Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108668320_108668505delCA2695235652COL4A5c.3606_3790+1del
c.3282_3466+1del
c.1179_1363+1del
c.3621_3805+1del
c.1941_2125+1del
Xg.108668359T>ACA413848485COL4A5c.3645T>A (p.Asn1215Lys)
c.3321T>A (p.Asn1107Lys)
c.1218T>A (p.Asn406Lys)
c.3660T>A (p.Asn1220Lys)
c.1980T>A (p.Asn660Lys)
Xg.108668359T>CCA517922574COL4A5c.3645T>C (p.Asn1215=)
c.3321T>C (p.Asn1107=)
c.1218T>C (p.Asn406=)
c.3660T>C (p.Asn1220=)
c.1980T>C (p.Asn660=)
Xg.108668359T>GCA413848486COL4A5c.3645T>G (p.Asn1215Lys)
c.3321T>G (p.Asn1107Lys)
c.1218T>G (p.Asn406Lys)
c.3660T>G (p.Asn1220Lys)
c.1980T>G (p.Asn660Lys)
Xg.108668359_108668360delinsTCCA2450712930COL4A5c.3645_3646delinsTC (p.Asn1215=)
c.3321_3322delinsTC (p.Asn1107=)
c.1218_1219delinsTC (p.Asn406=)
c.3660_3661delinsTC (p.Asn1220=)
c.1980_1981delinsTC (p.Asn660=)
Xg.108668360C>ACA413848489COL4A5c.3646C>A (p.Pro1216Thr)
c.3322C>A (p.Pro1108Thr)
c.1219C>A (p.Pro407Thr)
c.3661C>A (p.Pro1221Thr)
c.1981C>A (p.Pro661Thr)
Xg.108668360C=CA2450712931COL4A5c.3646C= (p.Pro1216=)
c.3322C= (p.Pro1108=)
c.1219C= (p.Pro407=)
c.3661C= (p.Pro1221=)
c.1981C= (p.Pro661=)
Xg.108668360C>GCA413848491COL4A5c.3646C>G (p.Pro1216Ala)
c.3322C>G (p.Pro1108Ala)
c.1219C>G (p.Pro407Ala)
c.3661C>G (p.Pro1221Ala)
c.1981C>G (p.Pro661Ala)
Xg.108668360C>TCA10489156COL4A5c.3646C>T (p.Pro1216Ser)
c.3322C>T (p.Pro1108Ser)
c.1219C>T (p.Pro407Ser)
c.3661C>T (p.Pro1221Ser)
c.1981C>T (p.Pro661Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
Xg.108668361delCA258919COL4A5c.3647del (p.Pro1216LeufsTer?)
c.3323del (p.Pro1108LeufsTer?)
c.1220del (p.Pro407LeufsTer?)
c.3662del (p.Pro1221LeufsTer?)
c.1982del (p.Pro661LeufsTer?)
 dbSNP
Xg.108668361C>ACA413848495COL4A5c.3647C>A (p.Pro1216His)
c.3323C>A (p.Pro1108His)
c.1220C>A (p.Pro407His)
c.3662C>A (p.Pro1221His)
c.1982C>A (p.Pro661His)
Xg.108668361C=CA2450712932COL4A5c.3647C= (p.Pro1216=)
c.3323C= (p.Pro1108=)
c.1220C= (p.Pro407=)
c.3662C= (p.Pro1221=)
c.1982C= (p.Pro661=)
Xg.108668361C>GCA413848497COL4A5c.3647C>G (p.Pro1216Arg)
c.3323C>G (p.Pro1108Arg)
c.1220C>G (p.Pro407Arg)
c.3662C>G (p.Pro1221Arg)
c.1982C>G (p.Pro661Arg)
Xg.108668361C>TCA413848499COL4A5c.3647C>T (p.Pro1216Leu)
c.3323C>T (p.Pro1108Leu)
c.1220C>T (p.Pro407Leu)
c.3662C>T (p.Pro1221Leu)
c.1982C>T (p.Pro661Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108668362T>ACA517922575COL4A5c.3648T>A (p.Pro1216=)
c.3324T>A (p.Pro1108=)
c.1221T>A (p.Pro407=)
c.3663T>A (p.Pro1221=)
c.1983T>A (p.Pro661=)
Xg.108668362T>CCA517922576COL4A5c.3648T>C (p.Pro1216=)
c.3324T>C (p.Pro1108=)
c.1221T>C (p.Pro407=)
c.3663T>C (p.Pro1221=)
c.1983T>C (p.Pro661=)
Xg.108668362T>GCA517922577COL4A5c.3648T>G (p.Pro1216=)
c.3324T>G (p.Pro1108=)
c.1221T>G (p.Pro407=)
c.3663T>G (p.Pro1221=)
c.1983T>G (p.Pro661=)
Xg.108668363G>ACA413848501COL4A5c.3649G>A (p.Gly1217Ser)
c.3325G>A (p.Gly1109Ser)
c.1222G>A (p.Gly408Ser)
c.3664G>A (p.Gly1222Ser)
c.1984G>A (p.Gly662Ser)
Xg.108668363G>CCA413848504COL4A5c.3649G>C (p.Gly1217Arg)
c.3325G>C (p.Gly1109Arg)
c.1222G>C (p.Gly408Arg)
c.3664G>C (p.Gly1222Arg)
c.1984G>C (p.Gly662Arg)
Xg.108668363G>TCA413848502COL4A5c.3649G>T (p.Gly1217Cys)
c.3325G>T (p.Gly1109Cys)
c.1222G>T (p.Gly408Cys)
c.3664G>T (p.Gly1222Cys)
c.1984G>T (p.Gly662Cys)
Xg.108668364G>ACA413848506COL4A5c.3650G>A (p.Gly1217Asp)
c.3326G>A (p.Gly1109Asp)
c.1223G>A (p.Gly408Asp)
c.3665G>A (p.Gly1222Asp)
c.1985G>A (p.Gly662Asp)
 ClinVar
Xg.108668364G>CCA413848508COL4A5c.3650G>C (p.Gly1217Ala)
c.3326G>C (p.Gly1109Ala)
c.1223G>C (p.Gly408Ala)
c.3665G>C (p.Gly1222Ala)
c.1985G>C (p.Gly662Ala)
Xg.108668364G=CA2450712933COL4A5c.3650G= (p.Gly1217=)
c.3326G= (p.Gly1109=)
c.1223G= (p.Gly408=)
c.3665G= (p.Gly1222=)
c.1985G= (p.Gly662=)
Xg.108668364G>TCA413848510COL4A5c.3650G>T (p.Gly1217Val)
c.3326G>T (p.Gly1109Val)
c.1223G>T (p.Gly408Val)
c.3665G>T (p.Gly1222Val)
c.1985G>T (p.Gly662Val)
Xg.108668365C>ACA517922578COL4A5c.3651C>A (p.Gly1217=)
c.3327C>A (p.Gly1109=)
c.1224C>A (p.Gly408=)
c.3666C>A (p.Gly1222=)
c.1986C>A (p.Gly662=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
Xg.108668365C=CA2450712934COL4A5c.3651C= (p.Gly1217=)
c.3327C= (p.Gly1109=)
c.1224C= (p.Gly408=)
c.3666C= (p.Gly1222=)
c.1986C= (p.Gly662=)
Xg.108668365C>GCA517922579COL4A5c.3651C>G (p.Gly1217=)
c.3327C>G (p.Gly1109=)
c.1224C>G (p.Gly408=)
c.3666C>G (p.Gly1222=)
c.1986C>G (p.Gly662=)
Xg.108668365C>TCA517922580COL4A5c.3651C>T (p.Gly1217=)
c.3327C>T (p.Gly1109=)
c.1224C>T (p.Gly408=)
c.3666C>T (p.Gly1222=)
c.1986C>T (p.Gly662=)
Xg.108668366C>ACA413848512COL4A5c.3652C>A (p.Leu1218Ile)
c.3328C>A (p.Leu1110Ile)
c.1225C>A (p.Leu409Ile)
c.3667C>A (p.Leu1223Ile)
c.1987C>A (p.Leu663Ile)
Xg.108668366C>GCA413848514COL4A5c.3652C>G (p.Leu1218Val)
c.3328C>G (p.Leu1110Val)
c.1225C>G (p.Leu409Val)
c.3667C>G (p.Leu1223Val)
c.1987C>G (p.Leu663Val)
Xg.108668366C>TCA413848516COL4A5c.3652C>T (p.Leu1218Phe)
c.3328C>T (p.Leu1110Phe)
c.1225C>T (p.Leu409Phe)
c.3667C>T (p.Leu1223Phe)
c.1987C>T (p.Leu663Phe)
 ClinVar dbSNP
Xg.108668369_108668394delCA2697544720COL4A5c.3655_3680del (p.Pro1219SerfsTer24)
c.3331_3356del (p.Pro1111SerfsTer24)
c.1228_1253del (p.Pro410SerfsTer24)
c.3670_3695del (p.Pro1224SerfsTer24)
c.1990_2015del (p.Pro664SerfsTer24)
 ClinVar
Xg.108668367T>ACA413848520COL4A5c.3653T>A (p.Leu1218His)
c.3329T>A (p.Leu1110His)
c.1226T>A (p.Leu409His)
c.3668T>A (p.Leu1223His)
c.1988T>A (p.Leu663His)
Xg.108668367T>CCA413848522COL4A5c.3653T>C (p.Leu1218Pro)
c.3329T>C (p.Leu1110Pro)
c.1226T>C (p.Leu409Pro)
c.3668T>C (p.Leu1223Pro)
c.1988T>C (p.Leu663Pro)
Xg.108668367T>GCA413848523COL4A5c.3653T>G (p.Leu1218Arg)
c.3329T>G (p.Leu1110Arg)
c.1226T>G (p.Leu409Arg)
c.3668T>G (p.Leu1223Arg)
c.1988T>G (p.Leu663Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108668367T=CA2450712936COL4A5c.3653T= (p.Leu1218=)
c.3329T= (p.Leu1110=)
c.1226T= (p.Leu409=)
c.3668T= (p.Leu1223=)
c.1988T= (p.Leu663=)
Xg.108668367_108668439delinsTTCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTCCA2450712935COL4A5c.3653_3725delinsTTCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTC (p.Leu1218=)
c.3329_3401delinsTTCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTC (p.Leu1110=)
c.1226_1298delinsTTCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTC (p.Leu409=)
c.3668_3740delinsTTCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTC (p.Leu1223=)
c.1988_2060delinsTTCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTC (p.Leu663=)
Xg.108668368T>ACA517922643COL4A5c.3654T>A (p.Leu1218=)
c.3330T>A (p.Leu1110=)
c.1227T>A (p.Leu409=)
c.3669T>A (p.Leu1223=)
c.1989T>A (p.Leu663=)
Xg.108668368T>CCA517922645COL4A5c.3654T>C (p.Leu1218=)
c.3330T>C (p.Leu1110=)
c.1227T>C (p.Leu409=)
c.3669T>C (p.Leu1223=)
c.1989T>C (p.Leu663=)
Xg.108668368T>GCA517922646COL4A5c.3654T>G (p.Leu1218=)
c.3330T>G (p.Leu1110=)
c.1227T>G (p.Leu409=)
c.3669T>G (p.Leu1223=)
c.1989T>G (p.Leu663=)
Xg.108668371_108668442delCA258920COL4A5c.3657_3728del (p.Gly1220_Pro1243del)
c.3333_3404del (p.Gly1112_Pro1135del)
c.1230_1301del (p.Gly411_Pro434del)
c.3672_3743del (p.Gly1225_Pro1248del)
c.1992_2063del (p.Gly665_Pro688del)
 dbSNP
Xg.108668369C>ACA413848529COL4A5c.3655C>A (p.Pro1219Thr)
c.3331C>A (p.Pro1111Thr)
c.1228C>A (p.Pro410Thr)
c.3670C>A (p.Pro1224Thr)
c.1990C>A (p.Pro664Thr)
Xg.108668369C>GCA413848531COL4A5c.3655C>G (p.Pro1219Ala)
c.3331C>G (p.Pro1111Ala)
c.1228C>G (p.Pro410Ala)
c.3670C>G (p.Pro1224Ala)
c.1990C>G (p.Pro664Ala)
Xg.108668369C>TCA413848527COL4A5c.3655C>T (p.Pro1219Ser)
c.3331C>T (p.Pro1111Ser)
c.1228C>T (p.Pro410Ser)
c.3670C>T (p.Pro1224Ser)
c.1990C>T (p.Pro664Ser)
 COSMIC COSMIC
Xg.108668370delCA2579676917COL4A5c.3656del (p.Pro1219GlnfsTer?)
c.3332del (p.Pro1111GlnfsTer?)
c.1229del (p.Pro410GlnfsTer?)
c.3671del (p.Pro1224GlnfsTer?)
c.1991del (p.Pro664GlnfsTer?)
