Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.22116310A>C | CA370513719 | HR | c.3497T>G (p.Leu1166Arg) c.3332T>G (p.Leu1111Arg) n.1690T>G c.3500T>G (p.Leu1167Arg) c.3335T>G (p.Leu1112Arg) | |
8 | g.22116310A>G | CA370513721 | HR | c.3497T>C (p.Leu1166Pro) c.3332T>C (p.Leu1111Pro) n.1690T>C c.3500T>C (p.Leu1167Pro) c.3335T>C (p.Leu1112Pro) | |
8 | g.22116310A>T | CA370513723 | HR | c.3497T>A (p.Leu1166His) c.3332T>A (p.Leu1111His) n.1690T>A c.3500T>A (p.Leu1167His) c.3335T>A (p.Leu1112His) | |
8 | g.22116311G>A | CA370513725 | HR | c.3496C>T (p.Leu1166Phe) c.3331C>T (p.Leu1111Phe) n.1689C>T c.3499C>T (p.Leu1167Phe) c.3334C>T (p.Leu1112Phe) | |
8 | g.22116311G>C | CA370513727 | HR | c.3496C>G (p.Leu1166Val) c.3331C>G (p.Leu1111Val) n.1689C>G c.3499C>G (p.Leu1167Val) c.3334C>G (p.Leu1112Val) | |
8 | g.22116311G>T | CA370513728 | HR | c.3496C>A (p.Leu1166Ile) c.3331C>A (p.Leu1111Ile) n.1689C>A c.3499C>A (p.Leu1167Ile) c.3334C>A (p.Leu1112Ile) | |
8 | g.22116312C>A | CA459904675 | HR | c.3495G>T (p.Leu1165=) c.3330G>T (p.Leu1110=) n.1688G>T c.3498G>T (p.Leu1166=) c.3333G>T (p.Leu1111=) | |
8 | g.22116312C>G | CA459904677 | HR | c.3495G>C (p.Leu1165=) c.3330G>C (p.Leu1110=) n.1688G>C c.3498G>C (p.Leu1166=) c.3333G>C (p.Leu1111=) | |
8 | g.22116312C>T | CA459904678 | HR | c.3495G>A (p.Leu1165=) c.3330G>A (p.Leu1110=) n.1688G>A c.3498G>A (p.Leu1166=) c.3333G>A (p.Leu1111=) | |
8 | g.22116313A= | CA1770254329 | HR | c.3494T= (p.Leu1165=) c.3329T= (p.Leu1110=) n.1687T= c.3497T= (p.Leu1166=) c.3332T= (p.Leu1111=) | |
8 | g.22116313A>C | CA370513733 | HR | c.3494T>G (p.Leu1165Arg) c.3329T>G (p.Leu1110Arg) n.1687T>G c.3497T>G (p.Leu1166Arg) c.3332T>G (p.Leu1111Arg) | |
8 | g.22116313A>G | CA4661766 | HR | c.3494T>C (p.Leu1165Pro) c.3329T>C (p.Leu1110Pro) n.1687T>C c.3497T>C (p.Leu1166Pro) c.3332T>C (p.Leu1111Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.22116313A>T | CA370513731 | HR | c.3494T>A (p.Leu1165Gln) c.3329T>A (p.Leu1110Gln) n.1687T>A c.3497T>A (p.Leu1166Gln) c.3332T>A (p.Leu1111Gln) | |
8 | g.22116314G>A | CA459904679 | HR | c.3493C>T (p.Leu1165=) c.3328C>T (p.Leu1110=) n.1686C>T c.3496C>T (p.Leu1166=) c.3331C>T (p.Leu1111=) | gnomAD v4 |
8 | g.22116314G>C | CA370513735 | HR | c.3493C>G (p.Leu1165Val) c.3328C>G (p.Leu1110Val) n.1686C>G c.3496C>G (p.Leu1166Val) c.3331C>G (p.Leu1111Val) | |
8 | g.22116314G>T | CA370513738 | HR | c.3493C>A (p.Leu1165Met) c.3328C>A (p.Leu1110Met) n.1686C>A c.3496C>A (p.Leu1166Met) c.3331C>A (p.Leu1111Met) | |
8 | g.22116315G>A | CA459904682 | HR | c.3492C>T (p.His1164=) c.3327C>T (p.His1109=) n.1685C>T c.3495C>T (p.His1165=) c.3330C>T (p.His1110=) | |
8 | g.22116315G>C | CA370513739 | HR | c.3492C>G (p.His1164Gln) c.3327C>G (p.His1109Gln) n.1685C>G c.3495C>G (p.His1165Gln) c.3330C>G (p.His1110Gln) | |
8 | g.22116315G>T | CA370513740 | HR | c.3492C>A (p.His1164Gln) c.3327C>A (p.His1109Gln) n.1685C>A c.3495C>A (p.His1165Gln) c.3330C>A (p.His1110Gln) | gnomAD v4 |
8 | g.22116316T>A | CA370513741 | HR | c.3491A>T (p.His1164Leu) c.3326A>T (p.His1109Leu) n.1684A>T c.3494A>T (p.His1165Leu) c.3329A>T (p.His1110Leu) | |
8 | g.22116316T>C | CA370513742 | HR | c.3491A>G (p.His1164Arg) c.3326A>G (p.His1109Arg) n.1684A>G c.3494A>G (p.His1165Arg) c.3329A>G (p.His1110Arg) | |
8 | g.22116316T>G | CA370513743 | HR | c.3491A>C (p.His1164Pro) c.3326A>C (p.His1109Pro) n.1684A>C c.3494A>C (p.His1165Pro) c.3329A>C (p.His1110Pro) | |
8 | g.22116316T= | CA1770254332 | HR | c.3491A= (p.His1164=) c.3326A= (p.His1109=) n.1684A= c.3494A= (p.His1165=) c.3329A= (p.His1110=) | |
8 | g.22116317G>A | CA370513745 | HR | c.3490C>T (p.His1164Tyr) c.3325C>T (p.His1109Tyr) n.1683C>T c.3493C>T (p.His1165Tyr) c.3328C>T (p.His1110Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.22116317G>C | CA370513748 | HR | c.3490C>G (p.His1164Asp) c.3325C>G (p.His1109Asp) n.1683C>G c.3493C>G (p.His1165Asp) c.3328C>G (p.His1110Asp) | |
8 | g.22116317G= | CA1770254337 | HR | c.3490C= (p.His1164=) c.3325C= (p.His1109=) n.1683C= c.3493C= (p.His1165=) c.3328C= (p.His1110=) | |
8 | g.22116317G>T | CA370513750 | HR | c.3490C>A (p.His1164Asn) c.3325C>A (p.His1109Asn) n.1683C>A c.3493C>A (p.His1165Asn) c.3328C>A (p.His1110Asn) | |
8 | g.22116318_22116321dup | CA1770254335 | HR | c.3487_3490dup (p.His1164LeufsTer?) c.3322_3325dup (p.His1109LeufsTer?) n.1680_1683dup c.3490_3493dup (p.His1165LeufsTer?) c.3325_3328dup (p.His1110LeufsTer?) | dbSNP |
8 | g.22116318G>A | CA459904689 | HR | c.3489C>T (p.Cys1163=) c.3324C>T (p.Cys1108=) n.1682C>T c.3492C>T (p.Cys1164=) c.3327C>T (p.Cys1109=) | |
8 | g.22116318G>C | CA370513751 | HR | c.3489C>G (p.Cys1163Trp) c.3324C>G (p.Cys1108Trp) n.1682C>G c.3492C>G (p.Cys1164Trp) c.3327C>G (p.Cys1109Trp) | |
8 | g.22116318G>T | CA370513752 | HR | c.3489C>A (p.Cys1163Ter) c.3324C>A (p.Cys1108Ter) n.1682C>A c.3492C>A (p.Cys1164Ter) c.3327C>A (p.Cys1109Ter) | |
8 | g.22116318_22116322delinsGCAGT | CA1770254340 | HR | c.3485_3489delinsACTGC (p.Asp1162=) c.3320_3324delinsACTGC (p.Asp1107=) n.1678_1682delinsACTGC c.3488_3492delinsACTGC (p.Asp1163=) c.3323_3327delinsACTGC (p.Asp1108=) | |
8 | g.22116319C>A | CA370513762 | HR | c.3488G>T (p.Cys1163Phe) c.3323G>T (p.Cys1108Phe) n.1681G>T c.3491G>T (p.Cys1164Phe) c.3326G>T (p.Cys1109Phe) | gnomAD v4 |
8 | g.22116319C>G | CA370513760 | HR | c.3488G>C (p.Cys1163Ser) c.3323G>C (p.Cys1108Ser) n.1681G>C c.3491G>C (p.Cys1164Ser) c.3326G>C (p.Cys1109Ser) | |
8 | g.22116319C>T | CA370513754 | HR | c.3488G>A (p.Cys1163Tyr) c.3323G>A (p.Cys1108Tyr) n.1681G>A c.3491G>A (p.Cys1164Tyr) c.3326G>A (p.Cys1109Tyr) | |
8 | g.22116322_22116325del | CA173489708 | HR | c.3485_3488del (p.Asp1162AlafsTer16) c.3320_3323del (p.Asp1107AlafsTer16) n.1678_1681del c.3488_3491del (p.Asp1163AlafsTer16) c.3323_3326del (p.Asp1108AlafsTer16) | dbSNP |
8 | g.22116320A= | CA1770254348 | HR | c.3487T= (p.Cys1163=) c.3322T= (p.Cys1108=) n.1680T= c.3490T= (p.Cys1164=) c.3325T= (p.Cys1109=) | |
8 | g.22116320A>C | CA370513765 | HR | c.3487T>G (p.Cys1163Gly) c.3322T>G (p.Cys1108Gly) n.1680T>G c.3490T>G (p.Cys1164Gly) c.3325T>G (p.Cys1109Gly) | dbSNP |
8 | g.22116320A>G | CA370513767 | HR | c.3487T>C (p.Cys1163Arg) c.3322T>C (p.Cys1108Arg) n.1680T>C c.3490T>C (p.Cys1164Arg) c.3325T>C (p.Cys1109Arg) | |
8 | g.22116320A>T | CA370513769 | HR | c.3487T>A (p.Cys1163Ser) c.3322T>A (p.Cys1108Ser) n.1680T>A c.3490T>A (p.Cys1164Ser) c.3325T>A (p.Cys1109Ser) | |
8 | g.22116321G>A | CA459904694 | HR | c.3486C>T (p.Asp1162=) c.3321C>T (p.Asp1107=) n.1679C>T c.3489C>T (p.Asp1163=) c.3324C>T (p.Asp1108=) | gnomAD v3 gnomAD v4 |
8 | g.22116321G>C | CA370513770 | HR | c.3486C>G (p.Asp1162Glu) c.3321C>G (p.Asp1107Glu) n.1679C>G c.3489C>G (p.Asp1163Glu) c.3324C>G (p.Asp1108Glu) | |
8 | g.22116321G>T | CA370513773 | HR | c.3486C>A (p.Asp1162Glu) c.3321C>A (p.Asp1107Glu) n.1679C>A c.3489C>A (p.Asp1163Glu) c.3324C>A (p.Asp1108Glu) | |
8 | g.22116322T>A | CA370513774 | HR | c.3485A>T (p.Asp1162Val) c.3320A>T (p.Asp1107Val) n.1678A>T c.3488A>T (p.Asp1163Val) c.3323A>T (p.Asp1108Val) | |
