.Leu256=) c.488T= (p.Leu163=) | |
10 | g.124400911A>C | CA378633647 | OAT | c.1088T>G (p.Leu363Arg) n.598T>G c.674T>G (p.Leu225Arg) c.767T>G (p.Leu256Arg) c.488T>G (p.Leu163Arg) | |
10 | g.124400911A>G | CA378633648 | OAT | c.1088T>C (p.Leu363Pro) n.598T>C c.674T>C (p.Leu225Pro) c.767T>C (p.Leu256Pro) c.488T>C (p.Leu163Pro) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.124400911A>T | CA378633646 | OAT | c.1088T>A (p.Leu363Gln) n.598T>A c.674T>A (p.Leu225Gln) c.767T>A (p.Leu256Gln) c.488T>A (p.Leu163Gln) | |
10 | g.124400912G>A | CA471762644 | OAT | c.1087C>T (p.Leu363=) n.597C>T c.673C>T (p.Leu225=) c.766C>T (p.Leu256=) c.487C>T (p.Leu163=) | |
10 | g.124400912G>C | CA378633649 | OAT | c.1087C>G (p.Leu363Val) n.597C>G c.673C>G (p.Leu225Val) c.766C>G (p.Leu256Val) c.487C>G (p.Leu163Val) | |
10 | g.124400912G>T | CA378633650 | OAT | c.1087C>A (p.Leu363Ile) n.597C>A c.673C>A (p.Leu225Ile) c.766C>A (p.Leu256Ile) c.487C>A (p.Leu163Ile) | gnomAD v4 |
10 | g.124400913C>A | CA378633651 | OAT | c.1086G>T (p.Lys362Asn) n.596G>T c.672G>T (p.Lys224Asn) c.765G>T (p.Lys255Asn) c.486G>T (p.Lys162Asn) | |
10 | g.124400913C>G | CA378633652 | OAT | c.1086G>C (p.Lys362Asn) n.596G>C c.672G>C (p.Lys224Asn) c.765G>C (p.Lys255Asn) c.486G>C (p.Lys162Asn) | |
10 | g.124400913C>T | CA471762645 | OAT | c.1086G>A (p.Lys362=) n.596G>A c.672G>A (p.Lys224=) c.765G>A (p.Lys255=) c.486G>A (p.Lys162=) | gnomAD v4 |
10 | g.124400914T>A | CA378633654 | OAT | c.1085A>T (p.Lys362Met) n.595A>T c.671A>T (p.Lys224Met) c.764A>T (p.Lys255Met) c.485A>T (p.Lys162Met) | |
10 | g.124400914T>C | CA215245078 | OAT | c.1085A>G (p.Lys362Arg) n.595A>G c.671A>G (p.Lys224Arg) c.764A>G (p.Lys255Arg) c.485A>G (p.Lys162Arg) | dbSNP |
10 | g.124400914T>G | CA378633653 | OAT | c.1085A>C (p.Lys362Thr) n.595A>C c.671A>C (p.Lys224Thr) c.764A>C (p.Lys255Thr) c.485A>C (p.Lys162Thr) | |
10 | g.124400914T= | CA1942337024 | OAT | c.1085A= (p.Lys362=) n.595A= c.671A= (p.Lys224=) c.764A= (p.Lys255=) c.485A= (p.Lys162=) | |
10 | g.124400915T>A | CA378633655 | OAT | c.1084A>T (p.Lys362Ter) n.594A>T c.670A>T (p.Lys224Ter) c.763A>T (p.Lys255Ter) c.484A>T (p.Lys162Ter) | |
10 | g.124400915T>C | CA378633656 | OAT | c.1084A>G (p.Lys362Glu) n.594A>G c.670A>G (p.Lys224Glu) c.763A>G (p.Lys255Glu) c.484A>G (p.Lys162Glu) | ClinVar dbSNP |
10 | g.124400915T>G | CA378633657 | OAT | c.1084A>C (p.Lys362Gln) n.594A>C c.670A>C (p.Lys224Gln) c.763A>C (p.Lys255Gln) c.484A>C (p.Lys162Gln) | |
10 | g.124400916C>A | CA378633658 | OAT | c.1083G>T (p.Met361Ile) n.593G>T c.669G>T (p.Met223Ile) c.762G>T (p.Met254Ile) c.483G>T (p.Met161Ile) | |
10 | g.124400916C>G | CA378633659 | OAT | c.1083G>C (p.Met361Ile) n.593G>C c.669G>C (p.Met223Ile) c.762G>C (p.Met254Ile) c.483G>C (p.Met161Ile) | |
10 | g.124400916C>T | CA378633660 | OAT | c.1083G>A (p.Met361Ile) n.593G>A c.669G>A (p.Met223Ile) c.762G>A (p.Met254Ile) c.483G>A (p.Met161Ile) | COSMIC |
10 | g.124400917A>C | CA378633661 | OAT | c.1082T>G (p.Met361Arg) n.592T>G c.668T>G (p.Met223Arg) c.761T>G (p.Met254Arg) c.482T>G (p.Met161Arg) | |
10 | g.124400917A>G | CA378633663 | OAT | c.1082T>C (p.Met361Thr) n.592T>C c.668T>C (p.Met223Thr) c.761T>C (p.Met254Thr) c.482T>C (p.Met161Thr) | |
10 | g.124400917A>T | CA378633662 | OAT | c.1082T>A (p.Met361Lys) n.592T>A c.668T>A (p.Met223Lys) c.761T>A (p.Met254Lys) c.482T>A (p.Met161Lys) | |
10 | g.124400918T>A | CA378633664 | OAT | c.1081A>T (p.Met361Leu) n.591A>T c.667A>T (p.Met223Leu) c.760A>T (p.Met254Leu) c.481A>T (p.Met161Leu) | |
10 | g.124400918T>C | CA378633666 | OAT | c.1081A>G (p.Met361Val) n.591A>G c.667A>G (p.Met223Val) c.760A>G (p.Met254Val) c.481A>G (p.Met161Val) | |
10 | g.124400918T>G | CA378633665 | OAT | c.1081A>C (p.Met361Leu) n.591A>C c.667A>C (p.Met223Leu) c.760A>C (p.Met254Leu) c.481A>C (p.Met161Leu) | |
10 | g.124400919G>A | CA471762646 | OAT | c.1080C>T (p.Leu360=) n.590C>T c.666C>T (p.Leu222=) c.759C>T (p.Leu253=) c.480C>T (p.Leu160=) | |
10 | g.124400919G>C | CA215245085 | OAT | c.1080C>G (p.Leu360=) n.590C>G c.666C>G (p.Leu222=) c.759C>G (p.Leu253=) c.480C>G (p.Leu160=) | ClinVar dbSNP |
10 | g.124400919G= | CA1942337025 | OAT | c.1080C= (p.Leu360=) n.590C= c.666C= (p.Leu222=) c.759C= (p.Leu253=) c.480C= (p.Leu160=) | |
10 | g.124400919G>T | CA471762647 | OAT | c.1080C>A (p.Leu360=) n.590C>A c.666C>A (p.Leu222=) c.759C>A (p.Leu253=) c.480C>A (p.Leu160=) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.124400920A>C | CA378633668 | OAT | c.1079T>G (p.Leu360Arg) n.589T>G c.665T>G (p.Leu222Arg) c.758T>G (p.Leu253Arg) c.479T>G (p.Leu160Arg) | |
