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.108668416G>A | CA517922691 | COL4A5 | c.3702G>A (p.Gln1234=) c.3378G>A (p.Gln1126=) c.1275G>A (p.Gln425=) c.3717G>A (p.Gln1239=) c.2037G>A (p.Gln679=) | |
X | g.108668416G>C | CA413848826 | COL4A5 | c.3702G>C (p.Gln1234His) c.3378G>C (p.Gln1126His) c.1275G>C (p.Gln425His) c.3717G>C (p.Gln1239His) c.2037G>C (p.Gln679His) | |
X | g.108668416G>T | CA413848824 | COL4A5 | c.3702G>T (p.Gln1234His) c.3378G>T (p.Gln1126His) c.1275G>T (p.Gln425His) c.3717G>T (p.Gln1239His) c.2037G>T (p.Gln679His) | |
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.108668417G>A | CA413848829 | COL4A5 | c.3703G>A (p.Gly1235Ser) c.3379G>A (p.Gly1127Ser) c.1276G>A (p.Gly426Ser) c.3718G>A (p.Gly1240Ser) c.2038G>A (p.Gly680Ser) | |
X | g.108668417G>C | CA413848832 | COL4A5 | c.3703G>C (p.Gly1235Arg) c.3379G>C (p.Gly1127Arg) c.1276G>C (p.Gly426Arg) c.3718G>C (p.Gly1240Arg) c.2038G>C (p.Gly680Arg) | |
X | g.108668417G>T | CA413848834 | COL4A5 | c.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 |
X | g.108668418G>A | CA413848838 | COL4A5 | c.3704G>A (p.Gly1235Asp) c.3380G>A (p.Gly1127Asp) c.1277G>A (p.Gly426Asp) c.3719G>A (p.Gly1240Asp) c.2039G>A (p.Gly680Asp) | |
X | g.108668418G>C | CA413848840 | COL4A5 | c.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 |
X | g.108668418G= | CA2450712955 | COL4A5 | c.3704G= (p.Gly1235=) c.3380G= (p.Gly1127=) c.1277G= (p.Gly426=) c.3719G= (p.Gly1240=) c.2039G= (p.Gly680=) | |
X | g.108668418G>T | CA413848843 | COL4A5 | c.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 |
X | g.108668419T>A | CA517922692 | COL4A5 | c.3705T>A (p.Gly1235=) c.3381T>A (p.Gly1127=) c.1278T>A (p.Gly426=) c.3720T>A (p.Gly1240=) c.2040T>A (p.Gly680=) | |
X | g.108668419T>C | CA517922693 | COL4A5 | c.3705T>C (p.Gly1235=) c.3381T>C (p.Gly1127=) c.1278T>C (p.Gly426=) c.3720T>C (p.Gly1240=) c.2040T>C (p.Gly680=) | |
X | g.108668419T>G | CA517922694 | COL4A5 | c.3705T>G (p.Gly1235=) c.3381T>G (p.Gly1127=) c.1278T>G (p.Gly426=) c.3720T>G (p.Gly1240=) c.2040T>G (p.Gly680=) | |
X | g.108668419T= | CA2450712956 | COL4A5 | c.3705T= (p.Gly1235=) c.3381T= (p.Gly1127=) c.1278T= (p.Gly426=) c.3720T= (p.Gly1240=) c.2040T= (p.Gly680=) | |
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.108668420C>A | CA413848856 | COL4A5 | c.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 |
X | g.108668420C= | CA2450712959 | COL4A5 | c.3706C= (p.Pro1236=) c.3382C= (p.Pro1128=) c.1279C= (p.Pro427=) c.3721C= (p.Pro1241=) c.2041C= (p.Pro681=) | |
X | g.108668420C>G | CA413848855 | COL4A5 | c.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 |
X | g.108668420C>T | CA413848852 | COL4A5 | c.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 |
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.108668421C>A | CA413848859 | COL4A5 | c.3707C>A (p.Pro1236His) c.3383C>A (p.Pro1128His) c.1280C>A (p.Pro427His) c.3722C>A (p.Pro1241His) c.2042C>A (p.Pro681His) | |
X | g.108668421C>G | CA413848862 | COL4A5 | c.3707C>G (p.Pro1236Arg) c.3383C>G (p.Pro1128Arg) c.1280C>G (p.Pro427Arg) c.3722C>G (p.Pro1241Arg) c.2042C>G (p.Pro681Arg) | |
X | g.108668421C>T | CA413848865 | COL4A5 | c.3707C>T (p.Pro1236Leu) c.3383C>T (p.Pro1128Leu) c.1280C>T (p.Pro427Leu) c.3722C>T (p.Pro1241Leu) c.2042C>T (p.Pro681Leu) | |
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.108668422C>A | CA517922695 | COL4A5 | c.3708C>A (p.Pro1236=) c.3384C>A (p.Pro1128=) c.1281C>A (p.Pro427=) c.3723C>A (p.Pro1241=) c.2043C>A (p.Pro681=) | |
X | g.108668422C>G | CA517922696 | COL4A5 | c.3708C>G (p.Pro1236=) c.3384C>G (p.Pro1128=) c.1281C>G (p.Pro427=) c.3723C>G (p.Pro1241=) c.2043C>G (p.Pro681=) | |
X | g.108668422C>T | CA517922697 | COL4A5 | c.3708C>T (p.Pro1236=) c.3384C>T (p.Pro1128=) c.1281C>T (p.Pro427=) c.3723C>T (p.Pro1241=) c.2043C>T (p.Pro681=) | |
X | g.108668423C>A | CA413848870 | COL4A5 | c.3709C>A (p.Pro1237Thr) c.3385C>A (p.Pro1129Thr) c.1282C>A (p.Pro428Thr) c.3724C>A (p.Pro1242Thr) c.2044C>A (p.Pro682Thr) | |
X | g.108668423C>G | CA413848869 | COL4A5 | c.3709C>G (p.Pro1237Ala) c.3385C>G (p.Pro1129Ala) c.1282C>G (p.Pro428Ala) c.3724C>G (p.Pro1242Ala) c.2044C>G (p.Pro682Ala) | |
X | g.108668423C>T | CA413848872 | COL4A5 | c.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 |
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) |