UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.110168320_110172666del | CA2580616537 | COL4A1 | c.3556+54_3877-1090del c.3364+54_3685-1090del | ClinVar |
| 13 | g.110169621T>C | CA2623672740 | COL4A1 | c.3876+8A>G (n.3876+8A>G) c.32+8A>G c.3684+8A>G (n.3684+8A>G) | gnomAD v4 |
| 13 | g.110169622A= | CA2118732705 | COL4A1 | c.3876+7T= (n.3876+7T=) c.32+7T= c.3684+7T= (n.3684+7T=) | |
| 13 | g.110169622A>G | CA695031829 | COL4A1 | c.3876+7T>C (n.3876+7T>C) c.32+7T>C c.3684+7T>C (n.3684+7T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.110169624C>G | CA2623672741 | COL4A1 | c.3876+5G>C (n.3876+5G>C) c.32+5G>C c.3684+5G>C (n.3684+5G>C) | gnomAD v4 |
| 13 | g.110169627A>C | CA388661671 | COL4A1 | c.3876+2T>G (n.3876+2T>G) c.32+2T>G c.3684+2T>G (n.3684+2T>G) | |
| 13 | g.110169627A>G | CA388661672 | COL4A1 | c.3876+2T>C (n.3876+2T>C) c.32+2T>C c.3684+2T>C (n.3684+2T>C) | |
| 13 | g.110169627A>T | CA388661673 | COL4A1 | c.3876+2T>A (n.3876+2T>A) c.32+2T>A c.3684+2T>A (n.3684+2T>A) | |
| 13 | g.110169628C>A | CA388661674 | COL4A1 | c.3876+1G>T (n.3876+1G>T) c.32+1G>T c.3684+1G>T (n.3684+1G>T) | |
| 13 | g.110169628C>G | CA388661675 | COL4A1 | c.3876+1G>C (n.3876+1G>C) c.32+1G>C c.3684+1G>C (n.3684+1G>C) | |
| 13 | g.110169628C>T | CA388661676 | COL4A1 | c.3876+1G>A (n.3876+1G>A) c.32+1G>A c.3684+1G>A (n.3684+1G>A) | gnomAD v4 |
| 13 | g.110169629A>C | CA484788694 | COL4A1 | c.3876T>G (p.Pro1292=) c.32T>G c.3684T>G (p.Pro1228=) | |
| 13 | g.110169629A>G | CA484788695 | COL4A1 | c.3876T>C (p.Pro1292=) c.32T>C c.3684T>C (p.Pro1228=) | |
| 13 | g.110169629A>T | CA484788696 | COL4A1 | c.3876T>A (p.Pro1292=) c.32T>A c.3684T>A (p.Pro1228=) | |
| 13 | g.110169630G>A | CA388661679 | COL4A1 | c.3875C>T (p.Pro1292Leu) c.31C>T c.3683C>T (p.Pro1228Leu) | |
| 13 | g.110169630G>C | CA388661678 | COL4A1 | c.3875C>G (p.Pro1292Arg) c.31C>G c.3683C>G (p.Pro1228Arg) | |
| 13 | g.110169630G>T | CA388661677 | COL4A1 | c.3875C>A (p.Pro1292His) c.31C>A c.3683C>A (p.Pro1228His) | |
| 13 | g.110169631G>A | CA388661680 | COL4A1 | c.3874C>T (p.Pro1292Ser) c.30C>T c.3682C>T (p.Pro1228Ser) | |
| 13 | g.110169631G>C | CA388661681 | COL4A1 | c.3874C>G (p.Pro1292Ala) c.30C>G c.3682C>G (p.Pro1228Ala) | |
| 13 | g.110169631G= | CA2118732709 | COL4A1 | c.3874C= (p.Pro1292=) c.30C= c.3682C= (p.Pro1228=) | |
| 13 | g.110169631G>T | CA7047127 | COL4A1 | c.3874C>A (p.Pro1292Thr) c.30C>A c.3682C>A (p.Pro1228Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110169632C>A | CA388661682 | COL4A1 | c.3873G>T (p.Met1291Ile) c.29G>T c.3681G>T (p.Met1227Ile) | |
| 13 | g.110169632C>G | CA388661683 | COL4A1 | c.3873G>C (p.Met1291Ile) c.29G>C c.3681G>C (p.Met1227Ile) | |
| 13 | g.110169632C>T | CA388661684 | COL4A1 | c.3873G>A (p.Met1291Ile) c.29G>A c.3681G>A (p.Met1227Ile) | gnomAD v4 |
| 13 | g.110169633A>C | CA388661685 | COL4A1 | c.3872T>G (p.Met1291Arg) c.28T>G c.3680T>G (p.Met1227Arg) | |
| 13 | g.110169633A>G | CA388661686 | COL4A1 | c.3872T>C (p.Met1291Thr) c.28T>C c.3680T>C (p.Met1227Thr) | gnomAD v4 |
| 13 | g.110169633A>T | CA388661687 | COL4A1 | c.3872T>A (p.Met1291Lys) c.28T>A c.3680T>A (p.Met1227Lys) | |
| 13 | g.110169634T>A | CA388661688 | COL4A1 | c.3871A>T (p.Met1291Leu) c.27A>T c.3679A>T (p.Met1227Leu) | |
| 13 | g.110169634T>C | CA7047128 | COL4A1 | c.3871A>G (p.Met1291Val) c.27A>G c.3679A>G (p.Met1227Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110169634T>G | CA388661689 | COL4A1 | c.3871A>C (p.Met1291Leu) c.27A>C c.3679A>C (p.Met1227Leu) | |
| 13 | g.110169634T= | CA2118732711 | COL4A1 | c.3871A= (p.Met1291=) c.27A= c.3679A= (p.Met1227=) | |
| 13 | g.110169635G>A | CA484788697 | COL4A1 | c.3870C>T (p.Gly1290=) c.26C>T c.3678C>T (p.Gly1226=) | |
| 13 | g.110169635G>C | CA484788698 | COL4A1 | c.3870C>G (p.Gly1290=) c.26C>G c.3678C>G (p.Gly1226=) | |
| 13 | g.110169635G>T | CA484788699 | COL4A1 | c.3870C>A (p.Gly1290=) c.26C>A c.3678C>A (p.Gly1226=) | ClinVar |
| 13 | g.110169636C>A | CA388661692 | COL4A1 | c.3869G>T (p.Gly1290Val) c.25G>T c.3677G>T (p.Gly1226Val) | |
| 13 | g.110169636C>G | CA388661691 | COL4A1 | c.3869G>C (p.Gly1290Ala) c.25G>C c.3677G>C (p.Gly1226Ala) | |
| 13 | g.110169636C>T | CA388661690 | COL4A1 | c.3869G>A (p.Gly1290Asp) c.25G>A c.3677G>A (p.Gly1226Asp) | |