10 | g.124400920A>G | CA378633667 | OAT | c.1079T>C (p.Leu360Pro) n.589T>C c.665T>C (p.Leu222Pro) c.758T>C (p.Leu253Pro) c.479T>C (p.Leu160Pro) | |
10 | g.124400920A>T | CA378633669 | OAT | c.1079T>A (p.Leu360His) n.589T>A c.665T>A (p.Leu222His) c.758T>A (p.Leu253His) c.479T>A (p.Leu160His) | |
10 | g.124400920_124400921delinsAG | CA1942337026 | OAT | c.1078_1079delinsCT (p.Leu360=) n.588_589delinsCT c.664_665delinsCT (p.Leu222=) c.757_758delinsCT (p.Leu253=) c.478_479delinsCT (p.Leu160=) | |
10 | g.124400921del | CA1139661718 | OAT | c.1078del (p.Leu360SerfsTer2) n.588del c.664del (p.Leu222SerfsTer2) c.757del (p.Leu253SerfsTer2) c.478del (p.Leu160SerfsTer2) | ClinVar dbSNP |
10 | g.124400921G>A | CA378633670 | OAT | c.1078C>T (p.Leu360Phe) n.588C>T c.664C>T (p.Leu222Phe) c.757C>T (p.Leu253Phe) c.478C>T (p.Leu160Phe) | |
10 | g.124400921G>C | CA378633671 | OAT | c.1078C>G (p.Leu360Val) n.588C>G c.664C>G (p.Leu222Val) c.757C>G (p.Leu253Val) c.478C>G (p.Leu160Val) | |
10 | g.124400921G>T | CA378633672 | OAT | c.1078C>A (p.Leu360Ile) n.588C>A c.664C>A (p.Leu222Ile) c.757C>A (p.Leu253Ile) c.478C>A (p.Leu160Ile) | |
10 | g.124400922T>A | CA378633673 | OAT | c.1077A>T (p.Glu359Asp) n.587A>T c.663A>T (p.Glu221Asp) c.756A>T (p.Glu252Asp) c.477A>T (p.Glu159Asp) | |
10 | g.124400922T>C | CA471762649 | OAT | c.1077A>G (p.Glu359=) n.587A>G c.663A>G (p.Glu221=) c.756A>G (p.Glu252=) c.477A>G (p.Glu159=) | ClinVar dbSNP gnomAD v4 |
10 | g.124400922T>G | CA378633674 | OAT | c.1077A>C (p.Glu359Asp) n.587A>C c.663A>C (p.Glu221Asp) c.756A>C (p.Glu252Asp) c.477A>C (p.Glu159Asp) | |
10 | g.124400923T>A | CA378633675 | OAT | c.1076A>T (p.Glu359Val) n.586A>T c.662A>T (p.Glu221Val) c.755A>T (p.Glu252Val) c.476A>T (p.Glu159Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124400923T>C | CA378633676 | OAT | c.1076A>G (p.Glu359Gly) n.586A>G c.662A>G (p.Glu221Gly) c.755A>G (p.Glu252Gly) c.476A>G (p.Glu159Gly) | ClinVar dbSNP gnomAD v4 |
10 | g.124400923T>G | CA378633677 | OAT | c.1076A>C (p.Glu359Ala) n.586A>C c.662A>C (p.Glu221Ala) c.755A>C (p.Glu252Ala) c.476A>C (p.Glu159Ala) | |
10 | g.124400923T= | CA1942337027 | OAT | c.1076A= (p.Glu359=) n.586A= c.662A= (p.Glu221=) c.755A= (p.Glu252=) c.476A= (p.Glu159=) | |
10 | g.124400924C>A | CA378633678 | OAT | c.1075G>T (p.Glu359Ter) n.585G>T c.661G>T (p.Glu221Ter) c.754G>T (p.Glu252Ter) c.475G>T (p.Glu159Ter) | |
10 | g.124400924C>G | CA378633679 | OAT | c.1075G>C (p.Glu359Gln) n.585G>C c.661G>C (p.Glu221Gln) c.754G>C (p.Glu252Gln) c.475G>C (p.Glu159Gln) | |
10 | g.124400924C>T | CA378633680 | OAT | c.1075G>A (p.Glu359Lys) n.585G>A c.661G>A (p.Glu221Lys) c.754G>A (p.Glu252Lys) c.475G>A (p.Glu159Lys) | |
10 | g.124400925A>C | CA378633681 | OAT | c.1074T>G (p.Asn358Lys) n.584T>G c.660T>G (p.Asn220Lys) c.753T>G (p.Asn251Lys) c.474T>G (p.Asn158Lys) | |
10 | g.124400925A>G | CA471762650 | OAT | c.1074T>C (p.Asn358=) n.584T>C c.660T>C (p.Asn220=) c.753T>C (p.Asn251=) c.474T>C (p.Asn158=) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.124400925A>T | CA378633682 | OAT | c.1074T>A (p.Asn358Lys) n.584T>A c.660T>A (p.Asn220Lys) c.753T>A (p.Asn251Lys) c.474T>A (p.Asn158Lys) | |
10 | g.124400926T>A | CA378633685 | OAT | c.1073A>T (p.Asn358Ile) n.583A>T c.659A>T (p.Asn220Ile) c.752A>T (p.Asn251Ile) c.473A>T (p.Asn158Ile) | |
10 | g.124400926T>C | CA378633683 | OAT | c.1073A>G (p.Asn358Ser) n.583A>G c.659A>G (p.Asn220Ser) c.752A>G (p.Asn251Ser) c.473A>G (p.Asn158Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.124400926T>G | CA378633684 | OAT | c.1073A>C (p.Asn358Thr) n.583A>C c.659A>C (p.Asn220Thr) c.752A>C (p.Asn251Thr) c.473A>C (p.Asn158Thr) | |
10 | g.124400926T= | CA1942337028 | OAT | c.1073A= (p.Asn358=) n.583A= c.659A= (p.Asn220=) c.752A= (p.Asn251=) c.473A= (p.Asn158=) | |
10 | g.124400927T>A | CA378633686 | OAT | c.1072A>T (p.Asn358Tyr) n.582A>T c.658A>T (p.Asn220Tyr) c.751A>T (p.Asn251Tyr) c.472A>T (p.Asn158Tyr) | |
10 | g.124400927T>C | CA5733336 | OAT | c.1072A>G (p.Asn358Asp) n.582A>G c.658A>G (p.Asn220Asp) c.751A>G (p.Asn251Asp) c.472A>G (p.Asn158Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124400927T>G | CA378633687 | OAT | c.1072A>C (p.Asn358His) n.582A>C c.658A>C (p.Asn220His) c.751A>C (p.Asn251His) c.472A>C (p.Asn158His) | |
