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.108668414C>A | CA413848809 | COL4A5 | c.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 |
X | g.108668414C= | CA2450712954 | COL4A5 | c.3700C= (p.Gln1234=) c.3376C= (p.Gln1126=) c.1273C= (p.Gln425=) c.3715C= (p.Gln1239=) c.2035C= (p.Gln679=) | |
X | g.108668414C>G | CA413848811 | COL4A5 | c.3700C>G (p.Gln1234Glu) c.3376C>G (p.Gln1126Glu) c.1273C>G (p.Gln425Glu) c.3715C>G (p.Gln1239Glu) c.2035C>G (p.Gln679Glu) | |
X | g.108668414C>T | CA258935 | COL4A5 | c.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 |
X | g.108668415A>C | CA413848816 | COL4A5 | c.3701A>C (p.Gln1234Pro) c.3377A>C (p.Gln1126Pro) c.1274A>C (p.Gln425Pro) c.3716A>C (p.Gln1239Pro) c.2036A>C (p.Gln679Pro) | |
X | g.108668415A>G | CA413848818 | COL4A5 | c.3701A>G (p.Gln1234Arg) c.3377A>G (p.Gln1126Arg) c.1274A>G (p.Gln425Arg) c.3716A>G (p.Gln1239Arg) c.2036A>G (p.Gln679Arg) | |
X | g.108668415A>T | CA413848820 | COL4A5 | c.3701A>T (p.Gln1234Leu) c.3377A>T (p.Gln1126Leu) c.1274A>T (p.Gln425Leu) c.3716A>T (p.Gln1239Leu) c.2036A>T (p.Gln679Leu) | |
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) | |
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) | |
X | g.108668435G= | CA2450712962 | COL4A5 | c.3721G= (p.Gly1241=) c.3397G= (p.Gly1133=) c.1294G= (p.Gly432=) c.3736G= (p.Gly1246=) c.2056G= (p.Gly686=) | |
X | g.108668435G>T | CA258942 | COL4A5 | c.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 |
X | g.108668436del | CA2695235659 | COL4A5 | c.3722del (p.Gly1241ValfsTer?) c.3398del (p.Gly1133ValfsTer?) c.1295del (p.Gly432ValfsTer?) c.3737del (p.Gly1246ValfsTer?) c.2057del (p.Gly686ValfsTer?) | |
X | g.108668436G>A | CA413848929 | COL4A5 | c.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 |
X | g.108668436G>C | CA413848931 | COL4A5 | c.3722G>C (p.Gly1241Ala) c.3398G>C (p.Gly1133Ala) c.1295G>C (p.Gly432Ala) c.3737G>C (p.Gly1246Ala) c.2057G>C (p.Gly686Ala) | |
X | g.108668436G= | CA2450712963 | COL4A5 | c.3722G= (p.Gly1241=) c.3398G= (p.Gly1133=) c.1295G= (p.Gly432=) c.3737G= (p.Gly1246=) c.2057G= (p.Gly686=) | |
X | g.108668436G>T | CA258944 | COL4A5 | c.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 |
X | g.108668437T>A | CA517922710 | COL4A5 | c.3723T>A (p.Gly1241=) c.3399T>A (p.Gly1133=) c.1296T>A (p.Gly432=) c.3738T>A (p.Gly1246=) c.2058T>A (p.Gly686=) | |
X | g.108668437T>C | CA517922711 | COL4A5 | c.3723T>C (p.Gly1241=) c.3399T>C (p.Gly1133=) c.1296T>C (p.Gly432=) c.3738T>C (p.Gly1246=) c.2058T>C (p.Gly686=) | |
X | g.108668437T>G | CA517922712 | COL4A5 | c.3723T>G (p.Gly1241=) c.3399T>G (p.Gly1133=) c.1296T>G (p.Gly432=) c.3738T>G (p.Gly1246=) c.2058T>G (p.Gly686=) | |