8 | g.22116322T>C | CA370513775 | HR | c.3485A>G (p.Asp1162Gly) c.3320A>G (p.Asp1107Gly) n.1678A>G c.3488A>G (p.Asp1163Gly) c.3323A>G (p.Asp1108Gly) | |
8 | g.22116322T>G | CA370513778 | HR | c.3485A>C (p.Asp1162Ala) c.3320A>C (p.Asp1107Ala) n.1678A>C c.3488A>C (p.Asp1163Ala) c.3323A>C (p.Asp1108Ala) | |
8 | g.22116323C>A | CA370513781 | HR | c.3484G>T (p.Asp1162Tyr) c.3319G>T (p.Asp1107Tyr) n.1677G>T c.3487G>T (p.Asp1163Tyr) c.3322G>T (p.Asp1108Tyr) | |
8 | g.22116323C>G | CA370513783 | HR | c.3484G>C (p.Asp1162His) c.3319G>C (p.Asp1107His) n.1677G>C c.3487G>C (p.Asp1163His) c.3322G>C (p.Asp1108His) | |
8 | g.22116323C>T | CA370513785 | HR | c.3484G>A (p.Asp1162Asn) c.3319G>A (p.Asp1107Asn) n.1677G>A c.3487G>A (p.Asp1163Asn) c.3322G>A (p.Asp1108Asn) | |
8 | g.22116324del | CA2579109946 | HR | c.3483del (p.Asp1162ThrfsTer17) c.3318del (p.Asp1107ThrfsTer17) n.1676del c.3486del (p.Asp1163ThrfsTer17) c.3321del (p.Asp1108ThrfsTer17) | |
8 | g.22116324A>C | CA459904698 | HR | c.3483T>G (p.Pro1161=) c.3318T>G (p.Pro1106=) n.1676T>G c.3486T>G (p.Pro1162=) c.3321T>G (p.Pro1107=) | |
8 | g.22116324A>G | CA459904699 | HR | c.3483T>C (p.Pro1161=) c.3318T>C (p.Pro1106=) n.1676T>C c.3486T>C (p.Pro1162=) c.3321T>C (p.Pro1107=) | |
8 | g.22116324A>T | CA459904700 | HR | c.3483T>A (p.Pro1161=) c.3318T>A (p.Pro1106=) n.1676T>A c.3486T>A (p.Pro1162=) c.3321T>A (p.Pro1107=) | |
8 | g.22116324_22116325del | CA2686428590 | HR | c.3482_3483del (p.Pro1161ArgfsTer?) c.3317_3318del (p.Pro1106ArgfsTer?) n.1675_1676del c.3485_3486del (p.Pro1162ArgfsTer?) c.3320_3321del (p.Pro1107ArgfsTer?) | gnomAD v4 |
8 | g.22116324_22116325delinsAG | CA1770254352 | HR | c.3482_3483delinsCT (p.Pro1161=) c.3317_3318delinsCT (p.Pro1106=) n.1675_1676delinsCT c.3485_3486delinsCT (p.Pro1162=) c.3320_3321delinsCT (p.Pro1107=) | |
8 | g.22116325G>A | CA370513790 | HR | c.3482C>T (p.Pro1161Leu) c.3317C>T (p.Pro1106Leu) n.1675C>T c.3485C>T (p.Pro1162Leu) c.3320C>T (p.Pro1107Leu) | |
8 | g.22116325G>C | CA370513792 | HR | c.3482C>G (p.Pro1161Arg) c.3317C>G (p.Pro1106Arg) n.1675C>G c.3485C>G (p.Pro1162Arg) c.3320C>G (p.Pro1107Arg) | |
8 | g.22116325G>T | CA370513788 | HR | c.3482C>A (p.Pro1161His) c.3317C>A (p.Pro1106His) n.1675C>A c.3485C>A (p.Pro1162His) c.3320C>A (p.Pro1107His) | |
8 | g.22116329del | CA918218302 | HR | c.3482del (p.Pro1161LeufsTer18) c.3317del (p.Pro1106LeufsTer18) n.1675del c.3485del (p.Pro1162LeufsTer18) c.3320del (p.Pro1107LeufsTer18) | dbSNP |
8 | g.22116326G>A | CA370513794 | HR | c.3481C>T (p.Pro1161Ser) c.3316C>T (p.Pro1106Ser) n.1674C>T c.3484C>T (p.Pro1162Ser) c.3319C>T (p.Pro1107Ser) | dbSNP gnomAD v4 |
8 | g.22116326G>C | CA370513795 | HR | c.3481C>G (p.Pro1161Ala) c.3316C>G (p.Pro1106Ala) n.1674C>G c.3484C>G (p.Pro1162Ala) c.3319C>G (p.Pro1107Ala) | |
8 | g.22116326G= | CA1770254359 | HR | c.3481C= (p.Pro1161=) c.3316C= (p.Pro1106=) n.1674C= c.3484C= (p.Pro1162=) c.3319C= (p.Pro1107=) | |
8 | g.22116326G>T | CA370513797 | HR | c.3481C>A (p.Pro1161Thr) c.3316C>A (p.Pro1106Thr) n.1674C>A c.3484C>A (p.Pro1162Thr) c.3319C>A (p.Pro1107Thr) | |
8 | g.22116326_22116327delinsAA | CA645555646 | HR | c.3480_3481delinsTT (p.Pro1161Ser) c.3315_3316delinsTT (p.Pro1106Ser) n.1673_1674delinsTT c.3483_3484delinsTT (p.Pro1162Ser) c.3318_3319delinsTT (p.Pro1107Ser) | COSMIC |
8 | g.22116327G>A | CA459904707 | HR | c.3480C>T (p.Pro1160=) c.3315C>T (p.Pro1105=) n.1673C>T c.3483C>T (p.Pro1161=) c.3318C>T (p.Pro1106=) | gnomAD v4 |
8 | g.22116327G>C | CA459904706 | HR | c.3480C>G (p.Pro1160=) c.3315C>G (p.Pro1105=) n.1673C>G c.3483C>G (p.Pro1161=) c.3318C>G (p.Pro1106=) | |
8 | g.22116327G>T | CA459904708 | HR | c.3480C>A (p.Pro1160=) c.3315C>A (p.Pro1105=) n.1673C>A c.3483C>A (p.Pro1161=) c.3318C>A (p.Pro1106=) | |
8 | g.22116328G>A | CA173489710 | HR | c.3479C>T (p.Pro1160Leu) c.3314C>T (p.Pro1105Leu) n.1672C>T c.3482C>T (p.Pro1161Leu) c.3317C>T (p.Pro1106Leu) | dbSNP gnomAD v4 |
8 | g.22116328G>C | CA370513799 | HR | c.3479C>G (p.Pro1160Arg) c.3314C>G (p.Pro1105Arg) n.1672C>G c.3482C>G (p.Pro1161Arg) c.3317C>G (p.Pro1106Arg) | |
8 | g.22116328G= | CA1770254367 | HR | c.3479C= (p.Pro1160=) c.3314C= (p.Pro1105=) n.1672C= c.3482C= (p.Pro1161=) c.3317C= (p.Pro1106=) | |
8 | g.22116328G>T | CA370513801 | HR | c.3479C>A (p.Pro1160His) c.3314C>A (p.Pro1105His) n.1672C>A c.3482C>A (p.Pro1161His) c.3317C>A (p.Pro1106His) | |
8 | g.22116329G>A | CA370513803 | HR | c.3478C>T (p.Pro1160Ser) c.3313C>T (p.Pro1105Ser) n.1671C>T c.3481C>T (p.Pro1161Ser) c.3316C>T (p.Pro1106Ser) | |
8 | g.22116329G>C | CA370513805 | HR | c.3478C>G (p.Pro1160Ala) c.3313C>G (p.Pro1105Ala) n.1671C>G c.3481C>G (p.Pro1161Ala) c.3316C>G (p.Pro1106Ala) | |
8 | g.22116329G>T | CA370513807 | HR | c.3478C>A (p.Pro1160Thr) c.3313C>A (p.Pro1105Thr) n.1671C>A c.3481C>A (p.Pro1161Thr) c.3316C>A (p.Pro1106Thr) | |
8 | g.22116330A>C | CA459904714 | HR | c.3477T>G (p.Leu1159=) c.3312T>G (p.Leu1104=) n.1670T>G c.3480T>G (p.Leu1160=) c.3315T>G (p.Leu1105=) | |
8 | g.22116330A>G | CA459904716 | HR | c.3477T>C (p.Leu1159=) c.3312T>C (p.Leu1104=) n.1670T>C c.3480T>C (p.Leu1160=) c.3315T>C (p.Leu1105=) | |
8 | g.22116330A>T | CA459904718 | HR | c.3477T>A (p.Leu1159=) c.3312T>A (p.Leu1104=) n.1670T>A c.3480T>A (p.Leu1160=) c.3315T>A (p.Leu1105=) | |
8 | g.22116331A>C | CA370513810 | HR | c.3476T>G (p.Leu1159Arg) c.3311T>G (p.Leu1104Arg) n.1669T>G c.3479T>G (p.Leu1160Arg) c.3314T>G (p.Leu1105Arg) | gnomAD v4 |
8 | g.22116331A>G | CA370513811 | HR | c.3476T>C (p.Leu1159Pro) c.3311T>C (p.Leu1104Pro) n.1669T>C c.3479T>C (p.Leu1160Pro) c.3314T>C (p.Leu1105Pro) | |
8 | g.22116331A>T | CA370513812 | HR | c.3476T>A (p.Leu1159His) c.3311T>A (p.Leu1104His) n.1669T>A c.3479T>A (p.Leu1160His) c.3314T>A (p.Leu1105His) | gnomAD v4 |
8 | g.22116332G>A | CA370513816 | HR | c.3475C>T (p.Leu1159Phe) c.3310C>T (p.Leu1104Phe) n.1668C>T c.3478C>T (p.Leu1160Phe) c.3313C>T (p.Leu1105Phe) | gnomAD v4 |
8 | g.22116332G>C | CA370513817 | HR | c.3475C>G (p.Leu1159Val) c.3310C>G (p.Leu1104Val) n.1668C>G c.3478C>G (p.Leu1160Val) c.3313C>G (p.Leu1105Val) | |
8 | g.22116332G>T | CA370513815 | HR | c.3475C>A (p.Leu1159Ile) c.3310C>A (p.Leu1104Ile) n.1668C>A c.3478C>A (p.Leu1160Ile) c.3313C>A (p.Leu1105Ile) | gnomAD v4 |
8 | g.22116333G>A | CA459904721 | HR | c.3474C>T (p.Ser1158=) c.3309C>T (p.Ser1103=) n.1667C>T c.3477C>T (p.Ser1159=) c.3312C>T (p.Ser1104=) | gnomAD v4 |
8 | g.22116333G>C | CA370513819 | HR | c.3474C>G (p.Ser1158Arg) c.3309C>G (p.Ser1103Arg) n.1667C>G c.3477C>G (p.Ser1159Arg) c.3312C>G (p.Ser1104Arg) | dbSNP |
8 | g.22116333G= | CA1770254372 | HR | c.3474C= (p.Ser1158=) c.3309C= (p.Ser1103=) n.1667C= c.3477C= (p.Ser1159=) c.3312C= (p.Ser1104=) | |
8 | g.22116333G>T | CA370513822 | HR | c.3474C>A (p.Ser1158Arg) c.3309C>A (p.Ser1103Arg) n.1667C>A c.3477C>A (p.Ser1159Arg) c.3312C>A (p.Ser1104Arg) | |
8 | g.22116334C>A | CA370513824 | HR | c.3473G>T (p.Ser1158Ile) c.3308G>T (p.Ser1103Ile) n.1666G>T c.3476G>T (p.Ser1159Ile) c.3311G>T (p.Ser1104Ile) | |