10 | g.124400927T= | CA1942337029 | OAT | c.1072A= (p.Asn358=) n.582A= c.658A= (p.Asn220=) c.751A= (p.Asn251=) c.472A= (p.Asn158=) | |
10 | g.124400928T>A | CA378633688 | OAT | c.1071A>T (p.Arg357Ser) n.581A>T c.657A>T (p.Arg219Ser) c.750A>T (p.Arg250Ser) c.471A>T (p.Arg157Ser) | |
10 | g.124400928T>C | CA471762651 | OAT | c.1071A>G (p.Arg357=) n.581A>G c.657A>G (p.Arg219=) c.750A>G (p.Arg250=) c.471A>G (p.Arg157=) | gnomAD v4 |
10 | g.124400928T>G | CA378633689 | OAT | c.1071A>C (p.Arg357Ser) n.581A>C c.657A>C (p.Arg219Ser) c.750A>C (p.Arg250Ser) c.471A>C (p.Arg157Ser) | |
10 | g.124400929C>A | CA378633690 | OAT | c.1070G>T (p.Arg357Ile) n.580G>T c.656G>T (p.Arg219Ile) c.749G>T (p.Arg250Ile) c.470G>T (p.Arg157Ile) | |
10 | g.124400929C>G | CA378633691 | OAT | c.1070G>C (p.Arg357Thr) n.580G>C c.656G>C (p.Arg219Thr) c.749G>C (p.Arg250Thr) c.470G>C (p.Arg157Thr) | |
10 | g.124400929C>T | CA378633692 | OAT | c.1070G>A (p.Arg357Lys) n.580G>A c.656G>A (p.Arg219Lys) c.749G>A (p.Arg250Lys) c.470G>A (p.Arg157Lys) | |
10 | g.124400930T>A | CA378633693 | OAT | c.1069A>T (p.Arg357Ter) n.579A>T c.655A>T (p.Arg219Ter) c.748A>T (p.Arg250Ter) c.469A>T (p.Arg157Ter) | |
10 | g.124400930T>C | CA378633694 | OAT | c.1069A>G (p.Arg357Gly) n.579A>G c.655A>G (p.Arg219Gly) c.748A>G (p.Arg250Gly) c.469A>G (p.Arg157Gly) | |
10 | g.124400930T>G | CA471762652 | OAT | c.1069A>C (p.Arg357=) n.579A>C c.655A>C (p.Arg219=) c.748A>C (p.Arg250=) c.469A>C (p.Arg157=) | |
10 | g.124400931C>A | CA5733337 | OAT | c.1068G>T (p.Leu356Phe) n.578G>T c.654G>T (p.Leu218Phe) c.747G>T (p.Leu249Phe) c.468G>T (p.Leu156Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.124400931C= | CA1942337030 | OAT | c.1068G= (p.Leu356=) n.578G= c.654G= (p.Leu218=) c.747G= (p.Leu249=) c.468G= (p.Leu156=) | |
10 | g.124400931C>G | CA378633695 | OAT | c.1068G>C (p.Leu356Phe) n.578G>C c.654G>C (p.Leu218Phe) c.747G>C (p.Leu249Phe) c.468G>C (p.Leu156Phe) | |
10 | g.124400931C>T | CA471762653 | OAT | c.1068G>A (p.Leu356=) n.578G>A c.654G>A (p.Leu218=) c.747G>A (p.Leu249=) c.468G>A (p.Leu156=) | |
10 | g.124400932A>C | CA378633696 | OAT | c.1067T>G (p.Leu356Trp) n.577T>G c.653T>G (p.Leu218Trp) c.746T>G (p.Leu249Trp) c.467T>G (p.Leu156Trp) | |
10 | g.124400932A>G | CA378633698 | OAT | c.1067T>C (p.Leu356Ser) n.577T>C c.653T>C (p.Leu218Ser) c.746T>C (p.Leu249Ser) c.467T>C (p.Leu156Ser) | |
10 | g.124400932A>T | CA378633697 | OAT | c.1067T>A (p.Leu356Ter) n.577T>A c.653T>A (p.Leu218Ter) c.746T>A (p.Leu249Ter) c.467T>A (p.Leu156Ter) | |
10 | g.124400933A>C | CA378633699 | OAT | c.1066T>G (p.Leu356Val) n.576T>G c.652T>G (p.Leu218Val) c.745T>G (p.Leu249Val) c.466T>G (p.Leu156Val) | |
10 | g.124400933A>G | CA471762654 | OAT | c.1066T>C (p.Leu356=) n.576T>C c.652T>C (p.Leu218=) c.745T>C (p.Leu249=) c.466T>C (p.Leu156=) | |
10 | g.124400933A>T | CA378633700 | OAT | c.1066T>A (p.Leu356Met) n.576T>A c.652T>A (p.Leu218Met) c.745T>A (p.Leu249Met) c.466T>A (p.Leu156Met) | |
10 | g.124400934G>A | CA471762656 | OAT | c.1065C>T (p.Ile355=) n.575C>T c.651C>T (p.Ile217=) c.744C>T (p.Ile248=) c.465C>T (p.Ile155=) | |
10 | g.124400934G>C | CA378633701 | OAT | c.1065C>G (p.Ile355Met) n.575C>G c.651C>G (p.Ile217Met) c.744C>G (p.Ile248Met) c.465C>G (p.Ile155Met) | |
10 | g.124400934G>T | CA471762655 | OAT | c.1065C>A (p.Ile355=) n.575C>A c.651C>A (p.Ile217=) c.744C>A (p.Ile248=) c.465C>A (p.Ile155=) | |
10 | g.124400935A>C | CA378633702 | OAT | c.1064T>G (p.Ile355Ser) n.574T>G c.650T>G (p.Ile217Ser) c.743T>G (p.Ile248Ser) c.464T>G (p.Ile155Ser) | gnomAD v4 |
10 | g.124400935A>G | CA378633703 | OAT | c.1064T>C (p.Ile355Thr) n.574T>C c.650T>C (p.Ile217Thr) c.743T>C (p.Ile248Thr) c.464T>C (p.Ile155Thr) | |
10 | g.124400935A>T | CA378633704 | OAT | c.1064T>A (p.Ile355Asn) n.574T>A c.650T>A (p.Ile217Asn) c.743T>A (p.Ile248Asn) c.464T>A (p.Ile155Asn) | |
10 | g.124400936T>A | CA378633705 | OAT | c.1063A>T (p.Ile355Phe) n.573A>T c.649A>T (p.Ile217Phe) c.742A>T (p.Ile248Phe) c.463A>T (p.Ile155Phe) | |
10 | g.124400936T>C | CA378633706 | OAT | c.1063A>G (p.Ile355Val) n.573A>G c.649A>G (p.Ile217Val) c.742A>G (p.Ile248Val) c.463A>G (p.Ile155Val) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.124400936T>G | CA378633707 | OAT | c.1063A>C (p.Ile355Leu) n.573A>C c.649A>C (p.Ile217Leu) c.742A>C (p.Ile248Leu) c.463A>C (p.Ile155Leu) | |
10 | g.124400936T= | CA1942337031 | OAT | c.1063A= (p.Ile355=) n.573A= c.649A= (p.Ile217=) c.742A= (p.Ile248=) c.463A= (p.Ile155=) | |
