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.108681754_108681765del | CA2694442863 | COL4A5 | c.4088-6_4093del c.4070-6_4075del n.582-6_587del n.491-6_496del c.4079-6_4084del c.3764-6_3769del c.1661-6_1666del c.4103-6_4108del c.4094-6_4099del c.4085-6_4090del c.2423-6_2428del | gnomAD v4 |
| X | g.108681756A= | CA2450717211 | COL4A5 | c.4088-4A= (n.4088-4A=) c.4070-4A= (n.4070-4A=) n.582-4A= n.491-4A= c.4079-4A= (n.4079-4A=) c.3764-4A= (n.3764-4A=) c.1661-4A= (n.1661-4A=) c.4103-4A= (n.4103-4A=) c.4094-4A= (n.4094-4A=) c.4085-4A= (n.4085-4A=) c.2423-4A= (n.2423-4A=) | |
| X | g.108681756A>C | CA2450717212 | COL4A5 | c.4088-4A>C (n.4088-4A>C) c.4070-4A>C (n.4070-4A>C) n.582-4A>C n.491-4A>C c.4079-4A>C (n.4079-4A>C) c.3764-4A>C (n.3764-4A>C) c.1661-4A>C (n.1661-4A>C) c.4103-4A>C (n.4103-4A>C) c.4094-4A>C (n.4094-4A>C) c.4085-4A>C (n.4085-4A>C) c.2423-4A>C (n.2423-4A>C) | ClinVar dbSNP |
| X | g.108681756A>G | CA869822895 | COL4A5 | c.4088-4A>G (n.4088-4A>G) c.4070-4A>G (n.4070-4A>G) n.582-4A>G n.491-4A>G c.4079-4A>G (n.4079-4A>G) c.3764-4A>G (n.3764-4A>G) c.1661-4A>G (n.1661-4A>G) c.4103-4A>G (n.4103-4A>G) c.4094-4A>G (n.4094-4A>G) c.4085-4A>G (n.4085-4A>G) c.2423-4A>G (n.2423-4A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.108681757T>C | CA10489292 | COL4A5 | c.4088-3T>C (n.4088-3T>C) c.4070-3T>C (n.4070-3T>C) n.582-3T>C n.491-3T>C c.4079-3T>C (n.4079-3T>C) c.3764-3T>C (n.3764-3T>C) c.1661-3T>C (n.1661-3T>C) c.4103-3T>C (n.4103-3T>C) c.4094-3T>C (n.4094-3T>C) c.4085-3T>C (n.4085-3T>C) c.2423-3T>C (n.2423-3T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108681757T>G | CA2573159092 | COL4A5 | c.4088-3T>G (n.4088-3T>G) c.4070-3T>G (n.4070-3T>G) n.582-3T>G n.491-3T>G c.4079-3T>G (n.4079-3T>G) c.3764-3T>G (n.3764-3T>G) c.1661-3T>G (n.1661-3T>G) c.4103-3T>G (n.4103-3T>G) c.4094-3T>G (n.4094-3T>G) c.4085-3T>G (n.4085-3T>G) c.2423-3T>G (n.2423-3T>G) | ClinVar dbSNP |
| X | g.108681757T= | CA2450717213 | COL4A5 | c.4088-3T= (n.4088-3T=) c.4070-3T= (n.4070-3T=) n.582-3T= n.491-3T= c.4079-3T= (n.4079-3T=) c.3764-3T= (n.3764-3T=) c.1661-3T= (n.1661-3T=) c.4103-3T= (n.4103-3T=) c.4094-3T= (n.4094-3T=) c.4085-3T= (n.4085-3T=) c.2423-3T= (n.2423-3T=) | |
| X | g.108681758A>C | CA413851850 | COL4A5 | c.4088-2A>C (n.4088-2A>C) c.4070-2A>C (n.4070-2A>C) n.582-2A>C n.491-2A>C c.4079-2A>C (n.4079-2A>C) c.3764-2A>C (n.3764-2A>C) c.1661-2A>C (n.1661-2A>C) c.4103-2A>C (n.4103-2A>C) c.4094-2A>C (n.4094-2A>C) c.4085-2A>C (n.4085-2A>C) c.2423-2A>C (n.2423-2A>C) | |
