Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108668320_108668505del | CA2695235652 | COL4A5 | c.3606_3790+1del c.3282_3466+1del c.1179_1363+1del c.3621_3805+1del c.1941_2125+1del | |
X | g.108668420_108668472delinsCCCCCAGGCCCTCCTGGTTCTCCGGGTCCAGCTCTGGAAGGACCTAAAGGCAA | CA2450712958 | COL4A5 | c.3706_3758delinsCCCCCAGGCCCTCCTGGTTCTCCGGGTCCAGCTCTGGAAGGACCTAAAGGCAA (p.Pro1236=) c.3382_3434delinsCCCCCAGGCCCTCCTGGTTCTCCGGGTCCAGCTCTGGAAGGACCTAAAGGCAA (p.Pro1128=) c.1279_1331delinsCCCCCAGGCCCTCCTGGTTCTCCGGGTCCAGCTCTGGAAGGACCTAAAGGCAA (p.Pro427=) c.3721_3773delinsCCCCCAGGCCCTCCTGGTTCTCCGGGTCCAGCTCTGGAAGGACCTAAAGGCAA (p.Pro1241=) c.2041_2093delinsCCCCCAGGCCCTCCTGGTTCTCCGGGTCCAGCTCTGGAAGGACCTAAAGGCAA (p.Pro681=) | |
X | g.108668424_108668475del | CA258940 | COL4A5 | c.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 |
X | g.108668467del | CA2579676918 | COL4A5 | c.3753del (p.Gly1252AlafsTer?) c.3429del (p.Gly1144AlafsTer?) c.1326del (p.Gly443AlafsTer?) c.3768del (p.Gly1257AlafsTer?) c.2088del (p.Gly697AlafsTer?) | |
X | g.108668466A= | CA2450712979 | COL4A5 | c.3752A= (p.Lys1251=) c.3428A= (p.Lys1143=) c.1325A= (p.Lys442=) c.3767A= (p.Lys1256=) c.2087A= (p.Lys696=) | |
X | g.108668466A>C | CA413849034 | COL4A5 | c.3752A>C (p.Lys1251Thr) c.3428A>C (p.Lys1143Thr) c.1325A>C (p.Lys442Thr) c.3767A>C (p.Lys1256Thr) c.2087A>C (p.Lys696Thr) | |
X | g.108668466A>G | CA413849035 | COL4A5 | c.3752A>G (p.Lys1251Arg) c.3428A>G (p.Lys1143Arg) c.1325A>G (p.Lys442Arg) c.3767A>G (p.Lys1256Arg) c.2087A>G (p.Lys696Arg) | |
X | g.108668466A>T | CA413849037 | COL4A5 | c.3752A>T (p.Lys1251Ile) c.3428A>T (p.Lys1143Ile) c.1325A>T (p.Lys442Ile) c.3767A>T (p.Lys1256Ile) c.2087A>T (p.Lys696Ile) | |
X | g.108668467A>C | CA413849038 | COL4A5 | c.3753A>C (p.Lys1251Asn) c.3429A>C (p.Lys1143Asn) c.1326A>C (p.Lys442Asn) c.3768A>C (p.Lys1256Asn) c.2088A>C (p.Lys696Asn) | |
X | g.108668467A>G | CA517922739 | COL4A5 | c.3753A>G (p.Lys1251=) c.3429A>G (p.Lys1143=) c.1326A>G (p.Lys442=) c.3768A>G (p.Lys1256=) c.2088A>G (p.Lys696=) | |
X | g.108668467A>T | CA413849041 | COL4A5 | c.3753A>T (p.Lys1251Asn) c.3429A>T (p.Lys1143Asn) c.1326A>T (p.Lys442Asn) c.3768A>T (p.Lys1256Asn) c.2088A>T (p.Lys696Asn) | |
X | g.108668468_108668471dup | CA258951 | COL4A5 | c.3754_3757dup (p.Asn1253ArgfsTer?) c.3754_3757dup (p.Asn1253ArgfsTer30) c.3430_3433dup (p.Asn1145ArgfsTer?) c.1327_1330dup (p.Asn444ArgfsTer?) c.3769_3772dup (p.Asn1258ArgfsTer?) c.3769_3772dup (p.Asn1258ArgfsTer30) c.2089_2092dup (p.Asn698ArgfsTer?) | dbSNP |
X | g.108668468G>A | CA258949 | COL4A5 | c.3754G>A (p.Gly1252Ser) c.3430G>A (p.Gly1144Ser) c.1327G>A (p.Gly443Ser) c.3769G>A (p.Gly1257Ser) c.2089G>A (p.Gly697Ser) | ClinVar dbSNP |
X | g.108668468G>C | CA413849043 | COL4A5 | c.3754G>C (p.Gly1252Arg) c.3430G>C (p.Gly1144Arg) c.1327G>C (p.Gly443Arg) c.3769G>C (p.Gly1257Arg) c.2089G>C (p.Gly697Arg) | |
X | g.108668468G= | CA2450712980 | COL4A5 | c.3754G= (p.Gly1252=) c.3430G= (p.Gly1144=) c.1327G= (p.Gly443=) c.3769G= (p.Gly1257=) c.2089G= (p.Gly697=) | |
X | g.108668468G>T | CA413849046 | COL4A5 | c.3754G>T (p.Gly1252Cys) c.3430G>T (p.Gly1144Cys) c.1327G>T (p.Gly443Cys) c.3769G>T (p.Gly1257Cys) c.2089G>T (p.Gly697Cys) | |
X | g.108668469G>A | CA413849049 | COL4A5 | c.3755G>A (p.Gly1252Asp) c.3431G>A (p.Gly1144Asp) c.1328G>A (p.Gly443Asp) c.3770G>A (p.Gly1257Asp) c.2090G>A (p.Gly697Asp) | ClinVar dbSNP |
X | g.108668469G>C | CA413849052 | COL4A5 | c.3755G>C (p.Gly1252Ala) c.3431G>C (p.Gly1144Ala) c.1328G>C (p.Gly443Ala) c.3770G>C (p.Gly1257Ala) c.2090G>C (p.Gly697Ala) | |
X | g.108668469G>T | CA413849050 | COL4A5 | c.3755G>T (p.Gly1252Val) c.3431G>T (p.Gly1144Val) c.1328G>T (p.Gly443Val) c.3770G>T (p.Gly1257Val) c.2090G>T (p.Gly697Val) | |
X | g.108668470C>A | CA517922740 | COL4A5 | c.3756C>A (p.Gly1252=) c.3432C>A (p.Gly1144=) c.1329C>A (p.Gly443=) c.3771C>A (p.Gly1257=) c.2091C>A (p.Gly697=) | gnomAD v4 |
X | g.108668470C>G | CA517922741 | COL4A5 | c.3756C>G (p.Gly1252=) c.3432C>G (p.Gly1144=) c.1329C>G (p.Gly443=) c.3771C>G (p.Gly1257=) c.2091C>G (p.Gly697=) | |
X | g.108668470C>T | CA517922742 | COL4A5 | c.3756C>T (p.Gly1252=) c.3432C>T (p.Gly1144=) c.1329C>T (p.Gly443=) c.3771C>T (p.Gly1257=) c.2091C>T (p.Gly697=) | |
X | g.108668471A>C | CA413849054 | COL4A5 | c.3757A>C (p.Asn1253His) c.3433A>C (p.Asn1145His) c.1330A>C (p.Asn444His) c.3772A>C (p.Asn1258His) c.2092A>C (p.Asn698His) | |
X | g.108668471A>G | CA413849058 | COL4A5 | c.3757A>G (p.Asn1253Asp) c.3433A>G (p.Asn1145Asp) c.1330A>G (p.Asn444Asp) c.3772A>G (p.Asn1258Asp) c.2092A>G (p.Asn698Asp) | |
X | g.108668471A>T | CA413849057 | COL4A5 | c.3757A>T (p.Asn1253Tyr) c.3433A>T (p.Asn1145Tyr) c.1330A>T (p.Asn444Tyr) c.3772A>T (p.Asn1258Tyr) c.2092A>T (p.Asn698Tyr) | |
X | g.108668472A>C | CA413849061 | COL4A5 | c.3758A>C (p.Asn1253Thr) c.3434A>C (p.Asn1145Thr) c.1331A>C (p.Asn444Thr) c.3773A>C (p.Asn1258Thr) c.2093A>C (p.Asn698Thr) | |
X | g.108668472A>G | CA413849063 | COL4A5 | c.3758A>G (p.Asn1253Ser) c.3434A>G (p.Asn1145Ser) c.1331A>G (p.Asn444Ser) c.3773A>G (p.Asn1258Ser) c.2093A>G (p.Asn698Ser) | |
X | g.108668472A>T | CA413849062 | COL4A5 | c.3758A>T (p.Asn1253Ile) c.3434A>T (p.Asn1145Ile) c.1331A>T (p.Asn444Ile) c.3773A>T (p.Asn1258Ile) c.2093A>T (p.Asn698Ile) | COSMIC COSMIC |
X | g.108668473C>A | CA413849065 | COL4A5 | c.3759C>A (p.Asn1253Lys) c.3435C>A (p.Asn1145Lys) c.1332C>A (p.Asn444Lys) c.3774C>A (p.Asn1258Lys) c.2094C>A (p.Asn698Lys) | |
X | g.108668473C>G | CA413849067 | COL4A5 | c.3759C>G (p.Asn1253Lys) c.3435C>G (p.Asn1145Lys) c.1332C>G (p.Asn444Lys) c.3774C>G (p.Asn1258Lys) c.2094C>G (p.Asn698Lys) | |
