UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.108668319G>A | CA413848319 | COL4A5 | c.3605G>A (p.Gly1202Asp) c.3281G>A (p.Gly1094Asp) c.1178G>A (p.Gly393Asp) c.3620G>A (p.Gly1207Asp) c.1940G>A (p.Gly647Asp) | ClinVar dbSNP |
| X | g.108668319G>C | CA413848321 | COL4A5 | c.3605G>C (p.Gly1202Ala) c.3281G>C (p.Gly1094Ala) c.1178G>C (p.Gly393Ala) c.3620G>C (p.Gly1207Ala) c.1940G>C (p.Gly647Ala) | |
| X | g.108668319G= | CA2450712913 | COL4A5 | c.3605G= (p.Gly1202=) c.3281G= (p.Gly1094=) c.1178G= (p.Gly393=) c.3620G= (p.Gly1207=) c.1940G= (p.Gly647=) | |
| X | g.108668319G>T | CA413848323 | COL4A5 | c.3605G>T (p.Gly1202Val) c.3281G>T (p.Gly1094Val) c.1178G>T (p.Gly393Val) c.3620G>T (p.Gly1207Val) c.1940G>T (p.Gly647Val) | ClinVar dbSNP |
| X | g.108668320C>A | CA517922544 | COL4A5 | c.3606C>A (p.Gly1202=) c.3282C>A (p.Gly1094=) c.1179C>A (p.Gly393=) c.3621C>A (p.Gly1207=) c.1941C>A (p.Gly647=) | |
| X | g.108668320C>G | CA517922545 | COL4A5 | c.3606C>G (p.Gly1202=) c.3282C>G (p.Gly1094=) c.1179C>G (p.Gly393=) c.3621C>G (p.Gly1207=) c.1941C>G (p.Gly647=) | |
| X | g.108668320C>T | CA517922546 | COL4A5 | c.3606C>T (p.Gly1202=) c.3282C>T (p.Gly1094=) c.1179C>T (p.Gly393=) c.3621C>T (p.Gly1207=) c.1941C>T (p.Gly647=) | gnomAD v4 |
| X | g.108668321C>A | CA413848325 | COL4A5 | c.3607C>A (p.Gln1203Lys) c.3283C>A (p.Gln1095Lys) c.1180C>A (p.Gln394Lys) c.3622C>A (p.Gln1208Lys) c.1942C>A (p.Gln648Lys) | |
| X | g.108668321C>G | CA413848327 | COL4A5 | c.3607C>G (p.Gln1203Glu) c.3283C>G (p.Gln1095Glu) c.1180C>G (p.Gln394Glu) c.3622C>G (p.Gln1208Glu) c.1942C>G (p.Gln648Glu) | |
| X | g.108668321C>T | CA413848330 | COL4A5 | c.3607C>T (p.Gln1203Ter) c.3283C>T (p.Gln1095Ter) c.1180C>T (p.Gln394Ter) c.3622C>T (p.Gln1208Ter) c.1942C>T (p.Gln648Ter) | |
| X | g.108668322A>C | CA413848332 | COL4A5 | c.3608A>C (p.Gln1203Pro) c.3284A>C (p.Gln1095Pro) c.1181A>C (p.Gln394Pro) c.3623A>C (p.Gln1208Pro) c.1943A>C (p.Gln648Pro) | |
| X | g.108668322A>G | CA413848334 | COL4A5 | c.3608A>G (p.Gln1203Arg) c.3284A>G (p.Gln1095Arg) c.1181A>G (p.Gln394Arg) c.3623A>G (p.Gln1208Arg) c.1943A>G (p.Gln648Arg) | |
| X | g.108668322A>T | CA413848336 | COL4A5 | c.3608A>T (p.Gln1203Leu) c.3284A>T (p.Gln1095Leu) c.1181A>T (p.Gln394Leu) c.3623A>T (p.Gln1208Leu) c.1943A>T (p.Gln648Leu) | |
| X | g.108668325del | CA2579676916 | COL4A5 | c.3611del (p.Lys1204ArgfsTer?) c.3287del (p.Lys1096ArgfsTer?) c.1184del (p.Lys395ArgfsTer?) c.3626del (p.Lys1209ArgfsTer?) c.1946del (p.Lys649ArgfsTer?) | |
| X | g.108668323A= | CA2450712914 | COL4A5 | c.3609A= (p.Gln1203=) c.3285A= (p.Gln1095=) c.1182A= (p.Gln394=) c.3624A= (p.Gln1208=) c.1944A= (p.Gln648=) | |
| X | g.108668323A>C | CA413848339 | COL4A5 | c.3609A>C (p.Gln1203His) c.3285A>C (p.Gln1095His) c.1182A>C (p.Gln394His) c.3624A>C (p.Gln1208His) c.1944A>C (p.Gln648His) | |
