Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108687484_108687501dup | CA2580100163 | COL4A5 | c.4318_4335dup c.4300_4317dup n.812_829dup c.114_131dup c.4309_4326dup c.3994_4011dup c.1891_1908dup c.4333_4350dup c.4324_4341dup c.4315_4332dup c.2653_2670dup | ClinVar |
X | g.108687488_108687515delinsGTGGTTTGGATGGTCCCCCTGGTCCAGA | CA2450719203 | COL4A5 | c.4322_4349delinsGTGGTTTGGATGGTCCCCCTGGTCCAGA (p.Arg1441=) c.4304_4331delinsGTGGTTTGGATGGTCCCCCTGGTCCAGA (p.Arg1435=) n.816_843delinsGTGGTTTGGATGGTCCCCCTGGTCCAGA c.118_145delinsGTGGTTTGGATGGTCCCCCTGGTCCAGA c.4313_4340delinsGTGGTTTGGATGGTCCCCCTGGTCCAGA (p.Arg1438=) c.3998_4025delinsGTGGTTTGGATGGTCCCCCTGGTCCAGA (p.Arg1333=) c.1895_1922delinsGTGGTTTGGATGGTCCCCCTGGTCCAGA (p.Arg632=) c.4337_4364delinsGTGGTTTGGATGGTCCCCCTGGTCCAGA (p.Arg1446=) c.4328_4355delinsGTGGTTTGGATGGTCCCCCTGGTCCAGA (p.Arg1443=) c.4319_4346delinsGTGGTTTGGATGGTCCCCCTGGTCCAGA (p.Arg1440=) c.2657_2684delinsGTGGTTTGGATGGTCCCCCTGGTCCAGA (p.Arg886=) | |
X | g.108687489T>A | CA517924397 | COL4A5 | c.4323T>A (p.Arg1441=) c.4305T>A (p.Arg1435=) n.817T>A n.726T>A c.119T>A c.4314T>A (p.Arg1438=) c.3999T>A (p.Arg1333=) c.1896T>A (p.Arg632=) c.4338T>A (p.Arg1446=) c.4329T>A (p.Arg1443=) c.4320T>A (p.Arg1440=) c.2658T>A (p.Arg886=) | |
X | g.108687489T>C | CA517924398 | COL4A5 | c.4323T>C (p.Arg1441=) c.4305T>C (p.Arg1435=) n.817T>C n.726T>C c.119T>C c.4314T>C (p.Arg1438=) c.3999T>C (p.Arg1333=) c.1896T>C (p.Arg632=) c.4338T>C (p.Arg1446=) c.4329T>C (p.Arg1443=) c.4320T>C (p.Arg1440=) c.2658T>C (p.Arg886=) | gnomAD v4 |
X | g.108687489T>G | CA517924400 | COL4A5 | c.4323T>G (p.Arg1441=) c.4305T>G (p.Arg1435=) n.817T>G n.726T>G c.119T>G c.4314T>G (p.Arg1438=) c.3999T>G (p.Arg1333=) c.1896T>G (p.Arg632=) c.4338T>G (p.Arg1446=) c.4329T>G (p.Arg1443=) c.4320T>G (p.Arg1440=) c.2658T>G (p.Arg886=) | |
X | g.108687492_108687518del | CA334058980 | COL4A5 | c.4326_4352del (p.Leu1443_Gly1451del) c.4308_4334del (p.Leu1437_Gly1445del) n.820_846del c.122_148del c.4317_4343del (p.Leu1440_Gly1448del) c.4002_4028del (p.Leu1335_Gly1343del) c.1899_1925del (p.Leu634_Gly642del) c.4341_4367del (p.Leu1448_Gly1456del) c.4332_4358del (p.Leu1445_Gly1453del) c.4323_4349del (p.Leu1442_Gly1450del) c.2661_2687del (p.Leu888_Gly896del) | dbSNP |