X | g.108668438T>A | CA413848935 | COL4A5 | c.3724T>A (p.Ser1242Thr) c.3400T>A (p.Ser1134Thr) c.1297T>A (p.Ser433Thr) c.3739T>A (p.Ser1247Thr) c.2059T>A (p.Ser687Thr) | |
X | g.108668438T>C | CA413848939 | COL4A5 | c.3724T>C (p.Ser1242Pro) c.3400T>C (p.Ser1134Pro) c.1297T>C (p.Ser433Pro) c.3739T>C (p.Ser1247Pro) c.2059T>C (p.Ser687Pro) | |
X | g.108668438T>G | CA413848936 | COL4A5 | c.3724T>G (p.Ser1242Ala) c.3400T>G (p.Ser1134Ala) c.1297T>G (p.Ser433Ala) c.3739T>G (p.Ser1247Ala) c.2059T>G (p.Ser687Ala) | |
X | g.108668439C>A | CA413848941 | COL4A5 | c.3725C>A (p.Ser1242Tyr) c.3401C>A (p.Ser1134Tyr) c.1298C>A (p.Ser433Tyr) c.3740C>A (p.Ser1247Tyr) c.2060C>A (p.Ser687Tyr) | |
X | g.108668439C= | CA2450712964 | COL4A5 | c.3725C= (p.Ser1242=) c.3401C= (p.Ser1134=) c.1298C= (p.Ser433=) c.3740C= (p.Ser1247=) c.2060C= (p.Ser687=) | |
X | g.108668439C>G | CA413848943 | COL4A5 | c.3725C>G (p.Ser1242Cys) c.3401C>G (p.Ser1134Cys) c.1298C>G (p.Ser433Cys) c.3740C>G (p.Ser1247Cys) c.2060C>G (p.Ser687Cys) | |
X | g.108668439C>T | CA10489160 | COL4A5 | c.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 |
X | g.108668440T>A | CA517922713 | COL4A5 | c.3726T>A (p.Ser1242=) c.3402T>A (p.Ser1134=) c.1299T>A (p.Ser433=) c.3741T>A (p.Ser1247=) c.2061T>A (p.Ser687=) | |
X | g.108668440T>C | CA517922714 | COL4A5 | c.3726T>C (p.Ser1242=) c.3402T>C (p.Ser1134=) c.1299T>C (p.Ser433=) c.3741T>C (p.Ser1247=) c.2061T>C (p.Ser687=) | |
X | g.108668440T>G | CA517922715 | COL4A5 | c.3726T>G (p.Ser1242=) c.3402T>G (p.Ser1134=) c.1299T>G (p.Ser433=) c.3741T>G (p.Ser1247=) c.2061T>G (p.Ser687=) | |
X | g.108668441C>A | CA413848946 | COL4A5 | c.3727C>A (p.Pro1243Thr) c.3403C>A (p.Pro1135Thr) c.1300C>A (p.Pro434Thr) c.3742C>A (p.Pro1248Thr) c.2062C>A (p.Pro688Thr) | |
X | g.108668441C= | CA2450712965 | COL4A5 | c.3727C= (p.Pro1243=) c.3403C= (p.Pro1135=) c.1300C= (p.Pro434=) c.3742C= (p.Pro1248=) c.2062C= (p.Pro688=) | |
X | g.108668441C>G | CA413848947 | COL4A5 | c.3727C>G (p.Pro1243Ala) c.3403C>G (p.Pro1135Ala) c.1300C>G (p.Pro434Ala) c.3742C>G (p.Pro1248Ala) c.2062C>G (p.Pro688Ala) | |
X | g.108668441C>T | CA334046887 | COL4A5 | c.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 |
X | g.108668442C>A | CA413848951 | COL4A5 | c.3728C>A (p.Pro1243Gln) c.3404C>A (p.Pro1135Gln) c.1301C>A (p.Pro434Gln) c.3743C>A (p.Pro1248Gln) c.2063C>A (p.Pro688Gln) | |
X | g.108668442C= | CA2450712966 | COL4A5 | c.3728C= (p.Pro1243=) c.3404C= (p.Pro1135=) c.1301C= (p.Pro434=) c.3743C= (p.Pro1248=) c.2063C= (p.Pro688=) | |
X | g.108668442C>G | CA413848950 | COL4A5 | c.3728C>G (p.Pro1243Arg) c.3404C>G (p.Pro1135Arg) c.1301C>G (p.Pro434Arg) c.3743C>G (p.Pro1248Arg) c.2063C>G (p.Pro688Arg) | |