X | g.108668473C>T | CA517922743 | COL4A5 | c.3759C>T (p.Asn1253=) c.3435C>T (p.Asn1145=) c.1332C>T (p.Asn444=) c.3774C>T (p.Asn1258=) c.2094C>T (p.Asn698=) | gnomAD v4 |
X | g.108668474C>A | CA413849068 | COL4A5 | c.3760C>A (p.Pro1254Thr) c.3436C>A (p.Pro1146Thr) c.1333C>A (p.Pro445Thr) c.3775C>A (p.Pro1259Thr) c.2095C>A (p.Pro699Thr) | |
X | g.108668474C>G | CA413849070 | COL4A5 | c.3760C>G (p.Pro1254Ala) c.3436C>G (p.Pro1146Ala) c.1333C>G (p.Pro445Ala) c.3775C>G (p.Pro1259Ala) c.2095C>G (p.Pro699Ala) | |
X | g.108668474C>T | CA413849072 | COL4A5 | c.3760C>T (p.Pro1254Ser) c.3436C>T (p.Pro1146Ser) c.1333C>T (p.Pro445Ser) c.3775C>T (p.Pro1259Ser) c.2095C>T (p.Pro699Ser) | |
X | g.108668475C>A | CA413849074 | COL4A5 | c.3761C>A (p.Pro1254His) c.3437C>A (p.Pro1146His) c.1334C>A (p.Pro445His) c.3776C>A (p.Pro1259His) c.2096C>A (p.Pro699His) | |
X | g.108668475C>G | CA413849075 | COL4A5 | c.3761C>G (p.Pro1254Arg) c.3437C>G (p.Pro1146Arg) c.1334C>G (p.Pro445Arg) c.3776C>G (p.Pro1259Arg) c.2096C>G (p.Pro699Arg) | gnomAD v4 |
X | g.108668475C>T | CA413849077 | COL4A5 | c.3761C>T (p.Pro1254Leu) c.3437C>T (p.Pro1146Leu) c.1334C>T (p.Pro445Leu) c.3776C>T (p.Pro1259Leu) c.2096C>T (p.Pro699Leu) | |
X | g.108668476T>A | CA517922746 | COL4A5 | c.3762T>A (p.Pro1254=) c.3438T>A (p.Pro1146=) c.1335T>A (p.Pro445=) c.3777T>A (p.Pro1259=) c.2097T>A (p.Pro699=) | |
X | g.108668476T>C | CA517922745 | COL4A5 | c.3762T>C (p.Pro1254=) c.3438T>C (p.Pro1146=) c.1335T>C (p.Pro445=) c.3777T>C (p.Pro1259=) c.2097T>C (p.Pro699=) | |
X | g.108668476T>G | CA517922744 | COL4A5 | c.3762T>G (p.Pro1254=) c.3438T>G (p.Pro1146=) c.1335T>G (p.Pro445=) c.3777T>G (p.Pro1259=) c.2097T>G (p.Pro699=) | |
X | g.108668477G>A | CA258952 | COL4A5 | c.3763G>A (p.Gly1255Arg) c.3439G>A (p.Gly1147Arg) c.1336G>A (p.Gly446Arg) c.3778G>A (p.Gly1260Arg) c.2098G>A (p.Gly700Arg) | dbSNP |
X | g.108668477G>C | CA413849080 | COL4A5 | c.3763G>C (p.Gly1255Arg) c.3439G>C (p.Gly1147Arg) c.1336G>C (p.Gly446Arg) c.3778G>C (p.Gly1260Arg) c.2098G>C (p.Gly700Arg) | |
X | g.108668477G= | CA2450712981 | COL4A5 | c.3763G= (p.Gly1255=) c.3439G= (p.Gly1147=) c.1336G= (p.Gly446=) c.3778G= (p.Gly1260=) c.2098G= (p.Gly700=) | |
X | g.108668477G>T | CA413849081 | COL4A5 | c.3763G>T (p.Gly1255Trp) c.3439G>T (p.Gly1147Trp) c.1336G>T (p.Gly446Trp) c.3778G>T (p.Gly1260Trp) c.2098G>T (p.Gly700Trp) | |
X | g.108668478G>A | CA413849085 | COL4A5 | c.3764G>A (p.Gly1255Glu) c.3440G>A (p.Gly1147Glu) c.1337G>A (p.Gly446Glu) c.3779G>A (p.Gly1260Glu) c.2099G>A (p.Gly700Glu) | |
X | g.108668478G>C | CA413849086 | COL4A5 | c.3764G>C (p.Gly1255Ala) c.3440G>C (p.Gly1147Ala) c.1337G>C (p.Gly446Ala) c.3779G>C (p.Gly1260Ala) c.2099G>C (p.Gly700Ala) | gnomAD v4 |
X | g.108668478G>T | CA413849088 | COL4A5 | c.3764G>T (p.Gly1255Val) c.3440G>T (p.Gly1147Val) c.1337G>T (p.Gly446Val) c.3779G>T (p.Gly1260Val) c.2099G>T (p.Gly700Val) | |
X | g.108668479G>A | CA517922749 | COL4A5 | c.3765G>A (p.Gly1255=) c.3441G>A (p.Gly1147=) c.1338G>A (p.Gly446=) c.3780G>A (p.Gly1260=) c.2100G>A (p.Gly700=) | |
X | g.108668479G>C | CA517922747 | COL4A5 | c.3765G>C (p.Gly1255=) c.3441G>C (p.Gly1147=) c.1338G>C (p.Gly446=) c.3780G>C (p.Gly1260=) c.2100G>C (p.Gly700=) | |
X | g.108668479G>T | CA517922748 | COL4A5 | c.3765G>T (p.Gly1255=) c.3441G>T (p.Gly1147=) c.1338G>T (p.Gly446=) c.3780G>T (p.Gly1260=) c.2100G>T (p.Gly700=) | |
X | g.108668480C>A | CA413849090 | COL4A5 | c.3766C>A (p.Pro1256Thr) c.3442C>A (p.Pro1148Thr) c.1339C>A (p.Pro447Thr) c.3781C>A (p.Pro1261Thr) c.2101C>A (p.Pro701Thr) | |
X | g.108668480C>G | CA413849093 | COL4A5 | c.3766C>G (p.Pro1256Ala) c.3442C>G (p.Pro1148Ala) c.1339C>G (p.Pro447Ala) c.3781C>G (p.Pro1261Ala) c.2101C>G (p.Pro701Ala) | |
X | g.108668480C>T | CA413849092 | COL4A5 | c.3766C>T (p.Pro1256Ser) c.3442C>T (p.Pro1148Ser) c.1339C>T (p.Pro447Ser) c.3781C>T (p.Pro1261Ser) c.2101C>T (p.Pro701Ser) | |
X | g.108668481C>A | CA413849096 | COL4A5 | c.3767C>A (p.Pro1256His) c.3443C>A (p.Pro1148His) c.1340C>A (p.Pro447His) c.3782C>A (p.Pro1261His) c.2102C>A (p.Pro701His) | |
X | g.108668481C>G | CA413849097 | COL4A5 | c.3767C>G (p.Pro1256Arg) c.3443C>G (p.Pro1148Arg) c.1340C>G (p.Pro447Arg) c.3782C>G (p.Pro1261Arg) c.2102C>G (p.Pro701Arg) | |
X | g.108668481C>T | CA413849099 | COL4A5 | c.3767C>T (p.Pro1256Leu) c.3443C>T (p.Pro1148Leu) c.1340C>T (p.Pro447Leu) c.3782C>T (p.Pro1261Leu) c.2102C>T (p.Pro701Leu) | |
X | g.108668482C>A | CA517922750 | COL4A5 | c.3768C>A (p.Pro1256=) c.3444C>A (p.Pro1148=) c.1341C>A (p.Pro447=) c.3783C>A (p.Pro1261=) c.2103C>A (p.Pro701=) | |
X | g.108668482C= | CA2450712982 | COL4A5 | c.3768C= (p.Pro1256=) c.3444C= (p.Pro1148=) c.1341C= (p.Pro447=) c.3783C= (p.Pro1261=) c.2103C= (p.Pro701=) | |
X | g.108668482C>G | CA517922751 | COL4A5 | c.3768C>G (p.Pro1256=) c.3444C>G (p.Pro1148=) c.1341C>G (p.Pro447=) c.3783C>G (p.Pro1261=) c.2103C>G (p.Pro701=) | |
X | g.108668482C>T | CA334046986 | COL4A5 | c.3768C>T (p.Pro1256=) c.3444C>T (p.Pro1148=) c.1341C>T (p.Pro447=) c.3783C>T (p.Pro1261=) c.2103C>T (p.Pro701=) | dbSNP |
X | g.108668483C>A | CA413849101 | COL4A5 | c.3769C>A (p.Gln1257Lys) c.3445C>A (p.Gln1149Lys) c.1342C>A (p.Gln448Lys) c.3784C>A (p.Gln1262Lys) c.2104C>A (p.Gln702Lys) | |
X | g.108668483C= | CA2450712983 | COL4A5 | c.3769C= (p.Gln1257=) c.3445C= (p.Gln1149=) c.1342C= (p.Gln448=) c.3784C= (p.Gln1262=) c.2104C= (p.Gln702=) | |
X | g.108668483C>G | CA413849103 | COL4A5 | c.3769C>G (p.Gln1257Glu) c.3445C>G (p.Gln1149Glu) c.1342C>G (p.Gln448Glu) c.3784C>G (p.Gln1262Glu) c.2104C>G (p.Gln702Glu) | |
X | g.108668483C>T | CA413849104 | COL4A5 | c.3769C>T (p.Gln1257Ter) c.3445C>T (p.Gln1149Ter) c.1342C>T (p.Gln448Ter) c.3784C>T (p.Gln1262Ter) c.2104C>T (p.Gln702Ter) | ClinVar dbSNP |