| X | g.108681758A>G | CA413851848 | COL4A5 | c.4088-2A>G (n.4088-2A>G) c.4070-2A>G (n.4070-2A>G) n.582-2A>G n.491-2A>G c.4079-2A>G (n.4079-2A>G) c.3764-2A>G (n.3764-2A>G) c.1661-2A>G (n.1661-2A>G) c.4103-2A>G (n.4103-2A>G) c.4094-2A>G (n.4094-2A>G) c.4085-2A>G (n.4085-2A>G) c.2423-2A>G (n.2423-2A>G) | ClinVar |
| X | g.108681758A>T | CA413851846 | COL4A5 | c.4088-2A>T (n.4088-2A>T) c.4070-2A>T (n.4070-2A>T) n.582-2A>T n.491-2A>T c.4079-2A>T (n.4079-2A>T) c.3764-2A>T (n.3764-2A>T) c.1661-2A>T (n.1661-2A>T) c.4103-2A>T (n.4103-2A>T) c.4094-2A>T (n.4094-2A>T) c.4085-2A>T (n.4085-2A>T) c.2423-2A>T (n.2423-2A>T) | |
| X | g.108681759G>A | CA413851852 | COL4A5 | c.4088-1G>A (n.4088-1G>A) c.4070-1G>A (n.4070-1G>A) n.582-1G>A n.491-1G>A c.4079-1G>A (n.4079-1G>A) c.3764-1G>A (n.3764-1G>A) c.1661-1G>A (n.1661-1G>A) c.4103-1G>A (n.4103-1G>A) c.4094-1G>A (n.4094-1G>A) c.4085-1G>A (n.4085-1G>A) c.2423-1G>A (n.2423-1G>A) | |
| X | g.108681759G>C | CA413851854 | COL4A5 | c.4088-1G>C (n.4088-1G>C) c.4070-1G>C (n.4070-1G>C) n.582-1G>C n.491-1G>C c.4079-1G>C (n.4079-1G>C) c.3764-1G>C (n.3764-1G>C) c.1661-1G>C (n.1661-1G>C) c.4103-1G>C (n.4103-1G>C) c.4094-1G>C (n.4094-1G>C) c.4085-1G>C (n.4085-1G>C) c.2423-1G>C (n.2423-1G>C) | |
| X | g.108681759G>T | CA413851855 | COL4A5 | c.4088-1G>T (n.4088-1G>T) c.4070-1G>T (n.4070-1G>T) n.582-1G>T n.491-1G>T c.4079-1G>T (n.4079-1G>T) c.3764-1G>T (n.3764-1G>T) c.1661-1G>T (n.1661-1G>T) c.4103-1G>T (n.4103-1G>T) c.4094-1G>T (n.4094-1G>T) c.4085-1G>T (n.4085-1G>T) c.2423-1G>T (n.2423-1G>T) | |
| X | g.108681760G>A | CA413851857 | COL4A5 | c.4088G>A (p.Gly1363Asp) c.4070G>A (p.Gly1357Asp) n.582G>A n.491G>A c.4079G>A (p.Gly1360Asp) c.3764G>A (p.Gly1255Asp) c.1661G>A (p.Gly554Asp) c.4103G>A (p.Gly1368Asp) c.4094G>A (p.Gly1365Asp) c.4085G>A (p.Gly1362Asp) c.2423G>A (p.Gly808Asp) | |
| X | g.108681760G>C | CA413851860 | COL4A5 | c.4088G>C (p.Gly1363Ala) c.4070G>C (p.Gly1357Ala) n.582G>C n.491G>C c.4079G>C (p.Gly1360Ala) c.3764G>C (p.Gly1255Ala) c.1661G>C (p.Gly554Ala) c.4103G>C (p.Gly1368Ala) c.4094G>C (p.Gly1365Ala) c.4085G>C (p.Gly1362Ala) c.2423G>C (p.Gly808Ala) | ClinVar dbSNP |
| X | g.108681760G>T | CA413851861 | COL4A5 | c.4088G>T (p.Gly1363Val) c.4070G>T (p.Gly1357Val) n.582G>T n.491G>T c.4079G>T (p.Gly1360Val) c.3764G>T (p.Gly1255Val) c.1661G>T (p.Gly554Val) c.4103G>T (p.Gly1368Val) c.4094G>T (p.Gly1365Val) c.4085G>T (p.Gly1362Val) c.2423G>T (p.Gly808Val) | |