X | g.108668442C>T | CA10489161 | COL4A5 | c.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 |
X | g.108668443G>A | CA517922716 | COL4A5 | c.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 |
X | g.108668443G>C | CA517922718 | COL4A5 | c.3729G>C (p.Pro1243=) c.3405G>C (p.Pro1135=) c.1302G>C (p.Pro434=) c.3744G>C (p.Pro1248=) c.2064G>C (p.Pro688=) | |
X | g.108668443G>T | CA517922717 | COL4A5 | c.3729G>T (p.Pro1243=) c.3405G>T (p.Pro1135=) c.1302G>T (p.Pro434=) c.3744G>T (p.Pro1248=) c.2064G>T (p.Pro688=) | |
X | g.108668445del | CA2694441655 | COL4A5 | c.3731del (p.Gly1244ValfsTer?) c.3407del (p.Gly1136ValfsTer?) c.1304del (p.Gly435ValfsTer?) c.3746del (p.Gly1249ValfsTer?) c.2066del (p.Gly689ValfsTer?) | gnomAD v4 |
X | g.108668444G>A | CA334046899 | COL4A5 | c.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 |
X | g.108668444G>C | CA413848954 | COL4A5 | c.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 |
X | g.108668444G= | CA2450712967 | COL4A5 | c.3730G= (p.Gly1244=) c.3406G= (p.Gly1136=) c.1303G= (p.Gly435=) c.3745G= (p.Gly1249=) c.2065G= (p.Gly689=) | |
X | g.108668444G>T | CA413848955 | COL4A5 | c.3730G>T (p.Gly1244Cys) c.3406G>T (p.Gly1136Cys) c.1303G>T (p.Gly435Cys) c.3745G>T (p.Gly1249Cys) c.2065G>T (p.Gly689Cys) | |
X | g.108668445G>A | CA258947 | COL4A5 | c.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 |
X | g.108668445G>C | CA413848959 | COL4A5 | c.3731G>C (p.Gly1244Ala) c.3407G>C (p.Gly1136Ala) c.1304G>C (p.Gly435Ala) c.3746G>C (p.Gly1249Ala) c.2066G>C (p.Gly689Ala) | |
X | g.108668445G= | CA2450712968 | COL4A5 | c.3731G= (p.Gly1244=) c.3407G= (p.Gly1136=) c.1304G= (p.Gly435=) c.3746G= (p.Gly1249=) c.2066G= (p.Gly689=) | |
X | g.108668445G>T | CA413848961 | COL4A5 | c.3731G>T (p.Gly1244Val) c.3407G>T (p.Gly1136Val) c.1304G>T (p.Gly435Val) c.3746G>T (p.Gly1249Val) c.2066G>T (p.Gly689Val) | |
X | g.108668446T>A | CA517922719 | COL4A5 | c.3732T>A (p.Gly1244=) c.3408T>A (p.Gly1136=) c.1305T>A (p.Gly435=) c.3747T>A (p.Gly1249=) c.2067T>A (p.Gly689=) | |
X | g.108668446T>C | CA517922720 | COL4A5 | c.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 |
X | g.108668446T>G | CA517922721 | COL4A5 | c.3732T>G (p.Gly1244=) c.3408T>G (p.Gly1136=) c.1305T>G (p.Gly435=) c.3747T>G (p.Gly1249=) c.2067T>G (p.Gly689=) | |
X | g.108668446T= | CA2450712969 | COL4A5 | c.3732T= (p.Gly1244=) c.3408T= (p.Gly1136=) c.1305T= (p.Gly435=) c.3747T= (p.Gly1249=) c.2067T= (p.Gly689=) | |
X | g.108668447C>A | CA413848964 | COL4A5 | c.3733C>A (p.Pro1245Thr) c.3409C>A (p.Pro1137Thr) c.1306C>A (p.Pro436Thr) c.3748C>A (p.Pro1250Thr) c.2068C>A (p.Pro690Thr) | |
X | g.108668447C>G | CA413848966 | COL4A5 | c.3733C>G (p.Pro1245Ala) c.3409C>G (p.Pro1137Ala) c.1306C>G (p.Pro436Ala) c.3748C>G (p.Pro1250Ala) c.2068C>G (p.Pro690Ala) | |