Xg.108668370C>ACA413848533COL4A5c.3656C>A (p.Pro1219Gln)
c.3332C>A (p.Pro1111Gln)
c.1229C>A (p.Pro410Gln)
c.3671C>A (p.Pro1224Gln)
c.1991C>A (p.Pro664Gln)
Xg.108668370C>GCA413848535COL4A5c.3656C>G (p.Pro1219Arg)
c.3332C>G (p.Pro1111Arg)
c.1229C>G (p.Pro410Arg)
c.3671C>G (p.Pro1224Arg)
c.1991C>G (p.Pro664Arg)
Xg.108668370C>TCA413848538COL4A5c.3656C>T (p.Pro1219Leu)
c.3332C>T (p.Pro1111Leu)
c.1229C>T (p.Pro410Leu)
c.3671C>T (p.Pro1224Leu)
c.1991C>T (p.Pro664Leu)
 ClinVar COSMIC COSMIC
Xg.108668371A>CCA517922650COL4A5c.3657A>C (p.Pro1219=)
c.3333A>C (p.Pro1111=)
c.1230A>C (p.Pro410=)
c.3672A>C (p.Pro1224=)
c.1992A>C (p.Pro664=)
Xg.108668371A>GCA517922652COL4A5c.3657A>G (p.Pro1219=)
c.3333A>G (p.Pro1111=)
c.1230A>G (p.Pro410=)
c.3672A>G (p.Pro1224=)
c.1992A>G (p.Pro664=)
 COSMIC COSMIC
Xg.108668371A>TCA517922654COL4A5c.3657A>T (p.Pro1219=)
c.3333A>T (p.Pro1111=)
c.1230A>T (p.Pro410=)
c.3672A>T (p.Pro1224=)
c.1992A>T (p.Pro664=)
Xg.108668372G>ACA413848541COL4A5c.3658G>A (p.Gly1220Ser)
c.3334G>A (p.Gly1112Ser)
c.1231G>A (p.Gly411Ser)
c.3673G>A (p.Gly1225Ser)
c.1993G>A (p.Gly665Ser)
Xg.108668372G>CCA413848543COL4A5c.3658G>C (p.Gly1220Arg)
c.3334G>C (p.Gly1112Arg)
c.1231G>C (p.Gly411Arg)
c.3673G>C (p.Gly1225Arg)
c.1993G>C (p.Gly665Arg)
Xg.108668372G>TCA413848545COL4A5c.3658G>T (p.Gly1220Cys)
c.3334G>T (p.Gly1112Cys)
c.1231G>T (p.Gly411Cys)
c.3673G>T (p.Gly1225Cys)
c.1993G>T (p.Gly665Cys)
Xg.108668373G>ACA258923COL4A5c.3659G>A (p.Gly1220Asp)
c.3335G>A (p.Gly1112Asp)
c.1232G>A (p.Gly411Asp)
c.3674G>A (p.Gly1225Asp)
c.1994G>A (p.Gly665Asp)
 ClinVar dbSNP
Xg.108668373G>CCA413848550COL4A5c.3659G>C (p.Gly1220Ala)
c.3335G>C (p.Gly1112Ala)
c.1232G>C (p.Gly411Ala)
c.3674G>C (p.Gly1225Ala)
c.1994G>C (p.Gly665Ala)
Xg.108668373G=CA2450712937COL4A5c.3659G= (p.Gly1220=)
c.3335G= (p.Gly1112=)
c.1232G= (p.Gly411=)
c.3674G= (p.Gly1225=)
c.1994G= (p.Gly665=)
Xg.108668373G>TCA413848553COL4A5c.3659G>T (p.Gly1220Val)
c.3335G>T (p.Gly1112Val)
c.1232G>T (p.Gly411Val)
c.3674G>T (p.Gly1225Val)
c.1994G>T (p.Gly665Val)
 ClinVar dbSNP
Xg.108668374T>ACA517922656COL4A5c.3660T>A (p.Gly1220=)
c.3336T>A (p.Gly1112=)
c.1233T>A (p.Gly411=)
c.3675T>A (p.Gly1225=)
c.1995T>A (p.Gly665=)
Xg.108668374T>CCA517922658COL4A5c.3660T>C (p.Gly1220=)
c.3336T>C (p.Gly1112=)
c.1233T>C (p.Gly411=)
c.3675T>C (p.Gly1225=)
c.1995T>C (p.Gly665=)
Xg.108668374T>GCA517922660COL4A5c.3660T>G (p.Gly1220=)
c.3336T>G (p.Gly1112=)
c.1233T>G (p.Gly411=)
c.3675T>G (p.Gly1225=)
c.1995T>G (p.Gly665=)
Xg.108668375C>ACA413848555COL4A5c.3661C>A (p.Pro1221Thr)
c.3337C>A (p.Pro1113Thr)
c.1234C>A (p.Pro412Thr)
c.3676C>A (p.Pro1226Thr)
c.1996C>A (p.Pro666Thr)
Xg.108668375C>GCA413848558COL4A5c.3661C>G (p.Pro1221Ala)
c.3337C>G (p.Pro1113Ala)
c.1234C>G (p.Pro412Ala)
c.3676C>G (p.Pro1226Ala)
c.1996C>G (p.Pro666Ala)
Xg.108668375C>TCA413848561COL4A5c.3661C>T (p.Pro1221Ser)
c.3337C>T (p.Pro1113Ser)
c.1234C>T (p.Pro412Ser)
c.3676C>T (p.Pro1226Ser)
c.1996C>T (p.Pro666Ser)
 COSMIC COSMIC
Xg.108668376C>ACA413848569COL4A5c.3662C>A (p.Pro1221Gln)
c.3338C>A (p.Pro1113Gln)
c.1235C>A (p.Pro412Gln)
c.3677C>A (p.Pro1226Gln)
c.1997C>A (p.Pro666Gln)
Xg.108668376C=CA2450712938COL4A5c.3662C= (p.Pro1221=)
c.3338C= (p.Pro1113=)
c.1235C= (p.Pro412=)
c.3677C= (p.Pro1226=)
c.1997C= (p.Pro666=)
Xg.108668376C>GCA413848564COL4A5c.3662C>G (p.Pro1221Arg)
c.3338C>G (p.Pro1113Arg)
c.1235C>G (p.Pro412Arg)
c.3677C>G (p.Pro1226Arg)
c.1997C>G (p.Pro666Arg)
Xg.108668376C>TCA334046767COL4A5c.3662C>T (p.Pro1221Leu)
c.3338C>T (p.Pro1113Leu)
c.1235C>T (p.Pro412Leu)
c.3677C>T (p.Pro1226Leu)
c.1997C>T (p.Pro666Leu)
 dbSNP
Xg.108668377A>CCA517922662COL4A5c.3663A>C (p.Pro1221=)
c.3339A>C (p.Pro1113=)
c.1236A>C (p.Pro412=)
c.3678A>C (p.Pro1226=)
c.1998A>C (p.Pro666=)
Xg.108668377A>GCA517922664COL4A5c.3663A>G (p.Pro1221=)
c.3339A>G (p.Pro1113=)
c.1236A>G (p.Pro412=)
c.3678A>G (p.Pro1226=)
c.1998A>G (p.Pro666=)
 gnomAD v4
Xg.108668377A>TCA517922666COL4A5c.3663A>T (p.Pro1221=)
c.3339A>T (p.Pro1113=)
c.1236A>T (p.Pro412=)
c.3678A>T (p.Pro1226=)
c.1998A>T (p.Pro666=)
Xg.108668378A=CA2450712939COL4A5c.3664A= (p.Lys1222=)
c.3340A= (p.Lys1114=)
c.1237A= (p.Lys413=)
c.3679A= (p.Lys1227=)
c.1999A= (p.Lys667=)
Xg.108668378A>CCA413848573COL4A5c.3664A>C (p.Lys1222Gln)
c.3340A>C (p.Lys1114Gln)
c.1237A>C (p.Lys413Gln)
c.3679A>C (p.Lys1227Gln)
c.1999A>C (p.Lys667Gln)
 gnomAD v4
Xg.108668378A>GCA413848576COL4A5c.3664A>G (p.Lys1222Glu)
c.3340A>G (p.Lys1114Glu)
c.1237A>G (p.Lys413Glu)
c.3679A>G (p.Lys1227Glu)
c.1999A>G (p.Lys667Glu)
 dbSNP gnomAD v3 gnomAD v4
Xg.108668378A>TCA413848579COL4A5c.3664A>T (p.Lys1222Ter)
c.3340A>T (p.Lys1114Ter)
c.1237A>T (p.Lys413Ter)
c.3679A>T (p.Lys1227Ter)
c.1999A>T (p.Lys667Ter)
Xg.108668379A>CCA413848582COL4A5c.3665A>C (p.Lys1222Thr)
c.3341A>C (p.Lys1114Thr)
c.1238A>C (p.Lys413Thr)
c.3680A>C (p.Lys1227Thr)
c.2000A>C (p.Lys667Thr)
Xg.108668379A>GCA413848584COL4A5c.3665A>G (p.Lys1222Arg)
c.3341A>G (p.Lys1114Arg)
c.1238A>G (p.Lys413Arg)
c.3680A>G (p.Lys1227Arg)
c.2000A>G (p.Lys667Arg)
Xg.108668379A>TCA413848587COL4A5c.3665A>T (p.Lys1222Met)
c.3341A>T (p.Lys1114Met)
c.1238A>T (p.Lys413Met)
c.3680A>T (p.Lys1227Met)
c.2000A>T (p.Lys667Met)
Xg.108668380G>ACA517922667COL4A5c.3666G>A (p.Lys1222=)
c.3342G>A (p.Lys1114=)
c.1239G>A (p.Lys413=)
c.3681G>A (p.Lys1227=)
c.2001G>A (p.Lys667=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
Xg.108668380G>CCA413848591COL4A5c.3666G>C (p.Lys1222Asn)
c.3342G>C (p.Lys1114Asn)
c.1239G>C (p.Lys413Asn)
c.3681G>C (p.Lys1227Asn)
c.2001G>C (p.Lys667Asn)
Xg.108668380G=CA2450712940COL4A5c.3666G= (p.Lys1222=)
c.3342G= (p.Lys1114=)
c.1239G= (p.Lys413=)
c.3681G= (p.Lys1227=)
c.2001G= (p.Lys667=)
Xg.108668380G>TCA413848593COL4A5c.3666G>T (p.Lys1222Asn)
c.3342G>T (p.Lys1114Asn)
c.1239G>T (p.Lys413Asn)
c.3681G>T (p.Lys1227Asn)
c.2001G>T (p.Lys667Asn)
Xg.108668381G>ACA413848597COL4A5c.3667G>A (p.Gly1223Ser)
c.3343G>A (p.Gly1115Ser)
c.1240G>A (p.Gly414Ser)
c.3682G>A (p.Gly1228Ser)
c.2002G>A (p.Gly668Ser)
 COSMIC COSMIC
Xg.108668381G>CCA413848598COL4A5c.3667G>C (p.Gly1223Arg)
c.3343G>C (p.Gly1115Arg)
c.1240G>C (p.Gly414Arg)
c.3682G>C (p.Gly1228Arg)
c.2002G>C (p.Gly668Arg)
Xg.108668381G>TCA413848601COL4A5c.3667G>T (p.Gly1223Cys)
c.3343G>T (p.Gly1115Cys)
c.1240G>T (p.Gly414Cys)
c.3682G>T (p.Gly1228Cys)
c.2002G>T (p.Gly668Cys)
Xg.108668382G>ACA413848611COL4A5c.3668G>A (p.Gly1223Asp)
c.3344G>A (p.Gly1115Asp)
c.1241G>A (p.Gly414Asp)
c.3683G>A (p.Gly1228Asp)
c.2003G>A (p.Gly668Asp)
 ClinVar dbSNP
Xg.108668382G>CCA413848607COL4A5c.3668G>C (p.Gly1223Ala)
c.3344G>C (p.Gly1115Ala)
c.1241G>C (p.Gly414Ala)
c.3683G>C (p.Gly1228Ala)
c.2003G>C (p.Gly668Ala)
Xg.108668382G=CA2450712941COL4A5c.3668G= (p.Gly1223=)
c.3344G= (p.Gly1115=)
c.1241G= (p.Gly414=)
c.3683G= (p.Gly1228=)
c.2003G= (p.Gly668=)
Xg.108668382G>TCA258925COL4A5c.3668G>T (p.Gly1223Val)
c.3344G>T (p.Gly1115Val)
c.1241G>T (p.Gly414Val)
c.3683G>T (p.Gly1228Val)
c.2003G>T (p.Gly668Val)
 dbSNP
Xg.108668383C>ACA517922668COL4A5c.3669C>A (p.Gly1223=)
c.3345C>A (p.Gly1115=)
c.1242C>A (p.Gly414=)
c.3684C>A (p.Gly1228=)
c.2004C>A (p.Gly668=)
 ClinVar
Xg.108668383C=CA2450712942COL4A5c.3669C= (p.Gly1223=)
c.3345C= (p.Gly1115=)
c.1242C= (p.Gly414=)
c.3684C= (p.Gly1228=)
c.2004C= (p.Gly668=)
Xg.108668383C>GCA517922669COL4A5c.3669C>G (p.Gly1223=)
c.3345C>G (p.Gly1115=)
c.1242C>G (p.Gly414=)
c.3684C>G (p.Gly1228=)
c.2004C>G (p.Gly668=)
Xg.108668383C>TCA10489157COL4A5c.3669C>T (p.Gly1223=)
c.3345C>T (p.Gly1115=)
c.1242C>T (p.Gly414=)
c.3684C>T (p.Gly1228=)
c.2004C>T (p.Gly668=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108668384G>ACA413848622COL4A5c.3670G>A (p.Glu1224Lys)
c.3346G>A (p.Glu1116Lys)
c.1243G>A (p.Glu415Lys)
c.3685G>A (p.Glu1229Lys)
c.2005G>A (p.Glu669Lys)
 dbSNP gnomAD v4 COSMIC COSMIC
Xg.108668384G>CCA413848617COL4A5c.3670G>C (p.Glu1224Gln)
c.3346G>C (p.Glu1116Gln)
c.1243G>C (p.Glu415Gln)
c.3685G>C (p.Glu1229Gln)
c.2005G>C (p.Glu669Gln)
Xg.108668384G=CA2450712943COL4A5c.3670G= (p.Glu1224=)
c.3346G= (p.Glu1116=)
c.1243G= (p.Glu415=)
c.3685G= (p.Glu1229=)
c.2005G= (p.Glu669=)
Xg.108668384G>TCA413848619COL4A5c.3670G>T (p.Glu1224Ter)
c.3346G>T (p.Glu1116Ter)
c.1243G>T (p.Glu415Ter)
c.3685G>T (p.Glu1229Ter)
c.2005G>T (p.Glu669Ter)
 ClinVar dbSNP
Xg.108668385A>CCA413848625COL4A5c.3671A>C (p.Glu1224Ala)
c.3347A>C (p.Glu1116Ala)
c.1244A>C (p.Glu415Ala)
c.3686A>C (p.Glu1229Ala)
c.2006A>C (p.Glu669Ala)
Xg.108668385A>GCA413848628COL4A5c.3671A>G (p.Glu1224Gly)
c.3347A>G (p.Glu1116Gly)
c.1244A>G (p.Glu415Gly)
c.3686A>G (p.Glu1229Gly)
c.2006A>G (p.Glu669Gly)
Xg.108668385A>TCA413848630COL4A5c.3671A>T (p.Glu1224Val)
c.3347A>T (p.Glu1116Val)
c.1244A>T (p.Glu415Val)
c.3686A>T (p.Glu1229Val)
c.2006A>T (p.Glu669Val)
Xg.108668386delCA2739289608COL4A5c.3672del (p.Glu1224AspfsTer?)