| X | g.108681760_108681761delinsGT | CA2450717214 | COL4A5 | c.4088_4089delinsGT (p.Gly1363=) c.4070_4071delinsGT (p.Gly1357=) n.582_583delinsGT n.491_492delinsGT c.4079_4080delinsGT (p.Gly1360=) c.3764_3765delinsGT (p.Gly1255=) c.1661_1662delinsGT (p.Gly554=) c.4103_4104delinsGT (p.Gly1368=) c.4094_4095delinsGT (p.Gly1365=) c.4085_4086delinsGT (p.Gly1362=) c.2423_2424delinsGT (p.Gly808=) | |
| X | g.108681761del | CA258985 | COL4A5 | c.4089del (p.Pro1364LeufsTer13) c.4071del (p.Pro1358LeufsTer13) n.583del n.492del c.4080del (p.Pro1361LeufsTer13) c.3765del (p.Pro1256LeufsTer13) c.1662del (p.Pro555LeufsTer13) c.4104del (p.Pro1369LeufsTer13) c.4095del (p.Pro1366LeufsTer13) c.4086del (p.Pro1363LeufsTer13) c.2424del (p.Pro809LeufsTer13) | dbSNP |
| X | g.108681761T>A | CA334055310 | COL4A5 | c.4089T>A (p.Gly1363=) c.4071T>A (p.Gly1357=) n.583T>A n.492T>A c.4080T>A (p.Gly1360=) c.3765T>A (p.Gly1255=) c.1662T>A (p.Gly554=) c.4104T>A (p.Gly1368=) c.4095T>A (p.Gly1365=) c.4086T>A (p.Gly1362=) c.2424T>A (p.Gly808=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108681761T>C | CA517923786 | COL4A5 | c.4089T>C (p.Gly1363=) c.4071T>C (p.Gly1357=) n.583T>C n.492T>C c.4080T>C (p.Gly1360=) c.3765T>C (p.Gly1255=) c.1662T>C (p.Gly554=) c.4104T>C (p.Gly1368=) c.4095T>C (p.Gly1365=) c.4086T>C (p.Gly1362=) c.2424T>C (p.Gly808=) | ClinVar dbSNP |
| X | g.108681761T>G | CA517923785 | COL4A5 | c.4089T>G (p.Gly1363=) c.4071T>G (p.Gly1357=) n.583T>G n.492T>G c.4080T>G (p.Gly1360=) c.3765T>G (p.Gly1255=) c.1662T>G (p.Gly554=) c.4104T>G (p.Gly1368=) c.4095T>G (p.Gly1365=) c.4086T>G (p.Gly1362=) c.2424T>G (p.Gly808=) | ClinVar dbSNP |
| X | g.108681761T= | CA2450717215 | COL4A5 | c.4089T= (p.Gly1363=) c.4071T= (p.Gly1357=) n.583T= n.492T= c.4080T= (p.Gly1360=) c.3765T= (p.Gly1255=) c.1662T= (p.Gly554=) c.4104T= (p.Gly1368=) c.4095T= (p.Gly1365=) c.4086T= (p.Gly1362=) c.2424T= (p.Gly808=) | |
| X | g.108681762C>A | CA413851864 | COL4A5 | c.4090C>A (p.Pro1364Thr) c.4072C>A (p.Pro1358Thr) n.584C>A n.493C>A c.4081C>A (p.Pro1361Thr) c.3766C>A (p.Pro1256Thr) c.1663C>A (p.Pro555Thr) c.4105C>A (p.Pro1369Thr) c.4096C>A (p.Pro1366Thr) c.4087C>A (p.Pro1363Thr) c.2425C>A (p.Pro809Thr) | |
| X | g.108681762C>G | CA413851866 | COL4A5 | c.4090C>G (p.Pro1364Ala) c.4072C>G (p.Pro1358Ala) n.584C>G n.493C>G c.4081C>G (p.Pro1361Ala) c.3766C>G (p.Pro1256Ala) c.1663C>G (p.Pro555Ala) c.4105C>G (p.Pro1369Ala) c.4096C>G (p.Pro1366Ala) c.4087C>G (p.Pro1363Ala) c.2425C>G (p.Pro809Ala) | |