X | g.108687490G>A | CA413853935 | COL4A5 | c.4324G>A (p.Gly1442Ser) c.4306G>A (p.Gly1436Ser) n.818G>A n.727G>A c.120G>A c.4315G>A (p.Gly1439Ser) c.4000G>A (p.Gly1334Ser) c.1897G>A (p.Gly633Ser) c.4339G>A (p.Gly1447Ser) c.4330G>A (p.Gly1444Ser) c.4321G>A (p.Gly1441Ser) c.2659G>A (p.Gly887Ser) | |
X | g.108687490G>C | CA413853937 | COL4A5 | c.4324G>C (p.Gly1442Arg) c.4306G>C (p.Gly1436Arg) n.818G>C n.727G>C c.120G>C c.4315G>C (p.Gly1439Arg) c.4000G>C (p.Gly1334Arg) c.1897G>C (p.Gly633Arg) c.4339G>C (p.Gly1447Arg) c.4330G>C (p.Gly1444Arg) c.4321G>C (p.Gly1441Arg) c.2659G>C (p.Gly887Arg) | |
X | g.108687490G>T | CA413853938 | COL4A5 | c.4324G>T (p.Gly1442Cys) c.4306G>T (p.Gly1436Cys) n.818G>T n.727G>T c.120G>T c.4315G>T (p.Gly1439Cys) c.4000G>T (p.Gly1334Cys) c.1897G>T (p.Gly633Cys) c.4339G>T (p.Gly1447Cys) c.4330G>T (p.Gly1444Cys) c.4321G>T (p.Gly1441Cys) c.2659G>T (p.Gly887Cys) | |
X | g.108687491G>A | CA413853940 | COL4A5 | c.4325G>A (p.Gly1442Asp) c.4307G>A (p.Gly1436Asp) n.819G>A n.728G>A c.121G>A c.4316G>A (p.Gly1439Asp) c.4001G>A (p.Gly1334Asp) c.1898G>A (p.Gly633Asp) c.4340G>A (p.Gly1447Asp) c.4331G>A (p.Gly1444Asp) c.4322G>A (p.Gly1441Asp) c.2660G>A (p.Gly887Asp) | ClinVar dbSNP |
X | g.108687491G>C | CA413853942 | COL4A5 | c.4325G>C (p.Gly1442Ala) c.4307G>C (p.Gly1436Ala) n.819G>C n.728G>C c.121G>C c.4316G>C (p.Gly1439Ala) c.4001G>C (p.Gly1334Ala) c.1898G>C (p.Gly633Ala) c.4340G>C (p.Gly1447Ala) c.4331G>C (p.Gly1444Ala) c.4322G>C (p.Gly1441Ala) c.2660G>C (p.Gly887Ala) | |
X | g.108687491G>T | CA413853944 | COL4A5 | c.4325G>T (p.Gly1442Val) c.4307G>T (p.Gly1436Val) n.819G>T n.728G>T c.121G>T c.4316G>T (p.Gly1439Val) c.4001G>T (p.Gly1334Val) c.1898G>T (p.Gly633Val) c.4340G>T (p.Gly1447Val) c.4331G>T (p.Gly1444Val) c.4322G>T (p.Gly1441Val) c.2660G>T (p.Gly887Val) | |
X | g.108687492T>A | CA10489343 | COL4A5 | c.4326T>A (p.Gly1442=) c.4308T>A (p.Gly1436=) n.820T>A n.729T>A c.122T>A c.4317T>A (p.Gly1439=) c.4002T>A (p.Gly1334=) c.1899T>A (p.Gly633=) c.4341T>A (p.Gly1447=) c.4332T>A (p.Gly1444=) c.4323T>A (p.Gly1441=) c.2661T>A (p.Gly887=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108687492T>C | CA517924404 | COL4A5 | c.4326T>C (p.Gly1442=) c.4308T>C (p.Gly1436=) n.820T>C n.729T>C c.122T>C c.4317T>C (p.Gly1439=) c.4002T>C (p.Gly1334=) c.1899T>C (p.Gly633=) c.4341T>C (p.Gly1447=) c.4332T>C (p.Gly1444=) c.4323T>C (p.Gly1441=) c.2661T>C (p.Gly887=) | |