X | g.108668447C>T | CA413848965 | COL4A5 | c.3733C>T (p.Pro1245Ser) c.3409C>T (p.Pro1137Ser) c.1306C>T (p.Pro436Ser) c.3748C>T (p.Pro1250Ser) c.2068C>T (p.Pro690Ser) | |
X | g.108668448C>A | CA413848968 | COL4A5 | c.3734C>A (p.Pro1245Gln) c.3410C>A (p.Pro1137Gln) c.1307C>A (p.Pro436Gln) c.3749C>A (p.Pro1250Gln) c.2069C>A (p.Pro690Gln) | |
X | g.108668448C= | CA2450712970 | COL4A5 | c.3734C= (p.Pro1245=) c.3410C= (p.Pro1137=) c.1307C= (p.Pro436=) c.3749C= (p.Pro1250=) c.2069C= (p.Pro690=) | |
X | g.108668448C>G | CA413848969 | COL4A5 | c.3734C>G (p.Pro1245Arg) c.3410C>G (p.Pro1137Arg) c.1307C>G (p.Pro436Arg) c.3749C>G (p.Pro1250Arg) c.2069C>G (p.Pro690Arg) | |
X | g.108668448C>T | CA413848970 | COL4A5 | c.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 |
X | g.108668449A>C | CA517922722 | COL4A5 | c.3735A>C (p.Pro1245=) c.3411A>C (p.Pro1137=) c.1308A>C (p.Pro436=) c.3750A>C (p.Pro1250=) c.2070A>C (p.Pro690=) | |
X | g.108668449A>G | CA517922723 | COL4A5 | c.3735A>G (p.Pro1245=) c.3411A>G (p.Pro1137=) c.1308A>G (p.Pro436=) c.3750A>G (p.Pro1250=) c.2070A>G (p.Pro690=) | |
X | g.108668449A>T | CA517922724 | COL4A5 | c.3735A>T (p.Pro1245=) c.3411A>T (p.Pro1137=) c.1308A>T (p.Pro436=) c.3750A>T (p.Pro1250=) c.2070A>T (p.Pro690=) | |
X | g.108668450G>A | CA413848972 | COL4A5 | c.3736G>A (p.Ala1246Thr) c.3412G>A (p.Ala1138Thr) c.1309G>A (p.Ala437Thr) c.3751G>A (p.Ala1251Thr) c.2071G>A (p.Ala691Thr) | |
X | g.108668450G>C | CA413848974 | COL4A5 | c.3736G>C (p.Ala1246Pro) c.3412G>C (p.Ala1138Pro) c.1309G>C (p.Ala437Pro) c.3751G>C (p.Ala1251Pro) c.2071G>C (p.Ala691Pro) | |
X | g.108668450G= | CA2450712971 | COL4A5 | c.3736G= (p.Ala1246=) c.3412G= (p.Ala1138=) c.1309G= (p.Ala437=) c.3751G= (p.Ala1251=) c.2071G= (p.Ala691=) | |
X | g.108668450G>T | CA10489162 | COL4A5 | c.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 |
X | g.108668451C>A | CA413848977 | COL4A5 | c.3737C>A (p.Ala1246Asp) c.3413C>A (p.Ala1138Asp) c.1310C>A (p.Ala437Asp) c.3752C>A (p.Ala1251Asp) c.2072C>A (p.Ala691Asp) | |
X | g.108668451C>G | CA413848979 | COL4A5 | c.3737C>G (p.Ala1246Gly) c.3413C>G (p.Ala1138Gly) c.1310C>G (p.Ala437Gly) c.3752C>G (p.Ala1251Gly) c.2072C>G (p.Ala691Gly) | |
X | g.108668451C>T | CA413848980 | COL4A5 | c.3737C>T (p.Ala1246Val) c.3413C>T (p.Ala1138Val) c.1310C>T (p.Ala437Val) c.3752C>T (p.Ala1251Val) c.2072C>T (p.Ala691Val) | |
X | g.108668452T>A | CA517922725 | COL4A5 | c.3738T>A (p.Ala1246=) c.3414T>A (p.Ala1138=) c.1311T>A (p.Ala437=) c.3753T>A (p.Ala1251=) c.2073T>A (p.Ala691=) | |
X | g.108668452T>C | CA517922726 | COL4A5 | c.3738T>C (p.Ala1246=) c.3414T>C (p.Ala1138=) c.1311T>C (p.Ala437=) c.3753T>C (p.Ala1251=) c.2073T>C (p.Ala691=) | |