| X | g.108681762C>T | CA413851867 | COL4A5 | c.4090C>T (p.Pro1364Ser) c.4072C>T (p.Pro1358Ser) n.584C>T n.493C>T c.4081C>T (p.Pro1361Ser) c.3766C>T (p.Pro1256Ser) c.1663C>T (p.Pro555Ser) c.4105C>T (p.Pro1369Ser) c.4096C>T (p.Pro1366Ser) c.4087C>T (p.Pro1363Ser) c.2425C>T (p.Pro809Ser) | |
| X | g.108681763C>A | CA413851870 | COL4A5 | c.4091C>A (p.Pro1364His) c.4073C>A (p.Pro1358His) n.585C>A n.494C>A c.4082C>A (p.Pro1361His) c.3767C>A (p.Pro1256His) c.1664C>A (p.Pro555His) c.4106C>A (p.Pro1369His) c.4097C>A (p.Pro1366His) c.4088C>A (p.Pro1363His) c.2426C>A (p.Pro809His) | |
| X | g.108681763C= | CA2450717216 | COL4A5 | c.4091C= (p.Pro1364=) c.4073C= (p.Pro1358=) n.585C= n.494C= c.4082C= (p.Pro1361=) c.3767C= (p.Pro1256=) c.1664C= (p.Pro555=) c.4106C= (p.Pro1369=) c.4097C= (p.Pro1366=) c.4088C= (p.Pro1363=) c.2426C= (p.Pro809=) | |
| X | g.108681763C>G | CA413851872 | COL4A5 | c.4091C>G (p.Pro1364Arg) c.4073C>G (p.Pro1358Arg) n.585C>G n.494C>G c.4082C>G (p.Pro1361Arg) c.3767C>G (p.Pro1256Arg) c.1664C>G (p.Pro555Arg) c.4106C>G (p.Pro1369Arg) c.4097C>G (p.Pro1366Arg) c.4088C>G (p.Pro1363Arg) c.2426C>G (p.Pro809Arg) | |
| X | g.108681763C>T | CA413851874 | COL4A5 | c.4091C>T (p.Pro1364Leu) c.4073C>T (p.Pro1358Leu) n.585C>T n.494C>T c.4082C>T (p.Pro1361Leu) c.3767C>T (p.Pro1256Leu) c.1664C>T (p.Pro555Leu) c.4106C>T (p.Pro1369Leu) c.4097C>T (p.Pro1366Leu) c.4088C>T (p.Pro1363Leu) c.2426C>T (p.Pro809Leu) | dbSNP |
| X | g.108681764T>A | CA517923787 | COL4A5 | c.4092T>A (p.Pro1364=) c.4074T>A (p.Pro1358=) n.586T>A n.495T>A c.4083T>A (p.Pro1361=) c.3768T>A (p.Pro1256=) c.1665T>A (p.Pro555=) c.4107T>A (p.Pro1369=) c.4098T>A (p.Pro1366=) c.4089T>A (p.Pro1363=) c.2427T>A (p.Pro809=) | |
| X | g.108681764T>C | CA517923788 | COL4A5 | c.4092T>C (p.Pro1364=) c.4074T>C (p.Pro1358=) n.586T>C n.495T>C c.4083T>C (p.Pro1361=) c.3768T>C (p.Pro1256=) c.1665T>C (p.Pro555=) c.4107T>C (p.Pro1369=) c.4098T>C (p.Pro1366=) c.4089T>C (p.Pro1363=) c.2427T>C (p.Pro809=) | ClinVar |
| X | g.108681764T>G | CA517923789 | COL4A5 | c.4092T>G (p.Pro1364=) c.4074T>G (p.Pro1358=) n.586T>G n.495T>G c.4083T>G (p.Pro1361=) c.3768T>G (p.Pro1256=) c.1665T>G (p.Pro555=) c.4107T>G (p.Pro1369=) c.4098T>G (p.Pro1366=) c.4089T>G (p.Pro1363=) c.2427T>G (p.Pro809=) | |
| X | g.108681765C>A | CA413851878 | COL4A5 | c.4093C>A (p.Pro1365Thr) c.4075C>A (p.Pro1359Thr) n.587C>A n.496C>A c.4084C>A (p.Pro1362Thr) c.3769C>A (p.Pro1257Thr) c.1666C>A (p.Pro556Thr) c.4108C>A (p.Pro1370Thr) c.4099C>A (p.Pro1367Thr) c.4090C>A (p.Pro1364Thr) c.2428C>A (p.Pro810Thr) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108681765C= | CA2450717217 | COL4A5 | c.4093C= (p.Pro1365=) c.4075C= (p.Pro1359=) n.587C= n.496C= c.4084C= (p.Pro1362=) c.3769C= (p.Pro1257=) c.1666C= (p.Pro556=) c.4108C= (p.Pro1370=) c.4099C= (p.Pro1367=) c.4090C= (p.Pro1364=) c.2428C= (p.Pro810=) | |