| 13 | g.110169637C>A | CA388661693 | COL4A1 | c.3868G>T (p.Gly1290Cys) c.24G>T c.3676G>T (p.Gly1226Cys) | |
| 13 | g.110169637C>G | CA388661695 | COL4A1 | c.3868G>C (p.Gly1290Arg) c.24G>C c.3676G>C (p.Gly1226Arg) | |
| 13 | g.110169637C>T | CA388661694 | COL4A1 | c.3868G>A (p.Gly1290Ser) c.24G>A c.3676G>A (p.Gly1226Ser) | gnomAD v4 COSMIC COSMIC |
| 13 | g.110169638C>A | CA388661696 | COL4A1 | c.3867G>T (p.Gln1289His) c.23G>T c.3675G>T (p.Gln1225His) | |
| 13 | g.110169638C>G | CA388661697 | COL4A1 | c.3867G>C (p.Gln1289His) c.23G>C c.3675G>C (p.Gln1225His) | gnomAD v4 |
| 13 | g.110169638C>T | CA484788700 | COL4A1 | c.3867G>A (p.Gln1289=) c.23G>A c.3675G>A (p.Gln1225=) | |
| 13 | g.110169639T>A | CA388661698 | COL4A1 | c.3866A>T (p.Gln1289Leu) c.22A>T c.3674A>T (p.Gln1225Leu) | |
| 13 | g.110169639T>C | CA388661699 | COL4A1 | c.3866A>G (p.Gln1289Arg) c.22A>G c.3674A>G (p.Gln1225Arg) | dbSNP |
| 13 | g.110169639T>G | CA388661700 | COL4A1 | c.3866A>C (p.Gln1289Pro) c.22A>C c.3674A>C (p.Gln1225Pro) | |
| 13 | g.110169639T= | CA2118732718 | COL4A1 | c.3866A= (p.Gln1289=) c.22A= c.3674A= (p.Gln1225=) | |
| 13 | g.110169640G>A | CA388661701 | COL4A1 | c.3865C>T (p.Gln1289Ter) c.21C>T c.3673C>T (p.Gln1225Ter) | |
| 13 | g.110169640G>C | CA388661702 | COL4A1 | c.3865C>G (p.Gln1289Glu) c.21C>G c.3673C>G (p.Gln1225Glu) | |
| 13 | g.110169640G>T | CA388661703 | COL4A1 | c.3865C>A (p.Gln1289Lys) c.21C>A c.3673C>A (p.Gln1225Lys) | |
| 13 | g.110169641G>A | CA484788701 | COL4A1 | c.3864C>T (p.Phe1288=) c.20C>T c.3672C>T (p.Phe1224=) | |
| 13 | g.110169641G>C | CA388661704 | COL4A1 | c.3864C>G (p.Phe1288Leu) c.20C>G c.3672C>G (p.Phe1224Leu) | |
| 13 | g.110169641G>T | CA388661705 | COL4A1 | c.3864C>A (p.Phe1288Leu) c.20C>A c.3672C>A (p.Phe1224Leu) | |
| 13 | g.110169642A>C | CA388661708 | COL4A1 | c.3863T>G (p.Phe1288Cys) c.19T>G c.3671T>G (p.Phe1224Cys) | |
| 13 | g.110169642A>G | CA388661707 | COL4A1 | c.3863T>C (p.Phe1288Ser) c.19T>C c.3671T>C (p.Phe1224Ser) | |
| 13 | g.110169642A>T | CA388661706 | COL4A1 | c.3863T>A (p.Phe1288Tyr) c.19T>A c.3671T>A (p.Phe1224Tyr) | |
| 13 | g.110169643A>C | CA388661709 | COL4A1 | c.3862T>G (p.Phe1288Val) c.18T>G c.3670T>G (p.Phe1224Val) | |
| 13 | g.110169643A>G | CA388661710 | COL4A1 | c.3862T>C (p.Phe1288Leu) c.18T>C c.3670T>C (p.Phe1224Leu) | |
| 13 | g.110169643A>T | CA388661711 | COL4A1 | c.3862T>A (p.Phe1288Ile) c.18T>A c.3670T>A (p.Phe1224Ile) | |
| 13 | g.110169644T>A | CA484788702 | COL4A1 | c.3861A>T (p.Gly1287=) c.17A>T c.3669A>T (p.Gly1223=) | |
| 13 | g.110169644T>C | CA484788704 | COL4A1 | c.3861A>G (p.Gly1287=) c.17A>G c.3669A>G (p.Gly1223=) | ClinVar dbSNP |
| 13 | g.110169644T>G | CA484788703 | COL4A1 | c.3861A>C (p.Gly1287=) c.17A>C c.3669A>C (p.Gly1223=) | |
| 13 | g.110169645C>A | CA388661712 | COL4A1 | c.3860G>T (p.Gly1287Val) c.16G>T c.3668G>T (p.Gly1223Val) | COSMIC COSMIC |
| 13 | g.110169645C>G | CA388661713 | COL4A1 | c.3860G>C (p.Gly1287Ala) c.16G>C c.3668G>C (p.Gly1223Ala) | gnomAD v4 |
| 13 | g.110169645C>T | CA388661714 | COL4A1 | c.3860G>A (p.Gly1287Glu) c.16G>A c.3668G>A (p.Gly1223Glu) | |
| 13 | g.110169646C>A | CA388661715 | COL4A1 | c.3859G>T (p.Gly1287Ter) c.15G>T c.3667G>T (p.Gly1223Ter) | |
| 13 | g.110169646C>G | CA388661716 | COL4A1 | c.3859G>C (p.Gly1287Arg) c.15G>C c.3667G>C (p.Gly1223Arg) | |
| 13 | g.110169646C>T | CA388661717 | COL4A1 | c.3859G>A (p.Gly1287Arg) c.15G>A c.3667G>A (p.Gly1223Arg) | |
| 13 | g.110169647A>C | CA484788705 | COL4A1 | c.3858T>G (p.Pro1286=) c.14T>G c.3666T>G (p.Pro1222=) | |
| 13 | g.110169647A>G | CA484788706 | COL4A1 | c.3858T>C (p.Pro1286=) c.14T>C c.3666T>C (p.Pro1222=) | |
| 13 | g.110169647A>T | CA484788707 | COL4A1 | c.3858T>A (p.Pro1286=) c.14T>A c.3666T>A (p.Pro1222=) | |
| 13 | g.110169648G>A | CA388661718 | COL4A1 | c.3857C>T (p.Pro1286Leu) c.13C>T c.3665C>T (p.Pro1222Leu) | |
| 13 | g.110169648G>C | CA388661719 | COL4A1 | c.3857C>G (p.Pro1286Arg) c.13C>G c.3665C>G (p.Pro1222Arg) | gnomAD v4 |
| 13 | g.110169648G= | CA2118732722 | COL4A1 | c.3857C= (p.Pro1286=) c.13C= c.3665C= (p.Pro1222=) | |
| 13 | g.110169648G>T | CA16619610 | COL4A1 | c.3857C>A (p.Pro1286His) c.13C>A c.3665C>A (p.Pro1222His) | ClinVar dbSNP gnomAD v4 |
| 13 | g.110169649G>A | CA388661721 | COL4A1 | c.3856C>T (p.Pro1286Ser) c.12C>T c.3664C>T (p.Pro1222Ser) | dbSNP gnomAD v4 |