X | g.108687492T>G | CA517924406 | COL4A5 | c.4326T>G (p.Gly1442=) c.4308T>G (p.Gly1436=) n.820T>G n.729T>G c.122T>G c.4317T>G (p.Gly1439=) c.4002T>G (p.Gly1334=) c.1899T>G (p.Gly633=) c.4341T>G (p.Gly1447=) c.4332T>G (p.Gly1444=) c.4323T>G (p.Gly1441=) c.2661T>G (p.Gly887=) | |
X | g.108687492T= | CA2450719206 | COL4A5 | c.4326T= (p.Gly1442=) c.4308T= (p.Gly1436=) n.820T= n.729T= c.122T= c.4317T= (p.Gly1439=) c.4002T= (p.Gly1334=) c.1899T= (p.Gly633=) c.4341T= (p.Gly1447=) c.4332T= (p.Gly1444=) c.4323T= (p.Gly1441=) c.2661T= (p.Gly887=) | |
X | g.108687493T>A | CA413853947 | COL4A5 | c.4327T>A (p.Leu1443Met) c.4309T>A (p.Leu1437Met) n.821T>A n.730T>A c.123T>A c.4318T>A (p.Leu1440Met) c.4003T>A (p.Leu1335Met) c.1900T>A (p.Leu634Met) c.4342T>A (p.Leu1448Met) c.4333T>A (p.Leu1445Met) c.4324T>A (p.Leu1442Met) c.2662T>A (p.Leu888Met) | |
X | g.108687493T>C | CA517924407 | COL4A5 | c.4327T>C (p.Leu1443=) c.4309T>C (p.Leu1437=) n.821T>C n.730T>C c.123T>C c.4318T>C (p.Leu1440=) c.4003T>C (p.Leu1335=) c.1900T>C (p.Leu634=) c.4342T>C (p.Leu1448=) c.4333T>C (p.Leu1445=) c.4324T>C (p.Leu1442=) c.2662T>C (p.Leu888=) | |
X | g.108687493T>G | CA413853946 | COL4A5 | c.4327T>G (p.Leu1443Val) c.4309T>G (p.Leu1437Val) n.821T>G n.730T>G c.123T>G c.4318T>G (p.Leu1440Val) c.4003T>G (p.Leu1335Val) c.1900T>G (p.Leu634Val) c.4342T>G (p.Leu1448Val) c.4333T>G (p.Leu1445Val) c.4324T>G (p.Leu1442Val) c.2662T>G (p.Leu888Val) | |
X | g.108687494T>A | CA413853948 | COL4A5 | c.4328T>A (p.Leu1443Ter) c.4310T>A (p.Leu1437Ter) n.822T>A n.731T>A c.124T>A c.4319T>A (p.Leu1440Ter) c.4004T>A (p.Leu1335Ter) c.1901T>A (p.Leu634Ter) c.4343T>A (p.Leu1448Ter) c.4334T>A (p.Leu1445Ter) c.4325T>A (p.Leu1442Ter) c.2663T>A (p.Leu888Ter) | |
X | g.108687494T>C | CA413853949 | COL4A5 | c.4328T>C (p.Leu1443Ser) c.4310T>C (p.Leu1437Ser) n.822T>C n.731T>C c.124T>C c.4319T>C (p.Leu1440Ser) c.4004T>C (p.Leu1335Ser) c.1901T>C (p.Leu634Ser) c.4343T>C (p.Leu1448Ser) c.4334T>C (p.Leu1445Ser) c.4325T>C (p.Leu1442Ser) c.2663T>C (p.Leu888Ser) | |
X | g.108687494T>G | CA413853951 | COL4A5 | c.4328T>G (p.Leu1443Trp) c.4310T>G (p.Leu1437Trp) n.822T>G n.731T>G c.124T>G c.4319T>G (p.Leu1440Trp) c.4004T>G (p.Leu1335Trp) c.1901T>G (p.Leu634Trp) c.4343T>G (p.Leu1448Trp) c.4334T>G (p.Leu1445Trp) c.4325T>G (p.Leu1442Trp) c.2663T>G (p.Leu888Trp) | |