X | g.108668484A= | CA2450712984 | COL4A5 | c.3770A= (p.Gln1257=) c.3446A= (p.Gln1149=) c.1343A= (p.Gln448=) c.3785A= (p.Gln1262=) c.2105A= (p.Gln702=) | |
X | g.108668484A>C | CA413849105 | COL4A5 | c.3770A>C (p.Gln1257Pro) c.3446A>C (p.Gln1149Pro) c.1343A>C (p.Gln448Pro) c.3785A>C (p.Gln1262Pro) c.2105A>C (p.Gln702Pro) | |
X | g.108668484A>G | CA413849106 | COL4A5 | c.3770A>G (p.Gln1257Arg) c.3446A>G (p.Gln1149Arg) c.1343A>G (p.Gln448Arg) c.3785A>G (p.Gln1262Arg) c.2105A>G (p.Gln702Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108668484A>T | CA413849108 | COL4A5 | c.3770A>T (p.Gln1257Leu) c.3446A>T (p.Gln1149Leu) c.1343A>T (p.Gln448Leu) c.3785A>T (p.Gln1262Leu) c.2105A>T (p.Gln702Leu) | COSMIC |
X | g.108668485A= | CA2450712985 | COL4A5 | c.3771A= (p.Gln1257=) c.3447A= (p.Gln1149=) c.1344A= (p.Gln448=) c.3786A= (p.Gln1262=) c.2106A= (p.Gln702=) | |
X | g.108668485A>C | CA413849112 | COL4A5 | c.3771A>C (p.Gln1257His) c.3447A>C (p.Gln1149His) c.1344A>C (p.Gln448His) c.3786A>C (p.Gln1262His) c.2106A>C (p.Gln702His) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108668485A>G | CA10489165 | COL4A5 | c.3771A>G (p.Gln1257=) c.3447A>G (p.Gln1149=) c.1344A>G (p.Gln448=) c.3786A>G (p.Gln1262=) c.2106A>G (p.Gln702=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108668485A>T | CA10489166 | COL4A5 | c.3771A>T (p.Gln1257His) c.3447A>T (p.Gln1149His) c.1344A>T (p.Gln448His) c.3786A>T (p.Gln1262His) c.2106A>T (p.Gln702His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108668486G>A | CA413849115 | COL4A5 | c.3772G>A (p.Gly1258Ser) c.3448G>A (p.Gly1150Ser) c.1345G>A (p.Gly449Ser) c.3787G>A (p.Gly1263Ser) c.2107G>A (p.Gly703Ser) | ClinVar dbSNP |
X | g.108668486G>C | CA413849116 | COL4A5 | c.3772G>C (p.Gly1258Arg) c.3448G>C (p.Gly1150Arg) c.1345G>C (p.Gly449Arg) c.3787G>C (p.Gly1263Arg) c.2107G>C (p.Gly703Arg) | |
X | g.108668486G= | CA2450712986 | COL4A5 | c.3772G= (p.Gly1258=) c.3448G= (p.Gly1150=) c.1345G= (p.Gly449=) c.3787G= (p.Gly1263=) c.2107G= (p.Gly703=) | |
X | g.108668486G>T | CA413849118 | COL4A5 | c.3772G>T (p.Gly1258Cys) c.3448G>T (p.Gly1150Cys) c.1345G>T (p.Gly449Cys) c.3787G>T (p.Gly1263Cys) c.2107G>T (p.Gly703Cys) | |
X | g.108668487G>A | CA413849120 | COL4A5 | c.3773G>A (p.Gly1258Asp) c.3449G>A (p.Gly1150Asp) c.1346G>A (p.Gly449Asp) c.3788G>A (p.Gly1263Asp) c.2108G>A (p.Gly703Asp) | ClinVar |
X | g.108668487G>C | CA413849122 | COL4A5 | c.3773G>C (p.Gly1258Ala) c.3449G>C (p.Gly1150Ala) c.1346G>C (p.Gly449Ala) c.3788G>C (p.Gly1263Ala) c.2108G>C (p.Gly703Ala) | |
X | g.108668487G>T | CA413849123 | COL4A5 | c.3773G>T (p.Gly1258Val) c.3449G>T (p.Gly1150Val) c.1346G>T (p.Gly449Val) c.3788G>T (p.Gly1263Val) c.2108G>T (p.Gly703Val) | ClinVar |
X | g.108668488T>A | CA517922752 | COL4A5 | c.3774T>A (p.Gly1258=) c.3450T>A (p.Gly1150=) c.1347T>A (p.Gly449=) c.3789T>A (p.Gly1263=) c.2109T>A (p.Gly703=) | gnomAD v4 |
X | g.108668488T>C | CA517922753 | COL4A5 | c.3774T>C (p.Gly1258=) c.3450T>C (p.Gly1150=) c.1347T>C (p.Gly449=) c.3789T>C (p.Gly1263=) c.2109T>C (p.Gly703=) | |
X | g.108668488T>G | CA517922754 | COL4A5 | c.3774T>G (p.Gly1258=) c.3450T>G (p.Gly1150=) c.1347T>G (p.Gly449=) c.3789T>G (p.Gly1263=) c.2109T>G (p.Gly703=) | |
X | g.108668489C>A | CA334047031 | COL4A5 | c.3775C>A (p.Pro1259Thr) c.3451C>A (p.Pro1151Thr) c.1348C>A (p.Pro450Thr) c.3790C>A (p.Pro1264Thr) c.2110C>A (p.Pro704Thr) | dbSNP |
X | g.108668489C= | CA2450712987 | COL4A5 | c.3775C= (p.Pro1259=) c.3451C= (p.Pro1151=) c.1348C= (p.Pro450=) c.3790C= (p.Pro1264=) c.2110C= (p.Pro704=) | |
X | g.108668489C>G | CA413849126 | COL4A5 | c.3775C>G (p.Pro1259Ala) c.3451C>G (p.Pro1151Ala) c.1348C>G (p.Pro450Ala) c.3790C>G (p.Pro1264Ala) c.2110C>G (p.Pro704Ala) | |
X | g.108668489C>T | CA413849128 | COL4A5 | c.3775C>T (p.Pro1259Ser) c.3451C>T (p.Pro1151Ser) c.1348C>T (p.Pro450Ser) c.3790C>T (p.Pro1264Ser) c.2110C>T (p.Pro704Ser) | |
X | g.108668490C>A | CA413849130 | COL4A5 | c.3776C>A (p.Pro1259His) c.3452C>A (p.Pro1151His) c.1349C>A (p.Pro450His) c.3791C>A (p.Pro1264His) c.2111C>A (p.Pro704His) | |
X | g.108668490C>G | CA413849132 | COL4A5 | c.3776C>G (p.Pro1259Arg) c.3452C>G (p.Pro1151Arg) c.1349C>G (p.Pro450Arg) c.3791C>G (p.Pro1264Arg) c.2111C>G (p.Pro704Arg) | |
X | g.108668490C>T | CA413849134 | COL4A5 | c.3776C>T (p.Pro1259Leu) c.3452C>T (p.Pro1151Leu) c.1349C>T (p.Pro450Leu) c.3791C>T (p.Pro1264Leu) c.2111C>T (p.Pro704Leu) | |
X | g.108668491T>A | CA517922755 | COL4A5 | c.3777T>A (p.Pro1259=) c.3453T>A (p.Pro1151=) c.1350T>A (p.Pro450=) c.3792T>A (p.Pro1264=) c.2112T>A (p.Pro704=) | |
X | g.108668491T>C | CA517922756 | COL4A5 | c.3777T>C (p.Pro1259=) c.3453T>C (p.Pro1151=) c.1350T>C (p.Pro450=) c.3792T>C (p.Pro1264=) c.2112T>C (p.Pro704=) | |
X | g.108668491T>G | CA517922757 | COL4A5 | c.3777T>G (p.Pro1259=) c.3453T>G (p.Pro1151=) c.1350T>G (p.Pro450=) c.3792T>G (p.Pro1264=) c.2112T>G (p.Pro704=) | |
X | g.108668492C>A | CA413849139 | COL4A5 | c.3778C>A (p.Pro1260Thr) c.3454C>A (p.Pro1152Thr) c.1351C>A (p.Pro451Thr) c.3793C>A (p.Pro1265Thr) c.2113C>A (p.Pro705Thr) | gnomAD v4 |
X | g.108668492C= | CA2450712988 | COL4A5 | c.3778C= (p.Pro1260=) c.3454C= (p.Pro1152=) c.1351C= (p.Pro451=) c.3793C= (p.Pro1265=) c.2113C= (p.Pro705=) | |
X | g.108668492C>G | CA334047034 | COL4A5 | c.3778C>G (p.Pro1260Ala) c.3454C>G (p.Pro1152Ala) c.1351C>G (p.Pro451Ala) c.3793C>G (p.Pro1265Ala) c.2113C>G (p.Pro705Ala) | dbSNP |
X | g.108668492C>T | CA413849137 | COL4A5 | c.3778C>T (p.Pro1260Ser) c.3454C>T (p.Pro1152Ser) c.1351C>T (p.Pro451Ser) c.3793C>T (p.Pro1265Ser) c.2113C>T (p.Pro705Ser) | |