X | g.108668452T>G | CA517922727 | COL4A5 | c.3738T>G (p.Ala1246=) c.3414T>G (p.Ala1138=) c.1311T>G (p.Ala437=) c.3753T>G (p.Ala1251=) c.2073T>G (p.Ala691=) | |
X | g.108668453C>A | CA413848983 | COL4A5 | c.3739C>A (p.Leu1247Met) c.3415C>A (p.Leu1139Met) c.1312C>A (p.Leu438Met) c.3754C>A (p.Leu1252Met) c.2074C>A (p.Leu692Met) | |
X | g.108668453C= | CA2450712972 | COL4A5 | c.3739C= (p.Leu1247=) c.3415C= (p.Leu1139=) c.1312C= (p.Leu438=) c.3754C= (p.Leu1252=) c.2074C= (p.Leu692=) | |
X | g.108668453C>G | CA10489163 | COL4A5 | c.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 |
X | g.108668453C>T | CA517922728 | COL4A5 | c.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 |
X | g.108668454T>A | CA413848985 | COL4A5 | c.3740T>A (p.Leu1247Gln) c.3416T>A (p.Leu1139Gln) c.1313T>A (p.Leu438Gln) c.3755T>A (p.Leu1252Gln) c.2075T>A (p.Leu692Gln) | |
X | g.108668454T>C | CA413848989 | COL4A5 | c.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 |
X | g.108668454T>G | CA413848987 | COL4A5 | c.3740T>G (p.Leu1247Arg) c.3416T>G (p.Leu1139Arg) c.1313T>G (p.Leu438Arg) c.3755T>G (p.Leu1252Arg) c.2075T>G (p.Leu692Arg) | |
X | g.108668454T= | CA2450712973 | COL4A5 | c.3740T= (p.Leu1247=) c.3416T= (p.Leu1139=) c.1313T= (p.Leu438=) c.3755T= (p.Leu1252=) c.2075T= (p.Leu692=) | |
X | g.108668455G>A | CA517922729 | COL4A5 | c.3741G>A (p.Leu1247=) c.3417G>A (p.Leu1139=) c.1314G>A (p.Leu438=) c.3756G>A (p.Leu1252=) c.2076G>A (p.Leu692=) | |
X | g.108668455G>C | CA517922730 | COL4A5 | c.3741G>C (p.Leu1247=) c.3417G>C (p.Leu1139=) c.1314G>C (p.Leu438=) c.3756G>C (p.Leu1252=) c.2076G>C (p.Leu692=) | |
X | g.108668455G>T | CA517922731 | COL4A5 | c.3741G>T (p.Leu1247=) c.3417G>T (p.Leu1139=) c.1314G>T (p.Leu438=) c.3756G>T (p.Leu1252=) c.2076G>T (p.Leu692=) | |
X | g.108668456del | CA2822901963 | COL4A5 | c.3742del (p.Glu1248LysfsTer?) c.3418del (p.Glu1140LysfsTer?) c.1315del (p.Glu439LysfsTer?) c.3757del (p.Glu1253LysfsTer?) c.2077del (p.Glu693LysfsTer?) | |
X | g.108668456G>A | CA413848992 | COL4A5 | c.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 |
X | g.108668456G>C | CA413848994 | COL4A5 | c.3742G>C (p.Glu1248Gln) c.3418G>C (p.Glu1140Gln) c.1315G>C (p.Glu439Gln) c.3757G>C (p.Glu1253Gln) c.2077G>C (p.Glu693Gln) | |
X | g.108668456G>T | CA413848995 | COL4A5 | c.3742G>T (p.Glu1248Ter) c.3418G>T (p.Glu1140Ter) c.1315G>T (p.Glu439Ter) c.3757G>T (p.Glu1253Ter) c.2077G>T (p.Glu693Ter) | |
X | g.108668457A= | CA2450712974 | COL4A5 | c.3743A= (p.Glu1248=) c.3419A= (p.Glu1140=) c.1316A= (p.Glu439=) c.3758A= (p.Glu1253=) c.2078A= (p.Glu693=) | |