| 13 | g.110169649G>C | CA388661722 | COL4A1 | c.3856C>G (p.Pro1286Ala) c.12C>G c.3664C>G (p.Pro1222Ala) | |
| 13 | g.110169649G= | CA2118732727 | COL4A1 | c.3856C= (p.Pro1286=) c.12C= c.3664C= (p.Pro1222=) | |
| 13 | g.110169649G>T | CA388661720 | COL4A1 | c.3856C>A (p.Pro1286Thr) c.12C>A c.3664C>A (p.Pro1222Thr) | |
| 13 | g.110169650G>A | CA484788708 | COL4A1 | c.3855C>T (p.Asp1285=) c.11C>T c.3663C>T (p.Asp1221=) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.110169650G>C | CA388661723 | COL4A1 | c.3855C>G (p.Asp1285Glu) c.11C>G c.3663C>G (p.Asp1221Glu) | |
| 13 | g.110169650G= | CA2118732730 | COL4A1 | c.3855C= (p.Asp1285=) c.11C= c.3663C= (p.Asp1221=) | |
| 13 | g.110169650G>T | CA388661724 | COL4A1 | c.3855C>A (p.Asp1285Glu) c.11C>A c.3663C>A (p.Asp1221Glu) | |
| 13 | g.110169651T>A | CA388661725 | COL4A1 | c.3854A>T (p.Asp1285Val) c.10A>T c.3662A>T (p.Asp1221Val) | |
| 13 | g.110169651T>C | CA388661726 | COL4A1 | c.3854A>G (p.Asp1285Gly) c.10A>G c.3662A>G (p.Asp1221Gly) | |
| 13 | g.110169651T>G | CA388661727 | COL4A1 | c.3854A>C (p.Asp1285Ala) c.10A>C c.3662A>C (p.Asp1221Ala) | |
| 13 | g.110169652C>A | CA388661728 | COL4A1 | c.3853G>T (p.Asp1285Tyr) c.9G>T c.3661G>T (p.Asp1221Tyr) | |
| 13 | g.110169652C>G | CA388661729 | COL4A1 | c.3853G>C (p.Asp1285His) c.9G>C c.3661G>C (p.Asp1221His) | |
| 13 | g.110169652C>T | CA388661730 | COL4A1 | c.3853G>A (p.Asp1285Asn) c.9G>A c.3661G>A (p.Asp1221Asn) | COSMIC COSMIC |
| 13 | g.110169653T>A | CA484788709 | COL4A1 | c.3852A>T (p.Gly1284=) c.8A>T c.3660A>T (p.Gly1220=) | |
| 13 | g.110169653T>C | CA484788710 | COL4A1 | c.3852A>G (p.Gly1284=) c.8A>G c.3660A>G (p.Gly1220=) | |
| 13 | g.110169653T>G | CA484788711 | COL4A1 | c.3852A>C (p.Gly1284=) c.8A>C c.3660A>C (p.Gly1220=) | |
| 13 | g.110169654C>A | CA388661731 | COL4A1 | c.3851G>T (p.Gly1284Val) c.7G>T c.3659G>T (p.Gly1220Val) | |
| 13 | g.110169654C>G | CA388661732 | COL4A1 | c.3851G>C (p.Gly1284Ala) c.7G>C c.3659G>C (p.Gly1220Ala) | |
| 13 | g.110169654C>T | CA388661733 | COL4A1 | c.3851G>A (p.Gly1284Glu) c.7G>A c.3659G>A (p.Gly1220Glu) | ClinVar COSMIC COSMIC |
| 13 | g.110169655C>A | CA388661734 | COL4A1 | c.3850G>T (p.Gly1284Ter) c.6G>T c.3658G>T (p.Gly1220Ter) | |
| 13 | g.110169655C>G | CA388661735 | COL4A1 | c.3850G>C (p.Gly1284Arg) c.6G>C c.3658G>C (p.Gly1220Arg) | |
| 13 | g.110169655C>T | CA388661736 | COL4A1 | c.3850G>A (p.Gly1284Arg) c.6G>A c.3658G>A (p.Gly1220Arg) | ClinVar dbSNP |
| 13 | g.110169656C>A | CA388661737 | COL4A1 | c.3849G>T (p.Lys1283Asn) c.5G>T c.3657G>T (p.Lys1219Asn) | |
| 13 | g.110169656C>G | CA388661738 | COL4A1 | c.3849G>C (p.Lys1283Asn) c.5G>C c.3657G>C (p.Lys1219Asn) | |
| 13 | g.110169656C>T | CA484788712 | COL4A1 | c.3849G>A (p.Lys1283=) c.5G>A c.3657G>A (p.Lys1219=) | |
| 13 | g.110169657T>A | CA388661739 | COL4A1 | c.3848A>T (p.Lys1283Met) c.4A>T c.3656A>T (p.Lys1219Met) | |
| 13 | g.110169657T>C | CA256250801 | COL4A1 | c.3848A>G (p.Lys1283Arg) c.4A>G c.3656A>G (p.Lys1219Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110169657T>G | CA388661740 | COL4A1 | c.3848A>C (p.Lys1283Thr) c.4A>C c.3656A>C (p.Lys1219Thr) | |
| 13 | g.110169657T= | CA2118732731 | COL4A1 | c.3848A= (p.Lys1283=) c.4A= c.3656A= (p.Lys1219=) | |
| 13 | g.110169658T>A | CA388661741 | COL4A1 | c.3847A>T (p.Lys1283Ter) c.3A>T c.3655A>T (p.Lys1219Ter) | |
| 13 | g.110169658T>C | CA388661742 | COL4A1 | c.3847A>G (p.Lys1283Glu) c.3A>G c.3655A>G (p.Lys1219Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.110169658T>G | CA388661743 | COL4A1 | c.3847A>C (p.Lys1283Gln) c.3A>C c.3655A>C (p.Lys1219Gln) | |
| 13 | g.110169658T= | CA2118732735 | COL4A1 | c.3847A= (p.Lys1283=) c.3A= c.3655A= (p.Lys1219=) | |
| 13 | g.110169659G>A | CA484788713 | COL4A1 | c.3846C>T (p.Pro1282=) c.2C>T c.3654C>T (p.Pro1218=) | gnomAD v4 |
| 13 | g.110169659G>C | CA484788714 | COL4A1 | c.3846C>G (p.Pro1282=) c.2C>G c.3654C>G (p.Pro1218=) | |
| 13 | g.110169659G>T | CA484788715 | COL4A1 | c.3846C>A (p.Pro1282=) c.2C>A c.3654C>A (p.Pro1218=) | |
| 13 | g.110169660G>A | CA388661744 | COL4A1 | c.3845C>T (p.Pro1282Leu) c.1C>T c.3653C>T (p.Pro1218Leu) | dbSNP |
| 13 | g.110169660G>C | CA388661745 | COL4A1 | c.3845C>G (p.Pro1282Arg) c.1C>G c.3653C>G (p.Pro1218Arg) | |
| 13 | g.110169660G= | CA2118732739 | COL4A1 | c.3845C= (p.Pro1282=) c.1C= c.3653C= (p.Pro1218=) | |