10 | g.124400937A>C | CA378633708 | OAT | c.1062T>G (p.Ile354Met) n.572T>G c.648T>G (p.Ile216Met) c.741T>G (p.Ile247Met) c.462T>G (p.Ile154Met) | |
10 | g.124400937A>G | CA471762657 | OAT | c.1062T>C (p.Ile354=) n.572T>C c.648T>C (p.Ile216=) c.741T>C (p.Ile247=) c.462T>C (p.Ile154=) | |
10 | g.124400937A>T | CA471762658 | OAT | c.1062T>A (p.Ile354=) n.572T>A c.648T>A (p.Ile216=) c.741T>A (p.Ile247=) c.462T>A (p.Ile154=) | |
10 | g.124400938A>C | CA378633709 | OAT | c.1061T>G (p.Ile354Ser) n.571T>G c.647T>G (p.Ile216Ser) c.740T>G (p.Ile247Ser) c.461T>G (p.Ile154Ser) | |
10 | g.124400938A>G | CA378633710 | OAT | c.1061T>C (p.Ile354Thr) n.571T>C c.647T>C (p.Ile216Thr) c.740T>C (p.Ile247Thr) c.461T>C (p.Ile154Thr) | |
10 | g.124400938A>T | CA378633711 | OAT | c.1061T>A (p.Ile354Asn) n.571T>A c.647T>A (p.Ile216Asn) c.740T>A (p.Ile247Asn) c.461T>A (p.Ile154Asn) | |
10 | g.124400939T>A | CA378633712 | OAT | c.1060A>T (p.Ile354Phe) n.570A>T c.646A>T (p.Ile216Phe) c.739A>T (p.Ile247Phe) c.460A>T (p.Ile154Phe) | |
10 | g.124400939T>C | CA378633714 | OAT | c.1060A>G (p.Ile354Val) n.570A>G c.646A>G (p.Ile216Val) c.739A>G (p.Ile247Val) c.460A>G (p.Ile154Val) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.124400939T>G | CA378633713 | OAT | c.1060A>C (p.Ile354Leu) n.570A>C c.646A>C (p.Ile216Leu) c.739A>C (p.Ile247Leu) c.460A>C (p.Ile154Leu) | |
10 | g.124400939T= | CA1942337032 | OAT | c.1060A= (p.Ile354=) n.570A= c.646A= (p.Ile216=) c.739A= (p.Ile247=) c.460A= (p.Ile154=) | |
10 | g.124400940G>A | CA5733338 | OAT | c.1059C>T (p.Gly353=) n.569C>T c.645C>T (p.Gly215=) c.738C>T (p.Gly246=) c.459C>T (p.Gly153=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.124400940G>C | CA471762660 | OAT | c.1059C>G (p.Gly353=) n.569C>G c.645C>G (p.Gly215=) c.738C>G (p.Gly246=) c.459C>G (p.Gly153=) | gnomAD v4 |
10 | g.124400940G= | CA1942337033 | OAT | c.1059C= (p.Gly353=) n.569C= c.645C= (p.Gly215=) c.738C= (p.Gly246=) c.459C= (p.Gly153=) | |
10 | g.124400940G>T | CA471762659 | OAT | c.1059C>A (p.Gly353=) n.569C>A c.645C>A (p.Gly215=) c.738C>A (p.Gly246=) c.459C>A (p.Gly153=) | gnomAD v4 |
10 | g.124400941C>A | CA378633715 | OAT | c.1058G>T (p.Gly353Val) n.568G>T c.644G>T (p.Gly215Val) c.737G>T (p.Gly246Val) c.458G>T (p.Gly153Val) | gnomAD v4 |
10 | g.124400941C= | CA1942337034 | OAT | c.1058G= (p.Gly353=) n.568G= c.644G= (p.Gly215=) c.737G= (p.Gly246=) c.458G= (p.Gly153=) | |
10 | g.124400941C>G | CA378633716 | OAT | c.1058G>C (p.Gly353Ala) n.568G>C c.644G>C (p.Gly215Ala) c.737G>C (p.Gly246Ala) c.458G>C (p.Gly153Ala) | |
10 | g.124400941C>T | CA113981 | OAT | c.1058G>A (p.Gly353Asp) n.568G>A c.644G>A (p.Gly215Asp) c.737G>A (p.Gly246Asp) c.458G>A (p.Gly153Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124400942C>A | CA378633717 | OAT | c.1057G>T (p.Gly353Cys) n.567G>T c.643G>T (p.Gly215Cys) c.736G>T (p.Gly246Cys) c.457G>T (p.Gly153Cys) | |
10 | g.124400942C>G | CA378633718 | OAT | c.1057G>C (p.Gly353Arg) n.567G>C c.643G>C (p.Gly215Arg) c.736G>C (p.Gly246Arg) c.457G>C (p.Gly153Arg) | |
10 | g.124400942C>T | CA378633719 | OAT | c.1057G>A (p.Gly353Ser) n.567G>A c.643G>A (p.Gly215Ser) c.736G>A (p.Gly246Ser) c.457G>A (p.Gly153Ser) | |
10 | g.124400943C>A | CA378633720 | OAT | c.1056G>T (p.Leu352Phe) n.566G>T c.642G>T (p.Leu214Phe) c.735G>T (p.Leu245Phe) c.456G>T (p.Leu152Phe) | gnomAD v4 |
10 | g.124400943C= | CA1942337035 | OAT | c.1056G= (p.Leu352=) n.566G= c.642G= (p.Leu214=) c.735G= (p.Leu245=) c.456G= (p.Leu152=) | |
10 | g.124400943C>G | CA378633721 | OAT | c.1056G>C (p.Leu352Phe) n.566G>C c.642G>C (p.Leu214Phe) c.735G>C (p.Leu245Phe) c.456G>C (p.Leu152Phe) | ClinVar dbSNP |
10 | g.124400943C>T | CA5733339 | OAT | c.1056G>A (p.Leu352=) n.566G>A c.642G>A (p.Leu214=) c.735G>A (p.Leu245=) c.456G>A (p.Leu152=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.124400944A= | CA1942337036 | OAT | c.1055T= (p.Leu352=) n.565T= c.641T= (p.Leu214=) c.734T= (p.Leu245=) c.455T= (p.Leu152=) | |
10 | g.124400944A>C | CA378633723 | OAT | c.1055T>G (p.Leu352Trp) n.565T>G c.641T>G (p.Leu214Trp) c.734T>G (p.Leu245Trp) c.455T>G (p.Leu152Trp) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.124400944A>G | CA215245104 | OAT | c.1055T>C (p.Leu352Ser) n.565T>C c.641T>C (p.Leu214Ser) c.734T>C (p.Leu245Ser) c.455T>C (p.Leu152Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.124400944A>T | CA378633722 | OAT | c.1055T>A (p.Leu352Ter) n.565T>A c.641T>A (p.Leu214Ter) c.734T>A (p.Leu245Ter) c.455T>A (p.Leu152Ter) | gnomAD v4 |