X | g.108687495G>A | CA517924410 | COL4A5 | c.4329G>A (p.Leu1443=) c.4311G>A (p.Leu1437=) n.823G>A n.732G>A c.125G>A c.4320G>A (p.Leu1440=) c.4005G>A (p.Leu1335=) c.1902G>A (p.Leu634=) c.4344G>A (p.Leu1448=) c.4335G>A (p.Leu1445=) c.4326G>A (p.Leu1442=) c.2664G>A (p.Leu888=) | gnomAD v4 |
X | g.108687495G>C | CA413853953 | COL4A5 | c.4329G>C (p.Leu1443Phe) c.4311G>C (p.Leu1437Phe) n.823G>C n.732G>C c.125G>C c.4320G>C (p.Leu1440Phe) c.4005G>C (p.Leu1335Phe) c.1902G>C (p.Leu634Phe) c.4344G>C (p.Leu1448Phe) c.4335G>C (p.Leu1445Phe) c.4326G>C (p.Leu1442Phe) c.2664G>C (p.Leu888Phe) | |
X | g.108687495G>T | CA413853955 | COL4A5 | c.4329G>T (p.Leu1443Phe) c.4311G>T (p.Leu1437Phe) n.823G>T n.732G>T c.125G>T c.4320G>T (p.Leu1440Phe) c.4005G>T (p.Leu1335Phe) c.1902G>T (p.Leu634Phe) c.4344G>T (p.Leu1448Phe) c.4335G>T (p.Leu1445Phe) c.4326G>T (p.Leu1442Phe) c.2664G>T (p.Leu888Phe) | |
X | g.108687496G>A | CA413853957 | COL4A5 | c.4330G>A (p.Asp1444Asn) c.4312G>A (p.Asp1438Asn) n.824G>A n.733G>A c.126G>A c.4321G>A (p.Asp1441Asn) c.4006G>A (p.Asp1336Asn) c.1903G>A (p.Asp635Asn) c.4345G>A (p.Asp1449Asn) c.4336G>A (p.Asp1446Asn) c.4327G>A (p.Asp1443Asn) c.2665G>A (p.Asp889Asn) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108687496G>C | CA413853959 | COL4A5 | c.4330G>C (p.Asp1444His) c.4312G>C (p.Asp1438His) n.824G>C n.733G>C c.126G>C c.4321G>C (p.Asp1441His) c.4006G>C (p.Asp1336His) c.1903G>C (p.Asp635His) c.4345G>C (p.Asp1449His) c.4336G>C (p.Asp1446His) c.4327G>C (p.Asp1443His) c.2665G>C (p.Asp889His) | |
X | g.108687496G= | CA2450719207 | COL4A5 | c.4330G= (p.Asp1444=) c.4312G= (p.Asp1438=) n.824G= n.733G= c.126G= c.4321G= (p.Asp1441=) c.4006G= (p.Asp1336=) c.1903G= (p.Asp635=) c.4345G= (p.Asp1449=) c.4336G= (p.Asp1446=) c.4327G= (p.Asp1443=) c.2665G= (p.Asp889=) | |
X | g.108687496G>T | CA413853961 | COL4A5 | c.4330G>T (p.Asp1444Tyr) c.4312G>T (p.Asp1438Tyr) n.824G>T n.733G>T c.126G>T c.4321G>T (p.Asp1441Tyr) c.4006G>T (p.Asp1336Tyr) c.1903G>T (p.Asp635Tyr) c.4345G>T (p.Asp1449Tyr) c.4336G>T (p.Asp1446Tyr) c.4327G>T (p.Asp1443Tyr) c.2665G>T (p.Asp889Tyr) | |
X | g.108687497A>C | CA413853963 | COL4A5 | c.4331A>C (p.Asp1444Ala) c.4313A>C (p.Asp1438Ala) n.825A>C n.734A>C c.127A>C c.4322A>C (p.Asp1441Ala) c.4007A>C (p.Asp1336Ala) c.1904A>C (p.Asp635Ala) c.4346A>C (p.Asp1449Ala) c.4337A>C (p.Asp1446Ala) c.4328A>C (p.Asp1443Ala) c.2666A>C (p.Asp889Ala) | |