X | g.108668493C>A | CA413849141 | COL4A5 | c.3779C>A (p.Pro1260His) c.3455C>A (p.Pro1152His) c.1352C>A (p.Pro451His) c.3794C>A (p.Pro1265His) c.2114C>A (p.Pro705His) | |
X | g.108668493C= | CA2450712989 | COL4A5 | c.3779C= (p.Pro1260=) c.3455C= (p.Pro1152=) c.1352C= (p.Pro451=) c.3794C= (p.Pro1265=) c.2114C= (p.Pro705=) | |
X | g.108668493C>G | CA413849143 | COL4A5 | c.3779C>G (p.Pro1260Arg) c.3455C>G (p.Pro1152Arg) c.1352C>G (p.Pro451Arg) c.3794C>G (p.Pro1265Arg) c.2114C>G (p.Pro705Arg) | |
X | g.108668493C>T | CA413849145 | COL4A5 | c.3779C>T (p.Pro1260Leu) c.3455C>T (p.Pro1152Leu) c.1352C>T (p.Pro451Leu) c.3794C>T (p.Pro1265Leu) c.2114C>T (p.Pro705Leu) | dbSNP gnomAD v4 |
X | g.108668494T>A | CA517922759 | COL4A5 | c.3780T>A (p.Pro1260=) c.3456T>A (p.Pro1152=) c.1353T>A (p.Pro451=) c.3795T>A (p.Pro1265=) c.2115T>A (p.Pro705=) | |
X | g.108668494T>C | CA517922760 | COL4A5 | c.3780T>C (p.Pro1260=) c.3456T>C (p.Pro1152=) c.1353T>C (p.Pro451=) c.3795T>C (p.Pro1265=) c.2115T>C (p.Pro705=) | |
X | g.108668494T>G | CA517922758 | COL4A5 | c.3780T>G (p.Pro1260=) c.3456T>G (p.Pro1152=) c.1353T>G (p.Pro451=) c.3795T>G (p.Pro1265=) c.2115T>G (p.Pro705=) | |
X | g.108668495G>A | CA413849147 | COL4A5 | c.3781G>A (p.Gly1261Arg) c.3457G>A (p.Gly1153Arg) c.1354G>A (p.Gly452Arg) c.3796G>A (p.Gly1266Arg) c.2116G>A (p.Gly706Arg) | ClinVar dbSNP |
X | g.108668495G>C | CA413849148 | COL4A5 | c.3781G>C (p.Gly1261Arg) c.3457G>C (p.Gly1153Arg) c.1354G>C (p.Gly452Arg) c.3796G>C (p.Gly1266Arg) c.2116G>C (p.Gly706Arg) | |
X | g.108668495G>T | CA413849149 | COL4A5 | c.3781G>T (p.Gly1261Trp) c.3457G>T (p.Gly1153Trp) c.1354G>T (p.Gly452Trp) c.3796G>T (p.Gly1266Trp) c.2116G>T (p.Gly706Trp) | |
X | g.108668496_108668497del | CA2580100190 | COL4A5 | c.3782_3783del (p.Gly1261GlufsTer26) c.3782_3783del (p.Gly1261GlufsTer20) c.3782_3783del (p.Gly1261GlufsTer23) c.3458_3459del (p.Gly1153GlufsTer26) c.3782_3783del (p.Gly1261GlufsTer28) c.1355_1356del (p.Gly452GlufsTer26) c.3797_3798del (p.Gly1266GlufsTer26) c.3797_3798del (p.Gly1266GlufsTer23) c.3797_3798del (p.Gly1266GlufsTer20) c.3797_3798del (p.Gly1266GlufsTer28) c.2117_2118del (p.Gly706GlufsTer26) | ClinVar |
X | g.108668496G>A | CA258955 | COL4A5 | c.3782G>A (p.Gly1261Glu) c.3458G>A (p.Gly1153Glu) c.1355G>A (p.Gly452Glu) c.3797G>A (p.Gly1266Glu) c.2117G>A (p.Gly706Glu) | ClinVar dbSNP |
X | g.108668496G>C | CA413849152 | COL4A5 | c.3782G>C (p.Gly1261Ala) c.3458G>C (p.Gly1153Ala) c.1355G>C (p.Gly452Ala) c.3797G>C (p.Gly1266Ala) c.2117G>C (p.Gly706Ala) | |
X | g.108668496G= | CA2450712990 | COL4A5 | c.3782G= (p.Gly1261=) c.3458G= (p.Gly1153=) c.1355G= (p.Gly452=) c.3797G= (p.Gly1266=) c.2117G= (p.Gly706=) | |
X | g.108668496G>T | CA413849153 | COL4A5 | c.3782G>T (p.Gly1261Val) c.3458G>T (p.Gly1153Val) c.1355G>T (p.Gly452Val) c.3797G>T (p.Gly1266Val) c.2117G>T (p.Gly706Val) | |
X | g.108668497G>A | CA517922763 | COL4A5 | c.3783G>A (p.Gly1261=) c.3459G>A (p.Gly1153=) c.1356G>A (p.Gly452=) c.3798G>A (p.Gly1266=) c.2118G>A (p.Gly706=) | COSMIC COSMIC |
X | g.108668497G>C | CA517922761 | COL4A5 | c.3783G>C (p.Gly1261=) c.3459G>C (p.Gly1153=) c.1356G>C (p.Gly452=) c.3798G>C (p.Gly1266=) c.2118G>C (p.Gly706=) | gnomAD v4 |
X | g.108668497G>T | CA517922762 | COL4A5 | c.3783G>T (p.Gly1261=) c.3459G>T (p.Gly1153=) c.1356G>T (p.Gly452=) c.3798G>T (p.Gly1266=) c.2118G>T (p.Gly706=) | |
X | g.108668498del | CA2580100191 | COL4A5 | c.3784del (p.Arg1262AspfsTer?) c.3460del (p.Arg1154AspfsTer?) c.1357del (p.Arg453AspfsTer?) c.3799del (p.Arg1267AspfsTer?) c.2119del (p.Arg707AspfsTer?) | ClinVar |
X | g.108668498A>C | CA517922764 | COL4A5 | c.3784A>C (p.Arg1262=) c.3460A>C (p.Arg1154=) c.1357A>C (p.Arg453=) c.3799A>C (p.Arg1267=) c.2119A>C (p.Arg707=) | |
X | g.108668498A>G | CA413849155 | COL4A5 | c.3784A>G (p.Arg1262Gly) c.3460A>G (p.Arg1154Gly) c.1357A>G (p.Arg453Gly) c.3799A>G (p.Arg1267Gly) c.2119A>G (p.Arg707Gly) | |
X | g.108668498A>T | CA413849157 | COL4A5 | c.3784A>T (p.Arg1262Ter) c.3460A>T (p.Arg1154Ter) c.1357A>T (p.Arg453Ter) c.3799A>T (p.Arg1267Ter) c.2119A>T (p.Arg707Ter) | ClinVar |
X | g.108668499G>A | CA413849160 | COL4A5 | c.3785G>A (p.Arg1262Lys) c.3461G>A (p.Arg1154Lys) c.1358G>A (p.Arg453Lys) c.3800G>A (p.Arg1267Lys) c.2120G>A (p.Arg707Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108668499G>C | CA413849162 | COL4A5 | c.3785G>C (p.Arg1262Thr) c.3461G>C (p.Arg1154Thr) c.1358G>C (p.Arg453Thr) c.3800G>C (p.Arg1267Thr) c.2120G>C (p.Arg707Thr) | |
X | g.108668499G= | CA2450712991 | COL4A5 | c.3785G= (p.Arg1262=) c.3461G= (p.Arg1154=) c.1358G= (p.Arg453=) c.3800G= (p.Arg1267=) c.2120G= (p.Arg707=) | |
X | g.108668499G>T | CA413849158 | COL4A5 | c.3785G>T (p.Arg1262Ile) c.3461G>T (p.Arg1154Ile) c.1358G>T (p.Arg453Ile) c.3800G>T (p.Arg1267Ile) c.2120G>T (p.Arg707Ile) | |
X | g.108668500A>C | CA413849165 | COL4A5 | c.3786A>C (p.Arg1262Ser) c.3462A>C (p.Arg1154Ser) c.1359A>C (p.Arg453Ser) c.3801A>C (p.Arg1267Ser) c.2121A>C (p.Arg707Ser) | |
X | g.108668500A>G | CA517922765 | COL4A5 | c.3786A>G (p.Arg1262=) c.3462A>G (p.Arg1154=) c.1359A>G (p.Arg453=) c.3801A>G (p.Arg1267=) c.2121A>G (p.Arg707=) | gnomAD v4 |
X | g.108668500A>T | CA413849163 | COL4A5 | c.3786A>T (p.Arg1262Ser) c.3462A>T (p.Arg1154Ser) c.1359A>T (p.Arg453Ser) c.3801A>T (p.Arg1267Ser) c.2121A>T (p.Arg707Ser) | |
X | g.108668501C>A | CA413849167 | COL4A5 | c.3787C>A (p.Pro1263Thr) c.3463C>A (p.Pro1155Thr) c.1360C>A (p.Pro454Thr) c.3802C>A (p.Pro1268Thr) c.2122C>A (p.Pro708Thr) | dbSNP |
X | g.108668501C= | CA2450712992 | COL4A5 | c.3787C= (p.Pro1263=) c.3463C= (p.Pro1155=) c.1360C= (p.Pro454=) c.3802C= (p.Pro1268=) c.2122C= (p.Pro708=) | |