c.3348del (p.Glu1116AspfsTer?)
c.1245del (p.Glu415AspfsTer?)
c.3687del (p.Glu1229AspfsTer?)
c.2007del (p.Glu669AspfsTer?)
Xg.108668386A>CCA413848633COL4A5c.3672A>C (p.Glu1224Asp)
c.3348A>C (p.Glu1116Asp)
c.1245A>C (p.Glu415Asp)
c.3687A>C (p.Glu1229Asp)
c.2007A>C (p.Glu669Asp)
Xg.108668386A>GCA517922670COL4A5c.3672A>G (p.Glu1224=)
c.3348A>G (p.Glu1116=)
c.1245A>G (p.Glu415=)
c.3687A>G (p.Glu1229=)
c.2007A>G (p.Glu669=)
Xg.108668386A>TCA413848635COL4A5c.3672A>T (p.Glu1224Asp)
c.3348A>T (p.Glu1116Asp)
c.1245A>T (p.Glu415Asp)
c.3687A>T (p.Glu1229Asp)
c.2007A>T (p.Glu669Asp)
Xg.108668387C>ACA413848638COL4A5c.3673C>A (p.Pro1225Thr)
c.3349C>A (p.Pro1117Thr)
c.1246C>A (p.Pro416Thr)
c.3688C>A (p.Pro1230Thr)
c.2008C>A (p.Pro670Thr)
Xg.108668387C>GCA413848641COL4A5c.3673C>G (p.Pro1225Ala)
c.3349C>G (p.Pro1117Ala)
c.1246C>G (p.Pro416Ala)
c.3688C>G (p.Pro1230Ala)
c.2008C>G (p.Pro670Ala)
Xg.108668387C>TCA413848643COL4A5c.3673C>T (p.Pro1225Ser)
c.3349C>T (p.Pro1117Ser)
c.1246C>T (p.Pro416Ser)
c.3688C>T (p.Pro1230Ser)
c.2008C>T (p.Pro670Ser)
Xg.108668388C>ACA413848647COL4A5c.3674C>A (p.Pro1225Gln)
c.3350C>A (p.Pro1117Gln)
c.1247C>A (p.Pro416Gln)
c.3689C>A (p.Pro1230Gln)
c.2009C>A (p.Pro670Gln)
Xg.108668388C>GCA413848650COL4A5c.3674C>G (p.Pro1225Arg)
c.3350C>G (p.Pro1117Arg)
c.1247C>G (p.Pro416Arg)
c.3689C>G (p.Pro1230Arg)
c.2009C>G (p.Pro670Arg)
Xg.108668388C>TCA413848652COL4A5c.3674C>T (p.Pro1225Leu)
c.3350C>T (p.Pro1117Leu)
c.1247C>T (p.Pro416Leu)
c.3689C>T (p.Pro1230Leu)
c.2009C>T (p.Pro670Leu)
Xg.108668389A>CCA517922673COL4A5c.3675A>C (p.Pro1225=)
c.3351A>C (p.Pro1117=)
c.1248A>C (p.Pro416=)
c.3690A>C (p.Pro1230=)
c.2010A>C (p.Pro670=)
Xg.108668389A>GCA517922672COL4A5c.3675A>G (p.Pro1225=)
c.3351A>G (p.Pro1117=)
c.1248A>G (p.Pro416=)
c.3690A>G (p.Pro1230=)
c.2010A>G (p.Pro670=)
Xg.108668389A>TCA517922671COL4A5c.3675A>T (p.Pro1225=)
c.3351A>T (p.Pro1117=)
c.1248A>T (p.Pro416=)
c.3690A>T (p.Pro1230=)
c.2010A>T (p.Pro670=)
Xg.108668390G>ACA413848661COL4A5c.3676G>A (p.Gly1226Ser)
c.3352G>A (p.Gly1118Ser)
c.1249G>A (p.Gly417Ser)
c.3691G>A (p.Gly1231Ser)
c.2011G>A (p.Gly671Ser)
Xg.108668390G>CCA413848656COL4A5c.3676G>C (p.Gly1226Arg)
c.3352G>C (p.Gly1118Arg)
c.1249G>C (p.Gly417Arg)
c.3691G>C (p.Gly1231Arg)
c.2011G>C (p.Gly671Arg)
Xg.108668390G>TCA413848658COL4A5c.3676G>T (p.Gly1226Cys)
c.3352G>T (p.Gly1118Cys)
c.1249G>T (p.Gly417Cys)
c.3691G>T (p.Gly1231Cys)
c.2011G>T (p.Gly671Cys)
Xg.108668391G>ACA413848665COL4A5c.3677G>A (p.Gly1226Asp)
c.3353G>A (p.Gly1118Asp)
c.1250G>A (p.Gly417Asp)
c.3692G>A (p.Gly1231Asp)
c.2012G>A (p.Gly671Asp)
Xg.108668391G>CCA413848666COL4A5c.3677G>C (p.Gly1226Ala)
c.3353G>C (p.Gly1118Ala)
c.1250G>C (p.Gly417Ala)
c.3692G>C (p.Gly1231Ala)
c.2012G>C (p.Gly671Ala)
Xg.108668391G>TCA413848670COL4A5c.3677G>T (p.Gly1226Val)
c.3353G>T (p.Gly1118Val)
c.1250G>T (p.Gly417Val)
c.3692G>T (p.Gly1231Val)
c.2012G>T (p.Gly671Val)
Xg.108668392C>ACA517922674COL4A5c.3678C>A (p.Gly1226=)
c.3354C>A (p.Gly1118=)
c.1251C>A (p.Gly417=)
c.3693C>A (p.Gly1231=)
c.2013C>A (p.Gly671=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.108668392C=CA2450712944COL4A5c.3678C= (p.Gly1226=)
c.3354C= (p.Gly1118=)
c.1251C= (p.Gly417=)
c.3693C= (p.Gly1231=)
c.2013C= (p.Gly671=)
Xg.108668392C>GCA517922675COL4A5c.3678C>G (p.Gly1226=)
c.3354C>G (p.Gly1118=)
c.1251C>G (p.Gly417=)
c.3693C>G (p.Gly1231=)
c.2013C>G (p.Gly671=)
Xg.108668392C>TCA517922676COL4A5c.3678C>T (p.Gly1226=)
c.3354C>T (p.Gly1118=)
c.1251C>T (p.Gly417=)
c.3693C>T (p.Gly1231=)
c.2013C>T (p.Gly671=)
Xg.108668393T>ACA413848674COL4A5c.3679T>A (p.Phe1227Ile)
c.3355T>A (p.Phe1119Ile)
c.1252T>A (p.Phe418Ile)
c.3694T>A (p.Phe1232Ile)
c.2014T>A (p.Phe672Ile)
Xg.108668393T>CCA413848676COL4A5c.3679T>C (p.Phe1227Leu)
c.3355T>C (p.Phe1119Leu)
c.1252T>C (p.Phe418Leu)
c.3694T>C (p.Phe1232Leu)
c.2014T>C (p.Phe672Leu)
Xg.108668393T>GCA413848677COL4A5c.3679T>G (p.Phe1227Val)
c.3355T>G (p.Phe1119Val)
c.1252T>G (p.Phe418Val)
c.3694T>G (p.Phe1232Val)
c.2014T>G (p.Phe672Val)
 gnomAD v4
Xg.108668394T>ACA413848680COL4A5c.3680T>A (p.Phe1227Tyr)
c.3356T>A (p.Phe1119Tyr)
c.1253T>A (p.Phe418Tyr)
c.3695T>A (p.Phe1232Tyr)
c.2015T>A (p.Phe672Tyr)
Xg.108668394T>CCA413848683COL4A5c.3680T>C (p.Phe1227Ser)
c.3356T>C (p.Phe1119Ser)
c.1253T>C (p.Phe418Ser)
c.3695T>C (p.Phe1232Ser)
c.2015T>C (p.Phe672Ser)
 ClinVar gnomAD v4
Xg.108668394T>GCA413848684COL4A5c.3680T>G (p.Phe1227Cys)
c.3356T>G (p.Phe1119Cys)
c.1253T>G (p.Phe418Cys)
c.3695T>G (p.Phe1232Cys)
c.2015T>G (p.Phe672Cys)
Xg.108668395T>ACA413848689COL4A5c.3681T>A (p.Phe1227Leu)
c.3357T>A (p.Phe1119Leu)
c.1254T>A (p.Phe418Leu)
c.3696T>A (p.Phe1232Leu)
c.2016T>A (p.Phe672Leu)
Xg.108668395T>CCA517922677COL4A5c.3681T>C (p.Phe1227=)
c.3357T>C (p.Phe1119=)
c.1254T>C (p.Phe418=)
c.3696T>C (p.Phe1232=)
c.2016T>C (p.Phe672=)
Xg.108668395T>GCA413848700COL4A5c.3681T>G (p.Phe1227Leu)
c.3357T>G (p.Phe1119Leu)
c.1254T>G (p.Phe418Leu)
c.3696T>G (p.Phe1232Leu)
c.2016T>G (p.Phe672Leu)
Xg.108668396C>ACA413848708COL4A5c.3682C>A (p.His1228Asn)
c.3358C>A (p.His1120Asn)
c.1255C>A (p.His419Asn)
c.3697C>A (p.His1233Asn)
c.2017C>A (p.His673Asn)
Xg.108668396C>GCA413848705COL4A5c.3682C>G (p.His1228Asp)
c.3358C>G (p.His1120Asp)
c.1255C>G (p.His419Asp)
c.3697C>G (p.His1233Asp)
c.2017C>G (p.His673Asp)
Xg.108668396C>TCA413848703COL4A5c.3682C>T (p.His1228Tyr)
c.3358C>T (p.His1120Tyr)
c.1255C>T (p.His419Tyr)
c.3697C>T (p.His1233Tyr)
c.2017C>T (p.His673Tyr)
 gnomAD v4
Xg.108668397A>CCA413848714COL4A5c.3683A>C (p.His1228Pro)
c.3359A>C (p.His1120Pro)
c.1256A>C (p.His419Pro)
c.3698A>C (p.His1233Pro)
c.2018A>C (p.His673Pro)
Xg.108668397A>GCA413848716COL4A5c.3683A>G (p.His1228Arg)
c.3359A>G (p.His1120Arg)
c.1256A>G (p.His419Arg)
c.3698A>G (p.His1233Arg)
c.2018A>G (p.His673Arg)
Xg.108668397A>TCA413848718COL4A5c.3683A>T (p.His1228Leu)
c.3359A>T (p.His1120Leu)
c.1256A>T (p.His419Leu)
c.3698A>T (p.His1233Leu)
c.2018A>T (p.His673Leu)
Xg.108668398C>ACA413848721COL4A5c.3684C>A (p.His1228Gln)
c.3360C>A (p.His1120Gln)
c.1257C>A (p.His419Gln)
c.3699C>A (p.His1233Gln)
c.2019C>A (p.His673Gln)
Xg.108668398C=CA2450712945COL4A5c.3684C= (p.His1228=)
c.3360C= (p.His1120=)
c.1257C= (p.His419=)
c.3699C= (p.His1233=)
c.2019C= (p.His673=)
Xg.108668398C>GCA413848723COL4A5c.3684C>G (p.His1228Gln)
c.3360C>G (p.His1120Gln)
c.1257C>G (p.His419Gln)
c.3699C>G (p.His1233Gln)
c.2019C>G (p.His673Gln)
Xg.108668398C>TCA10489158COL4A5c.3684C>T (p.His1228=)
c.3360C>T (p.His1120=)
c.1257C>T (p.His419=)
c.3699C>T (p.His1233=)
c.2019C>T (p.His673=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.108668399G>ACA413848729COL4A5c.3685G>A (p.Gly1229Ser)