| X | g.108668323A>G | CA10489155 | COL4A5 | c.3609A>G (p.Gln1203=) c.3285A>G (p.Gln1095=) c.1182A>G (p.Gln394=) c.3624A>G (p.Gln1208=) c.1944A>G (p.Gln648=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108668323A>T | CA413848342 | COL4A5 | c.3609A>T (p.Gln1203His) c.3285A>T (p.Gln1095His) c.1182A>T (p.Gln394His) c.3624A>T (p.Gln1208His) c.1944A>T (p.Gln648His) | |
| X | g.108668324A>C | CA413848349 | COL4A5 | c.3610A>C (p.Lys1204Gln) c.3286A>C (p.Lys1096Gln) c.1183A>C (p.Lys395Gln) c.3625A>C (p.Lys1209Gln) c.1945A>C (p.Lys649Gln) | |
| X | g.108668324A>G | CA413848346 | COL4A5 | c.3610A>G (p.Lys1204Glu) c.3286A>G (p.Lys1096Glu) c.1183A>G (p.Lys395Glu) c.3625A>G (p.Lys1209Glu) c.1945A>G (p.Lys649Glu) | |
| X | g.108668324A>T | CA413848344 | COL4A5 | c.3610A>T (p.Lys1204Ter) c.3286A>T (p.Lys1096Ter) c.1183A>T (p.Lys395Ter) c.3625A>T (p.Lys1209Ter) c.1945A>T (p.Lys649Ter) | |
| X | g.108668325A>C | CA413848350 | COL4A5 | c.3611A>C (p.Lys1204Thr) c.3287A>C (p.Lys1096Thr) c.1184A>C (p.Lys395Thr) c.3626A>C (p.Lys1209Thr) c.1946A>C (p.Lys649Thr) | |
| X | g.108668325A>G | CA413848353 | COL4A5 | c.3611A>G (p.Lys1204Arg) c.3287A>G (p.Lys1096Arg) c.1184A>G (p.Lys395Arg) c.3626A>G (p.Lys1209Arg) c.1946A>G (p.Lys649Arg) | COSMIC COSMIC |
| X | g.108668325A>T | CA413848352 | COL4A5 | c.3611A>T (p.Lys1204Met) c.3287A>T (p.Lys1096Met) c.1184A>T (p.Lys395Met) c.3626A>T (p.Lys1209Met) c.1946A>T (p.Lys649Met) | |
| X | g.108668326G>A | CA517922547 | COL4A5 | c.3612G>A (p.Lys1204=) c.3288G>A (p.Lys1096=) c.1185G>A (p.Lys395=) c.3627G>A (p.Lys1209=) c.1947G>A (p.Lys649=) | |
| X | g.108668326G>C | CA413848354 | COL4A5 | c.3612G>C (p.Lys1204Asn) c.3288G>C (p.Lys1096Asn) c.1185G>C (p.Lys395Asn) c.3627G>C (p.Lys1209Asn) c.1947G>C (p.Lys649Asn) | |
| X | g.108668326G>T | CA413848356 | COL4A5 | c.3612G>T (p.Lys1204Asn) c.3288G>T (p.Lys1096Asn) c.1185G>T (p.Lys395Asn) c.3627G>T (p.Lys1209Asn) c.1947G>T (p.Lys649Asn) | |
| X | g.108668328del | CA2695235653 | COL4A5 | c.3614del (p.Gly1205ValfsTer?) c.3290del (p.Gly1097ValfsTer?) c.1187del (p.Gly396ValfsTer?) c.3629del (p.Gly1210ValfsTer?) c.1949del (p.Gly650ValfsTer?) | |
| X | g.108668327G>A | CA258909 | COL4A5 | c.3613G>A (p.Gly1205Ser) c.3289G>A (p.Gly1097Ser) c.1186G>A (p.Gly396Ser) c.3628G>A (p.Gly1210Ser) c.1948G>A (p.Gly650Ser) | ClinVar dbSNP |
| X | g.108668327G>C | CA413848359 | COL4A5 | c.3613G>C (p.Gly1205Arg) c.3289G>C (p.Gly1097Arg) c.1186G>C (p.Gly396Arg) c.3628G>C (p.Gly1210Arg) c.1948G>C (p.Gly650Arg) | |
| X | g.108668327G= | CA2450712915 | COL4A5 | c.3613G= (p.Gly1205=) c.3289G= (p.Gly1097=) c.1186G= (p.Gly396=) c.3628G= (p.Gly1210=) c.1948G= (p.Gly650=) | |
| X | g.108668327G>T | CA258907 | COL4A5 | c.3613G>T (p.Gly1205Cys) c.3289G>T (p.Gly1097Cys) c.1186G>T (p.Gly396Cys) c.3628G>T (p.Gly1210Cys) c.1948G>T (p.Gly650Cys) | dbSNP |
| X | g.108668328G>A | CA413848361 | COL4A5 | c.3614G>A (p.Gly1205Asp) c.3290G>A (p.Gly1097Asp) c.1187G>A (p.Gly396Asp) c.3629G>A (p.Gly1210Asp) c.1949G>A (p.Gly650Asp) | ClinVar dbSNP gnomAD v4 |