X | g.108668457A>C | CA413848998 | COL4A5 | c.3743A>C (p.Glu1248Ala) c.3419A>C (p.Glu1140Ala) c.1316A>C (p.Glu439Ala) c.3758A>C (p.Glu1253Ala) c.2078A>C (p.Glu693Ala) | |
X | g.108668457A>G | CA413849000 | COL4A5 | c.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 |
X | g.108668457A>T | CA413849001 | COL4A5 | c.3743A>T (p.Glu1248Val) c.3419A>T (p.Glu1140Val) c.1316A>T (p.Glu439Val) c.3758A>T (p.Glu1253Val) c.2078A>T (p.Glu693Val) | |
X | g.108668458A>C | CA413849003 | COL4A5 | c.3744A>C (p.Glu1248Asp) c.3420A>C (p.Glu1140Asp) c.1317A>C (p.Glu439Asp) c.3759A>C (p.Glu1253Asp) c.2079A>C (p.Glu693Asp) | |
X | g.108668458A>G | CA517922732 | COL4A5 | c.3744A>G (p.Glu1248=) c.3420A>G (p.Glu1140=) c.1317A>G (p.Glu439=) c.3759A>G (p.Glu1253=) c.2079A>G (p.Glu693=) | |
X | g.108668458A>T | CA413849004 | COL4A5 | c.3744A>T (p.Glu1248Asp) c.3420A>T (p.Glu1140Asp) c.1317A>T (p.Glu439Asp) c.3759A>T (p.Glu1253Asp) c.2079A>T (p.Glu693Asp) | |
X | g.108668458_108668459delinsAG | CA2450712975 | COL4A5 | c.3744_3745delinsAG (p.Glu1248=) c.3420_3421delinsAG (p.Glu1140=) c.1317_1318delinsAG (p.Glu439=) c.3759_3760delinsAG (p.Glu1253=) c.2079_2080delinsAG (p.Glu693=) | |
X | g.108668459G>A | CA10489164 | COL4A5 | c.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 |
X | g.108668459G>C | CA413849007 | COL4A5 | c.3745G>C (p.Gly1249Arg) c.3421G>C (p.Gly1141Arg) c.1318G>C (p.Gly440Arg) c.3760G>C (p.Gly1254Arg) c.2080G>C (p.Gly694Arg) | |
X | g.108668459G= | CA2450712976 | COL4A5 | c.3745G= (p.Gly1249=) c.3421G= (p.Gly1141=) c.1318G= (p.Gly440=) c.3760G= (p.Gly1254=) c.2080G= (p.Gly694=) | |
X | g.108668459G>T | CA413849009 | COL4A5 | c.3745G>T (p.Gly1249Ter) c.3421G>T (p.Gly1141Ter) c.1318G>T (p.Gly440Ter) c.3760G>T (p.Gly1254Ter) c.2080G>T (p.Gly694Ter) | |
X | g.108668460del | CA891843684 | COL4A5 | c.3746del (p.Gly1249AspfsTer?) c.3422del (p.Gly1141AspfsTer?) c.1319del (p.Gly440AspfsTer?) c.3761del (p.Gly1254AspfsTer?) c.2081del (p.Gly694AspfsTer?) | |
X | g.108668460G>A | CA413849015 | COL4A5 | c.3746G>A (p.Gly1249Glu) c.3422G>A (p.Gly1141Glu) c.1319G>A (p.Gly440Glu) c.3761G>A (p.Gly1254Glu) c.2081G>A (p.Gly694Glu) | |
X | g.108668460G>C | CA413849013 | COL4A5 | c.3746G>C (p.Gly1249Ala) c.3422G>C (p.Gly1141Ala) c.1319G>C (p.Gly440Ala) c.3761G>C (p.Gly1254Ala) c.2081G>C (p.Gly694Ala) | |
X | g.108668460G>T | CA413849012 | COL4A5 | c.3746G>T (p.Gly1249Val) c.3422G>T (p.Gly1141Val) c.1319G>T (p.Gly440Val) c.3761G>T (p.Gly1254Val) c.2081G>T (p.Gly694Val) | gnomAD v4 |
X | g.108668461A= | CA2450712977 | COL4A5 | c.3747A= (p.Gly1249=) c.3423A= (p.Gly1141=) c.1320A= (p.Gly440=) c.3762A= (p.Gly1254=) c.2082A= (p.Gly694=) | |
X | g.108668461A>C | CA517922733 | COL4A5 | c.3747A>C (p.Gly1249=) c.3423A>C (p.Gly1141=) c.1320A>C (p.Gly440=) c.3762A>C (p.Gly1254=) c.2082A>C (p.Gly694=) | |