| 13 | g.110169660G>T | CA388661746 | COL4A1 | c.3845C>A (p.Pro1282His) c.1C>A c.3653C>A (p.Pro1218His) | |
| 13 | g.110169661G>A | CA388661747 | COL4A1 | c.3844C>T (p.Pro1282Ser) c.3652C>T (p.Pro1218Ser) | gnomAD v4 |
| 13 | g.110169661G>C | CA388661748 | COL4A1 | c.3844C>G (p.Pro1282Ala) c.3652C>G (p.Pro1218Ala) | |
| 13 | g.110169661G>T | CA388661749 | COL4A1 | c.3844C>A (p.Pro1282Thr) c.3652C>A (p.Pro1218Thr) | |
| 13 | g.110169662C>A | CA484788716 | COL4A1 | c.3843G>T (p.Gly1281=) c.3651G>T (p.Gly1217=) | |
| 13 | g.110169662C= | CA2118732741 | COL4A1 | c.3843G= (p.Gly1281=) c.3651G= (p.Gly1217=) | |
| 13 | g.110169662C>G | CA484788717 | COL4A1 | c.3843G>C (p.Gly1281=) c.3651G>C (p.Gly1217=) | |
| 13 | g.110169662C>T | CA7047129 | COL4A1 | c.3843G>A (p.Gly1281=) c.3651G>A (p.Gly1217=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110169663C>A | CA388661751 | COL4A1 | c.3842G>T (p.Gly1281Val) c.3650G>T (p.Gly1217Val) | |
| 13 | g.110169663C>G | CA388661752 | COL4A1 | c.3842G>C (p.Gly1281Ala) c.3650G>C (p.Gly1217Ala) | |
| 13 | g.110169663C>T | CA388661750 | COL4A1 | c.3842G>A (p.Gly1281Glu) c.3650G>A (p.Gly1217Glu) | |
| 13 | g.110169664C>A | CA388661754 | COL4A1 | c.3841G>T (p.Gly1281Trp) c.3649G>T (p.Gly1217Trp) | |
| 13 | g.110169664C>G | CA388661753 | COL4A1 | c.3841G>C (p.Gly1281Arg) c.3649G>C (p.Gly1217Arg) | |
| 13 | g.110169664C>T | CA388661755 | COL4A1 | c.3841G>A (p.Gly1281Arg) c.3649G>A (p.Gly1217Arg) | |
| 13 | g.110169665T>A | CA484788719 | COL4A1 | c.3840A>T (p.Pro1280=) c.3648A>T (p.Pro1216=) | |
| 13 | g.110169665T>C | CA484788720 | COL4A1 | c.3840A>G (p.Pro1280=) c.3648A>G (p.Pro1216=) | |
| 13 | g.110169665T>G | CA484788718 | COL4A1 | c.3840A>C (p.Pro1280=) c.3648A>C (p.Pro1216=) | |
| 13 | g.110169666G>A | CA388661756 | COL4A1 | c.3839C>T (p.Pro1280Leu) c.3647C>T (p.Pro1216Leu) | |
| 13 | g.110169666G>C | CA388661758 | COL4A1 | c.3839C>G (p.Pro1280Arg) c.3647C>G (p.Pro1216Arg) | |
| 13 | g.110169666G>T | CA388661757 | COL4A1 | c.3839C>A (p.Pro1280Gln) c.3647C>A (p.Pro1216Gln) | |
| 13 | g.110169668del | CA2740098032 | COL4A1 | c.3839del (p.Pro1280GlnfsTer?) c.3647del (p.Pro1216GlnfsTer?) | |
| 13 | g.110169667G>A | CA388661759 | COL4A1 | c.3838C>T (p.Pro1280Ser) c.3646C>T (p.Pro1216Ser) | |
| 13 | g.110169667G>C | CA388661760 | COL4A1 | c.3838C>G (p.Pro1280Ala) c.3646C>G (p.Pro1216Ala) | |
| 13 | g.110169667G>T | CA388661761 | COL4A1 | c.3838C>A (p.Pro1280Thr) c.3646C>A (p.Pro1216Thr) | |
| 13 | g.110169668G>A | CA484788721 | COL4A1 | c.3837C>T (p.Val1279=) c.3645C>T (p.Val1215=) | dbSNP gnomAD v4 |
| 13 | g.110169668G>C | CA484788722 | COL4A1 | c.3837C>G (p.Val1279=) c.3645C>G (p.Val1215=) | |
| 13 | g.110169668G= | CA2118732743 | COL4A1 | c.3837C= (p.Val1279=) c.3645C= (p.Val1215=) | |
| 13 | g.110169668G>T | CA484788723 | COL4A1 | c.3837C>A (p.Val1279=) c.3645C>A (p.Val1215=) | |
| 13 | g.110169669A= | CA2118732745 | COL4A1 | c.3836T= (p.Val1279=) c.3644T= (p.Val1215=) | |
| 13 | g.110169669A>C | CA388661762 | COL4A1 | c.3836T>G (p.Val1279Gly) c.3644T>G (p.Val1215Gly) | |
| 13 | g.110169669A>G | CA388661763 | COL4A1 | c.3836T>C (p.Val1279Ala) c.3644T>C (p.Val1215Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.110169669A>T | CA388661764 | COL4A1 | c.3836T>A (p.Val1279Asp) c.3644T>A (p.Val1215Asp) | gnomAD v4 |
| 13 | g.110169670C>A | CA388661765 | COL4A1 | c.3835G>T (p.Val1279Phe) c.3643G>T (p.Val1215Phe) | |
| 13 | g.110169670C= | CA2118732748 | COL4A1 | c.3835G= (p.Val1279=) c.3643G= (p.Val1215=) | |
| 13 | g.110169670C>G | CA388661766 | COL4A1 | c.3835G>C (p.Val1279Leu) c.3643G>C (p.Val1215Leu) | |
| 13 | g.110169670C>T | CA388661767 | COL4A1 | c.3835G>A (p.Val1279Ile) c.3643G>A (p.Val1215Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.110169671A= | CA2118732751 | COL4A1 | c.3834T= (p.Gly1278=) c.3642T= (p.Gly1214=) | |
| 13 | g.110169671A>C | CA7047130 | COL4A1 | c.3834T>G (p.Gly1278=) c.3642T>G (p.Gly1214=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.110169671A>G | CA484788724 | COL4A1 | c.3834T>C (p.Gly1278=) c.3642T>C (p.Gly1214=) | COSMIC COSMIC |
| 13 | g.110169671A>T | CA484788725 | COL4A1 | c.3834T>A (p.Gly1278=) c.3642T>A (p.Gly1214=) | |
| 13 | g.110169672C>A | CA388661768 | COL4A1 | c.3833G>T (p.Gly1278Val) c.3641G>T (p.Gly1214Val) | |