| X | g.108681765C>G | CA413851876 | COL4A5 | c.4093C>G (p.Pro1365Ala) c.4075C>G (p.Pro1359Ala) n.587C>G n.496C>G c.4084C>G (p.Pro1362Ala) c.3769C>G (p.Pro1257Ala) c.1666C>G (p.Pro556Ala) c.4108C>G (p.Pro1370Ala) c.4099C>G (p.Pro1367Ala) c.4090C>G (p.Pro1364Ala) c.2428C>G (p.Pro810Ala) | gnomAD v4 |
| X | g.108681765C>T | CA413851877 | COL4A5 | c.4093C>T (p.Pro1365Ser) c.4075C>T (p.Pro1359Ser) n.587C>T n.496C>T c.4084C>T (p.Pro1362Ser) c.3769C>T (p.Pro1257Ser) c.1666C>T (p.Pro556Ser) c.4108C>T (p.Pro1370Ser) c.4099C>T (p.Pro1367Ser) c.4090C>T (p.Pro1364Ser) c.2428C>T (p.Pro810Ser) | COSMIC COSMIC |
| X | g.108681766C>A | CA413851881 | COL4A5 | c.4094C>A (p.Pro1365His) c.4076C>A (p.Pro1359His) n.588C>A n.497C>A c.4085C>A (p.Pro1362His) c.3770C>A (p.Pro1257His) c.1667C>A (p.Pro556His) c.4109C>A (p.Pro1370His) c.4100C>A (p.Pro1367His) c.4091C>A (p.Pro1364His) c.2429C>A (p.Pro810His) | |
| X | g.108681766C>G | CA413851887 | COL4A5 | c.4094C>G (p.Pro1365Arg) c.4076C>G (p.Pro1359Arg) n.588C>G n.497C>G c.4085C>G (p.Pro1362Arg) c.3770C>G (p.Pro1257Arg) c.1667C>G (p.Pro556Arg) c.4109C>G (p.Pro1370Arg) c.4100C>G (p.Pro1367Arg) c.4091C>G (p.Pro1364Arg) c.2429C>G (p.Pro810Arg) | |
| X | g.108681766C>T | CA413851889 | COL4A5 | c.4094C>T (p.Pro1365Leu) c.4076C>T (p.Pro1359Leu) n.588C>T n.497C>T c.4085C>T (p.Pro1362Leu) c.3770C>T (p.Pro1257Leu) c.1667C>T (p.Pro556Leu) c.4109C>T (p.Pro1370Leu) c.4100C>T (p.Pro1367Leu) c.4091C>T (p.Pro1364Leu) c.2429C>T (p.Pro810Leu) | ClinVar |
| X | g.108681767T>A | CA517923790 | COL4A5 | c.4095T>A (p.Pro1365=) c.4077T>A (p.Pro1359=) n.589T>A n.498T>A c.4086T>A (p.Pro1362=) c.3771T>A (p.Pro1257=) c.1668T>A (p.Pro556=) c.4110T>A (p.Pro1370=) c.4101T>A (p.Pro1367=) c.4092T>A (p.Pro1364=) c.2430T>A (p.Pro810=) | |
| X | g.108681767T>C | CA517923791 | COL4A5 | c.4095T>C (p.Pro1365=) c.4077T>C (p.Pro1359=) n.589T>C n.498T>C c.4086T>C (p.Pro1362=) c.3771T>C (p.Pro1257=) c.1668T>C (p.Pro556=) c.4110T>C (p.Pro1370=) c.4101T>C (p.Pro1367=) c.4092T>C (p.Pro1364=) c.2430T>C (p.Pro810=) | |
| X | g.108681767T>G | CA517923792 | COL4A5 | c.4095T>G (p.Pro1365=) c.4077T>G (p.Pro1359=) n.589T>G n.498T>G c.4086T>G (p.Pro1362=) c.3771T>G (p.Pro1257=) c.1668T>G (p.Pro556=) c.4110T>G (p.Pro1370=) c.4101T>G (p.Pro1367=) c.4092T>G (p.Pro1364=) c.2430T>G (p.Pro810=) | |