8 | g.22116334C>G | CA370513825 | HR | c.3473G>C (p.Ser1158Thr) c.3308G>C (p.Ser1103Thr) n.1666G>C c.3476G>C (p.Ser1159Thr) c.3311G>C (p.Ser1104Thr) | |
8 | g.22116334C>T | CA370513826 | HR | c.3473G>A (p.Ser1158Asn) c.3308G>A (p.Ser1103Asn) n.1666G>A c.3476G>A (p.Ser1159Asn) c.3311G>A (p.Ser1104Asn) | |
8 | g.22116335T>A | CA370513832 | HR | c.3472A>T (p.Ser1158Cys) c.3307A>T (p.Ser1103Cys) n.1665A>T c.3475A>T (p.Ser1159Cys) c.3310A>T (p.Ser1104Cys) | |
8 | g.22116335T>C | CA370513828 | HR | c.3472A>G (p.Ser1158Gly) c.3307A>G (p.Ser1103Gly) n.1665A>G c.3475A>G (p.Ser1159Gly) c.3310A>G (p.Ser1104Gly) | |
8 | g.22116335T>G | CA370513829 | HR | c.3472A>C (p.Ser1158Arg) c.3307A>C (p.Ser1103Arg) n.1665A>C c.3475A>C (p.Ser1159Arg) c.3310A>C (p.Ser1104Arg) | |
8 | g.22116336G>A | CA459904725 | HR | c.3471C>T (p.Pro1157=) c.3306C>T (p.Pro1102=) n.1664C>T c.3474C>T (p.Pro1158=) c.3309C>T (p.Pro1103=) | |
8 | g.22116336G>C | CA459904726 | HR | c.3471C>G (p.Pro1157=) c.3306C>G (p.Pro1102=) n.1664C>G c.3474C>G (p.Pro1158=) c.3309C>G (p.Pro1103=) | |
8 | g.22116336G>T | CA459904728 | HR | c.3471C>A (p.Pro1157=) c.3306C>A (p.Pro1102=) n.1664C>A c.3474C>A (p.Pro1158=) c.3309C>A (p.Pro1103=) | |
8 | g.22116337G>A | CA370513834 | HR | c.3470C>T (p.Pro1157Leu) c.3305C>T (p.Pro1102Leu) n.1663C>T c.3473C>T (p.Pro1158Leu) c.3308C>T (p.Pro1103Leu) | |
8 | g.22116337G>C | CA4661767 | HR | c.3470C>G (p.Pro1157Arg) c.3305C>G (p.Pro1102Arg) n.1663C>G c.3473C>G (p.Pro1158Arg) c.3308C>G (p.Pro1103Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.22116337G= | CA1770254378 | HR | c.3470C= (p.Pro1157=) c.3305C= (p.Pro1102=) n.1663C= c.3473C= (p.Pro1158=) c.3308C= (p.Pro1103=) | |
8 | g.22116337G>T | CA370513837 | HR | c.3470C>A (p.Pro1157His) c.3305C>A (p.Pro1102His) n.1663C>A c.3473C>A (p.Pro1158His) c.3308C>A (p.Pro1103His) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.22116338G>A | CA370513838 | HR | c.3469C>T (p.Pro1157Ser) c.3304C>T (p.Pro1102Ser) n.1662C>T c.3472C>T (p.Pro1158Ser) c.3307C>T (p.Pro1103Ser) | |
8 | g.22116338G>C | CA370513841 | HR | c.3469C>G (p.Pro1157Ala) c.3304C>G (p.Pro1102Ala) n.1662C>G c.3472C>G (p.Pro1158Ala) c.3307C>G (p.Pro1103Ala) | |
8 | g.22116338G>T | CA370513842 | HR | c.3469C>A (p.Pro1157Thr) c.3304C>A (p.Pro1102Thr) n.1662C>A c.3472C>A (p.Pro1158Thr) c.3307C>A (p.Pro1103Thr) | |
8 | g.22116339T>A | CA459904731 | HR | c.3468A>T (p.Gly1156=) c.3303A>T (p.Gly1101=) n.1661A>T c.3471A>T (p.Gly1157=) c.3306A>T (p.Gly1102=) | |
8 | g.22116339T>C | CA459904732 | HR | c.3468A>G (p.Gly1156=) c.3303A>G (p.Gly1101=) n.1661A>G c.3471A>G (p.Gly1157=) c.3306A>G (p.Gly1102=) | |
8 | g.22116339T>G | CA459904733 | HR | c.3468A>C (p.Gly1156=) c.3303A>C (p.Gly1101=) n.1661A>C c.3471A>C (p.Gly1157=) c.3306A>C (p.Gly1102=) | |
8 | g.22116340C>A | CA370513847 | HR | c.3467G>T (p.Gly1156Val) c.3302G>T (p.Gly1101Val) n.1660G>T c.3470G>T (p.Gly1157Val) c.3305G>T (p.Gly1102Val) | gnomAD v4 |
8 | g.22116340C>G | CA370513848 | HR | c.3467G>C (p.Gly1156Ala) c.3302G>C (p.Gly1101Ala) n.1660G>C c.3470G>C (p.Gly1157Ala) c.3305G>C (p.Gly1102Ala) | |
8 | g.22116340C>T | CA370513845 | HR | c.3467G>A (p.Gly1156Glu) c.3302G>A (p.Gly1101Glu) n.1660G>A c.3470G>A (p.Gly1157Glu) c.3305G>A (p.Gly1102Glu) | |
8 | g.22116341C>A | CA370513850 | HR | c.3466G>T (p.Gly1156Ter) c.3301G>T (p.Gly1101Ter) n.1659G>T c.3469G>T (p.Gly1157Ter) c.3304G>T (p.Gly1102Ter) | gnomAD v4 |
8 | g.22116341C>G | CA370513854 | HR | c.3466G>C (p.Gly1156Arg) c.3301G>C (p.Gly1101Arg) n.1659G>C c.3469G>C (p.Gly1157Arg) c.3304G>C (p.Gly1102Arg) | gnomAD v4 |
8 | g.22116341C>T | CA370513852 | HR | c.3466G>A (p.Gly1156Arg) c.3301G>A (p.Gly1101Arg) n.1659G>A c.3469G>A (p.Gly1157Arg) c.3304G>A (p.Gly1102Arg) | |
8 | g.22116342C>A | CA370513857 | HR | c.3465G>T (p.Gln1155His) c.3300G>T (p.Gln1100His) n.1658G>T c.3468G>T (p.Gln1156His) c.3303G>T (p.Gln1101His) | |
8 | g.22116342C= | CA1770254383 | HR | c.3465G= (p.Gln1155=) c.3300G= (p.Gln1100=) n.1658G= c.3468G= (p.Gln1156=) c.3303G= (p.Gln1101=) | |
8 | g.22116342C>G | CA4661768 | HR | c.3465G>C (p.Gln1155His) c.3300G>C (p.Gln1100His) n.1658G>C c.3468G>C (p.Gln1156His) c.3303G>C (p.Gln1101His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.22116342C>T | CA459904737 | HR | c.3465G>A (p.Gln1155=) c.3300G>A (p.Gln1100=) n.1658G>A c.3468G>A (p.Gln1156=) c.3303G>A (p.Gln1101=) | |
8 | g.22116343T>A | CA370513860 | HR | c.3464A>T (p.Gln1155Leu) c.3299A>T (p.Gln1100Leu) n.1657A>T c.3467A>T (p.Gln1156Leu) c.3302A>T (p.Gln1101Leu) | |
8 | g.22116343T>C | CA370513861 | HR | c.3464A>G (p.Gln1155Arg) c.3299A>G (p.Gln1100Arg) n.1657A>G c.3467A>G (p.Gln1156Arg) c.3302A>G (p.Gln1101Arg) | |
8 | g.22116343T>G | CA370513862 | HR | c.3464A>C (p.Gln1155Pro) c.3299A>C (p.Gln1100Pro) n.1657A>C c.3467A>C (p.Gln1156Pro) c.3302A>C (p.Gln1101Pro) | |
8 | g.22116344G>A | CA370513863 | HR | c.3463C>T (p.Gln1155Ter) c.3298C>T (p.Gln1100Ter) n.1656C>T c.3466C>T (p.Gln1156Ter) c.3301C>T (p.Gln1101Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.22116344G>C | CA370513864 | HR | c.3463C>G (p.Gln1155Glu) c.3298C>G (p.Gln1100Glu) n.1656C>G c.3466C>G (p.Gln1156Glu) c.3301C>G (p.Gln1101Glu) | |
8 | g.22116344G= | CA1770254389 | HR | c.3463C= (p.Gln1155=) c.3298C= (p.Gln1100=) n.1656C= c.3466C= (p.Gln1156=) c.3301C= (p.Gln1101=) | |
8 | g.22116344G>T | CA370513865 | HR | c.3463C>A (p.Gln1155Lys) c.3298C>A (p.Gln1100Lys) n.1656C>A c.3466C>A (p.Gln1156Lys) c.3301C>A (p.Gln1101Lys) | gnomAD v4 |
8 | g.22116345G>A | CA459904739 | HR | c.3462C>T (p.His1154=) c.3297C>T (p.His1099=) n.1655C>T c.3465C>T (p.His1155=) c.3300C>T (p.His1100=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.22116345G>C | CA370513870 | HR | c.3462C>G (p.His1154Gln) c.3297C>G (p.His1099Gln) n.1655C>G c.3465C>G (p.His1155Gln) c.3300C>G (p.His1100Gln) | |
8 | g.22116345G= | CA1770254393 | HR | c.3462C= (p.His1154=) c.3297C= (p.His1099=) n.1655C= c.3465C= (p.His1155=) c.3300C= (p.His1100=) | |
8 | g.22116345G>T | CA370513871 | HR | c.3462C>A (p.His1154Gln) c.3297C>A (p.His1099Gln) n.1655C>A c.3465C>A (p.His1155Gln) c.3300C>A (p.His1100Gln) | |
8 | g.22116346T>A | CA370513873 | HR | c.3461A>T (p.His1154Leu) c.3296A>T (p.His1099Leu) n.1654A>T c.3464A>T (p.His1155Leu) c.3299A>T (p.His1100Leu) | dbSNP gnomAD v4 |
8 | g.22116346T>C | CA370513875 | HR | c.3461A>G (p.His1154Arg) c.3296A>G (p.His1099Arg) n.1654A>G c.3464A>G (p.His1155Arg) c.3299A>G (p.His1100Arg) | |
8 | g.22116346T>G | CA370513876 | HR | c.3461A>C (p.His1154Pro) c.3296A>C (p.His1099Pro) n.1654A>C c.3464A>C (p.His1155Pro) c.3299A>C (p.His1100Pro) | |
8 | g.22116346T= | CA1770254399 | HR | c.3461A= (p.His1154=) c.3296A= (p.His1099=) n.1654A= c.3464A= (p.His1155=) c.3299A= (p.His1100=) | |
8 | g.22116347G>A | CA370513878 | HR | c.3460C>T (p.His1154Tyr) c.3295C>T (p.His1099Tyr) n.1653C>T c.3463C>T (p.His1155Tyr) c.3298C>T (p.His1100Tyr) | |
8 | g.22116347G>C | CA370513879 | HR | c.3460C>G (p.His1154Asp) c.3295C>G (p.His1099Asp) n.1653C>G c.3463C>G (p.His1155Asp) c.3298C>G (p.His1100Asp) | |