c.3361G>A (p.Gly1121Ser)
c.1258G>A (p.Gly420Ser)
c.3700G>A (p.Gly1234Ser)
c.2020G>A (p.Gly674Ser)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
Xg.108668399G>CCA413848731COL4A5c.3685G>C (p.Gly1229Arg)
c.3361G>C (p.Gly1121Arg)
c.1258G>C (p.Gly420Arg)
c.3700G>C (p.Gly1234Arg)
c.2020G>C (p.Gly674Arg)
Xg.108668399G=CA2450712946COL4A5c.3685G= (p.Gly1229=)
c.3361G= (p.Gly1121=)
c.1258G= (p.Gly420=)
c.3700G= (p.Gly1234=)
c.2020G= (p.Gly674=)
Xg.108668399G>TCA413848734COL4A5c.3685G>T (p.Gly1229Cys)
c.3361G>T (p.Gly1121Cys)
c.1258G>T (p.Gly420Cys)
c.3700G>T (p.Gly1234Cys)
c.2020G>T (p.Gly674Cys)
Xg.108668400G>ACA258928COL4A5c.3686G>A (p.Gly1229Asp)
c.3362G>A (p.Gly1121Asp)
c.1259G>A (p.Gly420Asp)
c.3701G>A (p.Gly1234Asp)
c.2021G>A (p.Gly674Asp)
 ClinVar dbSNP
Xg.108668400G>CCA413848739COL4A5c.3686G>C (p.Gly1229Ala)
c.3362G>C (p.Gly1121Ala)
c.1259G>C (p.Gly420Ala)
c.3701G>C (p.Gly1234Ala)
c.2021G>C (p.Gly674Ala)
 ClinVar dbSNP
Xg.108668400G=CA2450712947COL4A5c.3686G= (p.Gly1229=)
c.3362G= (p.Gly1121=)
c.1259G= (p.Gly420=)
c.3701G= (p.Gly1234=)
c.2021G= (p.Gly674=)
Xg.108668400G>TCA413848741COL4A5c.3686G>T (p.Gly1229Val)
c.3362G>T (p.Gly1121Val)
c.1259G>T (p.Gly420Val)
c.3701G>T (p.Gly1234Val)
c.2021G>T (p.Gly674Val)
 ClinVar dbSNP
Xg.108668401T>ACA517922678COL4A5c.3687T>A (p.Gly1229=)
c.3363T>A (p.Gly1121=)
c.1260T>A (p.Gly420=)
c.3702T>A (p.Gly1234=)
c.2022T>A (p.Gly674=)
Xg.108668401T>CCA517922679COL4A5c.3687T>C (p.Gly1229=)
c.3363T>C (p.Gly1121=)
c.1260T>C (p.Gly420=)
c.3702T>C (p.Gly1234=)
c.2022T>C (p.Gly674=)
Xg.108668401T>GCA517922680COL4A5c.3687T>G (p.Gly1229=)
c.3363T>G (p.Gly1121=)
c.1260T>G (p.Gly420=)
c.3702T>G (p.Gly1234=)
c.2022T>G (p.Gly674=)
Xg.108668403dupCA2573131715COL4A5c.3689dup (p.Gly1232TrpfsTer20)
c.3365dup (p.Gly1124TrpfsTer20)
c.1262dup (p.Gly423TrpfsTer20)
c.3704dup (p.Gly1237TrpfsTer20)
c.2024dup (p.Gly677TrpfsTer20)
Xg.108668402T>ACA413848751COL4A5c.3688T>A (p.Phe1230Ile)
c.3364T>A (p.Phe1122Ile)
c.1261T>A (p.Phe421Ile)
c.3703T>A (p.Phe1235Ile)
c.2023T>A (p.Phe675Ile)
Xg.108668402T>CCA413848748COL4A5c.3688T>C (p.Phe1230Leu)
c.3364T>C (p.Phe1122Leu)
c.1261T>C (p.Phe421Leu)
c.3703T>C (p.Phe1235Leu)
c.2023T>C (p.Phe675Leu)
Xg.108668402T>GCA413848745COL4A5c.3688T>G (p.Phe1230Val)
c.3364T>G (p.Phe1122Val)
c.1261T>G (p.Phe421Val)
c.3703T>G (p.Phe1235Val)
c.2023T>G (p.Phe675Val)
Xg.108668403T>ACA413848755COL4A5c.3689T>A (p.Phe1230Tyr)
c.3365T>A (p.Phe1122Tyr)
c.1262T>A (p.Phe421Tyr)
c.3704T>A (p.Phe1235Tyr)
c.2024T>A (p.Phe675Tyr)
Xg.108668403T>CCA413848758COL4A5c.3689T>C (p.Phe1230Ser)
c.3365T>C (p.Phe1122Ser)
c.1262T>C (p.Phe421Ser)
c.3704T>C (p.Phe1235Ser)
c.2024T>C (p.Phe675Ser)
Xg.108668403T>GCA413848761COL4A5c.3689T>G (p.Phe1230Cys)
c.3365T>G (p.Phe1122Cys)
c.1262T>G (p.Phe421Cys)
c.3704T>G (p.Phe1235Cys)
c.2024T>G (p.Phe675Cys)
Xg.108668403_108668404delinsTCCA2450712948COL4A5c.3689_3690delinsTC (p.Phe1230=)
c.3365_3366delinsTC (p.Phe1122=)
c.1262_1263delinsTC (p.Phe421=)
c.3704_3705delinsTC (p.Phe1235=)
c.2024_2025delinsTC (p.Phe675=)
Xg.108668404C>ACA413848764COL4A5c.3690C>A (p.Phe1230Leu)
c.3366C>A (p.Phe1122Leu)
c.1263C>A (p.Phe421Leu)
c.3705C>A (p.Phe1235Leu)
c.2025C>A (p.Phe675Leu)
Xg.108668404C>GCA413848766COL4A5c.3690C>G (p.Phe1230Leu)
c.3366C>G (p.Phe1122Leu)
c.1263C>G (p.Phe421Leu)
c.3705C>G (p.Phe1235Leu)
c.2025C>G (p.Phe675Leu)
Xg.108668404C>TCA517922681COL4A5c.3690C>T (p.Phe1230=)
c.3366C>T (p.Phe1122=)
c.1263C>T (p.Phe421=)
c.3705C>T (p.Phe1235=)
c.2025C>T (p.Phe675=)
 COSMIC COSMIC
Xg.108668406dupCA258931COL4A5c.3692dup (p.Gly1232TrpfsTer20)
c.3368dup (p.Gly1124TrpfsTer20)
c.1265dup (p.Gly423TrpfsTer20)
c.3707dup (p.Gly1237TrpfsTer20)
c.2027dup (p.Gly677TrpfsTer20)
 dbSNP
Xg.108668406delCA258930COL4A5c.3692del (p.Pro1231LeufsTer?)
c.3368del (p.Pro1123LeufsTer?)
c.1265del (p.Pro422LeufsTer?)
c.3707del (p.Pro1236LeufsTer?)
c.2027del (p.Pro676LeufsTer?)
 dbSNP
Xg.108668405C>ACA413848772COL4A5c.3691C>A (p.Pro1231Thr)
c.3367C>A (p.Pro1123Thr)
c.1264C>A (p.Pro422Thr)
c.3706C>A (p.Pro1236Thr)
c.2026C>A (p.Pro676Thr)
Xg.108668405C=CA2450712949COL4A5c.3691C= (p.Pro1231=)
c.3367C= (p.Pro1123=)
c.1264C= (p.Pro422=)
c.3706C= (p.Pro1236=)
c.2026C= (p.Pro676=)
Xg.108668405C>GCA413848774COL4A5c.3691C>G (p.Pro1231Ala)
c.3367C>G (p.Pro1123Ala)
c.1264C>G (p.Pro422Ala)
c.3706C>G (p.Pro1236Ala)
c.2026C>G (p.Pro676Ala)
Xg.108668405C>TCA413848777COL4A5c.3691C>T (p.Pro1231Ser)
c.3367C>T (p.Pro1123Ser)
c.1264C>T (p.Pro422Ser)
c.3706C>T (p.Pro1236Ser)
c.2026C>T (p.Pro676Ser)
 dbSNP COSMIC COSMIC
Xg.108668406C>ACA413848780COL4A5c.3692C>A (p.Pro1231His)
c.3368C>A (p.Pro1123His)
c.1265C>A (p.Pro422His)
c.3707C>A (p.Pro1236His)
c.2027C>A (p.Pro676His)
 dbSNP gnomAD v4
Xg.108668406C=CA2450712950COL4A5c.3692C= (p.Pro1231=)
c.3368C= (p.Pro1123=)
c.1265C= (p.Pro422=)
c.3707C= (p.Pro1236=)
c.2027C= (p.Pro676=)
Xg.108668406C>GCA334046811COL4A5c.3692C>G (p.Pro1231Arg)
c.3368C>G (p.Pro1123Arg)
c.1265C>G (p.Pro422Arg)
c.3707C>G (p.Pro1236Arg)
c.2027C>G (p.Pro676Arg)
 dbSNP gnomAD v4
Xg.108668406C>TCA413848783COL4A5c.3692C>T (p.Pro1231Leu)
c.3368C>T (p.Pro1123Leu)
c.1265C>T (p.Pro422Leu)
c.3707C>T (p.Pro1236Leu)
c.2027C>T (p.Pro676Leu)
Xg.108668407T>ACA517922682COL4A5c.3693T>A (p.Pro1231=)
c.3369T>A (p.Pro1123=)
c.1266T>A (p.Pro422=)
c.3708T>A (p.Pro1236=)
c.2028T>A (p.Pro676=)
Xg.108668407T>CCA517922683COL4A5c.3693T>C (p.Pro1231=)
c.3369T>C (p.Pro1123=)
c.1266T>C (p.Pro422=)
c.3708T>C (p.Pro1236=)
c.2028T>C (p.Pro676=)
Xg.108668407T>GCA517922684COL4A5c.3693T>G (p.Pro1231=)
c.3369T>G (p.Pro1123=)
c.1266T>G (p.Pro422=)
c.3708T>G (p.Pro1236=)
c.2028T>G (p.Pro676=)
Xg.108668407_108668408delinsTGCA2450712951COL4A5c.3693_3694delinsTG (p.Pro1231=)
c.3369_3370delinsTG (p.Pro1123=)
c.1266_1267delinsTG (p.Pro422=)
c.3708_3709delinsTG (p.Pro1236=)
c.2028_2029delinsTG (p.Pro676=)
Xg.108668408G>ACA258932COL4A5c.3694G>A (p.Gly1232Ser)
c.3370G>A (p.Gly1124Ser)
c.1267G>A (p.Gly423Ser)
c.3709G>A (p.Gly1237Ser)
c.2029G>A (p.Gly677Ser)
 dbSNP
Xg.108668408G>CCA413848789COL4A5c.3694G>C (p.Gly1232Arg)
c.3370G>C (p.Gly1124Arg)
c.1267G>C (p.Gly423Arg)
c.3709G>C (p.Gly1237Arg)
c.2029G>C (p.Gly677Arg)
Xg.108668408G=CA2450712952COL4A5c.3694G= (p.Gly1232=)
c.3370G= (p.Gly1124=)
c.1267G= (p.Gly423=)
c.3709G= (p.Gly1237=)
c.2029G= (p.Gly677=)
Xg.108668408G>TCA413848786COL4A5c.3694G>T (p.Gly1232Cys)
c.3370G>T (p.Gly1124Cys)
c.1267G>T (p.Gly423Cys)
c.3709G>T (p.Gly1237Cys)
c.2029G>T (p.Gly677Cys)
Xg.108668409delCA658659032COL4A5c.3695del (p.Gly1232ValfsTer?)
c.3371del (p.Gly1124ValfsTer?)
c.1268del (p.Gly423ValfsTer?)
c.3710del (p.Gly1237ValfsTer?)
c.2030del (p.Gly677ValfsTer?)