X | g.108668501C>G | CA413849168 | COL4A5 | c.3787C>G (p.Pro1263Ala) c.3463C>G (p.Pro1155Ala) c.1360C>G (p.Pro454Ala) c.3802C>G (p.Pro1268Ala) c.2122C>G (p.Pro708Ala) | |
X | g.108668501C>T | CA334047053 | COL4A5 | c.3787C>T (p.Pro1263Ser) c.3463C>T (p.Pro1155Ser) c.1360C>T (p.Pro454Ser) c.3802C>T (p.Pro1268Ser) c.2122C>T (p.Pro708Ser) | ClinVar dbSNP |
X | g.108668502del | CA2579676919 | COL4A5 | c.3788del (p.Pro1263GlnfsTer?) c.3464del (p.Pro1155GlnfsTer?) c.1361del (p.Pro454GlnfsTer?) c.3803del (p.Pro1268GlnfsTer?) c.2123del (p.Pro708GlnfsTer?) | |
X | g.108668502C>A | CA413849171 | COL4A5 | c.3788C>A (p.Pro1263Gln) c.3464C>A (p.Pro1155Gln) c.1361C>A (p.Pro454Gln) c.3803C>A (p.Pro1268Gln) c.2123C>A (p.Pro708Gln) | gnomAD v4 |
X | g.108668502C>G | CA413849173 | COL4A5 | c.3788C>G (p.Pro1263Arg) c.3464C>G (p.Pro1155Arg) c.1361C>G (p.Pro454Arg) c.3803C>G (p.Pro1268Arg) c.2123C>G (p.Pro708Arg) | |
X | g.108668502C>T | CA413849175 | COL4A5 | c.3788C>T (p.Pro1263Leu) c.3464C>T (p.Pro1155Leu) c.1361C>T (p.Pro454Leu) c.3803C>T (p.Pro1268Leu) c.2123C>T (p.Pro708Leu) | gnomAD v4 |
X | g.108668503A>C | CA517922766 | COL4A5 | c.3789A>C (p.Pro1263=) c.3465A>C (p.Pro1155=) c.1362A>C (p.Pro454=) c.3804A>C (p.Pro1268=) c.2124A>C (p.Pro708=) | |
X | g.108668503A>G | CA517922767 | COL4A5 | c.3789A>G (p.Pro1263=) c.3465A>G (p.Pro1155=) c.1362A>G (p.Pro454=) c.3804A>G (p.Pro1268=) c.2124A>G (p.Pro708=) | |
X | g.108668503A>T | CA517922768 | COL4A5 | c.3789A>T (p.Pro1263=) c.3465A>T (p.Pro1155=) c.1362A>T (p.Pro454=) c.3804A>T (p.Pro1268=) c.2124A>T (p.Pro708=) | |
X | g.108668503_108668504delinsAG | CA2450712993 | COL4A5 | c.3789_3790delinsAG (p.Pro1263=) c.3465_3466delinsAG (p.Pro1155=) c.1362_1363delinsAG (p.Pro454=) c.3804_3805delinsAG (p.Pro1268=) c.2124_2125delinsAG (p.Pro708=) | |
X | g.108668504G>A | CA413849176 | COL4A5 | c.3790G>A (p.Gly1264Ser) c.3466G>A (p.Gly1156Ser) c.1363G>A (p.Gly455Ser) c.3805G>A (p.Gly1269Ser) c.2125G>A (p.Gly709Ser) | |
X | g.108668504G>C | CA413849179 | COL4A5 | c.3790G>C (p.Gly1264Arg) c.3466G>C (p.Gly1156Arg) c.1363G>C (p.Gly455Arg) c.3805G>C (p.Gly1269Arg) c.2125G>C (p.Gly709Arg) | |
X | g.108668504G>T | CA413849177 | COL4A5 | c.3790G>T (p.Gly1264Cys) c.3466G>T (p.Gly1156Cys) c.1363G>T (p.Gly455Cys) c.3805G>T (p.Gly1269Cys) c.2125G>T (p.Gly709Cys) | |
X | g.108668505del | CA258957 | COL4A5 | c.3790+1del c.3466+1del c.1363+1del c.3805+1del c.2125+1del | dbSNP |
X | g.108668505G>A | CA413849181 | COL4A5 | c.3790+1G>A (n.3790+1G>A) c.3466+1G>A (n.3466+1G>A) c.1363+1G>A (n.1363+1G>A) c.3805+1G>A (n.3805+1G>A) c.2125+1G>A (n.2125+1G>A) | |
X | g.108668505G>C | CA413849182 | COL4A5 | c.3790+1G>C (n.3790+1G>C) c.3466+1G>C (n.3466+1G>C) c.1363+1G>C (n.1363+1G>C) c.3805+1G>C (n.3805+1G>C) c.2125+1G>C (n.2125+1G>C) | |
X | g.108668505G>T | CA413849183 | COL4A5 | c.3790+1G>T (n.3790+1G>T) c.3466+1G>T (n.3466+1G>T) c.1363+1G>T (n.1363+1G>T) c.3805+1G>T (n.3805+1G>T) c.2125+1G>T (n.2125+1G>T) | |
X | g.108668506T>A | CA413849184 | COL4A5 | c.3790+2T>A (n.3790+2T>A) c.3466+2T>A (n.3466+2T>A) c.1363+2T>A (n.1363+2T>A) c.3805+2T>A (n.3805+2T>A) c.2125+2T>A (n.2125+2T>A) | |
X | g.108668506T>C | CA413849186 | COL4A5 | c.3790+2T>C (n.3790+2T>C) c.3466+2T>C (n.3466+2T>C) c.1363+2T>C (n.1363+2T>C) c.3805+2T>C (n.3805+2T>C) c.2125+2T>C (n.2125+2T>C) | |
X | g.108668506T>G | CA413849185 | COL4A5 | c.3790+2T>G (n.3790+2T>G) c.3466+2T>G (n.3466+2T>G) c.1363+2T>G (n.1363+2T>G) c.3805+2T>G (n.3805+2T>G) c.2125+2T>G (n.2125+2T>G) | |
X | g.108668509G>A | CA10489167 | COL4A5 | c.3790+5G>A (n.3790+5G>A) c.3466+5G>A (n.3466+5G>A) c.1363+5G>A (n.1363+5G>A) c.3805+5G>A (n.3805+5G>A) c.2125+5G>A (n.2125+5G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108668509G= | CA2450712994 | COL4A5 | c.3790+5G= (n.3790+5G=) c.3466+5G= (n.3466+5G=) c.1363+5G= (n.1363+5G=) c.3805+5G= (n.3805+5G=) c.2125+5G= (n.2125+5G=) | |
X | g.108668511C>A | CA2558113611 | COL4A5 | c.3790+7C>A (n.3790+7C>A) c.3466+7C>A (n.3466+7C>A) c.1363+7C>A (n.1363+7C>A) c.3805+7C>A (n.3805+7C>A) c.2125+7C>A (n.2125+7C>A) | |
X | g.108668512C>A | CA10489169 | COL4A5 | c.3790+8C>A (n.3790+8C>A) c.3466+8C>A (n.3466+8C>A) c.1363+8C>A (n.1363+8C>A) c.3805+8C>A (n.3805+8C>A) c.2125+8C>A (n.2125+8C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108668512C= | CA2450712995 | COL4A5 | c.3790+8C= (n.3790+8C=) c.3466+8C= (n.3466+8C=) c.1363+8C= (n.1363+8C=) c.3805+8C= (n.3805+8C=) c.2125+8C= (n.2125+8C=) | |
X | g.108668512C>T | CA10489168 | COL4A5 | c.3790+8C>T (n.3790+8C>T) c.3466+8C>T (n.3466+8C>T) c.1363+8C>T (n.1363+8C>T) c.3805+8C>T (n.3805+8C>T) c.2125+8C>T (n.2125+8C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108668513G>A | CA10489170 | COL4A5 | c.3790+9G>A (n.3790+9G>A) c.3466+9G>A (n.3466+9G>A) c.1363+9G>A (n.1363+9G>A) c.3805+9G>A (n.3805+9G>A) c.2125+9G>A (n.2125+9G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108668513G= | CA2450712996 | COL4A5 | c.3790+9G= (n.3790+9G=) c.3466+9G= (n.3466+9G=) c.1363+9G= (n.1363+9G=) c.3805+9G= (n.3805+9G=) c.2125+9G= (n.2125+9G=) | |
X | g.108668515G>A | CA643636687 | COL4A5 | c.3790+11G>A (n.3790+11G>A) c.3466+11G>A (n.3466+11G>A) c.1363+11G>A (n.1363+11G>A) c.3805+11G>A (n.3805+11G>A) c.2125+11G>A (n.2125+11G>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108668515G= | CA2450712997 | COL4A5 | c.3790+11G= (n.3790+11G=) c.3466+11G= (n.3466+11G=) c.1363+11G= (n.1363+11G=) c.3805+11G= (n.3805+11G=) c.2125+11G= (n.2125+11G=) | |
X | g.108668515G>T | CA2694441656 | COL4A5 | c.3790+11G>T (n.3790+11G>T) c.3466+11G>T (n.3466+11G>T) c.1363+11G>T (n.1363+11G>T) c.3805+11G>T (n.3805+11G>T) c.2125+11G>T (n.2125+11G>T) | gnomAD v4 |