10 | g.124400945A>C | CA378633725 | OAT | c.1054T>G (p.Leu352Val) n.564T>G c.640T>G (p.Leu214Val) c.733T>G (p.Leu245Val) c.454T>G (p.Leu152Val) | |
10 | g.124400945A>G | CA471762661 | OAT | c.1054T>C (p.Leu352=) n.564T>C c.640T>C (p.Leu214=) c.733T>C (p.Leu245=) c.454T>C (p.Leu152=) | |
10 | g.124400945A>T | CA378633724 | OAT | c.1054T>A (p.Leu352Met) n.564T>A c.640T>A (p.Leu214Met) c.733T>A (p.Leu245Met) c.454T>A (p.Leu152Met) | |
10 | g.124400946T>A | CA215245116 | OAT | c.1053A>T (p.Lys351Asn) n.563A>T c.639A>T (p.Lys213Asn) c.732A>T (p.Lys244Asn) c.453A>T (p.Lys151Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124400946T>C | CA5733340 | OAT | c.1053A>G (p.Lys351=) n.563A>G c.639A>G (p.Lys213=) c.732A>G (p.Lys244=) c.453A>G (p.Lys151=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
10 | g.124400946T>G | CA378633726 | OAT | c.1053A>C (p.Lys351Asn) n.563A>C c.639A>C (p.Lys213Asn) c.732A>C (p.Lys244Asn) c.453A>C (p.Lys151Asn) | |
10 | g.124400946T= | CA1942337037 | OAT | c.1053A= (p.Lys351=) n.563A= c.639A= (p.Lys213=) c.732A= (p.Lys244=) c.453A= (p.Lys151=) | |
10 | g.124400947T>A | CA378633727 | OAT | c.1052A>T (p.Lys351Ile) n.562A>T c.638A>T (p.Lys213Ile) c.731A>T (p.Lys244Ile) c.452A>T (p.Lys151Ile) | |
10 | g.124400947T>C | CA378633728 | OAT | c.1052A>G (p.Lys351Arg) n.562A>G c.638A>G (p.Lys213Arg) c.731A>G (p.Lys244Arg) c.452A>G (p.Lys151Arg) | |
10 | g.124400947T>G | CA378633729 | OAT | c.1052A>C (p.Lys351Thr) n.562A>C c.638A>C (p.Lys213Thr) c.731A>C (p.Lys244Thr) c.452A>C (p.Lys151Thr) | |
10 | g.124400948T>A | CA378633730 | OAT | c.1051A>T (p.Lys351Ter) n.561A>T c.637A>T (p.Lys213Ter) c.730A>T (p.Lys244Ter) c.451A>T (p.Lys151Ter) | |
10 | g.124400948T>C | CA378633731 | OAT | c.1051A>G (p.Lys351Glu) n.561A>G c.637A>G (p.Lys213Glu) c.730A>G (p.Lys244Glu) c.451A>G (p.Lys151Glu) | |
10 | g.124400948T>G | CA378633732 | OAT | c.1051A>C (p.Lys351Gln) n.561A>C c.637A>C (p.Lys213Gln) c.730A>C (p.Lys244Gln) c.451A>C (p.Lys151Gln) | |
10 | g.124400950_124400953del | CA2574699277 | OAT | c.1048_1051del (p.Asp350AsnfsTer6) n.558_561del c.634_637del (p.Asp212AsnfsTer6) c.727_730del (p.Asp243AsnfsTer6) c.448_451del (p.Asp150AsnfsTer6) | |
10 | g.124400949G>A | CA471762662 | OAT | c.1050C>T (p.Asp350=) n.560C>T c.636C>T (p.Asp212=) c.729C>T (p.Asp243=) c.450C>T (p.Asp150=) | ClinVar dbSNP gnomAD v4 |
10 | g.124400949G>C | CA378633733 | OAT | c.1050C>G (p.Asp350Glu) n.560C>G c.636C>G (p.Asp212Glu) c.729C>G (p.Asp243Glu) c.450C>G (p.Asp150Glu) | |
10 | g.124400949G>T | CA378633734 | OAT | c.1050C>A (p.Asp350Glu) n.560C>A c.636C>A (p.Asp212Glu) c.729C>A (p.Asp243Glu) c.450C>A (p.Asp150Glu) | |
10 | g.124400950T>A | CA378633737 | OAT | c.1049A>T (p.Asp350Val) n.559A>T c.635A>T (p.Asp212Val) c.728A>T (p.Asp243Val) c.449A>T (p.Asp150Val) | |
10 | g.124400950T>C | CA378633735 | OAT | c.1049A>G (p.Asp350Gly) n.559A>G c.635A>G (p.Asp212Gly) c.728A>G (p.Asp243Gly) c.449A>G (p.Asp150Gly) | |
10 | g.124400950T>G | CA378633736 | OAT | c.1049A>C (p.Asp350Ala) n.559A>C c.635A>C (p.Asp212Ala) c.728A>C (p.Asp243Ala) c.449A>C (p.Asp150Ala) | |
10 | g.124400951C>A | CA378633738 | OAT | c.1048G>T (p.Asp350Tyr) n.558G>T c.634G>T (p.Asp212Tyr) c.727G>T (p.Asp243Tyr) c.448G>T (p.Asp150Tyr) | |
10 | g.124400951C= | CA1942337038 | OAT | c.1048G= (p.Asp350=) n.558G= c.634G= (p.Asp212=) c.727G= (p.Asp243=) c.448G= (p.Asp150=) | |
10 | g.124400951C>G | CA378633739 | OAT | c.1048G>C (p.Asp350His) n.558G>C c.634G>C (p.Asp212His) c.727G>C (p.Asp243His) c.448G>C (p.Asp150His) | |
10 | g.124400951C>T | CA215245130 | OAT | c.1048G>A (p.Asp350Asn) n.558G>A c.634G>A (p.Asp212Asn) c.727G>A (p.Asp243Asn) c.448G>A (p.Asp150Asn) | dbSNP gnomAD v4 |
10 | g.124400952del | CA2611307416 | OAT | c.1047del (p.Asp350ThrfsTer7) n.557del c.633del (p.Asp212ThrfsTer7) c.726del (p.Asp243ThrfsTer7) c.447del (p.Asp150ThrfsTer7) | gnomAD v4 |
10 | g.124400952T>A | CA471762663 | OAT | c.1047A>T (p.Ala349=) n.557A>T c.633A>T (p.Ala211=) c.726A>T (p.Ala242=) c.447A>T (p.Ala149=) | |
10 | g.124400952T>C | CA471762664 | OAT | c.1047A>G (p.Ala349=) n.557A>G c.633A>G (p.Ala211=) c.726A>G (p.Ala242=) c.447A>G (p.Ala149=) | gnomAD v4 |
10 | g.124400952T>G | CA471762665 | OAT | c.1047A>C (p.Ala349=) n.557A>C c.633A>C (p.Ala211=) c.726A>C (p.Ala242=) c.447A>C (p.Ala149=) | |