| 13 | g.110169672C>G | CA388661769 | COL4A1 | c.3833G>C (p.Gly1278Ala) c.3641G>C (p.Gly1214Ala) | |
| 13 | g.110169672C>T | CA388661770 | COL4A1 | c.3833G>A (p.Gly1278Asp) c.3641G>A (p.Gly1214Asp) | |
| 13 | g.110169673C>A | CA388661772 | COL4A1 | c.3832G>T (p.Gly1278Cys) c.3640G>T (p.Gly1214Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.110169673C= | CA2118732755 | COL4A1 | c.3832G= (p.Gly1278=) c.3640G= (p.Gly1214=) | |
| 13 | g.110169673C>G | CA388661771 | COL4A1 | c.3832G>C (p.Gly1278Arg) c.3640G>C (p.Gly1214Arg) | gnomAD v4 |
| 13 | g.110169673C>T | CA7047131 | COL4A1 | c.3832G>A (p.Gly1278Ser) c.3640G>A (p.Gly1214Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110169674G>A | CA7047132 | COL4A1 | c.3831C>T (p.Pro1277=) c.3639C>T (p.Pro1213=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110169674G>C | CA484788726 | COL4A1 | c.3831C>G (p.Pro1277=) c.3639C>G (p.Pro1213=) | dbSNP |
| 13 | g.110169674G= | CA2118732760 | COL4A1 | c.3831C= (p.Pro1277=) c.3639C= (p.Pro1213=) | |
| 13 | g.110169674G>T | CA484788727 | COL4A1 | c.3831C>A (p.Pro1277=) c.3639C>A (p.Pro1213=) | |
| 13 | g.110169675G>A | CA256250814 | COL4A1 | c.3830C>T (p.Pro1277Leu) c.3638C>T (p.Pro1213Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 13 | g.110169675G>C | CA388661773 | COL4A1 | c.3830C>G (p.Pro1277Arg) c.3638C>G (p.Pro1213Arg) | |
| 13 | g.110169675G= | CA2118732764 | COL4A1 | c.3830C= (p.Pro1277=) c.3638C= (p.Pro1213=) | |
| 13 | g.110169675G>T | CA388661774 | COL4A1 | c.3830C>A (p.Pro1277His) c.3638C>A (p.Pro1213His) | |
| 13 | g.110169676G>A | CA388661775 | COL4A1 | c.3829C>T (p.Pro1277Ser) c.3637C>T (p.Pro1213Ser) | gnomAD v4 |
| 13 | g.110169676G>C | CA388661776 | COL4A1 | c.3829C>G (p.Pro1277Ala) c.3637C>G (p.Pro1213Ala) | |
| 13 | g.110169676G>T | CA388661777 | COL4A1 | c.3829C>A (p.Pro1277Thr) c.3637C>A (p.Pro1213Thr) | |
| 13 | g.110169677T>A | CA484788728 | COL4A1 | c.3828A>T (p.Ala1276=) c.3636A>T (p.Ala1212=) | |
| 13 | g.110169677T>C | CA484788729 | COL4A1 | c.3828A>G (p.Ala1276=) c.3636A>G (p.Ala1212=) | |
| 13 | g.110169677T>G | CA484788730 | COL4A1 | c.3828A>C (p.Ala1276=) c.3636A>C (p.Ala1212=) | |
| 13 | g.110169678G>A | CA388661778 | COL4A1 | c.3827C>T (p.Ala1276Val) c.3635C>T (p.Ala1212Val) | |
| 13 | g.110169678G>C | CA388661779 | COL4A1 | c.3827C>G (p.Ala1276Gly) c.3635C>G (p.Ala1212Gly) | |
| 13 | g.110169678G>T | CA388661780 | COL4A1 | c.3827C>A (p.Ala1276Glu) c.3635C>A (p.Ala1212Glu) | |
| 13 | g.110169679C>A | CA388661781 | COL4A1 | c.3826G>T (p.Ala1276Ser) c.3634G>T (p.Ala1212Ser) | |
| 13 | g.110169679C>G | CA388661782 | COL4A1 | c.3826G>C (p.Ala1276Pro) c.3634G>C (p.Ala1212Pro) | |
| 13 | g.110169679C>T | CA388661783 | COL4A1 | c.3826G>A (p.Ala1276Thr) c.3634G>A (p.Ala1212Thr) | gnomAD v4 |
| 13 | g.110169680T>A | CA484788731 | COL4A1 | c.3825A>T (p.Gly1275=) c.3633A>T (p.Gly1211=) | |
| 13 | g.110169680T>C | CA484788732 | COL4A1 | c.3825A>G (p.Gly1275=) c.3633A>G (p.Gly1211=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.110169680T>G | CA484788733 | COL4A1 | c.3825A>C (p.Gly1275=) c.3633A>C (p.Gly1211=) | |
| 13 | g.110169680T= | CA2118732766 | COL4A1 | c.3825A= (p.Gly1275=) c.3633A= (p.Gly1211=) | |
| 13 | g.110169681C>A | CA388661785 | COL4A1 | c.3824G>T (p.Gly1275Val) c.3632G>T (p.Gly1211Val) | |
| 13 | g.110169681C>G | CA388661786 | COL4A1 | c.3824G>C (p.Gly1275Ala) c.3632G>C (p.Gly1211Ala) | |
| 13 | g.110169681C>T | CA388661784 | COL4A1 | c.3824G>A (p.Gly1275Glu) c.3632G>A (p.Gly1211Glu) | |
| 13 | g.110169682C>A | CA388661787 | COL4A1 | c.3823G>T (p.Gly1275Ter) c.3631G>T (p.Gly1211Ter) | |
| 13 | g.110169682C>G | CA388661788 | COL4A1 | c.3823G>C (p.Gly1275Arg) c.3631G>C (p.Gly1211Arg) | |
| 13 | g.110169682C>T | CA388661789 | COL4A1 | c.3823G>A (p.Gly1275Arg) c.3631G>A (p.Gly1211Arg) | |
| 13 | g.110169683T>A | CA484788734 | COL4A1 | c.3822A>T (p.Pro1274=) c.3630A>T (p.Pro1210=) | |
| 13 | g.110169683T>C | CA7047134 | COL4A1 | c.3822A>G (p.Pro1274=) c.3630A>G (p.Pro1210=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.110169683T>G | CA7047133 | COL4A1 | c.3822A>C (p.Pro1274=) c.3630A>C (p.Pro1210=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.110169683T= | CA2118732771 | COL4A1 | c.3822A= (p.Pro1274=) c.3630A= (p.Pro1210=) | |