X | g.108668517G>A | CA869813449 | COL4A5 | c.3790+13G>A (n.3790+13G>A) c.3466+13G>A (n.3466+13G>A) c.1363+13G>A (n.1363+13G>A) c.3805+13G>A (n.3805+13G>A) c.2125+13G>A (n.2125+13G>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108668517G= | CA2450712998 | COL4A5 | c.3790+13G= (n.3790+13G=) c.3466+13G= (n.3466+13G=) c.1363+13G= (n.1363+13G=) c.3805+13G= (n.3805+13G=) c.2125+13G= (n.2125+13G=) | |
X | g.108668519G>T | CA2694441657 | COL4A5 | c.3790+15G>T (n.3790+15G>T) c.3466+15G>T (n.3466+15G>T) c.1363+15G>T (n.1363+15G>T) c.3805+15G>T (n.3805+15G>T) c.2125+15G>T (n.2125+15G>T) | gnomAD v4 |
X | g.108668520G>C | CA1136189507 | COL4A5 | c.3790+16G>C (n.3790+16G>C) c.3466+16G>C (n.3466+16G>C) c.1363+16G>C (n.1363+16G>C) c.3805+16G>C (n.3805+16G>C) c.2125+16G>C (n.2125+16G>C) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108668520G= | CA2450712999 | COL4A5 | c.3790+16G= (n.3790+16G=) c.3466+16G= (n.3466+16G=) c.1363+16G= (n.1363+16G=) c.3805+16G= (n.3805+16G=) c.2125+16G= (n.2125+16G=) | |
X | g.108668520G>T | CA869813452 | COL4A5 | c.3790+16G>T (n.3790+16G>T) c.3466+16G>T (n.3466+16G>T) c.1363+16G>T (n.1363+16G>T) c.3805+16G>T (n.3805+16G>T) c.2125+16G>T (n.2125+16G>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108668521del | CA2579676920 | COL4A5 | c.3790+17del (n.3790+17del) c.3466+17del (n.3466+17del) c.1363+17del (n.1363+17del) c.3805+17del (n.3805+17del) c.2125+17del (n.2125+17del) | |
X | g.108668522A= | CA2450713000 | COL4A5 | c.3790+18A= (n.3790+18A=) c.3466+18A= (n.3466+18A=) c.1363+18A= (n.1363+18A=) c.3805+18A= (n.3805+18A=) c.2125+18A= (n.2125+18A=) | |
X | g.108668522A>G | CA10489171 | COL4A5 | c.3790+18A>G (n.3790+18A>G) c.3466+18A>G (n.3466+18A>G) c.1363+18A>G (n.1363+18A>G) c.3805+18A>G (n.3805+18A>G) c.2125+18A>G (n.2125+18A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108668522A>T | CA643636688 | COL4A5 | c.3790+18A>T (n.3790+18A>T) c.3466+18A>T (n.3466+18A>T) c.1363+18A>T (n.1363+18A>T) c.3805+18A>T (n.3805+18A>T) c.2125+18A>T (n.2125+18A>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108668523G>A | CA2694441658 | COL4A5 | c.3790+19G>A (n.3790+19G>A) c.3466+19G>A (n.3466+19G>A) c.1363+19G>A (n.1363+19G>A) c.3805+19G>A (n.3805+19G>A) c.2125+19G>A (n.2125+19G>A) | gnomAD v4 |
X | g.108668524G>A | CA2694441659 | COL4A5 | c.3790+20G>A (n.3790+20G>A) c.3466+20G>A (n.3466+20G>A) c.1363+20G>A (n.1363+20G>A) c.3805+20G>A (n.3805+20G>A) c.2125+20G>A (n.2125+20G>A) | gnomAD v4 |
X | g.108668525A= | CA2450713001 | COL4A5 | c.3790+21A= (n.3790+21A=) c.3466+21A= (n.3466+21A=) c.1363+21A= (n.1363+21A=) c.3805+21A= (n.3805+21A=) c.2125+21A= (n.2125+21A=) | |
X | g.108668525A>G | CA10489172 | COL4A5 | c.3790+21A>G (n.3790+21A>G) c.3466+21A>G (n.3466+21A>G) c.1363+21A>G (n.1363+21A>G) c.3805+21A>G (n.3805+21A>G) c.2125+21A>G (n.2125+21A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108668526G>A | CA2579676921 | COL4A5 | c.3790+22G>A (n.3790+22G>A) c.3466+22G>A (n.3466+22G>A) c.1363+22G>A (n.1363+22G>A) c.3805+22G>A (n.3805+22G>A) c.2125+22G>A (n.2125+22G>A) | gnomAD v4 |
X | g.108668526G>C | CA2579676922 | COL4A5 | c.3790+22G>C (n.3790+22G>C) c.3466+22G>C (n.3466+22G>C) c.1363+22G>C (n.1363+22G>C) c.3805+22G>C (n.3805+22G>C) c.2125+22G>C (n.2125+22G>C) | |
X | g.108668527A>G | CA2694441660 | COL4A5 | c.3790+23A>G (n.3790+23A>G) c.3466+23A>G (n.3466+23A>G) c.1363+23A>G (n.1363+23A>G) c.3805+23A>G (n.3805+23A>G) c.2125+23A>G (n.2125+23A>G) | gnomAD v4 |
X | g.108668530G= | CA2450713002 | COL4A5 | c.3790+26G= (n.3790+26G=) c.3466+26G= (n.3466+26G=) c.1363+26G= (n.1363+26G=) c.3805+26G= (n.3805+26G=) c.2125+26G= (n.2125+26G=) | |
X | g.108668530G>T | CA10489173 | COL4A5 | c.3790+26G>T (n.3790+26G>T) c.3466+26G>T (n.3466+26G>T) c.1363+26G>T (n.1363+26G>T) c.3805+26G>T (n.3805+26G>T) c.2125+26G>T (n.2125+26G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108668531G>A | CA2450713004 | COL4A5 | c.3790+27G>A (n.3790+27G>A) c.3466+27G>A (n.3466+27G>A) c.1363+27G>A (n.1363+27G>A) c.3805+27G>A (n.3805+27G>A) c.2125+27G>A (n.2125+27G>A) | dbSNP |
X | g.108668531G= | CA2450713003 | COL4A5 | c.3790+27G= (n.3790+27G=) c.3466+27G= (n.3466+27G=) c.1363+27G= (n.1363+27G=) c.3805+27G= (n.3805+27G=) c.2125+27G= (n.2125+27G=) | |
X | g.108668531G>T | CA2579676923 | COL4A5 | c.3790+27G>T (n.3790+27G>T) c.3466+27G>T (n.3466+27G>T) c.1363+27G>T (n.1363+27G>T) c.3805+27G>T (n.3805+27G>T) c.2125+27G>T (n.2125+27G>T) | |
X | g.108668532T>A | CA643636689 | COL4A5 | c.3790+28T>A (n.3790+28T>A) c.3466+28T>A (n.3466+28T>A) c.1363+28T>A (n.1363+28T>A) c.3805+28T>A (n.3805+28T>A) c.2125+28T>A (n.2125+28T>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108668532T>C | CA2694441661 | COL4A5 | c.3790+28T>C (n.3790+28T>C) c.3466+28T>C (n.3466+28T>C) c.1363+28T>C (n.1363+28T>C) c.3805+28T>C (n.3805+28T>C) c.2125+28T>C (n.2125+28T>C) | gnomAD v4 |
X | g.108668532T>G | CA10489174 | COL4A5 | c.3790+28T>G (n.3790+28T>G) c.3466+28T>G (n.3466+28T>G) c.1363+28T>G (n.1363+28T>G) c.3805+28T>G (n.3805+28T>G) c.2125+28T>G (n.2125+28T>G) | dbSNP ExAC gnomAD v2 |
X | g.108668532T= | CA2450713005 | COL4A5 | c.3790+28T= (n.3790+28T=) c.3466+28T= (n.3466+28T=) c.1363+28T= (n.1363+28T=) c.3805+28T= (n.3805+28T=) c.2125+28T= (n.2125+28T=) | |
X | g.108668533C>A | CA2579676924 | COL4A5 | c.3790+29C>A (n.3790+29C>A) c.3466+29C>A (n.3466+29C>A) c.1363+29C>A (n.1363+29C>A) c.3805+29C>A (n.3805+29C>A) c.2125+29C>A (n.2125+29C>A) | gnomAD v4 |
X | g.108668533C= | CA2450713006 | COL4A5 | c.3790+29C= (n.3790+29C=) c.3466+29C= (n.3466+29C=) c.1363+29C= (n.1363+29C=) c.3805+29C= (n.3805+29C=) c.2125+29C= (n.2125+29C=) | |