8 | g.22116347G>T | CA370513880 | HR | c.3460C>A (p.His1154Asn) c.3295C>A (p.His1099Asn) n.1653C>A c.3463C>A (p.His1155Asn) c.3298C>A (p.His1100Asn) | |
8 | g.22116348G>A | CA459904741 | HR | c.3459C>T (p.Cys1153=) c.3294C>T (p.Cys1098=) n.1652C>T c.3462C>T (p.Cys1154=) c.3297C>T (p.Cys1099=) | gnomAD v4 |
8 | g.22116348G>C | CA370513882 | HR | c.3459C>G (p.Cys1153Trp) c.3294C>G (p.Cys1098Trp) n.1652C>G c.3462C>G (p.Cys1154Trp) c.3297C>G (p.Cys1099Trp) | |
8 | g.22116348G>T | CA370513883 | HR | c.3459C>A (p.Cys1153Ter) c.3294C>A (p.Cys1098Ter) n.1652C>A c.3462C>A (p.Cys1154Ter) c.3297C>A (p.Cys1099Ter) | |
8 | g.22116349C>A | CA370513885 | HR | c.3458G>T (p.Cys1153Phe) c.3293G>T (p.Cys1098Phe) n.1651G>T c.3461G>T (p.Cys1154Phe) c.3296G>T (p.Cys1099Phe) | |
8 | g.22116349C= | CA1770254400 | HR | c.3458G= (p.Cys1153=) c.3293G= (p.Cys1098=) n.1651G= c.3461G= (p.Cys1154=) c.3296G= (p.Cys1099=) | |
8 | g.22116349C>G | CA370513886 | HR | c.3458G>C (p.Cys1153Ser) c.3293G>C (p.Cys1098Ser) n.1651G>C c.3461G>C (p.Cys1154Ser) c.3296G>C (p.Cys1099Ser) | |
8 | g.22116349C>T | CA370513887 | HR | c.3458G>A (p.Cys1153Tyr) c.3293G>A (p.Cys1098Tyr) n.1651G>A c.3461G>A (p.Cys1154Tyr) c.3296G>A (p.Cys1099Tyr) | dbSNP |
8 | g.22116350A>C | CA370513888 | HR | c.3457T>G (p.Cys1153Gly) c.3292T>G (p.Cys1098Gly) n.1650T>G c.3460T>G (p.Cys1154Gly) c.3295T>G (p.Cys1099Gly) | |
8 | g.22116350A>G | CA370513890 | HR | c.3457T>C (p.Cys1153Arg) c.3292T>C (p.Cys1098Arg) n.1650T>C c.3460T>C (p.Cys1154Arg) c.3295T>C (p.Cys1099Arg) | |
8 | g.22116350A>T | CA370513891 | HR | c.3457T>A (p.Cys1153Ser) c.3292T>A (p.Cys1098Ser) n.1650T>A c.3460T>A (p.Cys1154Ser) c.3295T>A (p.Cys1099Ser) | |
8 | g.22116351G>A | CA459904745 | HR | c.3456C>T (p.Leu1152=) c.3291C>T (p.Leu1097=) n.1649C>T c.3459C>T (p.Leu1153=) c.3294C>T (p.Leu1098=) | |
8 | g.22116351G>C | CA459904743 | HR | c.3456C>G (p.Leu1152=) c.3291C>G (p.Leu1097=) n.1649C>G c.3459C>G (p.Leu1153=) c.3294C>G (p.Leu1098=) | |
8 | g.22116351G>T | CA459904744 | HR | c.3456C>A (p.Leu1152=) c.3291C>A (p.Leu1097=) n.1649C>A c.3459C>A (p.Leu1153=) c.3294C>A (p.Leu1098=) | |
8 | g.22116352A>C | CA370513893 | HR | c.3455T>G (p.Leu1152Arg) c.3290T>G (p.Leu1097Arg) n.1648T>G c.3458T>G (p.Leu1153Arg) c.3293T>G (p.Leu1098Arg) | |
8 | g.22116352A>G | CA370513894 | HR | c.3455T>C (p.Leu1152Pro) c.3290T>C (p.Leu1097Pro) n.1648T>C c.3458T>C (p.Leu1153Pro) c.3293T>C (p.Leu1098Pro) | |
8 | g.22116352A>T | CA370513896 | HR | c.3455T>A (p.Leu1152His) c.3290T>A (p.Leu1097His) n.1648T>A c.3458T>A (p.Leu1153His) c.3293T>A (p.Leu1098His) | |
8 | g.22116353G>A | CA4661769 | HR | c.3454C>T (p.Leu1152Phe) c.3289C>T (p.Leu1097Phe) n.1647C>T c.3457C>T (p.Leu1153Phe) c.3292C>T (p.Leu1098Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.22116353G>C | CA370513898 | HR | c.3454C>G (p.Leu1152Val) c.3289C>G (p.Leu1097Val) n.1647C>G c.3457C>G (p.Leu1153Val) c.3292C>G (p.Leu1098Val) | |
8 | g.22116353G= | CA1770254403 | HR | c.3454C= (p.Leu1152=) c.3289C= (p.Leu1097=) n.1647C= c.3457C= (p.Leu1153=) c.3292C= (p.Leu1098=) | |
8 | g.22116353G>T | CA370513900 | HR | c.3454C>A (p.Leu1152Ile) c.3289C>A (p.Leu1097Ile) n.1647C>A c.3457C>A (p.Leu1153Ile) c.3292C>A (p.Leu1098Ile) | |
8 | g.22116354C>A | CA370513903 | HR | c.3453G>T (p.Gln1151His) c.3288G>T (p.Gln1096His) n.1646G>T c.3456G>T (p.Gln1152His) c.3291G>T (p.Gln1097His) | |
8 | g.22116354C>G | CA370513902 | HR | c.3453G>C (p.Gln1151His) c.3288G>C (p.Gln1096His) n.1646G>C c.3456G>C (p.Gln1152His) c.3291G>C (p.Gln1097His) | gnomAD v4 |
8 | g.22116354C>T | CA459904747 | HR | c.3453G>A (p.Gln1151=) c.3288G>A (p.Gln1096=) n.1646G>A c.3456G>A (p.Gln1152=) c.3291G>A (p.Gln1097=) | gnomAD v4 |
8 | g.22116355T>A | CA370513904 | HR | c.3452A>T (p.Gln1151Leu) c.3287A>T (p.Gln1096Leu) n.1645A>T c.3455A>T (p.Gln1152Leu) c.3290A>T (p.Gln1097Leu) | |
8 | g.22116355T>C | CA370513905 | HR | c.3452A>G (p.Gln1151Arg) c.3287A>G (p.Gln1096Arg) n.1645A>G c.3455A>G (p.Gln1152Arg) c.3290A>G (p.Gln1097Arg) | |
8 | g.22116355T>G | CA370513906 | HR | c.3452A>C (p.Gln1151Pro) c.3287A>C (p.Gln1096Pro) n.1645A>C c.3455A>C (p.Gln1152Pro) c.3290A>C (p.Gln1097Pro) | |
8 | g.22116356G>A | CA370513907 | HR | c.3451C>T (p.Gln1151Ter) c.3286C>T (p.Gln1096Ter) n.1644C>T c.3454C>T (p.Gln1152Ter) c.3289C>T (p.Gln1097Ter) | |
8 | g.22116356G>C | CA370513909 | HR | c.3451C>G (p.Gln1151Glu) c.3286C>G (p.Gln1096Glu) n.1644C>G c.3454C>G (p.Gln1152Glu) c.3289C>G (p.Gln1097Glu) | |
8 | g.22116356G>T | CA370513910 | HR | c.3451C>A (p.Gln1151Lys) c.3286C>A (p.Gln1096Lys) n.1644C>A c.3454C>A (p.Gln1152Lys) c.3289C>A (p.Gln1097Lys) | |
8 | g.22116357A>C | CA459904751 | HR | c.3450T>G (p.Ala1150=) c.3285T>G (p.Ala1095=) n.1643T>G c.3453T>G (p.Ala1151=) c.3288T>G (p.Ala1096=) | |
8 | g.22116357A>G | CA459904752 | HR | c.3450T>C (p.Ala1150=) c.3285T>C (p.Ala1095=) n.1643T>C c.3453T>C (p.Ala1151=) c.3288T>C (p.Ala1096=) | |
8 | g.22116357A>T | CA459904753 | HR | c.3450T>A (p.Ala1150=) c.3285T>A (p.Ala1095=) n.1643T>A c.3453T>A (p.Ala1151=) c.3288T>A (p.Ala1096=) | |
8 | g.22116358G>A | CA173489713 | HR | c.3449C>T (p.Ala1150Val) c.3284C>T (p.Ala1095Val) n.1642C>T c.3452C>T (p.Ala1151Val) c.3287C>T (p.Ala1096Val) | dbSNP |
8 | g.22116358G>C | CA370513914 | HR | c.3449C>G (p.Ala1150Gly) c.3284C>G (p.Ala1095Gly) n.1642C>G c.3452C>G (p.Ala1151Gly) c.3287C>G (p.Ala1096Gly) | |
8 | g.22116358G= | CA1770254411 | HR | c.3449C= (p.Ala1150=) c.3284C= (p.Ala1095=) n.1642C= c.3452C= (p.Ala1151=) c.3287C= (p.Ala1096=) | |
8 | g.22116358G>T | CA370513912 | HR | c.3449C>A (p.Ala1150Asp) c.3284C>A (p.Ala1095Asp) n.1642C>A c.3452C>A (p.Ala1151Asp) c.3287C>A (p.Ala1096Asp) | |
8 | g.22116359C>A | CA370513916 | HR | c.3448G>T (p.Ala1150Ser) c.3283G>T (p.Ala1095Ser) n.1641G>T c.3451G>T (p.Ala1151Ser) c.3286G>T (p.Ala1096Ser) | |
8 | g.22116359C>G | CA370513917 | HR | c.3448G>C (p.Ala1150Pro) c.3283G>C (p.Ala1095Pro) n.1641G>C c.3451G>C (p.Ala1151Pro) c.3286G>C (p.Ala1096Pro) | |
8 | g.22116359C>T | CA370513919 | HR | c.3448G>A (p.Ala1150Thr) c.3283G>A (p.Ala1095Thr) n.1641G>A c.3451G>A (p.Ala1151Thr) c.3286G>A (p.Ala1096Thr) | |
8 | g.22116360A>C | CA459904757 | HR | c.3447T>G (p.Ser1149=) c.3282T>G (p.Ser1094=) n.1640T>G c.3450T>G (p.Ser1150=) c.3285T>G (p.Ser1095=) | |
8 | g.22116360A>G | CA459904758 | HR | c.3447T>C (p.Ser1149=) c.3282T>C (p.Ser1094=) n.1640T>C c.3450T>C (p.Ser1150=) c.3285T>C (p.Ser1095=) | |
8 | g.22116360A>T | CA459904759 | HR | c.3447T>A (p.Ser1149=) c.3282T>A (p.Ser1094=) n.1640T>A c.3450T>A (p.Ser1150=) c.3285T>A (p.Ser1095=) | |
8 | g.22116361G>A | CA4661770 | HR | c.3446C>T (p.Ser1149Phe) c.3281C>T (p.Ser1094Phe) n.1639C>T c.3449C>T (p.Ser1150Phe) c.3284C>T (p.Ser1095Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.22116361G>C | CA370513920 | HR | c.3446C>G (p.Ser1149Cys) c.3281C>G (p.Ser1094Cys) n.1639C>G c.3449C>G (p.Ser1150Cys) c.3284C>G (p.Ser1095Cys) | |
8 | g.22116361G= | CA1770254416 | HR | c.3446C= (p.Ser1149=) c.3281C= (p.Ser1094=) n.1639C= c.3449C= (p.Ser1150=) c.3284C= (p.Ser1095=) | |