| X | g.108681768G>A | CA413851891 | COL4A5 | c.4096G>A (p.Gly1366Arg) c.4078G>A (p.Gly1360Arg) n.590G>A n.499G>A c.4087G>A (p.Gly1363Arg) c.3772G>A (p.Gly1258Arg) c.1669G>A (p.Gly557Arg) c.4111G>A (p.Gly1371Arg) c.4102G>A (p.Gly1368Arg) c.4093G>A (p.Gly1365Arg) c.2431G>A (p.Gly811Arg) | |
| X | g.108681768G>C | CA413851893 | COL4A5 | c.4096G>C (p.Gly1366Arg) c.4078G>C (p.Gly1360Arg) n.590G>C n.499G>C c.4087G>C (p.Gly1363Arg) c.3772G>C (p.Gly1258Arg) c.1669G>C (p.Gly557Arg) c.4111G>C (p.Gly1371Arg) c.4102G>C (p.Gly1368Arg) c.4093G>C (p.Gly1365Arg) c.2431G>C (p.Gly811Arg) | |
| X | g.108681768G>T | CA413851895 | COL4A5 | c.4096G>T (p.Gly1366Ter) c.4078G>T (p.Gly1360Ter) n.590G>T n.499G>T c.4087G>T (p.Gly1363Ter) c.3772G>T (p.Gly1258Ter) c.1669G>T (p.Gly557Ter) c.4111G>T (p.Gly1371Ter) c.4102G>T (p.Gly1368Ter) c.4093G>T (p.Gly1365Ter) c.2431G>T (p.Gly811Ter) | |
| X | g.108681769G>A | CA413851896 | COL4A5 | c.4097G>A (p.Gly1366Glu) c.4079G>A (p.Gly1360Glu) n.591G>A n.500G>A c.4088G>A (p.Gly1363Glu) c.3773G>A (p.Gly1258Glu) c.1670G>A (p.Gly557Glu) c.4112G>A (p.Gly1371Glu) c.4103G>A (p.Gly1368Glu) c.4094G>A (p.Gly1365Glu) c.2432G>A (p.Gly811Glu) | gnomAD v4 |
| X | g.108681769G>C | CA413851898 | COL4A5 | c.4097G>C (p.Gly1366Ala) c.4079G>C (p.Gly1360Ala) n.591G>C n.500G>C c.4088G>C (p.Gly1363Ala) c.3773G>C (p.Gly1258Ala) c.1670G>C (p.Gly557Ala) c.4112G>C (p.Gly1371Ala) c.4103G>C (p.Gly1368Ala) c.4094G>C (p.Gly1365Ala) c.2432G>C (p.Gly811Ala) | |
| X | g.108681769G>T | CA413851900 | COL4A5 | c.4097G>T (p.Gly1366Val) c.4079G>T (p.Gly1360Val) n.591G>T n.500G>T c.4088G>T (p.Gly1363Val) c.3773G>T (p.Gly1258Val) c.1670G>T (p.Gly557Val) c.4112G>T (p.Gly1371Val) c.4103G>T (p.Gly1368Val) c.4094G>T (p.Gly1365Val) c.2432G>T (p.Gly811Val) | |
| X | g.108681769_108681770delinsTC | CA2580100211 | COL4A5 | c.4097_4098delinsTC (p.Gly1366Val) c.4079_4080delinsTC (p.Gly1360Val) n.591_592delinsTC n.500_501delinsTC c.4088_4089delinsTC (p.Gly1363Val) c.3773_3774delinsTC (p.Gly1258Val) c.1670_1671delinsTC (p.Gly557Val) c.4112_4113delinsTC (p.Gly1371Val) c.4103_4104delinsTC (p.Gly1368Val) c.4094_4095delinsTC (p.Gly1365Val) c.2432_2433delinsTC (p.Gly811Val) | ClinVar |
| X | g.108681770A= | CA2450717218 | COL4A5 | c.4098A= (p.Gly1366=) c.4080A= (p.Gly1360=) n.592A= n.501A= c.4089A= (p.Gly1363=) c.3774A= (p.Gly1258=) c.1671A= (p.Gly557=) c.4113A= (p.Gly1371=) c.4104A= (p.Gly1368=) c.4095A= (p.Gly1365=) c.2433A= (p.Gly811=) |