| 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.108668367_108668439delinsTTCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTC | CA2450712935 | COL4A5 | c.3653_3725delinsTTCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTC (p.Leu1218=) c.3329_3401delinsTTCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTC (p.Leu1110=) c.1226_1298delinsTTCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTC (p.Leu409=) c.3668_3740delinsTTCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTC (p.Leu1223=) c.1988_2060delinsTTCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTC (p.Leu663=) | |
| X | g.108668371_108668442del | CA258920 | COL4A5 | c.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 |
| X | g.108668422_108668448del | CA2695235655 | COL4A5 | c.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) | |
| X | g.108668419_108668436delinsTCCCCCAGGCCCTCCTGG | CA2450712957 | COL4A5 | c.3705_3722delinsTCCCCCAGGCCCTCCTGG (p.Gly1235=) c.3381_3398delinsTCCCCCAGGCCCTCCTGG (p.Gly1127=) c.1278_1295delinsTCCCCCAGGCCCTCCTGG (p.Gly426=) c.3720_3737delinsTCCCCCAGGCCCTCCTGG (p.Gly1240=) c.2040_2057delinsTCCCCCAGGCCCTCCTGG (p.Gly680=) | |
| X | g.108668423_108668424dup | CA258941 | COL4A5 | c.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 |
| X | g.108668424del | CA2695235656 | COL4A5 | c.3710del (p.Pro1237GlnfsTer?) c.3386del (p.Pro1129GlnfsTer?) c.1283del (p.Pro428GlnfsTer?) c.3725del (p.Pro1242GlnfsTer?) c.2045del (p.Pro682GlnfsTer?) | |
| X | g.108668420_108668433del | CA2573159109 | COL4A5 | c.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 |
| X | g.108668420_108668436delinsT | CA258939 | COL4A5 | c.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 |
| X | g.108668420_108668436delinsTT | CA2695235657 | COL4A5 | c.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) | |
| 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.108668424C>A | CA413848875 | COL4A5 | c.3710C>A (p.Pro1237Gln) c.3386C>A (p.Pro1129Gln) c.1283C>A (p.Pro428Gln) c.3725C>A (p.Pro1242Gln) c.2045C>A (p.Pro682Gln) | |
| X | g.108668424C>G | CA413848878 | COL4A5 | c.3710C>G (p.Pro1237Arg) c.3386C>G (p.Pro1129Arg) c.1283C>G (p.Pro428Arg) c.3725C>G (p.Pro1242Arg) c.2045C>G (p.Pro682Arg) | |
| X | g.108668424C>T | CA413848879 | COL4A5 | c.3710C>T (p.Pro1237Leu) c.3386C>T (p.Pro1129Leu) c.1283C>T (p.Pro428Leu) c.3725C>T (p.Pro1242Leu) c.2045C>T (p.Pro682Leu) | |
| X | g.108668425A>C | CA517922698 | COL4A5 | c.3711A>C (p.Pro1237=) c.3387A>C (p.Pro1129=) c.1284A>C (p.Pro428=) c.3726A>C (p.Pro1242=) c.2046A>C (p.Pro682=) | |
| X | g.108668425A>G | CA517922700 | COL4A5 | c.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 |