8 | g.22116361G>T | CA370513921 | HR | c.3446C>A (p.Ser1149Tyr) c.3281C>A (p.Ser1094Tyr) n.1639C>A c.3449C>A (p.Ser1150Tyr) c.3284C>A (p.Ser1095Tyr) | |
8 | g.22116362A= | CA1770254420 | HR | c.3445T= (p.Ser1149=) c.3280T= (p.Ser1094=) n.1638T= c.3448T= (p.Ser1150=) c.3283T= (p.Ser1095=) | |
8 | g.22116362A>C | CA370513922 | HR | c.3445T>G (p.Ser1149Ala) c.3280T>G (p.Ser1094Ala) n.1638T>G c.3448T>G (p.Ser1150Ala) c.3283T>G (p.Ser1095Ala) | |
8 | g.22116362A>G | CA370513925 | HR | c.3445T>C (p.Ser1149Pro) c.3280T>C (p.Ser1094Pro) n.1638T>C c.3448T>C (p.Ser1150Pro) c.3283T>C (p.Ser1095Pro) | dbSNP |
8 | g.22116362A>T | CA370513924 | HR | c.3445T>A (p.Ser1149Thr) c.3280T>A (p.Ser1094Thr) n.1638T>A c.3448T>A (p.Ser1150Thr) c.3283T>A (p.Ser1095Thr) | gnomAD v4 |
8 | g.22116363G>A | CA459904761 | HR | c.3444C>T (p.Leu1148=) c.3279C>T (p.Leu1093=) n.1637C>T c.3447C>T (p.Leu1149=) c.3282C>T (p.Leu1094=) | |
8 | g.22116363G>C | CA459904762 | HR | c.3444C>G (p.Leu1148=) c.3279C>G (p.Leu1093=) n.1637C>G c.3447C>G (p.Leu1149=) c.3282C>G (p.Leu1094=) | COSMIC |
8 | g.22116363G>T | CA459904763 | HR | c.3444C>A (p.Leu1148=) c.3279C>A (p.Leu1093=) n.1637C>A c.3447C>A (p.Leu1149=) c.3282C>A (p.Leu1094=) | |
8 | g.22116364A>C | CA370513927 | HR | c.3443T>G (p.Leu1148Arg) c.3278T>G (p.Leu1093Arg) n.1636T>G c.3446T>G (p.Leu1149Arg) c.3281T>G (p.Leu1094Arg) | |
8 | g.22116364A>G | CA370513928 | HR | c.3443T>C (p.Leu1148Pro) c.3278T>C (p.Leu1093Pro) n.1636T>C c.3446T>C (p.Leu1149Pro) c.3281T>C (p.Leu1094Pro) | |
8 | g.22116364A>T | CA370513930 | HR | c.3443T>A (p.Leu1148His) c.3278T>A (p.Leu1093His) n.1636T>A c.3446T>A (p.Leu1149His) c.3281T>A (p.Leu1094His) | |
8 | g.22116365G>A | CA4661771 | HR | c.3442C>T (p.Leu1148Phe) c.3277C>T (p.Leu1093Phe) n.1635C>T c.3445C>T (p.Leu1149Phe) c.3280C>T (p.Leu1094Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.22116365G>C | CA370513931 | HR | c.3442C>G (p.Leu1148Val) c.3277C>G (p.Leu1093Val) n.1635C>G c.3445C>G (p.Leu1149Val) c.3280C>G (p.Leu1094Val) | |
8 | g.22116365G= | CA1770254427 | HR | c.3442C= (p.Leu1148=) c.3277C= (p.Leu1093=) n.1635C= c.3445C= (p.Leu1149=) c.3280C= (p.Leu1094=) | |
8 | g.22116365G>T | CA370513932 | HR | c.3442C>A (p.Leu1148Ile) c.3277C>A (p.Leu1093Ile) n.1635C>A c.3445C>A (p.Leu1149Ile) c.3280C>A (p.Leu1094Ile) | |
8 | g.22116366G>A | CA459904766 | HR | c.3441C>T (p.Ala1147=) c.3276C>T (p.Ala1092=) n.1634C>T c.3444C>T (p.Ala1148=) c.3279C>T (p.Ala1093=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.22116366G>C | CA459904768 | HR | c.3441C>G (p.Ala1147=) c.3276C>G (p.Ala1092=) n.1634C>G c.3444C>G (p.Ala1148=) c.3279C>G (p.Ala1093=) | |
8 | g.22116366G= | CA1770254431 | HR | c.3441C= (p.Ala1147=) c.3276C= (p.Ala1092=) n.1634C= c.3444C= (p.Ala1148=) c.3279C= (p.Ala1093=) | |
8 | g.22116366G>T | CA459904769 | HR | c.3441C>A (p.Ala1147=) c.3276C>A (p.Ala1092=) n.1634C>A c.3444C>A (p.Ala1148=) c.3279C>A (p.Ala1093=) | |
8 | g.22116367G>A | CA370513935 | HR | c.3440C>T (p.Ala1147Val) c.3275C>T (p.Ala1092Val) n.1633C>T c.3443C>T (p.Ala1148Val) c.3278C>T (p.Ala1093Val) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.22116367G>C | CA370513936 | HR | c.3440C>G (p.Ala1147Gly) c.3275C>G (p.Ala1092Gly) n.1633C>G c.3443C>G (p.Ala1148Gly) c.3278C>G (p.Ala1093Gly) | |
8 | g.22116367G= | CA1770254438 | HR | c.3440C= (p.Ala1147=) c.3275C= (p.Ala1092=) n.1633C= c.3443C= (p.Ala1148=) c.3278C= (p.Ala1093=) | |
8 | g.22116367G>T | CA370513938 | HR | c.3440C>A (p.Ala1147Asp) c.3275C>A (p.Ala1092Asp) n.1633C>A c.3443C>A (p.Ala1148Asp) c.3278C>A (p.Ala1093Asp) | |
8 | g.22116368C>A | CA370513939 | HR | c.3439G>T (p.Ala1147Ser) c.3274G>T (p.Ala1092Ser) n.1632G>T c.3442G>T (p.Ala1148Ser) c.3277G>T (p.Ala1093Ser) | |
8 | g.22116368C>G | CA370513940 | HR | c.3439G>C (p.Ala1147Pro) c.3274G>C (p.Ala1092Pro) n.1632G>C c.3442G>C (p.Ala1148Pro) c.3277G>C (p.Ala1093Pro) | |
8 | g.22116368C>T | CA370513942 | HR | c.3439G>A (p.Ala1147Thr) c.3274G>A (p.Ala1092Thr) n.1632G>A c.3442G>A (p.Ala1148Thr) c.3277G>A (p.Ala1093Thr) | |
8 | g.22116369A>C | CA459904774 | HR | c.3438T>G (p.Ser1146=) c.3273T>G (p.Ser1091=) n.1631T>G c.3441T>G (p.Ser1147=) c.3276T>G (p.Ser1092=) | gnomAD v4 |
8 | g.22116369A>G | CA459904773 | HR | c.3438T>C (p.Ser1146=) c.3273T>C (p.Ser1091=) n.1631T>C c.3441T>C (p.Ser1147=) c.3276T>C (p.Ser1092=) | |
8 | g.22116369A>T | CA459904772 | HR | c.3438T>A (p.Ser1146=) c.3273T>A (p.Ser1091=) n.1631T>A c.3441T>A (p.Ser1147=) c.3276T>A (p.Ser1092=) | |
8 | g.22116370G>A | CA370513946 | HR | c.3437C>T (p.Ser1146Phe) c.3272C>T (p.Ser1091Phe) n.1630C>T c.3440C>T (p.Ser1147Phe) c.3275C>T (p.Ser1092Phe) | COSMIC |
8 | g.22116370G>C | CA370513943 | HR | c.3437C>G (p.Ser1146Cys) c.3272C>G (p.Ser1091Cys) n.1630C>G c.3440C>G (p.Ser1147Cys) c.3275C>G (p.Ser1092Cys) | |
8 | g.22116370G>T | CA370513945 | HR | c.3437C>A (p.Ser1146Tyr) c.3272C>A (p.Ser1091Tyr) n.1630C>A c.3440C>A (p.Ser1147Tyr) c.3275C>A (p.Ser1092Tyr) | |
8 | g.22116371A>C | CA370513949 | HR | c.3436T>G (p.Ser1146Ala) c.3271T>G (p.Ser1091Ala) n.1629T>G c.3439T>G (p.Ser1147Ala) c.3274T>G (p.Ser1092Ala) | |
8 | g.22116371A>G | CA370513951 | HR | c.3436T>C (p.Ser1146Pro) c.3271T>C (p.Ser1091Pro) n.1629T>C c.3439T>C (p.Ser1147Pro) c.3274T>C (p.Ser1092Pro) | |
8 | g.22116371A>T | CA370513953 | HR | c.3436T>A (p.Ser1146Thr) c.3271T>A (p.Ser1091Thr) n.1629T>A c.3439T>A (p.Ser1147Thr) c.3274T>A (p.Ser1092Thr) | |
8 | g.22116372G>A | CA4661772 | HR | c.3435C>T (p.Thr1145=) c.3270C>T (p.Thr1090=) n.1628C>T c.3438C>T (p.Thr1146=) c.3273C>T (p.Thr1091=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.22116372G>C | CA459904776 | HR | c.3435C>G (p.Thr1145=) c.3270C>G (p.Thr1090=) n.1628C>G c.3438C>G (p.Thr1146=) c.3273C>G (p.Thr1091=) | |
8 | g.22116372G= | CA1770254445 | HR | c.3435C= (p.Thr1145=) c.3270C= (p.Thr1090=) n.1628C= c.3438C= (p.Thr1146=) c.3273C= (p.Thr1091=) | |
8 | g.22116372G>T | CA459904777 | HR | c.3435C>A (p.Thr1145=) c.3270C>A (p.Thr1090=) n.1628C>A c.3438C>A (p.Thr1146=) c.3273C>A (p.Thr1091=) | |
8 | g.22116373del | CA913139834 | HR | c.3435del (p.Ser1146LeufsTer?) c.3270del (p.Ser1091LeufsTer?) n.1628del c.3438del (p.Ser1147LeufsTer?) c.3273del (p.Ser1092LeufsTer?) | gnomAD v4 |
8 | g.22116373G>A | CA370513956 | HR | c.3434C>T (p.Thr1145Ile) c.3269C>T (p.Thr1090Ile) n.1627C>T c.3437C>T (p.Thr1146Ile) c.3272C>T (p.Thr1091Ile) | dbSNP gnomAD v2 |
8 | g.22116373G>C | CA370513958 | HR | c.3434C>G (p.Thr1145Ser) c.3269C>G (p.Thr1090Ser) n.1627C>G c.3437C>G (p.Thr1146Ser) c.3272C>G (p.Thr1091Ser) | |
8 | g.22116373G= | CA1770254452 | HR | c.3434C= (p.Thr1145=) c.3269C= (p.Thr1090=) n.1627C= c.3437C= (p.Thr1146=) c.3272C= (p.Thr1091=) | |
8 | g.22116373G>T | CA370513960 | HR | c.3434C>A (p.Thr1145Asn) c.3269C>A (p.Thr1090Asn) n.1627C>A c.3437C>A (p.Thr1146Asn) c.3272C>A (p.Thr1091Asn) | |
8 | g.22116374T>A | CA370513967 | HR | c.3433A>T (p.Thr1145Ser) c.3268A>T (p.Thr1090Ser) n.1626A>T c.3436A>T (p.Thr1146Ser) c.3271A>T (p.Thr1091Ser) | gnomAD v4 |