| X | g.108668328G>C | CA413848362 | COL4A5 | c.3614G>C (p.Gly1205Ala) c.3290G>C (p.Gly1097Ala) c.1187G>C (p.Gly396Ala) c.3629G>C (p.Gly1210Ala) c.1949G>C (p.Gly650Ala) | |
| X | g.108668328G= | CA2450712916 | COL4A5 | c.3614G= (p.Gly1205=) c.3290G= (p.Gly1097=) c.1187G= (p.Gly396=) c.3629G= (p.Gly1210=) c.1949G= (p.Gly650=) | |
| X | g.108668328G>T | CA413848363 | COL4A5 | c.3614G>T (p.Gly1205Val) c.3290G>T (p.Gly1097Val) c.1187G>T (p.Gly396Val) c.3629G>T (p.Gly1210Val) c.1949G>T (p.Gly650Val) | ClinVar dbSNP |
| X | g.108668329T>A | CA517922550 | COL4A5 | c.3615T>A (p.Gly1205=) c.3291T>A (p.Gly1097=) c.1188T>A (p.Gly396=) c.3630T>A (p.Gly1210=) c.1950T>A (p.Gly650=) | |
| X | g.108668329T>C | CA517922548 | COL4A5 | c.3615T>C (p.Gly1205=) c.3291T>C (p.Gly1097=) c.1188T>C (p.Gly396=) c.3630T>C (p.Gly1210=) c.1950T>C (p.Gly650=) | |
| X | g.108668329T>G | CA517922549 | COL4A5 | c.3615T>G (p.Gly1205=) c.3291T>G (p.Gly1097=) c.1188T>G (p.Gly396=) c.3630T>G (p.Gly1210=) c.1950T>G (p.Gly650=) | |
| X | g.108668329_108668333delinsTGATG | CA2450712917 | COL4A5 | c.3615_3619delinsTGATG (p.Gly1205=) c.3291_3295delinsTGATG (p.Gly1097=) c.1188_1192delinsTGATG (p.Gly396=) c.3630_3634delinsTGATG (p.Gly1210=) c.1950_1954delinsTGATG (p.Gly650=) | |
| X | g.108668330G>A | CA413848364 | COL4A5 | c.3616G>A (p.Asp1206Asn) c.3292G>A (p.Asp1098Asn) c.1189G>A (p.Asp397Asn) c.3631G>A (p.Asp1211Asn) c.1951G>A (p.Asp651Asn) | |
| X | g.108668330G>C | CA413848366 | COL4A5 | c.3616G>C (p.Asp1206His) c.3292G>C (p.Asp1098His) c.1189G>C (p.Asp397His) c.3631G>C (p.Asp1211His) c.1951G>C (p.Asp651His) | |
| X | g.108668330G>T | CA413848367 | COL4A5 | c.3616G>T (p.Asp1206Tyr) c.3292G>T (p.Asp1098Tyr) c.1189G>T (p.Asp397Tyr) c.3631G>T (p.Asp1211Tyr) c.1951G>T (p.Asp651Tyr) | |
| X | g.108668332_108668335del | CA334046710 | COL4A5 | c.3618_3621del (p.Asp1206GlufsTer?) c.3294_3297del (p.Asp1098GlufsTer?) c.1191_1194del (p.Asp397GlufsTer?) c.3633_3636del (p.Asp1211GlufsTer?) c.1953_1956del (p.Asp651GlufsTer?) | dbSNP |
| X | g.108668331A>C | CA413848372 | COL4A5 | c.3617A>C (p.Asp1206Ala) c.3293A>C (p.Asp1098Ala) c.1190A>C (p.Asp397Ala) c.3632A>C (p.Asp1211Ala) c.1952A>C (p.Asp651Ala) | |
| X | g.108668331A>G | CA413848369 | COL4A5 | c.3617A>G (p.Asp1206Gly) c.3293A>G (p.Asp1098Gly) c.1190A>G (p.Asp397Gly) c.3632A>G (p.Asp1211Gly) c.1952A>G (p.Asp651Gly) | ClinVar dbSNP gnomAD v4 |
| X | g.108668331A>T | CA413848370 | COL4A5 | c.3617A>T (p.Asp1206Val) c.3293A>T (p.Asp1098Val) c.1190A>T (p.Asp397Val) c.3632A>T (p.Asp1211Val) c.1952A>T (p.Asp651Val) | |
| X | g.108668331_108668336delinsATGGAG | CA2450712918 | COL4A5 | c.3617_3622delinsATGGAG (p.Asp1206=) c.3293_3298delinsATGGAG (p.Asp1098=) c.1190_1195delinsATGGAG (p.Asp397=) c.3632_3637delinsATGGAG (p.Asp1211=) c.1952_1957delinsATGGAG (p.Asp651=) | |
| X | g.108668332T>A | CA413848375 | COL4A5 | c.3618T>A (p.Asp1206Glu) c.3294T>A (p.Asp1098Glu) c.1191T>A (p.Asp397Glu) c.3633T>A (p.Asp1211Glu) c.1953T>A (p.Asp651Glu) |