X | g.108668461A>G | CA517922734 | COL4A5 | c.3747A>G (p.Gly1249=) c.3423A>G (p.Gly1141=) c.1320A>G (p.Gly440=) c.3762A>G (p.Gly1254=) c.2082A>G (p.Gly694=) | |
X | g.108668461A>T | CA517922735 | COL4A5 | c.3747A>T (p.Gly1249=) c.3423A>T (p.Gly1141=) c.1320A>T (p.Gly440=) c.3762A>T (p.Gly1254=) c.2082A>T (p.Gly694=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108668462C>A | CA413849018 | COL4A5 | c.3748C>A (p.Pro1250Thr) c.3424C>A (p.Pro1142Thr) c.1321C>A (p.Pro441Thr) c.3763C>A (p.Pro1255Thr) c.2083C>A (p.Pro695Thr) | |
X | g.108668462C= | CA2450712978 | COL4A5 | c.3748C= (p.Pro1250=) c.3424C= (p.Pro1142=) c.1321C= (p.Pro441=) c.3763C= (p.Pro1255=) c.2083C= (p.Pro695=) | |
X | g.108668462C>G | CA413849019 | COL4A5 | c.3748C>G (p.Pro1250Ala) c.3424C>G (p.Pro1142Ala) c.1321C>G (p.Pro441Ala) c.3763C>G (p.Pro1255Ala) c.2083C>G (p.Pro695Ala) | |
X | g.108668462C>T | CA413849022 | COL4A5 | c.3748C>T (p.Pro1250Ser) c.3424C>T (p.Pro1142Ser) c.1321C>T (p.Pro441Ser) c.3763C>T (p.Pro1255Ser) c.2083C>T (p.Pro695Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108668463C>A | CA413849024 | COL4A5 | c.3749C>A (p.Pro1250His) c.3425C>A (p.Pro1142His) c.1322C>A (p.Pro441His) c.3764C>A (p.Pro1255His) c.2084C>A (p.Pro695His) | |
X | g.108668463C>G | CA413849026 | COL4A5 | c.3749C>G (p.Pro1250Arg) c.3425C>G (p.Pro1142Arg) c.1322C>G (p.Pro441Arg) c.3764C>G (p.Pro1255Arg) c.2084C>G (p.Pro695Arg) | |
X | g.108668463C>T | CA413849027 | COL4A5 | c.3749C>T (p.Pro1250Leu) c.3425C>T (p.Pro1142Leu) c.1322C>T (p.Pro441Leu) c.3764C>T (p.Pro1255Leu) c.2084C>T (p.Pro695Leu) | |
X | g.108668464T>A | CA517922736 | COL4A5 | c.3750T>A (p.Pro1250=) c.3426T>A (p.Pro1142=) c.1323T>A (p.Pro441=) c.3765T>A (p.Pro1255=) c.2085T>A (p.Pro695=) | |
X | g.108668464T>C | CA517922737 | COL4A5 | c.3750T>C (p.Pro1250=) c.3426T>C (p.Pro1142=) c.1323T>C (p.Pro441=) c.3765T>C (p.Pro1255=) c.2085T>C (p.Pro695=) | ClinVar |
X | g.108668464T>G | CA517922738 | COL4A5 | c.3750T>G (p.Pro1250=) c.3426T>G (p.Pro1142=) c.1323T>G (p.Pro441=) c.3765T>G (p.Pro1255=) c.2085T>G (p.Pro695=) | |
X | g.108668465A>C | CA413849028 | COL4A5 | c.3751A>C (p.Lys1251Gln) c.3427A>C (p.Lys1143Gln) c.1324A>C (p.Lys442Gln) c.3766A>C (p.Lys1256Gln) c.2086A>C (p.Lys696Gln) | |
X | g.108668465A>G | CA413849030 | COL4A5 | c.3751A>G (p.Lys1251Glu) c.3427A>G (p.Lys1143Glu) c.1324A>G (p.Lys442Glu) c.3766A>G (p.Lys1256Glu) c.2086A>G (p.Lys696Glu) | ClinVar |
X | g.108668465A>T | CA413849032 | COL4A5 | c.3751A>T (p.Lys1251Ter) c.3427A>T (p.Lys1143Ter) c.1324A>T (p.Lys442Ter) c.3766A>T (p.Lys1256Ter) c.2086A>T (p.Lys696Ter) | |
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=) |