| X | g.108668425A>T | CA517922699 | COL4A5 | c.3711A>T (p.Pro1237=) c.3387A>T (p.Pro1129=) c.1284A>T (p.Pro428=) c.3726A>T (p.Pro1242=) c.2046A>T (p.Pro682=) | |
| X | g.108668426G>A | CA413848883 | COL4A5 | c.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 |
| X | g.108668426G>C | CA413848886 | COL4A5 | c.3712G>C (p.Gly1238Arg) c.3388G>C (p.Gly1130Arg) c.1285G>C (p.Gly429Arg) c.3727G>C (p.Gly1243Arg) c.2047G>C (p.Gly683Arg) | |
| X | g.108668426G>T | CA413848888 | COL4A5 | c.3712G>T (p.Gly1238Cys) c.3388G>T (p.Gly1130Cys) c.1285G>T (p.Gly429Cys) c.3727G>T (p.Gly1243Cys) c.2047G>T (p.Gly683Cys) | |
| X | g.108668427G>A | CA413848893 | COL4A5 | c.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 |
| X | g.108668427G>C | CA413848895 | COL4A5 | c.3713G>C (p.Gly1238Ala) c.3389G>C (p.Gly1130Ala) c.1286G>C (p.Gly429Ala) c.3728G>C (p.Gly1243Ala) c.2048G>C (p.Gly683Ala) | |
| X | g.108668427G>T | CA413848897 | COL4A5 | c.3713G>T (p.Gly1238Val) c.3389G>T (p.Gly1130Val) c.1286G>T (p.Gly429Val) c.3728G>T (p.Gly1243Val) c.2048G>T (p.Gly683Val) | |
| X | g.108668428C>A | CA517922701 | COL4A5 | c.3714C>A (p.Gly1238=) c.3390C>A (p.Gly1130=) c.1287C>A (p.Gly429=) c.3729C>A (p.Gly1243=) c.2049C>A (p.Gly683=) | |
| X | g.108668428C>G | CA517922702 | COL4A5 | c.3714C>G (p.Gly1238=) c.3390C>G (p.Gly1130=) c.1287C>G (p.Gly429=) c.3729C>G (p.Gly1243=) c.2049C>G (p.Gly683=) | |
| X | g.108668428C>T | CA517922703 | COL4A5 | c.3714C>T (p.Gly1238=) c.3390C>T (p.Gly1130=) c.1287C>T (p.Gly429=) c.3729C>T (p.Gly1243=) c.2049C>T (p.Gly683=) | |
| X | g.108668429C>A | CA413848901 | COL4A5 | c.3715C>A (p.Pro1239Thr) c.3391C>A (p.Pro1131Thr) c.1288C>A (p.Pro430Thr) c.3730C>A (p.Pro1244Thr) c.2050C>A (p.Pro684Thr) | |
| X | g.108668429C>G | CA413848903 | COL4A5 | c.3715C>G (p.Pro1239Ala) c.3391C>G (p.Pro1131Ala) c.1288C>G (p.Pro430Ala) c.3730C>G (p.Pro1244Ala) c.2050C>G (p.Pro684Ala) | |
| X | g.108668429C>T | CA413848906 | COL4A5 | c.3715C>T (p.Pro1239Ser) c.3391C>T (p.Pro1131Ser) c.1288C>T (p.Pro430Ser) c.3730C>T (p.Pro1244Ser) c.2050C>T (p.Pro684Ser) | |
| X | g.108668430C>A | CA413848913 | COL4A5 | c.3716C>A (p.Pro1239His) c.3392C>A (p.Pro1131His) c.1289C>A (p.Pro430His) c.3731C>A (p.Pro1244His) c.2051C>A (p.Pro684His) | |
| X | g.108668430C= | CA2450712960 | COL4A5 | c.3716C= (p.Pro1239=) c.3392C= (p.Pro1131=) c.1289C= (p.Pro430=) c.3731C= (p.Pro1244=) c.2051C= (p.Pro684=) | |
| X | g.108668430C>G | CA413848909 | COL4A5 | c.3716C>G (p.Pro1239Arg) c.3392C>G (p.Pro1131Arg) c.1289C>G (p.Pro430Arg) c.3731C>G (p.Pro1244Arg) c.2051C>G (p.Pro684Arg) | |