| 13 | g.110169684G>A | CA388661790 | COL4A1 | c.3821C>T (p.Pro1274Leu) c.3629C>T (p.Pro1210Leu) | |
| 13 | g.110169684G>C | CA7047135 | COL4A1 | c.3821C>G (p.Pro1274Arg) c.3629C>G (p.Pro1210Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.110169684G= | CA2118732778 | COL4A1 | c.3821C= (p.Pro1274=) c.3629C= (p.Pro1210=) | |
| 13 | g.110169684G>T | CA388661791 | COL4A1 | c.3821C>A (p.Pro1274Gln) c.3629C>A (p.Pro1210Gln) | |
| 13 | g.110169685G>A | CA256250821 | COL4A1 | c.3820C>T (p.Pro1274Ser) c.3628C>T (p.Pro1210Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110169685G>C | CA388661792 | COL4A1 | c.3820C>G (p.Pro1274Ala) c.3628C>G (p.Pro1210Ala) | |
| 13 | g.110169685G= | CA2118732782 | COL4A1 | c.3820C= (p.Pro1274=) c.3628C= (p.Pro1210=) | |
| 13 | g.110169685G>T | CA388661793 | COL4A1 | c.3820C>A (p.Pro1274Thr) c.3628C>A (p.Pro1210Thr) | |
| 13 | g.110169686C>A | CA388661796 | COL4A1 | c.3819G>T (p.Trp1273Cys) c.3627G>T (p.Trp1209Cys) | |
| 13 | g.110169686C>G | CA388661795 | COL4A1 | c.3819G>C (p.Trp1273Cys) c.3627G>C (p.Trp1209Cys) | |
| 13 | g.110169686C>T | CA388661794 | COL4A1 | c.3819G>A (p.Trp1273Ter) c.3627G>A (p.Trp1209Ter) | |
| 13 | g.110169687C>A | CA388661797 | COL4A1 | c.3818G>T (p.Trp1273Leu) c.3626G>T (p.Trp1209Leu) | |
| 13 | g.110169687C>G | CA388661798 | COL4A1 | c.3818G>C (p.Trp1273Ser) c.3626G>C (p.Trp1209Ser) | |
| 13 | g.110169687C>T | CA388661799 | COL4A1 | c.3818G>A (p.Trp1273Ter) c.3626G>A (p.Trp1209Ter) | |
| 13 | g.110169688A>C | CA388661800 | COL4A1 | c.3817T>G (p.Trp1273Gly) c.3625T>G (p.Trp1209Gly) | |
| 13 | g.110169688A>G | CA388661801 | COL4A1 | c.3817T>C (p.Trp1273Arg) c.3625T>C (p.Trp1209Arg) | |
| 13 | g.110169688A>T | CA388661802 | COL4A1 | c.3817T>A (p.Trp1273Arg) c.3625T>A (p.Trp1209Arg) | |
| 13 | g.110169689G>A | CA484788738 | COL4A1 | c.3816C>T (p.Gly1272=) c.3624C>T (p.Gly1208=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.110169689G>C | CA484788739 | COL4A1 | c.3816C>G (p.Gly1272=) c.3624C>G (p.Gly1208=) | |
| 13 | g.110169689G= | CA2118732785 | COL4A1 | c.3816C= (p.Gly1272=) c.3624C= (p.Gly1208=) | |
| 13 | g.110169689G>T | CA484788740 | COL4A1 | c.3816C>A (p.Gly1272=) c.3624C>A (p.Gly1208=) | |
| 13 | g.110169690C>A | CA388661803 | COL4A1 | c.3815G>T (p.Gly1272Val) c.3623G>T (p.Gly1208Val) | COSMIC COSMIC |
| 13 | g.110169690C= | CA2118732790 | COL4A1 | c.3815G= (p.Gly1272=) c.3623G= (p.Gly1208=) | |
| 13 | g.110169690C>G | CA7047136 | COL4A1 | c.3815G>C (p.Gly1272Ala) c.3623G>C (p.Gly1208Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.110169690C>T | CA388661804 | COL4A1 | c.3815G>A (p.Gly1272Asp) c.3623G>A (p.Gly1208Asp) | |
| 13 | g.110169691C>A | CA388661805 | COL4A1 | c.3814G>T (p.Gly1272Cys) c.3622G>T (p.Gly1208Cys) | COSMIC COSMIC |
| 13 | g.110169691C>G | CA388661806 | COL4A1 | c.3814G>C (p.Gly1272Arg) c.3622G>C (p.Gly1208Arg) | |
| 13 | g.110169691C>T | CA388661807 | COL4A1 | c.3814G>A (p.Gly1272Ser) c.3622G>A (p.Gly1208Ser) | |
| 13 | g.110169692T>A | CA484788744 | COL4A1 | c.3813A>T (p.Pro1271=) c.3621A>T (p.Pro1207=) | |
| 13 | g.110169692T>C | CA484788745 | COL4A1 | c.3813A>G (p.Pro1271=) c.3621A>G (p.Pro1207=) | gnomAD v4 |
| 13 | g.110169692T>G | CA484788746 | COL4A1 | c.3813A>C (p.Pro1271=) c.3621A>C (p.Pro1207=) | |
| 13 | g.110169693G>A | CA388661810 | COL4A1 | c.3812C>T (p.Pro1271Leu) c.3620C>T (p.Pro1207Leu) | ClinVar |
| 13 | g.110169693G>C | CA388661809 | COL4A1 | c.3812C>G (p.Pro1271Arg) c.3620C>G (p.Pro1207Arg) | |
| 13 | g.110169693G>T | CA388661808 | COL4A1 | c.3812C>A (p.Pro1271Gln) c.3620C>A (p.Pro1207Gln) | |
| 13 | g.110169694G>A | CA388661812 | COL4A1 | c.3811C>T (p.Pro1271Ser) c.3619C>T (p.Pro1207Ser) | gnomAD v4 |
| 13 | g.110169694G>C | CA388661811 | COL4A1 | c.3811C>G (p.Pro1271Ala) c.3619C>G (p.Pro1207Ala) | gnomAD v4 |
| 13 | g.110169694G>T | CA388661813 | COL4A1 | c.3811C>A (p.Pro1271Thr) c.3619C>A (p.Pro1207Thr) | |
| 13 | g.110169695A>C | CA388661814 | COL4A1 | c.3810T>G (p.Asn1270Lys) c.3618T>G (p.Asn1206Lys) | |
| 13 | g.110169695A>G | CA484788748 | COL4A1 | c.3810T>C (p.Asn1270=) c.3618T>C (p.Asn1206=) | |
| 13 | g.110169695A>T | CA388661816 | COL4A1 | c.3810T>A (p.Asn1270Lys) c.3618T>A (p.Asn1206Lys) | ClinVar gnomAD v4 |
| 13 | g.110169696T>A | CA388661818 | COL4A1 | c.3809A>T (p.Asn1270Ile) c.3617A>T (p.Asn1206Ile) | |