8 | g.22116374T>C | CA370513963 | HR | c.3433A>G (p.Thr1145Ala) c.3268A>G (p.Thr1090Ala) n.1626A>G c.3436A>G (p.Thr1146Ala) c.3271A>G (p.Thr1091Ala) | |
8 | g.22116374T>G | CA370513966 | HR | c.3433A>C (p.Thr1145Pro) c.3268A>C (p.Thr1090Pro) n.1626A>C c.3436A>C (p.Thr1146Pro) c.3271A>C (p.Thr1091Pro) | |
8 | g.22116375C>A | CA370513969 | HR | c.3432G>T (p.Glu1144Asp) c.3267G>T (p.Glu1089Asp) n.1625G>T c.3435G>T (p.Glu1145Asp) c.3270G>T (p.Glu1090Asp) | |
8 | g.22116375C>G | CA370513971 | HR | c.3432G>C (p.Glu1144Asp) c.3267G>C (p.Glu1089Asp) n.1625G>C c.3435G>C (p.Glu1145Asp) c.3270G>C (p.Glu1090Asp) | |
8 | g.22116375C>T | CA459904779 | HR | c.3432G>A (p.Glu1144=) c.3267G>A (p.Glu1089=) n.1625G>A c.3435G>A (p.Glu1145=) c.3270G>A (p.Glu1090=) | |
8 | g.22116376T>A | CA370513973 | HR | c.3431A>T (p.Glu1144Val) c.3266A>T (p.Glu1089Val) n.1624A>T c.3434A>T (p.Glu1145Val) c.3269A>T (p.Glu1090Val) | |
8 | g.22116376T>C | CA370513974 | HR | c.3431A>G (p.Glu1144Gly) c.3266A>G (p.Glu1089Gly) n.1624A>G c.3434A>G (p.Glu1145Gly) c.3269A>G (p.Glu1090Gly) | |
8 | g.22116376T>G | CA370513976 | HR | c.3431A>C (p.Glu1144Ala) c.3266A>C (p.Glu1089Ala) n.1624A>C c.3434A>C (p.Glu1145Ala) c.3269A>C (p.Glu1090Ala) | |
8 | g.22116377C>A | CA370513978 | HR | c.3430G>T (p.Glu1144Ter) c.3265G>T (p.Glu1089Ter) n.1623G>T c.3433G>T (p.Glu1145Ter) c.3268G>T (p.Glu1090Ter) | |
8 | g.22116377C= | CA1770254460 | HR | c.3430G= (p.Glu1144=) c.3265G= (p.Glu1089=) n.1623G= c.3433G= (p.Glu1145=) c.3268G= (p.Glu1090=) | |
8 | g.22116377C>G | CA370513981 | HR | c.3430G>C (p.Glu1144Gln) c.3265G>C (p.Glu1089Gln) n.1623G>C c.3433G>C (p.Glu1145Gln) c.3268G>C (p.Glu1090Gln) | |
8 | g.22116377C>T | CA370513980 | HR | c.3430G>A (p.Glu1144Lys) c.3265G>A (p.Glu1089Lys) n.1623G>A c.3433G>A (p.Glu1145Lys) c.3268G>A (p.Glu1090Lys) | dbSNP |
8 | g.22116378A= | CA1770254466 | HR | c.3429T= (p.Pro1143=) c.3264T= (p.Pro1088=) n.1622T= c.3432T= (p.Pro1144=) c.3267T= (p.Pro1089=) | |
8 | g.22116378A>C | CA459904780 | HR | c.3429T>G (p.Pro1143=) c.3264T>G (p.Pro1088=) n.1622T>G c.3432T>G (p.Pro1144=) c.3267T>G (p.Pro1089=) | |
8 | g.22116378A>G | CA459904781 | HR | c.3429T>C (p.Pro1143=) c.3264T>C (p.Pro1088=) n.1622T>C c.3432T>C (p.Pro1144=) c.3267T>C (p.Pro1089=) | dbSNP gnomAD v4 |
8 | g.22116378A>T | CA459904782 | HR | c.3429T>A (p.Pro1143=) c.3264T>A (p.Pro1088=) n.1622T>A c.3432T>A (p.Pro1144=) c.3267T>A (p.Pro1089=) | |
8 | g.22116378_22116379del | CA2686428700 | HR | c.3428_3429del (p.Pro1143ArgfsTer19) c.3263_3264del (p.Pro1088ArgfsTer19) n.1621_1622del c.3431_3432del (p.Pro1144ArgfsTer19) c.3266_3267del (p.Pro1089ArgfsTer19) | gnomAD v4 |
8 | g.22116379G>A | CA370513984 | HR | c.3428C>T (p.Pro1143Leu) c.3263C>T (p.Pro1088Leu) n.1621C>T c.3431C>T (p.Pro1144Leu) c.3266C>T (p.Pro1089Leu) | |
8 | g.22116379G>C | CA370513986 | HR | c.3428C>G (p.Pro1143Arg) c.3263C>G (p.Pro1088Arg) n.1621C>G c.3431C>G (p.Pro1144Arg) c.3266C>G (p.Pro1089Arg) | |
8 | g.22116379G>T | CA370513988 | HR | c.3428C>A (p.Pro1143His) c.3263C>A (p.Pro1088His) n.1621C>A c.3431C>A (p.Pro1144His) c.3266C>A (p.Pro1089His) | |
8 | g.22116380G>A | CA370513990 | HR | c.3427C>T (p.Pro1143Ser) c.3262C>T (p.Pro1088Ser) n.1620C>T c.3430C>T (p.Pro1144Ser) c.3265C>T (p.Pro1089Ser) | |
8 | g.22116380G>C | CA370513992 | HR | c.3427C>G (p.Pro1143Ala) c.3262C>G (p.Pro1088Ala) n.1620C>G c.3430C>G (p.Pro1144Ala) c.3265C>G (p.Pro1089Ala) | |
8 | g.22116380G= | CA1770254474 | HR | c.3427C= (p.Pro1143=) c.3262C= (p.Pro1088=) n.1620C= c.3430C= (p.Pro1144=) c.3265C= (p.Pro1089=) | |
8 | g.22116380G>T | CA370513994 | HR | c.3427C>A (p.Pro1143Thr) c.3262C>A (p.Pro1088Thr) n.1620C>A c.3430C>A (p.Pro1144Thr) c.3265C>A (p.Pro1089Thr) | dbSNP |
8 | g.22116381G>A | CA4661774 | HR | c.3426C>T (p.Ser1142=) c.3261C>T (p.Ser1087=) n.1619C>T c.3429C>T (p.Ser1143=) c.3264C>T (p.Ser1088=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.22116381G>C | CA459904787 | HR | c.3426C>G (p.Ser1142=) c.3261C>G (p.Ser1087=) n.1619C>G c.3429C>G (p.Ser1143=) c.3264C>G (p.Ser1088=) | |
8 | g.22116381G= | CA1770254478 | HR | c.3426C= (p.Ser1142=) c.3261C= (p.Ser1087=) n.1619C= c.3429C= (p.Ser1143=) c.3264C= (p.Ser1088=) | |
8 | g.22116381G>T | CA4661773 | HR | c.3426C>A (p.Ser1142=) c.3261C>A (p.Ser1087=) n.1619C>A c.3429C>A (p.Ser1143=) c.3264C>A (p.Ser1088=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.22116382G>A | CA370513999 | HR | c.3425C>T (p.Ser1142Phe) c.3260C>T (p.Ser1087Phe) n.1618C>T c.3428C>T (p.Ser1143Phe) c.3263C>T (p.Ser1088Phe) | |
8 | g.22116382G>C | CA370514001 | HR | c.3425C>G (p.Ser1142Cys) c.3260C>G (p.Ser1087Cys) n.1618C>G c.3428C>G (p.Ser1143Cys) c.3263C>G (p.Ser1088Cys) | |
8 | g.22116382G= | CA1770254482 | HR | c.3425C= (p.Ser1142=) c.3260C= (p.Ser1087=) n.1618C= c.3428C= (p.Ser1143=) c.3263C= (p.Ser1088=) | |
8 | g.22116382G>T | CA370514004 | HR | c.3425C>A (p.Ser1142Tyr) c.3260C>A (p.Ser1087Tyr) n.1618C>A c.3428C>A (p.Ser1143Tyr) c.3263C>A (p.Ser1088Tyr) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.22116383A= | CA1770254484 | HR | c.3424T= (p.Ser1142=) c.3259T= (p.Ser1087=) n.1617T= c.3427T= (p.Ser1143=) c.3262T= (p.Ser1088=) | |
8 | g.22116383A>C | CA370514011 | HR | c.3424T>G (p.Ser1142Ala) c.3259T>G (p.Ser1087Ala) n.1617T>G c.3427T>G (p.Ser1143Ala) c.3262T>G (p.Ser1088Ala) | |
8 | g.22116383A>G | CA4661775 | HR | c.3424T>C (p.Ser1142Pro) c.3259T>C (p.Ser1087Pro) n.1617T>C c.3427T>C (p.Ser1143Pro) c.3262T>C (p.Ser1088Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.22116383A>T | CA370514008 | HR | c.3424T>A (p.Ser1142Thr) c.3259T>A (p.Ser1087Thr) n.1617T>A c.3427T>A (p.Ser1143Thr) c.3262T>A (p.Ser1088Thr) | |
8 | g.22116384G>A | CA459904789 | HR | c.3423C>T (p.Leu1141=) c.3258C>T (p.Leu1086=) n.1616C>T c.3426C>T (p.Leu1142=) c.3261C>T (p.Leu1087=) | |
8 | g.22116384G>C | CA459904790 | HR | c.3423C>G (p.Leu1141=) c.3258C>G (p.Leu1086=) n.1616C>G c.3426C>G (p.Leu1142=) c.3261C>G (p.Leu1087=) | |
8 | g.22116384G>T | CA459904791 | HR | c.3423C>A (p.Leu1141=) c.3258C>A (p.Leu1086=) n.1616C>A c.3426C>A (p.Leu1142=) c.3261C>A (p.Leu1087=) | |
8 | g.22116385A>C | CA370514014 | HR | c.3422T>G (p.Leu1141Arg) c.3257T>G (p.Leu1086Arg) n.1615T>G c.3425T>G (p.Leu1142Arg) c.3260T>G (p.Leu1087Arg) | |
8 | g.22116385A>G | CA370514021 | HR | c.3422T>C (p.Leu1141Pro) c.3257T>C (p.Leu1086Pro) n.1615T>C c.3425T>C (p.Leu1142Pro) c.3260T>C (p.Leu1087Pro) | |
8 | g.22116385A>T | CA370514024 | HR | c.3422T>A (p.Leu1141His) c.3257T>A (p.Leu1086His) n.1615T>A c.3425T>A (p.Leu1142His) c.3260T>A (p.Leu1087His) | |
8 | g.22116386G>A | CA370514025 | HR | c.3421C>T (p.Leu1141Phe) c.3256C>T (p.Leu1086Phe) n.1614C>T c.3424C>T (p.Leu1142Phe) c.3259C>T (p.Leu1087Phe) | |
8 | g.22116386G>C | CA370514028 | HR | c.3421C>G (p.Leu1141Val) c.3256C>G (p.Leu1086Val) n.1614C>G c.3424C>G (p.Leu1142Val) c.3259C>G (p.Leu1087Val) | |
8 | g.22116386G>T | CA370514029 | HR | c.3421C>A (p.Leu1141Ile) c.3256C>A (p.Leu1086Ile) n.1614C>A c.3424C>A (p.Leu1142Ile) c.3259C>A (p.Leu1087Ile) | |
