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.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.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.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) |