 ClinVar dbSNP
Xg.108668409G>ACA413848793COL4A5c.3695G>A (p.Gly1232Asp)
c.3371G>A (p.Gly1124Asp)
c.1268G>A (p.Gly423Asp)
c.3710G>A (p.Gly1237Asp)
c.2030G>A (p.Gly677Asp)
 ClinVar
Xg.108668409G>CCA413848797COL4A5c.3695G>C (p.Gly1232Ala)
c.3371G>C (p.Gly1124Ala)
c.1268G>C (p.Gly423Ala)
c.3710G>C (p.Gly1237Ala)
c.2030G>C (p.Gly677Ala)
Xg.108668409G>TCA413848795COL4A5c.3695G>T (p.Gly1232Val)
c.3371G>T (p.Gly1124Val)
c.1268G>T (p.Gly423Val)
c.3710G>T (p.Gly1237Val)
c.2030G>T (p.Gly677Val)
Xg.108668410T>ACA517922687COL4A5c.3696T>A (p.Gly1232=)
c.3372T>A (p.Gly1124=)
c.1269T>A (p.Gly423=)
c.3711T>A (p.Gly1237=)
c.2031T>A (p.Gly677=)
Xg.108668410T>CCA517922686COL4A5c.3696T>C (p.Gly1232=)
c.3372T>C (p.Gly1124=)
c.1269T>C (p.Gly423=)
c.3711T>C (p.Gly1237=)
c.2031T>C (p.Gly677=)
 ClinVar
Xg.108668410T>GCA517922685COL4A5c.3696T>G (p.Gly1232=)
c.3372T>G (p.Gly1124=)
c.1269T>G (p.Gly423=)
c.3711T>G (p.Gly1237=)
c.2031T>G (p.Gly677=)
Xg.108668411G>ACA413848799COL4A5c.3697G>A (p.Val1233Met)
c.3373G>A (p.Val1125Met)
c.1270G>A (p.Val424Met)
c.3712G>A (p.Val1238Met)
c.2032G>A (p.Val678Met)
 dbSNP
Xg.108668411G>CCA413848802COL4A5c.3697G>C (p.Val1233Leu)
c.3373G>C (p.Val1125Leu)
c.1270G>C (p.Val424Leu)
c.3712G>C (p.Val1238Leu)
c.2032G>C (p.Val678Leu)
Xg.108668411G=CA2450712953COL4A5c.3697G= (p.Val1233=)
c.3373G= (p.Val1125=)
c.1270G= (p.Val424=)
c.3712G= (p.Val1238=)
c.2032G= (p.Val678=)
Xg.108668411G>TCA413848803COL4A5c.3697G>T (p.Val1233Leu)
c.3373G>T (p.Val1125Leu)
c.1270G>T (p.Val424Leu)
c.3712G>T (p.Val1238Leu)
c.2032G>T (p.Val678Leu)
Xg.108668412T>ACA413848806COL4A5c.3698T>A (p.Val1233Glu)
c.3374T>A (p.Val1125Glu)
c.1271T>A (p.Val424Glu)
c.3713T>A (p.Val1238Glu)
c.2033T>A (p.Val678Glu)
Xg.108668412T>CCA413848807COL4A5c.3698T>C (p.Val1233Ala)
c.3374T>C (p.Val1125Ala)
c.1271T>C (p.Val424Ala)
c.3713T>C (p.Val1238Ala)
c.2033T>C (p.Val678Ala)
Xg.108668412T>GCA413848808COL4A5c.3698T>G (p.Val1233Gly)
c.3374T>G (p.Val1125Gly)
c.1271T>G (p.Val424Gly)
c.3713T>G (p.Val1238Gly)
c.2033T>G (p.Val678Gly)
Xg.108668413G>ACA517922688COL4A5c.3699G>A (p.Val1233=)
c.3375G>A (p.Val1125=)
c.1272G>A (p.Val424=)
c.3714G>A (p.Val1238=)
c.2034G>A (p.Val678=)
 ClinVar
Xg.108668413G>CCA517922689COL4A5c.3699G>C (p.Val1233=)
c.3375G>C (p.Val1125=)
c.1272G>C (p.Val424=)
c.3714G>C (p.Val1238=)
c.2034G>C (p.Val678=)
Xg.108668413G>TCA517922690COL4A5c.3699G>T (p.Val1233=)
c.3375G>T (p.Val1125=)
c.1272G>T (p.Val424=)
c.3714G>T (p.Val1238=)
c.2034G>T (p.Val678=)
Xg.108668414C>ACA413848809COL4A5c.3700C>A (p.Gln1234Lys)
c.3376C>A (p.Gln1126Lys)
c.1273C>A (p.Gln425Lys)
c.3715C>A (p.Gln1239Lys)
c.2035C>A (p.Gln679Lys)
 COSMIC COSMIC
Xg.108668414C=CA2450712954COL4A5c.3700C= (p.Gln1234=)
c.3376C= (p.Gln1126=)
c.1273C= (p.Gln425=)
c.3715C= (p.Gln1239=)
c.2035C= (p.Gln679=)
Xg.108668414C>GCA413848811COL4A5c.3700C>G (p.Gln1234Glu)
c.3376C>G (p.Gln1126Glu)
c.1273C>G (p.Gln425Glu)
c.3715C>G (p.Gln1239Glu)
c.2035C>G (p.Gln679Glu)
Xg.108668414C>TCA258935COL4A5c.3700C>T (p.Gln1234Ter)
c.3376C>T (p.Gln1126Ter)
c.1273C>T (p.Gln425Ter)
c.3715C>T (p.Gln1239Ter)
c.2035C>T (p.Gln679Ter)
 dbSNP
Xg.108668415A>CCA413848816COL4A5c.3701A>C (p.Gln1234Pro)
c.3377A>C (p.Gln1126Pro)
c.1274A>C (p.Gln425Pro)
c.3716A>C (p.Gln1239Pro)
c.2036A>C (p.Gln679Pro)
Xg.108668415A>GCA413848818COL4A5c.3701A>G (p.Gln1234Arg)
c.3377A>G (p.Gln1126Arg)
c.1274A>G (p.Gln425Arg)
c.3716A>G (p.Gln1239Arg)
c.2036A>G (p.Gln679Arg)
Xg.108668415A>TCA413848820COL4A5c.3701A>T (p.Gln1234Leu)
c.3377A>T (p.Gln1126Leu)
c.1274A>T (p.Gln425Leu)
c.3716A>T (p.Gln1239Leu)
c.2036A>T (p.Gln679Leu)
Xg.108668416G>ACA517922691COL4A5c.3702G>A (p.Gln1234=)
c.3378G>A (p.Gln1126=)
c.1275G>A (p.Gln425=)
c.3717G>A (p.Gln1239=)
c.2037G>A (p.Gln679=)
Xg.108668416G>CCA413848826COL4A5c.3702G>C (p.Gln1234His)
c.3378G>C (p.Gln1126His)
c.1275G>C (p.Gln425His)
c.3717G>C (p.Gln1239His)
c.2037G>C (p.Gln679His)
Xg.108668416G>TCA413848824COL4A5c.3702G>T (p.Gln1234His)
c.3378G>T (p.Gln1126His)
c.1275G>T (p.Gln425His)
c.3717G>T (p.Gln1239His)
c.2037G>T (p.Gln679His)
Xg.108668422_108668448delCA2695235655COL4A5c.3708_3734del (p.Pro1237_Pro1245del)
c.3384_3410del (p.Pro1129_Pro1137del)
c.1281_1307del (p.Pro428_Pro436del)
c.3723_3749del (p.Pro1242_Pro1250del)
c.2043_2069del (p.Pro682_Pro690del)
Xg.108668417G>ACA413848829COL4A5c.3703G>A (p.Gly1235Ser)
c.3379G>A (p.Gly1127Ser)
c.1276G>A (p.Gly426Ser)
c.3718G>A (p.Gly1240Ser)
c.2038G>A (p.Gly680Ser)
Xg.108668417G>CCA413848832COL4A5c.3703G>C (p.Gly1235Arg)
c.3379G>C (p.Gly1127Arg)
c.1276G>C (p.Gly426Arg)
c.3718G>C (p.Gly1240Arg)
c.2038G>C (p.Gly680Arg)
Xg.108668417G>TCA413848834COL4A5c.3703G>T (p.Gly1235Cys)
c.3379G>T (p.Gly1127Cys)
c.1276G>T (p.Gly426Cys)
c.3718G>T (p.Gly1240Cys)
c.2038G>T (p.Gly680Cys)
 ClinVar dbSNP
Xg.108668418G>ACA413848838COL4A5c.3704G>A (p.Gly1235Asp)
c.3380G>A (p.Gly1127Asp)
c.1277G>A (p.Gly426Asp)
c.3719G>A (p.Gly1240Asp)
c.2039G>A (p.Gly680Asp)
Xg.108668418G>CCA413848840COL4A5c.3704G>C (p.Gly1235Ala)
c.3380G>C (p.Gly1127Ala)
c.1277G>C (p.Gly426Ala)
c.3719G>C (p.Gly1240Ala)
c.2039G>C (p.Gly680Ala)
 ClinVar
Xg.108668418G=CA2450712955COL4A5c.3704G= (p.Gly1235=)
c.3380G= (p.Gly1127=)
c.1277G= (p.Gly426=)
c.3719G= (p.Gly1240=)
c.2039G= (p.Gly680=)
Xg.108668418G>TCA413848843COL4A5c.3704G>T (p.Gly1235Val)
c.3380G>T (p.Gly1127Val)
c.1277G>T (p.Gly426Val)
c.3719G>T (p.Gly1240Val)
c.2039G>T (p.Gly680Val)
 ClinVar dbSNP
Xg.108668419T>ACA517922692COL4A5c.3705T>A (p.Gly1235=)
c.3381T>A (p.Gly1127=)
c.1278T>A (p.Gly426=)
c.3720T>A (p.Gly1240=)
c.2040T>A (p.Gly680=)
Xg.108668419T>CCA517922693COL4A5c.3705T>C (p.Gly1235=)
c.3381T>C (p.Gly1127=)
c.1278T>C (p.Gly426=)
c.3720T>C (p.Gly1240=)
c.2040T>C (p.Gly680=)
Xg.108668419T>GCA517922694COL4A5c.3705T>G (p.Gly1235=)
c.3381T>G (p.Gly1127=)
c.1278T>G (p.Gly426=)
c.3720T>G (p.Gly1240=)
c.2040T>G (p.Gly680=)
Xg.108668419T=CA2450712956COL4A5c.3705T= (p.Gly1235=)
c.3381T= (p.Gly1127=)
c.1278T= (p.Gly426=)
c.3720T= (p.Gly1240=)
c.2040T= (p.Gly680=)
Xg.108668419_108668436delinsTCCCCCAGGCCCTCCTGGCA2450712957COL4A5c.3705_3722delinsTCCCCCAGGCCCTCCTGG (p.Gly1235=)
c.3381_3398delinsTCCCCCAGGCCCTCCTGG (p.Gly1127=)
c.1278_1295delinsTCCCCCAGGCCCTCCTGG (p.Gly426=)
c.3720_3737delinsTCCCCCAGGCCCTCCTGG (p.Gly1240=)
c.2040_2057delinsTCCCCCAGGCCCTCCTGG (p.Gly680=)
Xg.108668420C>ACA413848856COL4A5c.3706C>A (p.Pro1236Thr)
c.3382C>A (p.Pro1128Thr)
c.1279C>A (p.Pro427Thr)
c.3721C>A (p.Pro1241Thr)
c.2041C>A (p.Pro681Thr)
 COSMIC COSMIC
Xg.108668420C=CA2450712959COL4A5c.3706C= (p.Pro1236=)
c.3382C= (p.Pro1128=)
c.1279C= (p.Pro427=)
c.3721C= (p.Pro1241=)
c.2041C= (p.Pro681=)
Xg.108668420C>GCA413848855COL4A5c.3706C>G (p.Pro1236Ala)
c.3382C>G (p.Pro1128Ala)
c.1279C>G (p.Pro427Ala)
c.3721C>G (p.Pro1241Ala)
c.2041C>G (p.Pro681Ala)
 ClinVar dbSNP gnomAD v4
Xg.108668420C>TCA413848852COL4A5c.3706C>T (p.Pro1236Ser)
c.3382C>T (p.Pro1128Ser)
c.1279C>T (p.Pro427Ser)
c.3721C>T (p.Pro1241Ser)
c.2041C>T (p.Pro681Ser)
 dbSNP gnomAD v4
Xg.108668423_108668424dupCA258941COL4A5c.3709_3710dup (p.Gly1238GlnfsTer?)
c.3385_3386dup (p.Gly1130GlnfsTer?)
c.1282_1283dup (p.Gly429GlnfsTer?)
c.3724_3725dup (p.Gly1243GlnfsTer?)
c.2044_2045dup (p.Gly683GlnfsTer?)
 dbSNP
Xg.108668424delCA2695235656COL4A5c.3710del (p.Pro1237GlnfsTer?)
c.3386del (p.Pro1129GlnfsTer?)
c.1283del (p.Pro428GlnfsTer?)
c.3725del (p.Pro1242GlnfsTer?)
c.2045del (p.Pro682GlnfsTer?)