| 13 | g.110169696T>C | CA388661820 | COL4A1 | c.3809A>G (p.Asn1270Ser) c.3617A>G (p.Asn1206Ser) | |
| 13 | g.110169696T>G | CA388661822 | COL4A1 | c.3809A>C (p.Asn1270Thr) c.3617A>C (p.Asn1206Thr) | |
| 13 | g.110169697T>A | CA388661824 | COL4A1 | c.3808A>T (p.Asn1270Tyr) c.3616A>T (p.Asn1206Tyr) | |
| 13 | g.110169697T>C | CA388661826 | COL4A1 | c.3808A>G (p.Asn1270Asp) c.3616A>G (p.Asn1206Asp) | |
| 13 | g.110169697T>G | CA388661827 | COL4A1 | c.3808A>C (p.Asn1270His) c.3616A>C (p.Asn1206His) | |
| 13 | g.110169698T>A | CA484788753 | COL4A1 | c.3807A>T (p.Gly1269=) c.3615A>T (p.Gly1205=) | |
| 13 | g.110169698T>C | CA484788755 | COL4A1 | c.3807A>G (p.Gly1269=) c.3615A>G (p.Gly1205=) | |
| 13 | g.110169698T>G | CA484788754 | COL4A1 | c.3807A>C (p.Gly1269=) c.3615A>C (p.Gly1205=) | |
| 13 | g.110169699C>A | CA388661830 | COL4A1 | c.3806G>T (p.Gly1269Val) c.3614G>T (p.Gly1205Val) | |
| 13 | g.110169699C>G | CA388661832 | COL4A1 | c.3806G>C (p.Gly1269Ala) c.3614G>C (p.Gly1205Ala) | |
| 13 | g.110169699C>T | CA388661834 | COL4A1 | c.3806G>A (p.Gly1269Glu) c.3614G>A (p.Gly1205Glu) | ClinVar dbSNP |
| 13 | g.110169700C>A | CA388661836 | COL4A1 | c.3805G>T (p.Gly1269Ter) c.3613G>T (p.Gly1205Ter) | |
| 13 | g.110169700C>G | CA388661837 | COL4A1 | c.3805G>C (p.Gly1269Arg) c.3613G>C (p.Gly1205Arg) | |
| 13 | g.110169700C>T | CA388661839 | COL4A1 | c.3805G>A (p.Gly1269Arg) c.3613G>A (p.Gly1205Arg) | |
| 13 | g.110169701T>A | CA388661841 | COL4A1 | c.3804A>T (p.Lys1268Asn) c.3612A>T (p.Lys1204Asn) | |
| 13 | g.110169701T>C | CA484788757 | COL4A1 | c.3804A>G (p.Lys1268=) c.3612A>G (p.Lys1204=) | |
| 13 | g.110169701T>G | CA388661842 | COL4A1 | c.3804A>C (p.Lys1268Asn) c.3612A>C (p.Lys1204Asn) | |
| 13 | g.110169702T>A | CA388661845 | COL4A1 | c.3803A>T (p.Lys1268Ile) c.3611A>T (p.Lys1204Ile) | |
| 13 | g.110169702T>C | CA388661847 | COL4A1 | c.3803A>G (p.Lys1268Arg) c.3611A>G (p.Lys1204Arg) | |
| 13 | g.110169702T>G | CA388661849 | COL4A1 | c.3803A>C (p.Lys1268Thr) c.3611A>C (p.Lys1204Thr) | |
| 13 | g.110169703T>A | CA388661851 | COL4A1 | c.3802A>T (p.Lys1268Ter) c.3610A>T (p.Lys1204Ter) | |
| 13 | g.110169703T>C | CA388661852 | COL4A1 | c.3802A>G (p.Lys1268Glu) c.3610A>G (p.Lys1204Glu) | |
| 13 | g.110169703T>G | CA388661854 | COL4A1 | c.3802A>C (p.Lys1268Gln) c.3610A>C (p.Lys1204Gln) | |
| 13 | g.110169704G>A | CA484788760 | COL4A1 | c.3801C>T (p.Asp1267=) c.3609C>T (p.Asp1203=) | gnomAD v4 |
| 13 | g.110169704G>C | CA388661856 | COL4A1 | c.3801C>G (p.Asp1267Glu) c.3609C>G (p.Asp1203Glu) | COSMIC COSMIC |
| 13 | g.110169704G= | CA2118732793 | COL4A1 | c.3801C= (p.Asp1267=) c.3609C= (p.Asp1203=) | |
| 13 | g.110169704G>T | CA7047137 | COL4A1 | c.3801C>A (p.Asp1267Glu) c.3609C>A (p.Asp1203Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.110169705T>A | CA388661858 | COL4A1 | c.3800A>T (p.Asp1267Val) c.3608A>T (p.Asp1203Val) | dbSNP |
| 13 | g.110169705T>C | CA388661860 | COL4A1 | c.3800A>G (p.Asp1267Gly) c.3608A>G (p.Asp1203Gly) | |
| 13 | g.110169705T>G | CA388661862 | COL4A1 | c.3800A>C (p.Asp1267Ala) c.3608A>C (p.Asp1203Ala) | |
| 13 | g.110169706C>A | CA388661868 | COL4A1 | c.3799G>T (p.Asp1267Tyr) c.3607G>T (p.Asp1203Tyr) | |
| 13 | g.110169706C>G | CA388661866 | COL4A1 | c.3799G>C (p.Asp1267His) c.3607G>C (p.Asp1203His) | |
| 13 | g.110169706C>T | CA388661864 | COL4A1 | c.3799G>A (p.Asp1267Asn) c.3607G>A (p.Asp1203Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.110169707A= | CA2118732796 | COL4A1 | c.3798T= (p.Gly1266=) c.3606T= (p.Gly1202=) | |
| 13 | g.110169707A>C | CA484788762 | COL4A1 | c.3798T>G (p.Gly1266=) c.3606T>G (p.Gly1202=) | |
| 13 | g.110169707A>G | CA484788764 | COL4A1 | c.3798T>C (p.Gly1266=) c.3606T>C (p.Gly1202=) | COSMIC COSMIC |
| 13 | g.110169707A>T | CA484788765 | COL4A1 | c.3798T>A (p.Gly1266=) c.3606T>A (p.Gly1202=) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.110169708C>A | CA388661870 | COL4A1 | c.3797G>T (p.Gly1266Val) c.3605G>T (p.Gly1202Val) | |
| 13 | g.110169708C= | CA2118732801 | COL4A1 | c.3797G= (p.Gly1266=) c.3605G= (p.Gly1202=) | |
| 13 | g.110169708C>G | CA388661872 | COL4A1 | c.3797G>C (p.Gly1266Ala) c.3605G>C (p.Gly1202Ala) | |
| 13 | g.110169708C>T | CA16042819 | COL4A1 | c.3797G>A (p.Gly1266Asp) c.3605G>A (p.Gly1202Asp) | ClinVar dbSNP |