| X | g.108668430C>T | CA10489159 | COL4A5 | c.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 |
| X | g.108668431T>A | CA517922704 | COL4A5 | c.3717T>A (p.Pro1239=) c.3393T>A (p.Pro1131=) c.1290T>A (p.Pro430=) c.3732T>A (p.Pro1244=) c.2052T>A (p.Pro684=) | |
| X | g.108668431T>C | CA517922706 | COL4A5 | c.3717T>C (p.Pro1239=) c.3393T>C (p.Pro1131=) c.1290T>C (p.Pro430=) c.3732T>C (p.Pro1244=) c.2052T>C (p.Pro684=) | |
| X | g.108668431T>G | CA517922705 | COL4A5 | c.3717T>G (p.Pro1239=) c.3393T>G (p.Pro1131=) c.1290T>G (p.Pro430=) c.3732T>G (p.Pro1244=) c.2052T>G (p.Pro684=) | |
| X | g.108668431_108668435dup | CA2695235658 | COL4A5 | c.3717_3721dup (p.Gly1241ValfsTer?) c.3393_3397dup (p.Gly1133ValfsTer?) c.1290_1294dup (p.Gly432ValfsTer?) c.3732_3736dup (p.Gly1246ValfsTer?) c.2052_2056dup (p.Gly686ValfsTer?) | |
| X | g.108668432C>A | CA413848916 | COL4A5 | c.3718C>A (p.Pro1240Thr) c.3394C>A (p.Pro1132Thr) c.1291C>A (p.Pro431Thr) c.3733C>A (p.Pro1245Thr) c.2053C>A (p.Pro685Thr) | |
| X | g.108668432C= | CA2450712961 | COL4A5 | c.3718C= (p.Pro1240=) c.3394C= (p.Pro1132=) c.1291C= (p.Pro431=) c.3733C= (p.Pro1245=) c.2053C= (p.Pro685=) | |
| X | g.108668432C>G | CA413848918 | COL4A5 | c.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 |
| X | g.108668432C>T | CA413848919 | COL4A5 | c.3718C>T (p.Pro1240Ser) c.3394C>T (p.Pro1132Ser) c.1291C>T (p.Pro431Ser) c.3733C>T (p.Pro1245Ser) c.2053C>T (p.Pro685Ser) | |
| X | g.108668433C>A | CA413848920 | COL4A5 | c.3719C>A (p.Pro1240His) c.3395C>A (p.Pro1132His) c.1292C>A (p.Pro431His) c.3734C>A (p.Pro1245His) c.2054C>A (p.Pro685His) | |
| X | g.108668433C>G | CA413848921 | COL4A5 | c.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 |
| X | g.108668433C>T | CA413848922 | COL4A5 | c.3719C>T (p.Pro1240Leu) c.3395C>T (p.Pro1132Leu) c.1292C>T (p.Pro431Leu) c.3734C>T (p.Pro1245Leu) c.2054C>T (p.Pro685Leu) | |
| X | g.108668434T>A | CA517922707 | COL4A5 | c.3720T>A (p.Pro1240=) c.3396T>A (p.Pro1132=) c.1293T>A (p.Pro431=) c.3735T>A (p.Pro1245=) c.2055T>A (p.Pro685=) | |
| X | g.108668434T>C | CA517922708 | COL4A5 | c.3720T>C (p.Pro1240=) c.3396T>C (p.Pro1132=) c.1293T>C (p.Pro431=) c.3735T>C (p.Pro1245=) c.2055T>C (p.Pro685=) | |
| X | g.108668434T>G | CA517922709 | COL4A5 | c.3720T>G (p.Pro1240=) c.3396T>G (p.Pro1132=) c.1293T>G (p.Pro431=) c.3735T>G (p.Pro1245=) c.2055T>G (p.Pro685=) | |
| X | g.108668435G>A | CA413848924 | COL4A5 | c.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 |
| X | g.108668435G>C | CA413848926 | COL4A5 | c.3721G>C (p.Gly1241Arg) c.3397G>C (p.Gly1133Arg) c.1294G>C (p.Gly432Arg) c.3736G>C (p.Gly1246Arg) c.2056G>C (p.Gly686Arg) |