10 | g.124400953G>A | CA378633740 | OAT | c.1046C>T (p.Ala349Val) n.556C>T c.632C>T (p.Ala211Val) c.725C>T (p.Ala242Val) c.446C>T (p.Ala149Val) | gnomAD v4 |
10 | g.124400953G>C | CA215245141 | OAT | c.1046C>G (p.Ala349Gly) n.556C>G c.632C>G (p.Ala211Gly) c.725C>G (p.Ala242Gly) c.446C>G (p.Ala149Gly) | dbSNP |
10 | g.124400953G= | CA1942337039 | OAT | c.1046C= (p.Ala349=) n.556C= c.632C= (p.Ala211=) c.725C= (p.Ala242=) c.446C= (p.Ala149=) | |
10 | g.124400953G>T | CA378633741 | OAT | c.1046C>A (p.Ala349Glu) n.556C>A c.632C>A (p.Ala211Glu) c.725C>A (p.Ala242Glu) c.446C>A (p.Ala149Glu) | |
10 | g.124400954C>A | CA378633742 | OAT | c.1045G>T (p.Ala349Ser) n.555G>T c.631G>T (p.Ala211Ser) c.724G>T (p.Ala242Ser) c.445G>T (p.Ala149Ser) | |
10 | g.124400954C>G | CA378633743 | OAT | c.1045G>C (p.Ala349Pro) n.555G>C c.631G>C (p.Ala211Pro) c.724G>C (p.Ala242Pro) c.445G>C (p.Ala149Pro) | gnomAD v4 |
10 | g.124400954C>T | CA378633744 | OAT | c.1045G>A (p.Ala349Thr) n.555G>A c.631G>A (p.Ala211Thr) c.724G>A (p.Ala242Thr) c.445G>A (p.Ala149Thr) | gnomAD v4 |
10 | g.124400955A>C | CA378633745 | OAT | c.1044T>G (p.Asn348Lys) n.554T>G c.630T>G (p.Asn210Lys) c.723T>G (p.Asn241Lys) c.444T>G (p.Asn148Lys) | |
10 | g.124400955A>G | CA471762666 | OAT | c.1044T>C (p.Asn348=) n.554T>C c.630T>C (p.Asn210=) c.723T>C (p.Asn241=) c.444T>C (p.Asn148=) | |
10 | g.124400955A>T | CA378633746 | OAT | c.1044T>A (p.Asn348Lys) n.554T>A c.630T>A (p.Asn210Lys) c.723T>A (p.Asn241Lys) c.444T>A (p.Asn148Lys) | |
10 | g.124400956T>A | CA378633748 | OAT | c.1043A>T (p.Asn348Ile) n.553A>T c.629A>T (p.Asn210Ile) c.722A>T (p.Asn241Ile) c.443A>T (p.Asn148Ile) | |
10 | g.124400956T>C | CA378633749 | OAT | c.1043A>G (p.Asn348Ser) n.553A>G c.629A>G (p.Asn210Ser) c.722A>G (p.Asn241Ser) c.443A>G (p.Asn148Ser) | gnomAD v4 |
10 | g.124400956T>G | CA378633747 | OAT | c.1043A>C (p.Asn348Thr) n.553A>C c.629A>C (p.Asn210Thr) c.722A>C (p.Asn241Thr) c.443A>C (p.Asn148Thr) | |
10 | g.124400957T>A | CA378633750 | OAT | c.1042A>T (p.Asn348Tyr) n.552A>T c.628A>T (p.Asn210Tyr) c.721A>T (p.Asn241Tyr) c.442A>T (p.Asn148Tyr) | |
10 | g.124400957T>C | CA378633751 | OAT | c.1042A>G (p.Asn348Asp) n.552A>G c.628A>G (p.Asn210Asp) c.721A>G (p.Asn241Asp) c.442A>G (p.Asn148Asp) | |
10 | g.124400957T>G | CA378633752 | OAT | c.1042A>C (p.Asn348His) n.552A>C c.628A>C (p.Asn210His) c.721A>C (p.Asn241His) c.442A>C (p.Asn148His) | |
10 | g.124400958T>A | CA378633753 | OAT | c.1041A>T (p.Glu347Asp) n.551A>T c.627A>T (p.Glu209Asp) c.720A>T (p.Glu240Asp) c.441A>T (p.Glu147Asp) | |
10 | g.124400958T>C | CA471762667 | OAT | c.1041A>G (p.Glu347=) n.551A>G c.627A>G (p.Glu209=) c.720A>G (p.Glu240=) c.441A>G (p.Glu147=) | |
10 | g.124400958T>G | CA378633754 | OAT | c.1041A>C (p.Glu347Asp) n.551A>C c.627A>C (p.Glu209Asp) c.720A>C (p.Glu240Asp) c.441A>C (p.Glu147Asp) | |
10 | g.124400959T>A | CA378633757 | OAT | c.1040A>T (p.Glu347Val) n.550A>T c.626A>T (p.Glu209Val) c.719A>T (p.Glu240Val) c.440A>T (p.Glu147Val) | |
10 | g.124400959T>C | CA378633756 | OAT | c.1040A>G (p.Glu347Gly) n.550A>G c.626A>G (p.Glu209Gly) c.719A>G (p.Glu240Gly) c.440A>G (p.Glu147Gly) | |
10 | g.124400959T>G | CA378633755 | OAT | c.1040A>C (p.Glu347Ala) n.550A>C c.626A>C (p.Glu209Ala) c.719A>C (p.Glu240Ala) c.440A>C (p.Glu147Ala) | |
10 | g.124400960C>A | CA378633758 | OAT | c.1039G>T (p.Glu347Ter) n.549G>T c.625G>T (p.Glu209Ter) c.718G>T (p.Glu240Ter) c.439G>T (p.Glu147Ter) | |
10 | g.124400960C>G | CA378633759 | OAT | c.1039G>C (p.Glu347Gln) n.549G>C c.625G>C (p.Glu209Gln) c.718G>C (p.Glu240Gln) c.439G>C (p.Glu147Gln) | |
10 | g.124400960C>T | CA378633760 | OAT | c.1039G>A (p.Glu347Lys) n.549G>A c.625G>A (p.Glu209Lys) c.718G>A (p.Glu240Lys) c.439G>A (p.Glu147Lys) | ClinVar dbSNP |
10 | g.124400961A>C | CA471762670 | OAT | c.1038T>G (p.Ala346=) n.548T>G c.624T>G (p.Ala208=) c.717T>G (p.Ala239=) c.438T>G (p.Ala146=) | |
10 | g.124400961A>G | CA471762668 | OAT | c.1038T>C (p.Ala346=) n.548T>C c.624T>C (p.Ala208=) c.717T>C (p.Ala239=) c.438T>C (p.Ala146=) | |
10 | g.124400961A>T | CA471762669 | OAT | c.1038T>A (p.Ala346=) n.548T>A c.624T>A (p.Ala208=) c.717T>A (p.Ala239=) c.438T>A (p.Ala146=) | |
10 | g.124400962G>A | CA378633761 | OAT | c.1037C>T (p.Ala346Val) n.547C>T c.623C>T (p.Ala208Val) c.716C>T (p.Ala239Val) c.437C>T (p.Ala146Val) | COSMIC |
10 | g.124400962G>C | CA378633762 | OAT | c.1037C>G (p.Ala346Gly) n.547C>G c.623C>G (p.Ala208Gly) c.716C>G (p.Ala239Gly) c.437C>G (p.Ala146Gly) | |