Xg.108668420_108668433delCA2573159109COL4A5c.3706_3719del (p.Pro1236TrpfsTer11)
c.3382_3395del (p.Pro1128TrpfsTer11)
c.1279_1292del (p.Pro427TrpfsTer11)
c.3721_3734del (p.Pro1241TrpfsTer11)
c.2041_2054del (p.Pro681TrpfsTer11)
 dbSNP
Xg.108668420_108668436delinsTCA258939COL4A5c.3706_3722delinsT (p.Pro1236PhefsTer?)
c.3382_3398delinsT (p.Pro1128PhefsTer?)
c.1279_1295delinsT (p.Pro427PhefsTer?)
c.3721_3737delinsT (p.Pro1241PhefsTer?)
c.2041_2057delinsT (p.Pro681PhefsTer?)
 dbSNP
Xg.108668420_108668436delinsTTCA2695235657COL4A5c.3706_3722delinsTT (p.Pro1236_Gly1241delinsPhe)
c.3382_3398delinsTT (p.Pro1128_Gly1133delinsPhe)
c.1279_1295delinsTT (p.Pro427_Gly432delinsPhe)
c.3721_3737delinsTT (p.Pro1241_Gly1246delinsPhe)
c.2041_2057delinsTT (p.Pro681_Gly686delinsPhe)
Xg.108668420_108668472delinsCCCCCAGGCCCTCCTGGTTCTCCGGGTCCAGCTCTGGAAGGACCTAAAGGCAACA2450712958COL4A5c.3706_3758delinsCCCCCAGGCCCTCCTGGTTCTCCGGGTCCAGCTCTGGAAGGACCTAAAGGCAA (p.Pro1236=)
c.3382_3434delinsCCCCCAGGCCCTCCTGGTTCTCCGGGTCCAGCTCTGGAAGGACCTAAAGGCAA (p.Pro1128=)
c.1279_1331delinsCCCCCAGGCCCTCCTGGTTCTCCGGGTCCAGCTCTGGAAGGACCTAAAGGCAA (p.Pro427=)
c.3721_3773delinsCCCCCAGGCCCTCCTGGTTCTCCGGGTCCAGCTCTGGAAGGACCTAAAGGCAA (p.Pro1241=)
c.2041_2093delinsCCCCCAGGCCCTCCTGGTTCTCCGGGTCCAGCTCTGGAAGGACCTAAAGGCAA (p.Pro681=)
Xg.108668421C>ACA413848859COL4A5c.3707C>A (p.Pro1236His)
c.3383C>A (p.Pro1128His)
c.1280C>A (p.Pro427His)
c.3722C>A (p.Pro1241His)
c.2042C>A (p.Pro681His)
Xg.108668421C>GCA413848862COL4A5c.3707C>G (p.Pro1236Arg)
c.3383C>G (p.Pro1128Arg)
c.1280C>G (p.Pro427Arg)
c.3722C>G (p.Pro1241Arg)
c.2042C>G (p.Pro681Arg)
Xg.108668421C>TCA413848865COL4A5c.3707C>T (p.Pro1236Leu)
c.3383C>T (p.Pro1128Leu)
c.1280C>T (p.Pro427Leu)
c.3722C>T (p.Pro1241Leu)
c.2042C>T (p.Pro681Leu)
Xg.108668424_108668475delCA258940COL4A5c.3710_3761del (p.Pro1237LeufsTer?)
c.3386_3437del (p.Pro1129LeufsTer?)
c.1283_1334del (p.Pro428LeufsTer?)
c.3725_3776del (p.Pro1242LeufsTer?)
c.2045_2096del (p.Pro682LeufsTer?)
 dbSNP
Xg.108668422C>ACA517922695COL4A5c.3708C>A (p.Pro1236=)
c.3384C>A (p.Pro1128=)
c.1281C>A (p.Pro427=)
c.3723C>A (p.Pro1241=)
c.2043C>A (p.Pro681=)
Xg.108668422C>GCA517922696COL4A5c.3708C>G (p.Pro1236=)
c.3384C>G (p.Pro1128=)
c.1281C>G (p.Pro427=)
c.3723C>G (p.Pro1241=)
c.2043C>G (p.Pro681=)
Xg.108668422C>TCA517922697COL4A5c.3708C>T (p.Pro1236=)
c.3384C>T (p.Pro1128=)
c.1281C>T (p.Pro427=)
c.3723C>T (p.Pro1241=)
c.2043C>T (p.Pro681=)
Xg.108668423C>ACA413848870COL4A5c.3709C>A (p.Pro1237Thr)
c.3385C>A (p.Pro1129Thr)
c.1282C>A (p.Pro428Thr)
c.3724C>A (p.Pro1242Thr)
c.2044C>A (p.Pro682Thr)
Xg.108668423C>GCA413848869COL4A5c.3709C>G (p.Pro1237Ala)
c.3385C>G (p.Pro1129Ala)
c.1282C>G (p.Pro428Ala)
c.3724C>G (p.Pro1242Ala)
c.2044C>G (p.Pro682Ala)
Xg.108668423C>TCA413848872COL4A5c.3709C>T (p.Pro1237Ser)
c.3385C>T (p.Pro1129Ser)
c.1282C>T (p.Pro428Ser)
c.3724C>T (p.Pro1242Ser)
c.2044C>T (p.Pro682Ser)
 COSMIC COSMIC
Xg.108668424C>ACA413848875COL4A5c.3710C>A (p.Pro1237Gln)
c.3386C>A (p.Pro1129Gln)
c.1283C>A (p.Pro428Gln)
c.3725C>A (p.Pro1242Gln)
c.2045C>A (p.Pro682Gln)
Xg.108668424C>GCA413848878COL4A5c.3710C>G (p.Pro1237Arg)
c.3386C>G (p.Pro1129Arg)
c.1283C>G (p.Pro428Arg)
c.3725C>G (p.Pro1242Arg)
c.2045C>G (p.Pro682Arg)
Xg.108668424C>TCA413848879COL4A5c.3710C>T (p.Pro1237Leu)
c.3386C>T (p.Pro1129Leu)
c.1283C>T (p.Pro428Leu)
c.3725C>T (p.Pro1242Leu)
c.2045C>T (p.Pro682Leu)
Xg.108668425A>CCA517922698COL4A5c.3711A>C (p.Pro1237=)
c.3387A>C (p.Pro1129=)
c.1284A>C (p.Pro428=)
c.3726A>C (p.Pro1242=)
c.2046A>C (p.Pro682=)
Xg.108668425A>GCA517922700COL4A5c.3711A>G (p.Pro1237=)
c.3387A>G (p.Pro1129=)
c.1284A>G (p.Pro428=)
c.3726A>G (p.Pro1242=)
c.2046A>G (p.Pro682=)
 gnomAD v4
Xg.108668425A>TCA517922699COL4A5c.3711A>T (p.Pro1237=)
c.3387A>T (p.Pro1129=)
c.1284A>T (p.Pro428=)
c.3726A>T (p.Pro1242=)
c.2046A>T (p.Pro682=)
Xg.108668426G>ACA413848883COL4A5c.3712G>A (p.Gly1238Ser)
c.3388G>A (p.Gly1130Ser)
c.1285G>A (p.Gly429Ser)
c.3727G>A (p.Gly1243Ser)
c.2047G>A (p.Gly683Ser)
 ClinVar dbSNP
Xg.108668426G>CCA413848886COL4A5c.3712G>C (p.Gly1238Arg)
c.3388G>C (p.Gly1130Arg)
c.1285G>C (p.Gly429Arg)
c.3727G>C (p.Gly1243Arg)
c.2047G>C (p.Gly683Arg)
Xg.108668426G>TCA413848888COL4A5c.3712G>T (p.Gly1238Cys)
c.3388G>T (p.Gly1130Cys)
c.1285G>T (p.Gly429Cys)
c.3727G>T (p.Gly1243Cys)
c.2047G>T (p.Gly683Cys)
Xg.108668427G>ACA413848893COL4A5c.3713G>A (p.Gly1238Asp)
c.3389G>A (p.Gly1130Asp)
c.1286G>A (p.Gly429Asp)
c.3728G>A (p.Gly1243Asp)
c.2048G>A (p.Gly683Asp)
 ClinVar
Xg.108668427G>CCA413848895COL4A5c.3713G>C (p.Gly1238Ala)
c.3389G>C (p.Gly1130Ala)
c.1286G>C (p.Gly429Ala)
c.3728G>C (p.Gly1243Ala)
c.2048G>C (p.Gly683Ala)
Xg.108668427G>TCA413848897COL4A5c.3713G>T (p.Gly1238Val)
c.3389G>T (p.Gly1130Val)
c.1286G>T (p.Gly429Val)
c.3728G>T (p.Gly1243Val)
c.2048G>T (p.Gly683Val)
Xg.108668428C>ACA517922701COL4A5c.3714C>A (p.Gly1238=)
c.3390C>A (p.Gly1130=)
c.1287C>A (p.Gly429=)
c.3729C>A (p.Gly1243=)
c.2049C>A (p.Gly683=)
Xg.108668428C>GCA517922702COL4A5c.3714C>G (p.Gly1238=)
c.3390C>G (p.Gly1130=)
c.1287C>G (p.Gly429=)
c.3729C>G (p.Gly1243=)
c.2049C>G (p.Gly683=)
Xg.108668428C>TCA517922703COL4A5c.3714C>T (p.Gly1238=)
c.3390C>T (p.Gly1130=)
c.1287C>T (p.Gly429=)
c.3729C>T (p.Gly1243=)
c.2049C>T (p.Gly683=)
Xg.108668429C>ACA413848901COL4A5c.3715C>A (p.Pro1239Thr)
c.3391C>A (p.Pro1131Thr)
c.1288C>A (p.Pro430Thr)
c.3730C>A (p.Pro1244Thr)
c.2050C>A (p.Pro684Thr)
Xg.108668429C>GCA413848903COL4A5c.3715C>G (p.Pro1239Ala)
c.3391C>G (p.Pro1131Ala)
c.1288C>G (p.Pro430Ala)
c.3730C>G (p.Pro1244Ala)
c.2050C>G (p.Pro684Ala)
Xg.108668429C>TCA413848906COL4A5c.3715C>T (p.Pro1239Ser)
c.3391C>T (p.Pro1131Ser)
c.1288C>T (p.Pro430Ser)
c.3730C>T (p.Pro1244Ser)
c.2050C>T (p.Pro684Ser)
Xg.108668430C>ACA413848913COL4A5c.3716C>A (p.Pro1239His)
c.3392C>A (p.Pro1131His)
c.1289C>A (p.Pro430His)
c.3731C>A (p.Pro1244His)
c.2051C>A (p.Pro684His)
Xg.108668430C=CA2450712960COL4A5c.3716C= (p.Pro1239=)
c.3392C= (p.Pro1131=)
c.1289C= (p.Pro430=)
c.3731C= (p.Pro1244=)
c.2051C= (p.Pro684=)
Xg.108668430C>GCA413848909COL4A5c.3716C>G (p.Pro1239Arg)
c.3392C>G (p.Pro1131Arg)
c.1289C>G (p.Pro430Arg)
c.3731C>G (p.Pro1244Arg)
c.2051C>G (p.Pro684Arg)
Xg.108668430C>TCA10489159COL4A5c.3716C>T (p.Pro1239Leu)
c.3392C>T (p.Pro1131Leu)
c.1289C>T (p.Pro430Leu)
c.3731C>T (p.Pro1244Leu)
c.2051C>T (p.Pro684Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.108668431T>ACA517922704COL4A5c.3717T>A (p.Pro1239=)
c.3393T>A (p.Pro1131=)
c.1290T>A (p.Pro430=)
c.3732T>A (p.Pro1244=)
c.2052T>A (p.Pro684=)
Xg.108668431T>CCA517922706COL4A5c.3717T>C (p.Pro1239=)
c.3393T>C (p.Pro1131=)
c.1290T>C (p.Pro430=)
c.3732T>C (p.Pro1244=)
c.2052T>C (p.Pro684=)
Xg.108668431T>GCA517922705COL4A5c.3717T>G (p.Pro1239=)
c.3393T>G (p.Pro1131=)
c.1290T>G (p.Pro430=)
c.3732T>G (p.Pro1244=)
c.2052T>G (p.Pro684=)
Xg.108668431_108668435dupCA2695235658COL4A5c.3717_3721dup (p.Gly1241ValfsTer?)
c.3393_3397dup (p.Gly1133ValfsTer?)
c.1290_1294dup (p.Gly432ValfsTer?)
c.3732_3736dup (p.Gly1246ValfsTer?)
c.2052_2056dup (p.Gly686ValfsTer?)
Xg.108668432C>ACA413848916COL4A5c.3718C>A (p.Pro1240Thr)
c.3394C>A (p.Pro1132Thr)
c.1291C>A (p.Pro431Thr)
c.3733C>A (p.Pro1245Thr)
c.2053C>A (p.Pro685Thr)
Xg.108668432C=CA2450712961COL4A5c.3718C= (p.Pro1240=)
c.3394C= (p.Pro1132=)
c.1291C= (p.Pro431=)
c.3733C= (p.Pro1245=)
c.2053C= (p.Pro685=)
Xg.108668432C>GCA413848918COL4A5c.3718C>G (p.Pro1240Ala)
c.3394C>G (p.Pro1132Ala)
c.1291C>G (p.Pro431Ala)
c.3733C>G (p.Pro1245Ala)
c.2053C>G (p.Pro685Ala)
 dbSNP
Xg.108668432C>TCA413848919COL4A5c.3718C>T (p.Pro1240Ser)
c.3394C>T (p.Pro1132Ser)
c.1291C>T (p.Pro431Ser)
c.3733C>T (p.Pro1245Ser)
c.2053C>T (p.Pro685Ser)
Xg.108668433C>ACA413848920COL4A5c.3719C>A (p.Pro1240His)
c.3395C>A (p.Pro1132His)
c.1292C>A (p.Pro431His)
c.3734C>A (p.Pro1245His)
c.2054C>A (p.Pro685His)
Xg.108668433C>GCA413848921COL4A5c.3719C>G (p.Pro1240Arg)
c.3395C>G (p.Pro1132Arg)
c.1292C>G (p.Pro431Arg)
c.3734C>G (p.Pro1245Arg)
c.2054C>G (p.Pro685Arg)
 gnomAD v4
Xg.108668433C>TCA413848922COL4A5c.3719C>T (p.Pro1240Leu)
c.3395C>T (p.Pro1132Leu)
c.1292C>T (p.Pro431Leu)
c.3734C>T (p.Pro1245Leu)
c.2054C>T (p.Pro685Leu)
Xg.108668434T>ACA517922707COL4A5c.3720T>A (p.Pro1240=)
c.3396T>A (p.Pro1132=)
c.1293T>A (p.Pro431=)
c.3735T>A (p.Pro1245=)
c.2055T>A (p.Pro685=)
Xg.108668434T>CCA517922708COL4A5c.3720T>C (p.Pro1240=)
c.3396T>C (p.Pro1132=)
c.1293T>C (p.Pro431=)
c.3735T>C (p.Pro1245=)
c.2055T>C (p.Pro685=)
Xg.108668434T>GCA517922709COL4A5c.3720T>G (p.Pro1240=)
c.3396T>G (p.Pro1132=)
c.1293T>G (p.Pro431=)
c.3735T>G (p.Pro1245=)
c.2055T>G (p.Pro685=)
Xg.108668435G>ACA413848924COL4A5c.3721G>A (p.Gly1241Ser)
c.3397G>A (p.Gly1133Ser)
c.1294G>A (p.Gly432Ser)
c.3736G>A (p.Gly1246Ser)
c.2056G>A (p.Gly686Ser)
 ClinVar dbSNP
Xg.108668435G>CCA413848926COL4A5c.3721G>C (p.Gly1241Arg)
c.3397G>C (p.Gly1133Arg)
c.1294G>C (p.Gly432Arg)
c.3736G>C (p.Gly1246Arg)
c.2056G>C (p.Gly686Arg)
Xg.108668435G=CA2450712962COL4A5c.3721G= (p.Gly1241=)
c.3397G= (p.Gly1133=)
c.1294G= (p.Gly432=)
c.3736G= (p.Gly1246=)
c.2056G= (p.Gly686=)
Xg.108668435G>TCA258942COL4A5c.3721G>T (p.Gly1241Cys)
c.3397G>T (p.Gly1133Cys)
c.1294G>T (p.Gly432Cys)
c.3736G>T (p.Gly1246Cys)
c.2056G>T (p.Gly686Cys)
 ClinVar dbSNP
Xg.108668436delCA2695235659COL4A5c.3722del (p.Gly1241ValfsTer?)
c.3398del (p.Gly1133ValfsTer?)
c.1295del (p.Gly432ValfsTer?)
c.3737del (p.Gly1246ValfsTer?)
c.2057del (p.Gly686ValfsTer?)