8 | g.22116387del | CA459904793 | HR | c.3421del (p.Leu1141SerfsTer?) c.3256del (p.Leu1086SerfsTer?) n.1614del c.3424del (p.Leu1142SerfsTer?) c.3259del (p.Leu1087SerfsTer?) | COSMIC |
8 | g.22116387G>A | CA459904794 | HR | c.3420C>T (p.Phe1140=) c.3255C>T (p.Phe1085=) n.1613C>T c.3423C>T (p.Phe1141=) c.3258C>T (p.Phe1086=) | |
8 | g.22116387G>C | CA370514037 | HR | c.3420C>G (p.Phe1140Leu) c.3255C>G (p.Phe1085Leu) n.1613C>G c.3423C>G (p.Phe1141Leu) c.3258C>G (p.Phe1086Leu) | |
8 | g.22116387G>T | CA370514030 | HR | c.3420C>A (p.Phe1140Leu) c.3255C>A (p.Phe1085Leu) n.1613C>A c.3423C>A (p.Phe1141Leu) c.3258C>A (p.Phe1086Leu) | |
8 | g.22116388A>C | CA370514042 | HR | c.3419T>G (p.Phe1140Cys) c.3254T>G (p.Phe1085Cys) n.1612T>G c.3422T>G (p.Phe1141Cys) c.3257T>G (p.Phe1086Cys) | |
8 | g.22116388A>G | CA370514043 | HR | c.3419T>C (p.Phe1140Ser) c.3254T>C (p.Phe1085Ser) n.1612T>C c.3422T>C (p.Phe1141Ser) c.3257T>C (p.Phe1086Ser) | |
8 | g.22116388A>T | CA370514044 | HR | c.3419T>A (p.Phe1140Tyr) c.3254T>A (p.Phe1085Tyr) n.1612T>A c.3422T>A (p.Phe1141Tyr) c.3257T>A (p.Phe1086Tyr) | |
8 | g.22116389A>C | CA370514047 | HR | c.3418T>G (p.Phe1140Val) c.3253T>G (p.Phe1085Val) n.1611T>G c.3421T>G (p.Phe1141Val) c.3256T>G (p.Phe1086Val) | |
8 | g.22116389A>G | CA370514049 | HR | c.3418T>C (p.Phe1140Leu) c.3253T>C (p.Phe1085Leu) n.1611T>C c.3421T>C (p.Phe1141Leu) c.3256T>C (p.Phe1086Leu) | |
8 | g.22116389A>T | CA370514052 | HR | c.3418T>A (p.Phe1140Ile) c.3253T>A (p.Phe1085Ile) n.1611T>A c.3421T>A (p.Phe1141Ile) c.3256T>A (p.Phe1086Ile) | |
8 | g.22116390G>A | CA4661776 | HR | c.3417C>T (p.His1139=) c.3252C>T (p.His1084=) n.1610C>T c.3420C>T (p.His1140=) c.3255C>T (p.His1085=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.22116390G>C | CA370514056 | HR | c.3417C>G (p.His1139Gln) c.3252C>G (p.His1084Gln) n.1610C>G c.3420C>G (p.His1140Gln) c.3255C>G (p.His1085Gln) | |
8 | g.22116390G= | CA1770254491 | HR | c.3417C= (p.His1139=) c.3252C= (p.His1084=) n.1610C= c.3420C= (p.His1140=) c.3255C= (p.His1085=) | |
8 | g.22116390G>T | CA370514054 | HR | c.3417C>A (p.His1139Gln) c.3252C>A (p.His1084Gln) n.1610C>A c.3420C>A (p.His1140Gln) c.3255C>A (p.His1085Gln) | |
8 | g.22116391T>A | CA370514058 | HR | c.3416A>T (p.His1139Leu) c.3251A>T (p.His1084Leu) n.1609A>T c.3419A>T (p.His1140Leu) c.3254A>T (p.His1085Leu) | dbSNP |
8 | g.22116391T>C | CA370514061 | HR | c.3416A>G (p.His1139Arg) c.3251A>G (p.His1084Arg) n.1609A>G c.3419A>G (p.His1140Arg) c.3254A>G (p.His1085Arg) | |
8 | g.22116391T>G | CA370514063 | HR | c.3416A>C (p.His1139Pro) c.3251A>C (p.His1084Pro) n.1609A>C c.3419A>C (p.His1140Pro) c.3254A>C (p.His1085Pro) | |
8 | g.22116391T= | CA1770254498 | HR | c.3416A= (p.His1139=) c.3251A= (p.His1084=) n.1609A= c.3419A= (p.His1140=) c.3254A= (p.His1085=) | |
8 | g.22116392G>A | CA370514064 | HR | c.3415C>T (p.His1139Tyr) c.3250C>T (p.His1084Tyr) n.1608C>T c.3418C>T (p.His1140Tyr) c.3253C>T (p.His1085Tyr) | |
8 | g.22116392G>C | CA370514066 | HR | c.3415C>G (p.His1139Asp) c.3250C>G (p.His1084Asp) n.1608C>G c.3418C>G (p.His1140Asp) c.3253C>G (p.His1085Asp) | |
8 | g.22116392G= | CA1770254503 | HR | c.3415C= (p.His1139=) c.3250C= (p.His1084=) n.1608C= c.3418C= (p.His1140=) c.3253C= (p.His1085=) | |
8 | g.22116392G>T | CA370514068 | HR | c.3415C>A (p.His1139Asn) c.3250C>A (p.His1084Asn) n.1608C>A c.3418C>A (p.His1140Asn) c.3253C>A (p.His1085Asn) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.22116393C>A | CA370514070 | HR | c.3414G>T (p.Gln1138His) c.3249G>T (p.Gln1083His) n.1607G>T c.3417G>T (p.Gln1139His) c.3252G>T (p.Gln1084His) | |
8 | g.22116393C>G | CA370514072 | HR | c.3414G>C (p.Gln1138His) c.3249G>C (p.Gln1083His) n.1607G>C c.3417G>C (p.Gln1139His) c.3252G>C (p.Gln1084His) | |
8 | g.22116393C>T | CA459904800 | HR | c.3414G>A (p.Gln1138=) c.3249G>A (p.Gln1083=) n.1607G>A c.3417G>A (p.Gln1139=) c.3252G>A (p.Gln1084=) | |
8 | g.22116394T>A | CA370514074 | HR | c.3413A>T (p.Gln1138Leu) c.3248A>T (p.Gln1083Leu) n.1606A>T c.3416A>T (p.Gln1139Leu) c.3251A>T (p.Gln1084Leu) | |
8 | g.22116394T>C | CA370514075 | HR | c.3413A>G (p.Gln1138Arg) c.3248A>G (p.Gln1083Arg) n.1606A>G c.3416A>G (p.Gln1139Arg) c.3251A>G (p.Gln1084Arg) | |
8 | g.22116394T>G | CA370514077 | HR | c.3413A>C (p.Gln1138Pro) c.3248A>C (p.Gln1083Pro) n.1606A>C c.3416A>C (p.Gln1139Pro) c.3251A>C (p.Gln1084Pro) | |
8 | g.22116395G>A | CA370514080 | HR | c.3412C>T (p.Gln1138Ter) c.3247C>T (p.Gln1083Ter) n.1605C>T c.3415C>T (p.Gln1139Ter) c.3250C>T (p.Gln1084Ter) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.22116395G>C | CA370514083 | HR | c.3412C>G (p.Gln1138Glu) c.3247C>G (p.Gln1083Glu) n.1605C>G c.3415C>G (p.Gln1139Glu) c.3250C>G (p.Gln1084Glu) | |
8 | g.22116395G= | CA1770254507 | HR | c.3412C= (p.Gln1138=) c.3247C= (p.Gln1083=) n.1605C= c.3415C= (p.Gln1139=) c.3250C= (p.Gln1084=) | |
8 | g.22116395G>T | CA370514082 | HR | c.3412C>A (p.Gln1138Lys) c.3247C>A (p.Gln1083Lys) n.1605C>A c.3415C>A (p.Gln1139Lys) c.3250C>A (p.Gln1084Lys) | |
8 | g.22116396A>C | CA459904802 | HR | c.3411T>G (p.Thr1137=) c.3246T>G (p.Thr1082=) n.1604T>G c.3414T>G (p.Thr1138=) c.3249T>G (p.Thr1083=) | |
8 | g.22116396A>G | CA459904804 | HR | c.3411T>C (p.Thr1137=) c.3246T>C (p.Thr1082=) n.1604T>C c.3414T>C (p.Thr1138=) c.3249T>C (p.Thr1083=) | |
8 | g.22116396A>T | CA459904803 | HR | c.3411T>A (p.Thr1137=) c.3246T>A (p.Thr1082=) n.1604T>A c.3414T>A (p.Thr1138=) c.3249T>A (p.Thr1083=) | |
8 | g.22116397G>A | CA370514086 | HR | c.3410C>T (p.Thr1137Ile) c.3245C>T (p.Thr1082Ile) n.1603C>T c.3413C>T (p.Thr1138Ile) c.3248C>T (p.Thr1083Ile) | gnomAD v4 |
8 | g.22116397G>C | CA370514090 | HR | c.3410C>G (p.Thr1137Ser) c.3245C>G (p.Thr1082Ser) n.1603C>G c.3413C>G (p.Thr1138Ser) c.3248C>G (p.Thr1083Ser) | dbSNP gnomAD v2 |
8 | g.22116397G= | CA1770254513 | HR | c.3410C= (p.Thr1137=) c.3245C= (p.Thr1082=) n.1603C= c.3413C= (p.Thr1138=) c.3248C= (p.Thr1083=) | |
8 | g.22116397G>T | CA370514087 | HR | c.3410C>A (p.Thr1137Asn) c.3245C>A (p.Thr1082Asn) n.1603C>A c.3413C>A (p.Thr1138Asn) c.3248C>A (p.Thr1083Asn) | |
8 | g.22116398T>A | CA370514092 | HR | c.3409A>T (p.Thr1137Ser) c.3244A>T (p.Thr1082Ser) n.1602A>T c.3412A>T (p.Thr1138Ser) c.3247A>T (p.Thr1083Ser) | |
8 | g.22116398T>C | CA370514096 | HR | c.3409A>G (p.Thr1137Ala) c.3244A>G (p.Thr1082Ala) n.1602A>G c.3412A>G (p.Thr1138Ala) c.3247A>G (p.Thr1083Ala) | |
8 | g.22116398T>G | CA370514094 | HR | c.3409A>C (p.Thr1137Pro) c.3244A>C (p.Thr1082Pro) n.1602A>C c.3412A>C (p.Thr1138Pro) c.3247A>C (p.Thr1083Pro) | gnomAD v4 |
8 | g.22116399G>A | CA459904805 | HR | c.3408C>T (p.Val1136=) c.3243C>T (p.Val1081=) n.1601C>T c.3411C>T (p.Val1137=) c.3246C>T (p.Val1082=) | |
8 | g.22116399G>C | CA459904806 | HR | c.3408C>G (p.Val1136=) c.3243C>G (p.Val1081=) n.1601C>G c.3411C>G (p.Val1137=) c.3246C>G (p.Val1082=) | |
8 | g.22116399G>T | CA459904807 | HR | c.3408C>A (p.Val1136=) c.3243C>A (p.Val1081=) n.1601C>A c.3411C>A (p.Val1137=) c.3246C>A (p.Val1082=) | |