10 | g.124400962G>T | CA378633763 | OAT | c.1037C>A (p.Ala346Asp) n.547C>A c.623C>A (p.Ala208Asp) c.716C>A (p.Ala239Asp) c.437C>A (p.Ala146Asp) | |
10 | g.124400963C>A | CA378633764 | OAT | c.1036G>T (p.Ala346Ser) n.546G>T c.622G>T (p.Ala208Ser) c.715G>T (p.Ala239Ser) c.436G>T (p.Ala146Ser) | |
10 | g.124400963C>G | CA378633766 | OAT | c.1036G>C (p.Ala346Pro) n.546G>C c.622G>C (p.Ala208Pro) c.715G>C (p.Ala239Pro) c.436G>C (p.Ala146Pro) | |
10 | g.124400963C>T | CA378633765 | OAT | c.1036G>A (p.Ala346Thr) n.546G>A c.622G>A (p.Ala208Thr) c.715G>A (p.Ala239Thr) c.436G>A (p.Ala146Thr) | ClinVar |
10 | g.124400964A= | CA1942337040 | OAT | c.1035T= (p.Leu345=) n.545T= c.621T= (p.Leu207=) c.714T= (p.Leu238=) c.435T= (p.Leu145=) | |
10 | g.124400964A>C | CA471762671 | OAT | c.1035T>G (p.Leu345=) n.545T>G c.621T>G (p.Leu207=) c.714T>G (p.Leu238=) c.435T>G (p.Leu145=) | |
10 | g.124400964A>G | CA471762672 | OAT | c.1035T>C (p.Leu345=) n.545T>C c.621T>C (p.Leu207=) c.714T>C (p.Leu238=) c.435T>C (p.Leu145=) | ClinVar dbSNP gnomAD v4 |
10 | g.124400964A>T | CA471762673 | OAT | c.1035T>A (p.Leu345=) n.545T>A c.621T>A (p.Leu207=) c.714T>A (p.Leu238=) c.435T>A (p.Leu145=) | ClinVar dbSNP gnomAD v4 |
10 | g.124400965A= | CA1942337041 | OAT | c.1034T= (p.Leu345=) n.544T= c.620T= (p.Leu207=) c.713T= (p.Leu238=) c.434T= (p.Leu145=) | |
10 | g.124400965A>C | CA378633767 | OAT | c.1034T>G (p.Leu345Arg) n.544T>G c.620T>G (p.Leu207Arg) c.713T>G (p.Leu238Arg) c.434T>G (p.Leu145Arg) | |
10 | g.124400965A>G | CA378633768 | OAT | c.1034T>C (p.Leu345Pro) n.544T>C c.620T>C (p.Leu207Pro) c.713T>C (p.Leu238Pro) c.434T>C (p.Leu145Pro) | dbSNP gnomAD v4 |
10 | g.124400965A>T | CA378633769 | OAT | c.1034T>A (p.Leu345His) n.544T>A c.620T>A (p.Leu207His) c.713T>A (p.Leu238His) c.434T>A (p.Leu145His) | |
10 | g.124400966G>A | CA378633770 | OAT | c.1033C>T (p.Leu345Phe) n.543C>T c.619C>T (p.Leu207Phe) c.712C>T (p.Leu238Phe) c.433C>T (p.Leu145Phe) | |
10 | g.124400966G>C | CA378633771 | OAT | c.1033C>G (p.Leu345Val) n.543C>G c.619C>G (p.Leu207Val) c.712C>G (p.Leu238Val) c.433C>G (p.Leu145Val) | |
10 | g.124400966G>T | CA378633772 | OAT | c.1033C>A (p.Leu345Ile) n.543C>A c.619C>A (p.Leu207Ile) c.712C>A (p.Leu238Ile) c.433C>A (p.Leu145Ile) | |
10 | g.124400967G>A | CA471762674 | OAT | c.1032C>T (p.Asn344=) n.542C>T c.618C>T (p.Asn206=) c.711C>T (p.Asn237=) c.432C>T (p.Asn144=) | ClinVar dbSNP gnomAD v4 |
10 | g.124400967G>C | CA378633773 | OAT | c.1032C>G (p.Asn344Lys) n.542C>G c.618C>G (p.Asn206Lys) c.711C>G (p.Asn237Lys) c.432C>G (p.Asn144Lys) | |
10 | g.124400967G>T | CA378633774 | OAT | c.1032C>A (p.Asn344Lys) n.542C>A c.618C>A (p.Asn206Lys) c.711C>A (p.Asn237Lys) c.432C>A (p.Asn144Lys) | gnomAD v4 |
10 | g.124400967_124400968delinsGT | CA1942337042 | OAT | c.1031_1032delinsAC (p.Asn344=) n.541_542delinsAC c.617_618delinsAC (p.Asn206=) c.710_711delinsAC (p.Asn237=) c.431_432delinsAC (p.Asn144=) | |
10 | g.124400968T>A | CA378633775 | OAT | c.1031A>T (p.Asn344Ile) n.541A>T c.617A>T (p.Asn206Ile) c.710A>T (p.Asn237Ile) c.431A>T (p.Asn144Ile) | |
10 | g.124400968T>C | CA378633776 | OAT | c.1031A>G (p.Asn344Ser) n.541A>G c.617A>G (p.Asn206Ser) c.710A>G (p.Asn237Ser) c.431A>G (p.Asn144Ser) | |
10 | g.124400968T>G | CA378633777 | OAT | c.1031A>C (p.Asn344Thr) n.541A>C c.617A>C (p.Asn206Thr) c.710A>C (p.Asn237Thr) c.431A>C (p.Asn144Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124400968T= | CA1942337043 | OAT | c.1031A= (p.Asn344=) n.541A= c.617A= (p.Asn206=) c.710A= (p.Asn237=) c.431A= (p.Asn144=) | |
10 | g.124400971del | CA144133 | OAT | c.1031del (p.Asn344ThrfsTer13) n.541del c.617del (p.Asn206ThrfsTer13) c.710del (p.Asn237ThrfsTer13) c.431del (p.Asn144ThrfsTer13) | ClinVar dbSNP |
10 | g.124400969T>A | CA378633780 | OAT | c.1030A>T (p.Asn344Tyr) n.540A>T c.616A>T (p.Asn206Tyr) c.709A>T (p.Asn237Tyr) c.430A>T (p.Asn144Tyr) | |
10 | g.124400969T>C | CA378633779 | OAT | c.1030A>G (p.Asn344Asp) n.540A>G c.616A>G (p.Asn206Asp) c.709A>G (p.Asn237Asp) c.430A>G (p.Asn144Asp) | |
10 | g.124400969T>G | CA378633778 | OAT | c.1030A>C (p.Asn344His) n.540A>C c.616A>C (p.Asn206His) c.709A>C (p.Asn237His) c.430A>C (p.Asn144His) | |
10 | g.124400969_124400972delinsTTTC | CA1942337044 | OAT | c.1027_1030delinsGAAA (p.Glu343=) n.537_540delinsGAAA c.613_616delinsGAAA (p.Glu205=) c.706_709delinsGAAA (p.Glu236=) c.427_430delinsGAAA (p.Glu143=) | |