Xg.108668436G>ACA413848929COL4A5c.3722G>A (p.Gly1241Asp)
c.3398G>A (p.Gly1133Asp)
c.1295G>A (p.Gly432Asp)
c.3737G>A (p.Gly1246Asp)
c.2057G>A (p.Gly686Asp)
 ClinVar dbSNP
Xg.108668436G>CCA413848931COL4A5c.3722G>C (p.Gly1241Ala)
c.3398G>C (p.Gly1133Ala)
c.1295G>C (p.Gly432Ala)
c.3737G>C (p.Gly1246Ala)
c.2057G>C (p.Gly686Ala)
Xg.108668436G=CA2450712963COL4A5c.3722G= (p.Gly1241=)
c.3398G= (p.Gly1133=)
c.1295G= (p.Gly432=)
c.3737G= (p.Gly1246=)
c.2057G= (p.Gly686=)
Xg.108668436G>TCA258944COL4A5c.3722G>T (p.Gly1241Val)
c.3398G>T (p.Gly1133Val)
c.1295G>T (p.Gly432Val)
c.3737G>T (p.Gly1246Val)
c.2057G>T (p.Gly686Val)
 dbSNP
Xg.108668437T>ACA517922710COL4A5c.3723T>A (p.Gly1241=)
c.3399T>A (p.Gly1133=)
c.1296T>A (p.Gly432=)
c.3738T>A (p.Gly1246=)
c.2058T>A (p.Gly686=)
Xg.108668437T>CCA517922711COL4A5c.3723T>C (p.Gly1241=)
c.3399T>C (p.Gly1133=)
c.1296T>C (p.Gly432=)
c.3738T>C (p.Gly1246=)
c.2058T>C (p.Gly686=)
Xg.108668437T>GCA517922712COL4A5c.3723T>G (p.Gly1241=)
c.3399T>G (p.Gly1133=)
c.1296T>G (p.Gly432=)
c.3738T>G (p.Gly1246=)
c.2058T>G (p.Gly686=)
Xg.108668438T>ACA413848935COL4A5c.3724T>A (p.Ser1242Thr)
c.3400T>A (p.Ser1134Thr)
c.1297T>A (p.Ser433Thr)
c.3739T>A (p.Ser1247Thr)
c.2059T>A (p.Ser687Thr)
Xg.108668438T>CCA413848939COL4A5c.3724T>C (p.Ser1242Pro)
c.3400T>C (p.Ser1134Pro)
c.1297T>C (p.Ser433Pro)
c.3739T>C (p.Ser1247Pro)
c.2059T>C (p.Ser687Pro)
Xg.108668438T>GCA413848936COL4A5c.3724T>G (p.Ser1242Ala)
c.3400T>G (p.Ser1134Ala)
c.1297T>G (p.Ser433Ala)
c.3739T>G (p.Ser1247Ala)
c.2059T>G (p.Ser687Ala)
Xg.108668439C>ACA413848941COL4A5c.3725C>A (p.Ser1242Tyr)
c.3401C>A (p.Ser1134Tyr)
c.1298C>A (p.Ser433Tyr)
c.3740C>A (p.Ser1247Tyr)
c.2060C>A (p.Ser687Tyr)
Xg.108668439C=CA2450712964COL4A5c.3725C= (p.Ser1242=)
c.3401C= (p.Ser1134=)
c.1298C= (p.Ser433=)
c.3740C= (p.Ser1247=)
c.2060C= (p.Ser687=)
Xg.108668439C>GCA413848943COL4A5c.3725C>G (p.Ser1242Cys)
c.3401C>G (p.Ser1134Cys)
c.1298C>G (p.Ser433Cys)
c.3740C>G (p.Ser1247Cys)
c.2060C>G (p.Ser687Cys)
Xg.108668439C>TCA10489160COL4A5c.3725C>T (p.Ser1242Phe)
c.3401C>T (p.Ser1134Phe)
c.1298C>T (p.Ser433Phe)
c.3740C>T (p.Ser1247Phe)
c.2060C>T (p.Ser687Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108668440T>ACA517922713COL4A5c.3726T>A (p.Ser1242=)
c.3402T>A (p.Ser1134=)
c.1299T>A (p.Ser433=)
c.3741T>A (p.Ser1247=)
c.2061T>A (p.Ser687=)
Xg.108668440T>CCA517922714COL4A5c.3726T>C (p.Ser1242=)
c.3402T>C (p.Ser1134=)
c.1299T>C (p.Ser433=)
c.3741T>C (p.Ser1247=)
c.2061T>C (p.Ser687=)
Xg.108668440T>GCA517922715COL4A5c.3726T>G (p.Ser1242=)
c.3402T>G (p.Ser1134=)
c.1299T>G (p.Ser433=)
c.3741T>G (p.Ser1247=)
c.2061T>G (p.Ser687=)
Xg.108668441C>ACA413848946COL4A5c.3727C>A (p.Pro1243Thr)
c.3403C>A (p.Pro1135Thr)
c.1300C>A (p.Pro434Thr)
c.3742C>A (p.Pro1248Thr)
c.2062C>A (p.Pro688Thr)
Xg.108668441C=CA2450712965COL4A5c.3727C= (p.Pro1243=)
c.3403C= (p.Pro1135=)
c.1300C= (p.Pro434=)
c.3742C= (p.Pro1248=)
c.2062C= (p.Pro688=)
Xg.108668441C>GCA413848947COL4A5c.3727C>G (p.Pro1243Ala)
c.3403C>G (p.Pro1135Ala)
c.1300C>G (p.Pro434Ala)
c.3742C>G (p.Pro1248Ala)
c.2062C>G (p.Pro688Ala)
Xg.108668441C>TCA334046887COL4A5c.3727C>T (p.Pro1243Ser)
c.3403C>T (p.Pro1135Ser)
c.1300C>T (p.Pro434Ser)
c.3742C>T (p.Pro1248Ser)
c.2062C>T (p.Pro688Ser)
 dbSNP
Xg.108668442C>ACA413848951COL4A5c.3728C>A (p.Pro1243Gln)
c.3404C>A (p.Pro1135Gln)
c.1301C>A (p.Pro434Gln)
c.3743C>A (p.Pro1248Gln)
c.2063C>A (p.Pro688Gln)
Xg.108668442C=CA2450712966COL4A5c.3728C= (p.Pro1243=)
c.3404C= (p.Pro1135=)
c.1301C= (p.Pro434=)
c.3743C= (p.Pro1248=)
c.2063C= (p.Pro688=)
Xg.108668442C>GCA413848950COL4A5c.3728C>G (p.Pro1243Arg)
c.3404C>G (p.Pro1135Arg)
c.1301C>G (p.Pro434Arg)
c.3743C>G (p.Pro1248Arg)
c.2063C>G (p.Pro688Arg)
Xg.108668442C>TCA10489161COL4A5c.3728C>T (p.Pro1243Leu)
c.3404C>T (p.Pro1135Leu)
c.1301C>T (p.Pro434Leu)
c.3743C>T (p.Pro1248Leu)
c.2063C>T (p.Pro688Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.108668443G>ACA517922716COL4A5c.3729G>A (p.Pro1243=)
c.3405G>A (p.Pro1135=)
c.1302G>A (p.Pro434=)
c.3744G>A (p.Pro1248=)
c.2064G>A (p.Pro688=)
 gnomAD v4
Xg.108668443G>CCA517922718COL4A5c.3729G>C (p.Pro1243=)
c.3405G>C (p.Pro1135=)
c.1302G>C (p.Pro434=)
c.3744G>C (p.Pro1248=)
c.2064G>C (p.Pro688=)
Xg.108668443G>TCA517922717COL4A5c.3729G>T (p.Pro1243=)
c.3405G>T (p.Pro1135=)
c.1302G>T (p.Pro434=)
c.3744G>T (p.Pro1248=)
c.2064G>T (p.Pro688=)
Xg.108668445delCA2694441655COL4A5c.3731del (p.Gly1244ValfsTer?)
c.3407del (p.Gly1136ValfsTer?)
c.1304del (p.Gly435ValfsTer?)
c.3746del (p.Gly1249ValfsTer?)
c.2066del (p.Gly689ValfsTer?)