8 | g.22116400A= | CA1770254519 | HR | c.3407T= (p.Val1136=) c.3242T= (p.Val1081=) n.1600T= c.3410T= (p.Val1137=) c.3245T= (p.Val1082=) | |
8 | g.22116400A>C | CA370514097 | HR | c.3407T>G (p.Val1136Gly) c.3242T>G (p.Val1081Gly) n.1600T>G c.3410T>G (p.Val1137Gly) c.3245T>G (p.Val1082Gly) | |
8 | g.22116400A>G | CA370514100 | HR | c.3407T>C (p.Val1136Ala) c.3242T>C (p.Val1081Ala) n.1600T>C c.3410T>C (p.Val1137Ala) c.3245T>C (p.Val1082Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.22116400A>T | CA210693 | HR | c.3407T>A (p.Val1136Asp) c.3242T>A (p.Val1081Asp) n.1600T>A c.3410T>A (p.Val1137Asp) c.3245T>A (p.Val1082Asp) | ClinVar dbSNP |
8 | g.22116401C>A | CA370514102 | HR | c.3406G>T (p.Val1136Phe) c.3241G>T (p.Val1081Phe) n.1599G>T c.3409G>T (p.Val1137Phe) c.3244G>T (p.Val1082Phe) | |
8 | g.22116401C= | CA1770254536 | HR | c.3406G= (p.Val1136=) c.3241G= (p.Val1081=) n.1599G= c.3409G= (p.Val1137=) c.3244G= (p.Val1082=) | |
8 | g.22116401C>G | CA370514104 | HR | c.3406G>C (p.Val1136Leu) c.3241G>C (p.Val1081Leu) n.1599G>C c.3409G>C (p.Val1137Leu) c.3244G>C (p.Val1082Leu) | |
8 | g.22116401C>T | CA4661777 | HR | c.3406G>A (p.Val1136Ile) c.3241G>A (p.Val1081Ile) n.1599G>A c.3409G>A (p.Val1137Ile) c.3244G>A (p.Val1082Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.22116402G>A | CA459904809 | HR | c.3405C>T (p.Ser1135=) c.3240C>T (p.Ser1080=) n.1598C>T c.3408C>T (p.Ser1136=) c.3243C>T (p.Ser1081=) | gnomAD v4 COSMIC |
8 | g.22116402G>C | CA370514105 | HR | c.3405C>G (p.Ser1135Arg) c.3240C>G (p.Ser1080Arg) n.1598C>G c.3408C>G (p.Ser1136Arg) c.3243C>G (p.Ser1081Arg) | |
8 | g.22116402G>T | CA370514107 | HR | c.3405C>A (p.Ser1135Arg) c.3240C>A (p.Ser1080Arg) n.1598C>A c.3408C>A (p.Ser1136Arg) c.3243C>A (p.Ser1081Arg) | |
8 | g.22116403C>A | CA370514109 | HR | c.3404G>T (p.Ser1135Ile) c.3239G>T (p.Ser1080Ile) n.1597G>T c.3407G>T (p.Ser1136Ile) c.3242G>T (p.Ser1081Ile) | |
8 | g.22116403C>G | CA370514111 | HR | c.3404G>C (p.Ser1135Thr) c.3239G>C (p.Ser1080Thr) n.1597G>C c.3407G>C (p.Ser1136Thr) c.3242G>C (p.Ser1081Thr) | |
8 | g.22116403C>T | CA370514114 | HR | c.3404G>A (p.Ser1135Asn) c.3239G>A (p.Ser1080Asn) n.1597G>A c.3407G>A (p.Ser1136Asn) c.3242G>A (p.Ser1081Asn) | |
8 | g.22116403dup | CA2839378368 | HR | c.3404dup (p.Ser1135ArgfsTer10) c.3239dup (p.Ser1080ArgfsTer10) n.1597dup c.3407dup (p.Ser1136ArgfsTer10) c.3242dup (p.Ser1081ArgfsTer10) | |
8 | g.22116406_22116409del | CA2686428749 | HR | c.3401_3404del (p.Val1134AlafsTer?) c.3236_3239del (p.Val1079AlafsTer?) n.1594_1597del c.3404_3407del (p.Val1135AlafsTer?) c.3239_3242del (p.Val1080AlafsTer?) | gnomAD v4 |
8 | g.22116404T>A | CA370514121 | HR | c.3403A>T (p.Ser1135Cys) c.3238A>T (p.Ser1080Cys) n.1596A>T c.3406A>T (p.Ser1136Cys) c.3241A>T (p.Ser1081Cys) | |
8 | g.22116404T>C | CA370514118 | HR | c.3403A>G (p.Ser1135Gly) c.3238A>G (p.Ser1080Gly) n.1596A>G c.3406A>G (p.Ser1136Gly) c.3241A>G (p.Ser1081Gly) | dbSNP |
8 | g.22116404T>G | CA370514119 | HR | c.3403A>C (p.Ser1135Arg) c.3238A>C (p.Ser1080Arg) n.1596A>C c.3406A>C (p.Ser1136Arg) c.3241A>C (p.Ser1081Arg) | gnomAD v4 |
8 | g.22116405G>A | CA4661778 | HR | c.3402C>T (p.Val1134=) c.3237C>T (p.Val1079=) n.1595C>T c.3405C>T (p.Val1135=) c.3240C>T (p.Val1080=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.22116405G>C | CA459904810 | HR | c.3402C>G (p.Val1134=) c.3237C>G (p.Val1079=) n.1595C>G c.3405C>G (p.Val1135=) c.3240C>G (p.Val1080=) | |
8 | g.22116405G= | CA1770254565 | HR | c.3402C= (p.Val1134=) c.3237C= (p.Val1079=) n.1595C= c.3405C= (p.Val1135=) c.3240C= (p.Val1080=) | |
8 | g.22116405G>T | CA459904811 | HR | c.3402C>A (p.Val1134=) c.3237C>A (p.Val1079=) n.1595C>A c.3405C>A (p.Val1135=) c.3240C>A (p.Val1080=) | gnomAD v4 |
8 | g.22116406A>C | CA370514123 | HR | c.3401T>G (p.Val1134Gly) c.3236T>G (p.Val1079Gly) n.1594T>G c.3404T>G (p.Val1135Gly) c.3239T>G (p.Val1080Gly) | |
8 | g.22116406A>G | CA370514124 | HR | c.3401T>C (p.Val1134Ala) c.3236T>C (p.Val1079Ala) n.1594T>C c.3404T>C (p.Val1135Ala) c.3239T>C (p.Val1080Ala) | |
8 | g.22116406A>T | CA370514125 | HR | c.3401T>A (p.Val1134Asp) c.3236T>A (p.Val1079Asp) n.1594T>A c.3404T>A (p.Val1135Asp) c.3239T>A (p.Val1080Asp) | |
8 | g.22116407C>A | CA370514128 | HR | c.3400G>T (p.Val1134Phe) c.3235G>T (p.Val1079Phe) n.1593G>T c.3403G>T (p.Val1135Phe) c.3238G>T (p.Val1080Phe) | |
8 | g.22116407C= | CA1770254570 | HR | c.3400G= (p.Val1134=) c.3235G= (p.Val1079=) n.1593G= c.3403G= (p.Val1135=) c.3238G= (p.Val1080=) | |
8 | g.22116407C>G | CA370514130 | HR | c.3400G>C (p.Val1134Leu) c.3235G>C (p.Val1079Leu) n.1593G>C c.3403G>C (p.Val1135Leu) c.3238G>C (p.Val1080Leu) | |
8 | g.22116407C>T | CA370514133 | HR | c.3400G>A (p.Val1134Ile) c.3235G>A (p.Val1079Ile) n.1593G>A c.3403G>A (p.Val1135Ile) c.3238G>A (p.Val1080Ile) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.22116407_22116409delinsCTG | CA1770254571 | HR | c.3398_3400delinsCAG (p.Thr1133=) c.3233_3235delinsCAG (p.Thr1078=) n.1591_1593delinsCAG c.3401_3403delinsCAG (p.Thr1134=) c.3236_3238delinsCAG (p.Thr1079=) | |
8 | g.22116408T>A | CA459904818 | HR | c.3399A>T (p.Thr1133=) c.3234A>T (p.Thr1078=) n.1592A>T c.3402A>T (p.Thr1134=) c.3237A>T (p.Thr1079=) | |
8 | g.22116408T>C | CA459904820 | HR | c.3399A>G (p.Thr1133=) c.3234A>G (p.Thr1078=) n.1592A>G c.3402A>G (p.Thr1134=) c.3237A>G (p.Thr1079=) | |
8 | g.22116408T>G | CA459904821 | HR | c.3399A>C (p.Thr1133=) c.3234A>C (p.Thr1078=) n.1592A>C c.3402A>C (p.Thr1134=) c.3237A>C (p.Thr1079=) | |
8 | g.22116408_22116410del | CA2686428769 | HR | c.3397_3399del (p.Thr1133del) c.3232_3234del (p.Thr1078del) n.1590_1592del c.3400_3402del (p.Thr1134del) c.3235_3237del (p.Thr1079del) | gnomAD v4 |
8 | g.22116410_22116411del | CA580534509 | HR | c.3398_3399del (p.Thr1133SerfsTer11) c.3233_3234del (p.Thr1078SerfsTer11) n.1591_1592del c.3401_3402del (p.Thr1134SerfsTer11) c.3236_3237del (p.Thr1079SerfsTer11) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.22116409G>A | CA370514135 | HR | c.3398C>T (p.Thr1133Ile) c.3233C>T (p.Thr1078Ile) n.1591C>T c.3401C>T (p.Thr1134Ile) c.3236C>T (p.Thr1079Ile) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
8 | g.22116409G>C | CA370514137 | HR | c.3398C>G (p.Thr1133Arg) c.3233C>G (p.Thr1078Arg) n.1591C>G c.3401C>G (p.Thr1134Arg) c.3236C>G (p.Thr1079Arg) | gnomAD v4 |
8 | g.22116409G= | CA1770254578 | HR | c.3398C= (p.Thr1133=) c.3233C= (p.Thr1078=) n.1591C= c.3401C= (p.Thr1134=) c.3236C= (p.Thr1079=) | |
8 | g.22116409G>T | CA370514139 | HR | c.3398C>A (p.Thr1133Lys) c.3233C>A (p.Thr1078Lys) n.1591C>A c.3401C>A (p.Thr1134Lys) c.3236C>A (p.Thr1079Lys) | |
8 | g.22116410T>A | CA370514144 | HR | c.3397A>T (p.Thr1133Ser) c.3232A>T (p.Thr1078Ser) n.1590A>T c.3400A>T (p.Thr1134Ser) c.3235A>T (p.Thr1079Ser) | |
8 | g.22116410T>C | CA370514145 | HR | c.3397A>G (p.Thr1133Ala) c.3232A>G (p.Thr1078Ala) n.1590A>G c.3400A>G (p.Thr1134Ala) c.3235A>G (p.Thr1079Ala) | |
8 | g.22116410T>G | CA370514141 | HR | c.3397A>C (p.Thr1133Pro) c.3232A>C (p.Thr1078Pro) n.1590A>C c.3400A>C (p.Thr1134Pro) c.3235A>C (p.Thr1079Pro) |