10 | g.124400970T>A | CA378633781 | OAT | c.1029A>T (p.Glu343Asp) n.539A>T c.615A>T (p.Glu205Asp) c.708A>T (p.Glu236Asp) c.429A>T (p.Glu143Asp) | |
10 | g.124400970T>C | CA471762675 | OAT | c.1029A>G (p.Glu343=) n.539A>G c.615A>G (p.Glu205=) c.708A>G (p.Glu236=) c.429A>G (p.Glu143=) | |
10 | g.124400970T>G | CA378633782 | OAT | c.1029A>C (p.Glu343Asp) n.539A>C c.615A>C (p.Glu205Asp) c.708A>C (p.Glu236Asp) c.429A>C (p.Glu143Asp) | |
10 | g.124400977_124400979del | CA596407348 | OAT | c.1027_1029del (p.Glu343del) n.537_539del c.613_615del (p.Glu205del) c.706_708del (p.Glu236del) c.427_429del (p.Glu143del) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.124400971T>A | CA378633783 | OAT | c.1028A>T (p.Glu343Val) n.538A>T c.614A>T (p.Glu205Val) c.707A>T (p.Glu236Val) c.428A>T (p.Glu143Val) | |
10 | g.124400971T>C | CA378633784 | OAT | c.1028A>G (p.Glu343Gly) n.538A>G c.614A>G (p.Glu205Gly) c.707A>G (p.Glu236Gly) c.428A>G (p.Glu143Gly) | |
10 | g.124400971T>G | CA378633785 | OAT | c.1028A>C (p.Glu343Ala) n.538A>C c.614A>C (p.Glu205Ala) c.707A>C (p.Glu236Ala) c.428A>C (p.Glu143Ala) | |
10 | g.124400971_124400972insA | CA2789814250 | OAT | c.1027_1028insT (p.Glu343ValfsTer5) n.537_538insT c.613_614insT (p.Glu205ValfsTer5) c.706_707insT (p.Glu236ValfsTer5) c.427_428insT (p.Glu143ValfsTer5) | |
10 | g.124400972C>A | CA378633786 | OAT | c.1027G>T (p.Glu343Ter) n.537G>T c.613G>T (p.Glu205Ter) c.706G>T (p.Glu236Ter) c.427G>T (p.Glu143Ter) | |
10 | g.124400972C= | CA1942337045 | OAT | c.1027G= (p.Glu343=) n.537G= c.613G= (p.Glu205=) c.706G= (p.Glu236=) c.427G= (p.Glu143=) | |
10 | g.124400972C>G | CA378633787 | OAT | c.1027G>C (p.Glu343Gln) n.537G>C c.613G>C (p.Glu205Gln) c.706G>C (p.Glu236Gln) c.427G>C (p.Glu143Gln) | ClinVar dbSNP gnomAD v4 |
10 | g.124400972C>T | CA378633788 | OAT | c.1027G>A (p.Glu343Lys) n.537G>A c.613G>A (p.Glu205Lys) c.706G>A (p.Glu236Lys) c.427G>A (p.Glu143Lys) | |
10 | g.124400973T>A | CA378633789 | OAT | c.1026A>T (p.Glu342Asp) n.536A>T c.612A>T (p.Glu204Asp) c.705A>T (p.Glu235Asp) c.426A>T (p.Glu142Asp) | |
10 | g.124400973T>C | CA471762676 | OAT | c.1026A>G (p.Glu342=) n.536A>G c.612A>G (p.Glu204=) c.705A>G (p.Glu235=) c.426A>G (p.Glu142=) | gnomAD v4 |
10 | g.124400973T>G | CA378633790 | OAT | c.1026A>C (p.Glu342Asp) n.536A>C c.612A>C (p.Glu204Asp) c.705A>C (p.Glu235Asp) c.426A>C (p.Glu142Asp) | |
10 | g.124400974T>A | CA378633791 | OAT | c.1025A>T (p.Glu342Val) n.535A>T c.611A>T (p.Glu204Val) c.704A>T (p.Glu235Val) c.425A>T (p.Glu142Val) | |
10 | g.124400974T>C | CA378633792 | OAT | c.1025A>G (p.Glu342Gly) n.535A>G c.611A>G (p.Glu204Gly) c.704A>G (p.Glu235Gly) c.425A>G (p.Glu142Gly) | |
10 | g.124400974T>G | CA378633793 | OAT | c.1025A>C (p.Glu342Ala) n.535A>C c.611A>C (p.Glu204Ala) c.704A>C (p.Glu235Ala) c.425A>C (p.Glu142Ala) | |
10 | g.124400975_124400976del | CA2789814251 | OAT | c.1024_1025del (p.Glu342ArgfsTer5) n.534_535del c.610_611del (p.Glu204ArgfsTer5) c.703_704del (p.Glu235ArgfsTer5) c.424_425del (p.Glu142ArgfsTer5) | |
10 | g.124400975C>A | CA378633794 | OAT | c.1024G>T (p.Glu342Ter) n.534G>T c.610G>T (p.Glu204Ter) c.703G>T (p.Glu235Ter) c.424G>T (p.Glu142Ter) | |
10 | g.124400975C= | CA1942337046 | OAT | c.1024G= (p.Glu342=) n.534G= c.610G= (p.Glu204=) c.703G= (p.Glu235=) c.424G= (p.Glu142=) | |
10 | g.124400975C>G | CA378633795 | OAT | c.1024G>C (p.Glu342Gln) n.534G>C c.610G>C (p.Glu204Gln) c.703G>C (p.Glu235Gln) c.424G>C (p.Glu142Gln) | |
10 | g.124400975C>T | CA5733341 | OAT | c.1024G>A (p.Glu342Lys) n.534G>A c.610G>A (p.Glu204Lys) c.703G>A (p.Glu235Lys) c.424G>A (p.Glu142Lys) | dbSNP ExAC gnomAD v4 |
10 | g.124400976T>A | CA378633797 | OAT | c.1023A>T (p.Glu341Asp) n.533A>T c.609A>T (p.Glu203Asp) c.702A>T (p.Glu234Asp) c.423A>T (p.Glu141Asp) | |
10 | g.124400976T>C | CA471762677 | OAT | c.1023A>G (p.Glu341=) n.533A>G c.609A>G (p.Glu203=) c.702A>G (p.Glu234=) c.423A>G (p.Glu141=) | |
10 | g.124400976T>G | CA378633796 | OAT | c.1023A>C (p.Glu341Asp) n.533A>C c.609A>C (p.Glu203Asp) c.702A>C (p.Glu234Asp) c.423A>C (p.Glu141Asp) | |
10 | g.124400977T>A | CA378633798 | OAT | c.1022A>T (p.Glu341Val) n.532A>T c.608A>T (p.Glu203Val) c.701A>T (p.Glu234Val) c.422A>T (p.Glu141Val) | |
10 | g.124400977T>C | CA378633799 | OAT | c.1022A>G (p.Glu341Gly) n.532A>G c.608A>G (p.Glu203Gly) c.701A>G (p.Glu234Gly) c.422A>G (p.Glu141Gly) | COSMIC |
10 | g.124400977T>G | CA378633800 | OAT | c.1022A>C (p.Glu341Ala) n.532A>C c.608A>C (p.Glu203Ala) c.701A>C (p.Glu234Ala) c.422A>C (p.Glu141Ala) |