X | g.108668533C>G | CA643636690 | COL4A5 | c.3790+29C>G (n.3790+29C>G) c.3466+29C>G (n.3466+29C>G) c.1363+29C>G (n.1363+29C>G) c.3805+29C>G (n.3805+29C>G) c.2125+29C>G (n.2125+29C>G) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108668533C>T | CA1136189520 | COL4A5 | c.3790+29C>T (n.3790+29C>T) c.3466+29C>T (n.3466+29C>T) c.1363+29C>T (n.1363+29C>T) c.3805+29C>T (n.3805+29C>T) c.2125+29C>T (n.2125+29C>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108668534T>A | CA2579676925 | COL4A5 | c.3790+30T>A (n.3790+30T>A) c.3466+30T>A (n.3466+30T>A) c.1363+30T>A (n.1363+30T>A) c.3805+30T>A (n.3805+30T>A) c.2125+30T>A (n.2125+30T>A) | |
X | g.108668536T>A | CA2694441662 | COL4A5 | c.3790+32T>A (n.3790+32T>A) c.3466+32T>A (n.3466+32T>A) c.1363+32T>A (n.1363+32T>A) c.3805+32T>A (n.3805+32T>A) c.2125+32T>A (n.2125+32T>A) | gnomAD v4 |
X | g.108668536_108668537insGAAAGTAAAGTA | CA2841684608 | COL4A5 | c.3790+32_3790+33insGAAAGTAAAGTA (n.3790+32_3790+33insGAAAGTAAAGTA) c.3466+32_3466+33insGAAAGTAAAGTA (n.3466+32_3466+33insGAAAGTAAAGTA) c.1363+32_1363+33insGAAAGTAAAGTA (n.1363+32_1363+33insGAAAGTAAAGTA) c.3805+32_3805+33insGAAAGTAAAGTA (n.3805+32_3805+33insGAAAGTAAAGTA) c.2125+32_2125+33insGAAAGTAAAGTA (n.2125+32_2125+33insGAAAGTAAAGTA) | |
X | g.108668538T>A | CA2694441663 | COL4A5 | c.3790+34T>A (n.3790+34T>A) c.3466+34T>A (n.3466+34T>A) c.1363+34T>A (n.1363+34T>A) c.3805+34T>A (n.3805+34T>A) c.2125+34T>A (n.2125+34T>A) | gnomAD v4 |
X | g.108668538T>C | CA2822901964 | COL4A5 | c.3790+34T>C (n.3790+34T>C) c.3466+34T>C (n.3466+34T>C) c.1363+34T>C (n.1363+34T>C) c.3805+34T>C (n.3805+34T>C) c.2125+34T>C (n.2125+34T>C) | |
X | g.108668539A>G | CA2694441664 | COL4A5 | c.3790+35A>G (n.3790+35A>G) c.3466+35A>G (n.3466+35A>G) c.1363+35A>G (n.1363+35A>G) c.3805+35A>G (n.3805+35A>G) c.2125+35A>G (n.2125+35A>G) | gnomAD v4 |
X | g.108668540T>A | CA2694441665 | COL4A5 | c.3790+36T>A (n.3790+36T>A) c.3466+36T>A (n.3466+36T>A) c.1363+36T>A (n.1363+36T>A) c.3805+36T>A (n.3805+36T>A) c.2125+36T>A (n.2125+36T>A) | gnomAD v4 |
X | g.108668541del | CA2579676926 | COL4A5 | c.3790+37del (n.3790+37del) c.3466+37del (n.3466+37del) c.1363+37del (n.1363+37del) c.3805+37del (n.3805+37del) c.2125+37del (n.2125+37del) | |
X | g.108668541T>C | CA2822901965 | COL4A5 | c.3790+37T>C (n.3790+37T>C) c.3466+37T>C (n.3466+37T>C) c.1363+37T>C (n.1363+37T>C) c.3805+37T>C (n.3805+37T>C) c.2125+37T>C (n.2125+37T>C) | |
X | g.108668543G>A | CA334047100 | COL4A5 | c.3790+39G>A (n.3790+39G>A) c.3466+39G>A (n.3466+39G>A) c.1363+39G>A (n.1363+39G>A) c.3805+39G>A (n.3805+39G>A) c.2125+39G>A (n.2125+39G>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108668543G= | CA2450713007 | COL4A5 | c.3790+39G= (n.3790+39G=) c.3466+39G= (n.3466+39G=) c.1363+39G= (n.1363+39G=) c.3805+39G= (n.3805+39G=) c.2125+39G= (n.2125+39G=) | |
X | g.108668543G>T | CA643636691 | COL4A5 | c.3790+39G>T (n.3790+39G>T) c.3466+39G>T (n.3466+39G>T) c.1363+39G>T (n.1363+39G>T) c.3805+39G>T (n.3805+39G>T) c.2125+39G>T (n.2125+39G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108668543_108668544insACCATTC | CA2694441666 | COL4A5 | c.3790+39_3790+40insACCATTC (n.3790+39_3790+40insACCATTC) c.3466+39_3466+40insACCATTC (n.3466+39_3466+40insACCATTC) c.1363+39_1363+40insACCATTC (n.1363+39_1363+40insACCATTC) c.3805+39_3805+40insACCATTC (n.3805+39_3805+40insACCATTC) c.2125+39_2125+40insACCATTC (n.2125+39_2125+40insACCATTC) | gnomAD v4 |
X | g.108668544T>A | CA2694441667 | COL4A5 | c.3790+40T>A (n.3790+40T>A) c.3466+40T>A (n.3466+40T>A) c.1363+40T>A (n.1363+40T>A) c.3805+40T>A (n.3805+40T>A) c.2125+40T>A (n.2125+40T>A) | gnomAD v4 |
X | g.108668545C>A | CA2579676927 | COL4A5 | c.3790+41C>A (n.3790+41C>A) c.3466+41C>A (n.3466+41C>A) c.1363+41C>A (n.1363+41C>A) c.3805+41C>A (n.3805+41C>A) c.2125+41C>A (n.2125+41C>A) | gnomAD v4 |
X | g.108668545C= | CA2450713008 | COL4A5 | c.3790+41C= (n.3790+41C=) c.3466+41C= (n.3466+41C=) c.1363+41C= (n.1363+41C=) c.3805+41C= (n.3805+41C=) c.2125+41C= (n.2125+41C=) | |
X | g.108668545C>T | CA1136189531 | COL4A5 | c.3790+41C>T (n.3790+41C>T) c.3466+41C>T (n.3466+41C>T) c.1363+41C>T (n.1363+41C>T) c.3805+41C>T (n.3805+41C>T) c.2125+41C>T (n.2125+41C>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108668546C>A | CA2579676928 | COL4A5 | c.3790+42C>A (n.3790+42C>A) c.3466+42C>A (n.3466+42C>A) c.1363+42C>A (n.1363+42C>A) c.3805+42C>A (n.3805+42C>A) c.2125+42C>A (n.2125+42C>A) | gnomAD v4 |
X | g.108668546C>T | CA2694441668 | COL4A5 | c.3790+42C>T (n.3790+42C>T) c.3466+42C>T (n.3466+42C>T) c.1363+42C>T (n.1363+42C>T) c.3805+42C>T (n.3805+42C>T) c.2125+42C>T (n.2125+42C>T) | gnomAD v4 |
X | g.108668546_108668547delinsCA | CA2450713009 | COL4A5 | c.3790+42_3790+43delinsCA (n.3790+42_3790+43delinsCA) c.3466+42_3466+43delinsCA (n.3466+42_3466+43delinsCA) c.1363+42_1363+43delinsCA (n.1363+42_1363+43delinsCA) c.3805+42_3805+43delinsCA (n.3805+42_3805+43delinsCA) c.2125+42_2125+43delinsCA (n.2125+42_2125+43delinsCA) | |
X | g.108668547del | CA10489175 | COL4A5 | c.3790+43del (n.3790+43del) c.3466+43del (n.3466+43del) c.1363+43del (n.1363+43del) c.3805+43del (n.3805+43del) c.2125+43del (n.2125+43del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108668547A= | CA2450713010 | COL4A5 | c.3790+43A= (n.3790+43A=) c.3466+43A= (n.3466+43A=) c.1363+43A= (n.1363+43A=) c.3805+43A= (n.3805+43A=) c.2125+43A= (n.2125+43A=) | |