 gnomAD v4
Xg.108668444G>ACA334046899COL4A5c.3730G>A (p.Gly1244Ser)
c.3406G>A (p.Gly1136Ser)
c.1303G>A (p.Gly435Ser)
c.3745G>A (p.Gly1249Ser)
c.2065G>A (p.Gly689Ser)
 ClinVar dbSNP gnomAD v4
Xg.108668444G>CCA413848954COL4A5c.3730G>C (p.Gly1244Arg)
c.3406G>C (p.Gly1136Arg)
c.1303G>C (p.Gly435Arg)
c.3745G>C (p.Gly1249Arg)
c.2065G>C (p.Gly689Arg)
 ClinVar dbSNP
Xg.108668444G=CA2450712967COL4A5c.3730G= (p.Gly1244=)
c.3406G= (p.Gly1136=)
c.1303G= (p.Gly435=)
c.3745G= (p.Gly1249=)
c.2065G= (p.Gly689=)
Xg.108668444G>TCA413848955COL4A5c.3730G>T (p.Gly1244Cys)
c.3406G>T (p.Gly1136Cys)
c.1303G>T (p.Gly435Cys)
c.3745G>T (p.Gly1249Cys)
c.2065G>T (p.Gly689Cys)
Xg.108668445G>ACA258947COL4A5c.3731G>A (p.Gly1244Asp)
c.3407G>A (p.Gly1136Asp)
c.1304G>A (p.Gly435Asp)
c.3746G>A (p.Gly1249Asp)
c.2066G>A (p.Gly689Asp)
 ClinVar dbSNP gnomAD v4
Xg.108668445G>CCA413848959COL4A5c.3731G>C (p.Gly1244Ala)
c.3407G>C (p.Gly1136Ala)
c.1304G>C (p.Gly435Ala)
c.3746G>C (p.Gly1249Ala)
c.2066G>C (p.Gly689Ala)
Xg.108668445G=CA2450712968COL4A5c.3731G= (p.Gly1244=)
c.3407G= (p.Gly1136=)
c.1304G= (p.Gly435=)
c.3746G= (p.Gly1249=)
c.2066G= (p.Gly689=)
Xg.108668445G>TCA413848961COL4A5c.3731G>T (p.Gly1244Val)
c.3407G>T (p.Gly1136Val)
c.1304G>T (p.Gly435Val)
c.3746G>T (p.Gly1249Val)
c.2066G>T (p.Gly689Val)
Xg.108668446T>ACA517922719COL4A5c.3732T>A (p.Gly1244=)
c.3408T>A (p.Gly1136=)
c.1305T>A (p.Gly435=)
c.3747T>A (p.Gly1249=)
c.2067T>A (p.Gly689=)
Xg.108668446T>CCA517922720COL4A5c.3732T>C (p.Gly1244=)
c.3408T>C (p.Gly1136=)
c.1305T>C (p.Gly435=)
c.3747T>C (p.Gly1249=)
c.2067T>C (p.Gly689=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.108668446T>GCA517922721COL4A5c.3732T>G (p.Gly1244=)
c.3408T>G (p.Gly1136=)
c.1305T>G (p.Gly435=)
c.3747T>G (p.Gly1249=)
c.2067T>G (p.Gly689=)
Xg.108668446T=CA2450712969COL4A5c.3732T= (p.Gly1244=)
c.3408T= (p.Gly1136=)
c.1305T= (p.Gly435=)
c.3747T= (p.Gly1249=)
c.2067T= (p.Gly689=)
Xg.108668447C>ACA413848964COL4A5c.3733C>A (p.Pro1245Thr)
c.3409C>A (p.Pro1137Thr)
c.1306C>A (p.Pro436Thr)
c.3748C>A (p.Pro1250Thr)
c.2068C>A (p.Pro690Thr)
Xg.108668447C>GCA413848966COL4A5c.3733C>G (p.Pro1245Ala)
c.3409C>G (p.Pro1137Ala)
c.1306C>G (p.Pro436Ala)
c.3748C>G (p.Pro1250Ala)
c.2068C>G (p.Pro690Ala)
Xg.108668447C>TCA413848965COL4A5c.3733C>T (p.Pro1245Ser)
c.3409C>T (p.Pro1137Ser)
c.1306C>T (p.Pro436Ser)
c.3748C>T (p.Pro1250Ser)
c.2068C>T (p.Pro690Ser)
Xg.108668448C>ACA413848968COL4A5c.3734C>A (p.Pro1245Gln)
c.3410C>A (p.Pro1137Gln)
c.1307C>A (p.Pro436Gln)
c.3749C>A (p.Pro1250Gln)
c.2069C>A (p.Pro690Gln)
Xg.108668448C=CA2450712970COL4A5c.3734C= (p.Pro1245=)
c.3410C= (p.Pro1137=)
c.1307C= (p.Pro436=)
c.3749C= (p.Pro1250=)
c.2069C= (p.Pro690=)
Xg.108668448C>GCA413848969COL4A5c.3734C>G (p.Pro1245Arg)
c.3410C>G (p.Pro1137Arg)
c.1307C>G (p.Pro436Arg)
c.3749C>G (p.Pro1250Arg)
c.2069C>G (p.Pro690Arg)
Xg.108668448C>TCA413848970COL4A5c.3734C>T (p.Pro1245Leu)
c.3410C>T (p.Pro1137Leu)
c.1307C>T (p.Pro436Leu)
c.3749C>T (p.Pro1250Leu)
c.2069C>T (p.Pro690Leu)
 dbSNP gnomAD v2
Xg.108668449A>CCA517922722COL4A5c.3735A>C (p.Pro1245=)
c.3411A>C (p.Pro1137=)
c.1308A>C (p.Pro436=)
c.3750A>C (p.Pro1250=)
c.2070A>C (p.Pro690=)
Xg.108668449A>GCA517922723COL4A5c.3735A>G (p.Pro1245=)
c.3411A>G (p.Pro1137=)
c.1308A>G (p.Pro436=)
c.3750A>G (p.Pro1250=)
c.2070A>G (p.Pro690=)
Xg.108668449A>TCA517922724COL4A5c.3735A>T (p.Pro1245=)
c.3411A>T (p.Pro1137=)
c.1308A>T (p.Pro436=)
c.3750A>T (p.Pro1250=)
c.2070A>T (p.Pro690=)
Xg.108668450G>ACA413848972COL4A5c.3736G>A (p.Ala1246Thr)
c.3412G>A (p.Ala1138Thr)
c.1309G>A (p.Ala437Thr)
c.3751G>A (p.Ala1251Thr)
c.2071G>A (p.Ala691Thr)
Xg.108668450G>CCA413848974COL4A5c.3736G>C (p.Ala1246Pro)
c.3412G>C (p.Ala1138Pro)
c.1309G>C (p.Ala437Pro)
c.3751G>C (p.Ala1251Pro)
c.2071G>C (p.Ala691Pro)
Xg.108668450G=CA2450712971COL4A5c.3736G= (p.Ala1246=)
c.3412G= (p.Ala1138=)
c.1309G= (p.Ala437=)
c.3751G= (p.Ala1251=)
c.2071G= (p.Ala691=)
Xg.108668450G>TCA10489162COL4A5c.3736G>T (p.Ala1246Ser)
c.3412G>T (p.Ala1138Ser)
c.1309G>T (p.Ala437Ser)
c.3751G>T (p.Ala1251Ser)
c.2071G>T (p.Ala691Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108668451C>ACA413848977COL4A5c.3737C>A (p.Ala1246Asp)
c.3413C>A (p.Ala1138Asp)
c.1310C>A (p.Ala437Asp)
c.3752C>A (p.Ala1251Asp)
c.2072C>A (p.Ala691Asp)
Xg.108668451C>GCA413848979COL4A5c.3737C>G (p.Ala1246Gly)
c.3413C>G (p.Ala1138Gly)
c.1310C>G (p.Ala437Gly)
c.3752C>G (p.Ala1251Gly)
c.2072C>G (p.Ala691Gly)
Xg.108668451C>TCA413848980COL4A5c.3737C>T (p.Ala1246Val)
c.3413C>T (p.Ala1138Val)
c.1310C>T (p.Ala437Val)
c.3752C>T (p.Ala1251Val)
c.2072C>T (p.Ala691Val)
Xg.108668452T>ACA517922725COL4A5c.3738T>A (p.Ala1246=)
c.3414T>A (p.Ala1138=)
c.1311T>A (p.Ala437=)
c.3753T>A (p.Ala1251=)
c.2073T>A (p.Ala691=)
Xg.108668452T>CCA517922726COL4A5c.3738T>C (p.Ala1246=)
c.3414T>C (p.Ala1138=)
c.1311T>C (p.Ala437=)
c.3753T>C (p.Ala1251=)
c.2073T>C (p.Ala691=)
Xg.108668452T>GCA517922727COL4A5c.3738T>G (p.Ala1246=)
c.3414T>G (p.Ala1138=)
c.1311T>G (p.Ala437=)
c.3753T>G (p.Ala1251=)
c.2073T>G (p.Ala691=)
Xg.108668453C>ACA413848983COL4A5c.3739C>A (p.Leu1247Met)
c.3415C>A (p.Leu1139Met)
c.1312C>A (p.Leu438Met)
c.3754C>A (p.Leu1252Met)
c.2074C>A (p.Leu692Met)
Xg.108668453C=CA2450712972COL4A5c.3739C= (p.Leu1247=)
c.3415C= (p.Leu1139=)
c.1312C= (p.Leu438=)
c.3754C= (p.Leu1252=)
c.2074C= (p.Leu692=)
Xg.108668453C>GCA10489163COL4A5c.3739C>G (p.Leu1247Val)
c.3415C>G (p.Leu1139Val)
c.1312C>G (p.Leu438Val)
c.3754C>G (p.Leu1252Val)
c.2074C>G (p.Leu692Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108668453C>TCA517922728COL4A5c.3739C>T (p.Leu1247=)
c.3415C>T (p.Leu1139=)
c.1312C>T (p.Leu438=)
c.3754C>T (p.Leu1252=)
c.2074C>T (p.Leu692=)
 gnomAD v4
Xg.108668454T>ACA413848985COL4A5c.3740T>A (p.Leu1247Gln)
c.3416T>A (p.Leu1139Gln)
c.1313T>A (p.Leu438Gln)
c.3755T>A (p.Leu1252Gln)
c.2075T>A (p.Leu692Gln)
Xg.108668454T>CCA413848989COL4A5c.3740T>C (p.Leu1247Pro)
c.3416T>C (p.Leu1139Pro)
c.1313T>C (p.Leu438Pro)
c.3755T>C (p.Leu1252Pro)
c.2075T>C (p.Leu692Pro)
 dbSNP
Xg.108668454T>GCA413848987COL4A5c.3740T>G (p.Leu1247Arg)
c.3416T>G (p.Leu1139Arg)
c.1313T>G (p.Leu438Arg)
c.3755T>G (p.Leu1252Arg)
c.2075T>G (p.Leu692Arg)
Xg.108668454T=CA2450712973COL4A5c.3740T= (p.Leu1247=)
c.3416T= (p.Leu1139=)
c.1313T= (p.Leu438=)
c.3755T= (p.Leu1252=)
c.2075T= (p.Leu692=)
Xg.108668455G>ACA517922729COL4A5c.3741G>A (p.Leu1247=)
c.3417G>A (p.Leu1139=)
c.1314G>A (p.Leu438=)
c.3756G>A (p.Leu1252=)
c.2076G>A (p.Leu692=)
Xg.108668455G>CCA517922730COL4A5c.3741G>C (p.Leu1247=)
c.3417G>C (p.Leu1139=)
c.1314G>C (p.Leu438=)
c.3756G>C (p.Leu1252=)
c.2076G>C (p.Leu692=)
Xg.108668455G>TCA517922731COL4A5c.3741G>T (p.Leu1247=)
c.3417G>T (p.Leu1139=)
c.1314G>T (p.Leu438=)
c.3756G>T (p.Leu1252=)
c.2076G>T (p.Leu692=)
Xg.108668456delCA2822901963COL4A5c.3742del (p.Glu1248LysfsTer?)
c.3418del (p.Glu1140LysfsTer?)
c.1315del (p.Glu439LysfsTer?)
c.3757del (p.Glu1253LysfsTer?)
c.2077del (p.Glu693LysfsTer?)
Xg.108668456G>ACA413848992COL4A5c.3742G>A (p.Glu1248Lys)
c.3418G>A (p.Glu1140Lys)
c.1315G>A (p.Glu439Lys)
c.3757G>A (p.Glu1253Lys)
c.2077G>A (p.Glu693Lys)
 ClinVar gnomAD v4
Xg.108668456G>CCA413848994COL4A5c.3742G>C (p.Glu1248Gln)
c.3418G>C (p.Glu1140Gln)
c.1315G>C (p.Glu439Gln)
c.3757G>C (p.Glu1253Gln)
c.2077G>C (p.Glu693Gln)
Xg.108668456G>TCA413848995COL4A5c.3742G>T (p.Glu1248Ter)
c.3418G>T (p.Glu1140Ter)
c.1315G>T (p.Glu439Ter)
c.3757G>T (p.Glu1253Ter)
c.2077G>T (p.Glu693Ter)
Xg.108668457A=CA2450712974COL4A5c.3743A= (p.Glu1248=)
c.3419A= (p.Glu1140=)
c.1316A= (p.Glu439=)
c.3758A= (p.Glu1253=)
c.2078A= (p.Glu693=)
Xg.108668457A>CCA413848998COL4A5c.3743A>C (p.Glu1248Ala)
c.3419A>C (p.Glu1140Ala)
c.1316A>C (p.Glu439Ala)
c.3758A>C (p.Glu1253Ala)
c.2078A>C (p.Glu693Ala)
Xg.108668457A>GCA413849000COL4A5c.3743A>G (p.Glu1248Gly)
c.3419A>G (p.Glu1140Gly)
c.1316A>G (p.Glu439Gly)
c.3758A>G (p.Glu1253Gly)
c.2078A>G (p.Glu693Gly)
 dbSNP gnomAD v3 gnomAD v4
Xg.108668457A>TCA413849001COL4A5c.3743A>T (p.Glu1248Val)
c.3419A>T (p.Glu1140Val)
c.1316A>T (p.Glu439Val)
c.3758A>T (p.Glu1253Val)
c.2078A>T (p.Glu693Val)
Xg.108668458A>CCA413849003COL4A5c.3744A>C (p.Glu1248Asp)
c.3420A>C (p.Glu1140Asp)
c.1317A>C (p.Glu439Asp)
c.3759A>C (p.Glu1253Asp)
c.2079A>C (p.Glu693Asp)
Xg.108668458A>GCA517922732COL4A5c.3744A>G (p.Glu1248=)
c.3420A>G (p.Glu1140=)
c.1317A>G (p.Glu439=)
c.3759A>G (p.Glu1253=)
c.2079A>G (p.Glu693=)
Xg.108668458A>TCA413849004COL4A5c.3744A>T (p.Glu1248Asp)
c.3420A>T (p.Glu1140Asp)
c.1317A>T (p.Glu439Asp)
c.3759A>T (p.Glu1253Asp)
c.2079A>T (p.Glu693Asp)
Xg.108668458_108668459delinsAGCA2450712975COL4A5c.3744_3745delinsAG (p.Glu1248=)
c.3420_3421delinsAG (p.Glu1140=)
c.1317_1318delinsAG (p.Glu439=)
c.3759_3760delinsAG (p.Glu1253=)
c.2079_2080delinsAG (p.Glu693=)
Xg.108668459G>ACA10489164COL4A5c.3745G>A (p.Gly1249Arg)
c.3421G>A (p.Gly1141Arg)
c.1318G>A (p.Gly440Arg)
c.3760G>A (p.Gly1254Arg)
c.2080G>A (p.Gly694Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108668459G>CCA413849007COL4A5c.3745G>C (p.Gly1249Arg)
c.3421G>C (p.Gly1141Arg)
c.1318G>C (p.Gly440Arg)
c.3760G>C (p.Gly1254Arg)
c.2080G>C (p.Gly694Arg)
Xg.108668459G=CA2450712976COL4A5c.3745G= (p.Gly1249=)
c.3421G= (p.Gly1141=)
c.1318G= (p.Gly440=)
c.3760G= (p.Gly1254=)
c.2080G= (p.Gly694=)
Xg.108668459G>TCA413849009COL4A5c.3745G>T (p.Gly1249Ter)
c.3421G>T (p.Gly1141Ter)
c.1318G>T (p.Gly440Ter)
c.3760G>T (p.Gly1254Ter)
c.2080G>T (p.Gly694Ter)
Xg.108668460delCA891843684COL4A5c.3746del (p.Gly1249AspfsTer?)
c.3422del (p.Gly1141AspfsTer?)
c.1319del (p.Gly440AspfsTer?)
c.3761del (p.Gly1254AspfsTer?)
c.2081del (p.Gly694AspfsTer?)

Number of alleles fetched