| 13 | g.110169709C>A | CA388661874 | COL4A1 | c.3796G>T (p.Gly1266Cys) c.3604G>T (p.Gly1202Cys) | |
| 13 | g.110169709C>G | CA388661875 | COL4A1 | c.3796G>C (p.Gly1266Arg) c.3604G>C (p.Gly1202Arg) | ClinVar |
| 13 | g.110169709C>T | CA388661877 | COL4A1 | c.3796G>A (p.Gly1266Ser) c.3604G>A (p.Gly1202Ser) | |
| 13 | g.110169710T>A | CA388661881 | COL4A1 | c.3795A>T (p.Lys1265Asn) c.3603A>T (p.Lys1201Asn) | |
| 13 | g.110169710T>C | CA484788766 | COL4A1 | c.3795A>G (p.Lys1265=) c.3603A>G (p.Lys1201=) | |
| 13 | g.110169710T>G | CA388661879 | COL4A1 | c.3795A>C (p.Lys1265Asn) c.3603A>C (p.Lys1201Asn) | |
| 13 | g.110169711T>A | CA388661883 | COL4A1 | c.3794A>T (p.Lys1265Ile) c.3602A>T (p.Lys1201Ile) | |
| 13 | g.110169711T>C | CA388661885 | COL4A1 | c.3794A>G (p.Lys1265Arg) c.3602A>G (p.Lys1201Arg) | |
| 13 | g.110169711T>G | CA388661887 | COL4A1 | c.3794A>C (p.Lys1265Thr) c.3602A>C (p.Lys1201Thr) | dbSNP |
| 13 | g.110169711T= | CA2118732805 | COL4A1 | c.3794A= (p.Lys1265=) c.3602A= (p.Lys1201=) | |
| 13 | g.110169712T>A | CA388661888 | COL4A1 | c.3793A>T (p.Lys1265Ter) c.3601A>T (p.Lys1201Ter) | |
| 13 | g.110169712T>C | CA388661890 | COL4A1 | c.3793A>G (p.Lys1265Glu) c.3601A>G (p.Lys1201Glu) | gnomAD v4 |
| 13 | g.110169712T>G | CA388661891 | COL4A1 | c.3793A>C (p.Lys1265Gln) c.3601A>C (p.Lys1201Gln) | |
| 13 | g.110169713A>C | CA484788769 | COL4A1 | c.3792T>G (p.Val1264=) c.3600T>G (p.Val1200=) | |
| 13 | g.110169713A>G | CA484788770 | COL4A1 | c.3792T>C (p.Val1264=) c.3600T>C (p.Val1200=) | |
| 13 | g.110169713A>T | CA484788771 | COL4A1 | c.3792T>A (p.Val1264=) c.3600T>A (p.Val1200=) | |
| 13 | g.110169714A= | CA2118732807 | COL4A1 | c.3791T= (p.Val1264=) c.3599T= (p.Val1200=) | |
| 13 | g.110169714A>C | CA388661893 | COL4A1 | c.3791T>G (p.Val1264Gly) c.3599T>G (p.Val1200Gly) | dbSNP gnomAD v2 |
| 13 | g.110169714A>G | CA388661897 | COL4A1 | c.3791T>C (p.Val1264Ala) c.3599T>C (p.Val1200Ala) | |
| 13 | g.110169714A>T | CA388661895 | COL4A1 | c.3791T>A (p.Val1264Asp) c.3599T>A (p.Val1200Asp) | |
| 13 | g.110169715C>A | CA388661899 | COL4A1 | c.3790G>T (p.Val1264Phe) c.3598G>T (p.Val1200Phe) | |
| 13 | g.110169715C>G | CA388661900 | COL4A1 | c.3790G>C (p.Val1264Leu) c.3598G>C (p.Val1200Leu) | |
| 13 | g.110169715C>T | CA388661902 | COL4A1 | c.3790G>A (p.Val1264Ile) c.3598G>A (p.Val1200Ile) | |
| 13 | g.110169716T>A | CA484788772 | COL4A1 | c.3789A>T (p.Gly1263=) c.3597A>T (p.Gly1199=) | |
| 13 | g.110169716T>C | CA484788773 | COL4A1 | c.3789A>G (p.Gly1263=) c.3597A>G (p.Gly1199=) | |
| 13 | g.110169716T>G | CA484788774 | COL4A1 | c.3789A>C (p.Gly1263=) c.3597A>C (p.Gly1199=) | |
| 13 | g.110169717C>A | CA388661904 | COL4A1 | c.3788G>T (p.Gly1263Val) c.3596G>T (p.Gly1199Val) | |
| 13 | g.110169717C>G | CA388661906 | COL4A1 | c.3788G>C (p.Gly1263Ala) c.3596G>C (p.Gly1199Ala) | |
| 13 | g.110169717C>T | CA388661908 | COL4A1 | c.3788G>A (p.Gly1263Glu) c.3596G>A (p.Gly1199Glu) | |
| 13 | g.110169718C>A | CA388661910 | COL4A1 | c.3787G>T (p.Gly1263Ter) c.3595G>T (p.Gly1199Ter) | |
| 13 | g.110169718C>G | CA388661912 | COL4A1 | c.3787G>C (p.Gly1263Arg) c.3595G>C (p.Gly1199Arg) | |
| 13 | g.110169718C>T | CA388661914 | COL4A1 | c.3787G>A (p.Gly1263Arg) c.3595G>A (p.Gly1199Arg) | |
| 13 | g.110169719A>C | CA388661916 | COL4A1 | c.3786T>G (p.Asp1262Glu) c.3594T>G (p.Asp1198Glu) | |
| 13 | g.110169719A>G | CA484788775 | COL4A1 | c.3786T>C (p.Asp1262=) c.3594T>C (p.Asp1198=) | |
| 13 | g.110169719A>T | CA388661918 | COL4A1 | c.3786T>A (p.Asp1262Glu) c.3594T>A (p.Asp1198Glu) | |
| 13 | g.110169720T>A | CA388661922 | COL4A1 | c.3785A>T (p.Asp1262Val) c.3593A>T (p.Asp1198Val) | |
| 13 | g.110169720T>C | CA388661924 | COL4A1 | c.3785A>G (p.Asp1262Gly) c.3593A>G (p.Asp1198Gly) | |
| 13 | g.110169720T>G | CA388661920 | COL4A1 | c.3785A>C (p.Asp1262Ala) c.3593A>C (p.Asp1198Ala) | |
| 13 | g.110169721C>A | CA388661926 | COL4A1 | c.3784G>T (p.Asp1262Tyr) c.3592G>T (p.Asp1198Tyr) | |
| 13 | g.110169721C= | CA2118732809 | COL4A1 | c.3784G= (p.Asp1262=) c.3592G= (p.Asp1198=) | |
| 13 | g.110169721C>G | CA7047138 | COL4A1 | c.3784G>C (p.Asp1262His) c.3592G>C (p.Asp1198His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.110169721C>T | CA388661927 | COL4A1 | c.3784G>A (p.Asp1262Asn) c.3592G>A (p.Asp1198Asn) |