X | g.108668547A>G | CA10489176 | COL4A5 | c.3790+43A>G (n.3790+43A>G) c.3466+43A>G (n.3466+43A>G) c.1363+43A>G (n.1363+43A>G) c.3805+43A>G (n.3805+43A>G) c.2125+43A>G (n.2125+43A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108668548T>A | CA643636692 | COL4A5 | c.3790+44T>A (n.3790+44T>A) c.3466+44T>A (n.3466+44T>A) c.1363+44T>A (n.1363+44T>A) c.3805+44T>A (n.3805+44T>A) c.2125+44T>A (n.2125+44T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108668548T>C | CA10489177 | COL4A5 | c.3790+44T>C (n.3790+44T>C) c.3466+44T>C (n.3466+44T>C) c.1363+44T>C (n.1363+44T>C) c.3805+44T>C (n.3805+44T>C) c.2125+44T>C (n.2125+44T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108668548T= | CA2450713011 | COL4A5 | c.3790+44T= (n.3790+44T=) c.3466+44T= (n.3466+44T=) c.1363+44T= (n.1363+44T=) c.3805+44T= (n.3805+44T=) c.2125+44T= (n.2125+44T=) | |
X | g.108668549_108668553del | CA2694441669 | COL4A5 | c.3790+45_3790+49del (n.3790+45_3790+49del) c.3466+45_3466+49del (n.3466+45_3466+49del) c.1363+45_1363+49del (n.1363+45_1363+49del) c.3805+45_3805+49del (n.3805+45_3805+49del) c.2125+45_2125+49del (n.2125+45_2125+49del) | gnomAD v4 |
X | g.108668549del | CA2694441670 | COL4A5 | c.3790+45del (n.3790+45del) c.3466+45del (n.3466+45del) c.1363+45del (n.1363+45del) c.3805+45del (n.3805+45del) c.2125+45del (n.2125+45del) | gnomAD v4 |
X | g.108668549G>A | CA2694441671 | COL4A5 | c.3790+45G>A (n.3790+45G>A) c.3466+45G>A (n.3466+45G>A) c.1363+45G>A (n.1363+45G>A) c.3805+45G>A (n.3805+45G>A) c.2125+45G>A (n.2125+45G>A) | gnomAD v4 |
X | g.108668550T>C | CA10489178 | COL4A5 | c.3790+46T>C (n.3790+46T>C) c.3466+46T>C (n.3466+46T>C) c.1363+46T>C (n.1363+46T>C) c.3805+46T>C (n.3805+46T>C) c.2125+46T>C (n.2125+46T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108668550T>G | CA2694441672 | COL4A5 | c.3790+46T>G (n.3790+46T>G) c.3466+46T>G (n.3466+46T>G) c.1363+46T>G (n.1363+46T>G) c.3805+46T>G (n.3805+46T>G) c.2125+46T>G (n.2125+46T>G) | gnomAD v4 |
X | g.108668550T= | CA2450713012 | COL4A5 | c.3790+46T= (n.3790+46T=) c.3466+46T= (n.3466+46T=) c.1363+46T= (n.1363+46T=) c.3805+46T= (n.3805+46T=) c.2125+46T= (n.2125+46T=) | |
X | g.108668551A>C | CA2694441673 | COL4A5 | c.3790+47A>C (n.3790+47A>C) c.3466+47A>C (n.3466+47A>C) c.1363+47A>C (n.1363+47A>C) c.3805+47A>C (n.3805+47A>C) c.2125+47A>C (n.2125+47A>C) | gnomAD v4 |
X | g.108668554T>C | CA334047158 | COL4A5 | c.3790+50T>C (n.3790+50T>C) c.3466+50T>C (n.3466+50T>C) c.1363+50T>C (n.1363+50T>C) c.3805+50T>C (n.3805+50T>C) c.2125+50T>C (n.2125+50T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108668554T= | CA2450713013 | COL4A5 | c.3790+50T= (n.3790+50T=) c.3466+50T= (n.3466+50T=) c.1363+50T= (n.1363+50T=) c.3805+50T= (n.3805+50T=) c.2125+50T= (n.2125+50T=) | |
X | g.108668555C>A | CA2579676929 | COL4A5 | c.3790+51C>A (n.3790+51C>A) c.3466+51C>A (n.3466+51C>A) c.1363+51C>A (n.1363+51C>A) c.3805+51C>A (n.3805+51C>A) c.2125+51C>A (n.2125+51C>A) | |
X | g.108668555C= | CA2450713014 | COL4A5 | c.3790+51C= (n.3790+51C=) c.3466+51C= (n.3466+51C=) c.1363+51C= (n.1363+51C=) c.3805+51C= (n.3805+51C=) c.2125+51C= (n.2125+51C=) | |
X | g.108668555C>T | CA869813464 | COL4A5 | c.3790+51C>T (n.3790+51C>T) c.3466+51C>T (n.3466+51C>T) c.1363+51C>T (n.1363+51C>T) c.3805+51C>T (n.3805+51C>T) c.2125+51C>T (n.2125+51C>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108668556G>A | CA869813469 | COL4A5 | c.3790+52G>A (n.3790+52G>A) c.3466+52G>A (n.3466+52G>A) c.1363+52G>A (n.1363+52G>A) c.3805+52G>A (n.3805+52G>A) c.2125+52G>A (n.2125+52G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108668556G= | CA2450713015 | COL4A5 | c.3790+52G= (n.3790+52G=) c.3466+52G= (n.3466+52G=) c.1363+52G= (n.1363+52G=) c.3805+52G= (n.3805+52G=) c.2125+52G= (n.2125+52G=) | |
X | g.108668556G>T | CA643636693 | COL4A5 | c.3790+52G>T (n.3790+52G>T) c.3466+52G>T (n.3466+52G>T) c.1363+52G>T (n.1363+52G>T) c.3805+52G>T (n.3805+52G>T) c.2125+52G>T (n.2125+52G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108668558T>C | CA2450713017 | COL4A5 | c.3790+54T>C (n.3790+54T>C) c.3466+54T>C (n.3466+54T>C) c.1363+54T>C (n.1363+54T>C) c.3805+54T>C (n.3805+54T>C) c.2125+54T>C (n.2125+54T>C) | dbSNP gnomAD v4 |
X | g.108668558T= | CA2450713016 | COL4A5 | c.3790+54T= (n.3790+54T=) c.3466+54T= (n.3466+54T=) c.1363+54T= (n.1363+54T=) c.3805+54T= (n.3805+54T=) c.2125+54T= (n.2125+54T=) | |
X | g.108668561G>T | CA2694441674 | COL4A5 | c.3790+57G>T (n.3790+57G>T) c.3466+57G>T (n.3466+57G>T) c.1363+57G>T (n.1363+57G>T) c.3805+57G>T (n.3805+57G>T) c.2125+57G>T (n.2125+57G>T) | gnomAD v4 |
X | g.108668562C>A | CA2694441675 | COL4A5 | c.3790+58C>A (n.3790+58C>A) c.3466+58C>A (n.3466+58C>A) c.1363+58C>A (n.1363+58C>A) c.3805+58C>A (n.3805+58C>A) c.2125+58C>A (n.2125+58C>A) | gnomAD v4 |
X | g.108668562C>T | CA2579676930 | COL4A5 | c.3790+58C>T (n.3790+58C>T) c.3466+58C>T (n.3466+58C>T) c.1363+58C>T (n.1363+58C>T) c.3805+58C>T (n.3805+58C>T) c.2125+58C>T (n.2125+58C>T) | gnomAD v4 |
X | g.108668563T>C | CA2694441676 | COL4A5 | c.3790+59T>C (n.3790+59T>C) c.3466+59T>C (n.3466+59T>C) c.1363+59T>C (n.1363+59T>C) c.3805+59T>C (n.3805+59T>C) c.2125+59T>C (n.2125+59T>C) | gnomAD v4 |
X | g.108668565G>A | CA1136189548 | COL4A5 | c.3790+61G>A (n.3790+61G>A) c.3466+61G>A (n.3466+61G>A) c.1363+61G>A (n.1363+61G>A) c.3805+61G>A (n.3805+61G>A) c.2125+61G>A (n.2125+61G>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108668565G= | CA2450713018 | COL4A5 | c.3790+61G= (n.3790+61G=) c.3466+61G= (n.3466+61G=) c.1363+61G= (n.1363+61G=) c.3805+61G= (n.3805+61G=) c.2125+61G= (n.2125+61G=) | |
X | g.108668565G>T | CA2694441677 | COL4A5 | c.3790+61G>T (n.3790+61G>T) c.3466+61G>T (n.3466+61G>T) c.1363+61G>T (n.1363+61G>T) c.3805+61G>T (n.3805+61G>T) c.2125+61G>T (n.2125+61G>T) | gnomAD v4 |
X | g.108668566C>A | CA2694441678 | COL4A5 | c.3790+62C>A (n.3790+62C>A) c.3466+62C>A (n.3466+62C>A) c.1363+62C>A (n.1363+62C>A) c.3805+62C>A (n.3805+62C>A) c.2125+62C>A (n.2125+62C>A) | gnomAD v4 |