X | g.108687497A>G | CA413853965 | COL4A5 | c.4331A>G (p.Asp1444Gly) c.4313A>G (p.Asp1438Gly) n.825A>G n.734A>G c.127A>G c.4322A>G (p.Asp1441Gly) c.4007A>G (p.Asp1336Gly) c.1904A>G (p.Asp635Gly) c.4346A>G (p.Asp1449Gly) c.4337A>G (p.Asp1446Gly) c.4328A>G (p.Asp1443Gly) c.2666A>G (p.Asp889Gly) | |
X | g.108687497A>T | CA413853967 | COL4A5 | c.4331A>T (p.Asp1444Val) c.4313A>T (p.Asp1438Val) n.825A>T n.734A>T c.127A>T c.4322A>T (p.Asp1441Val) c.4007A>T (p.Asp1336Val) c.1904A>T (p.Asp635Val) c.4346A>T (p.Asp1449Val) c.4337A>T (p.Asp1446Val) c.4328A>T (p.Asp1443Val) c.2666A>T (p.Asp889Val) | |
X | g.108687498T>A | CA413853969 | COL4A5 | c.4332T>A (p.Asp1444Glu) c.4314T>A (p.Asp1438Glu) n.826T>A n.735T>A c.128T>A c.4323T>A (p.Asp1441Glu) c.4008T>A (p.Asp1336Glu) c.1905T>A (p.Asp635Glu) c.4347T>A (p.Asp1449Glu) c.4338T>A (p.Asp1446Glu) c.4329T>A (p.Asp1443Glu) c.2667T>A (p.Asp889Glu) | |
X | g.108687498T>C | CA517924415 | COL4A5 | c.4332T>C (p.Asp1444=) c.4314T>C (p.Asp1438=) n.826T>C n.735T>C c.128T>C c.4323T>C (p.Asp1441=) c.4008T>C (p.Asp1336=) c.1905T>C (p.Asp635=) c.4347T>C (p.Asp1449=) c.4338T>C (p.Asp1446=) c.4329T>C (p.Asp1443=) c.2667T>C (p.Asp889=) | |
X | g.108687498T>G | CA413853970 | COL4A5 | c.4332T>G (p.Asp1444Glu) c.4314T>G (p.Asp1438Glu) n.826T>G n.735T>G c.128T>G c.4323T>G (p.Asp1441Glu) c.4008T>G (p.Asp1336Glu) c.1905T>G (p.Asp635Glu) c.4347T>G (p.Asp1449Glu) c.4338T>G (p.Asp1446Glu) c.4329T>G (p.Asp1443Glu) c.2667T>G (p.Asp889Glu) | |
X | g.108687498T= | CA2450719209 | COL4A5 | c.4332T= (p.Asp1444=) c.4314T= (p.Asp1438=) n.826T= n.735T= c.128T= c.4323T= (p.Asp1441=) c.4008T= (p.Asp1336=) c.1905T= (p.Asp635=) c.4347T= (p.Asp1449=) c.4338T= (p.Asp1446=) c.4329T= (p.Asp1443=) c.2667T= (p.Asp889=) | |
X | g.108687499G>A | CA413853971 | COL4A5 | c.4333G>A (p.Gly1445Ser) c.4315G>A (p.Gly1439Ser) n.827G>A n.736G>A c.129G>A c.4324G>A (p.Gly1442Ser) c.4009G>A (p.Gly1337Ser) c.1906G>A (p.Gly636Ser) c.4348G>A (p.Gly1450Ser) c.4339G>A (p.Gly1447Ser) c.4330G>A (p.Gly1444Ser) c.2668G>A (p.Gly890Ser) | |
X | g.108687499G>C | CA413853972 | COL4A5 | c.4333G>C (p.Gly1445Arg) c.4315G>C (p.Gly1439Arg) n.827G>C n.736G>C c.129G>C c.4324G>C (p.Gly1442Arg) c.4009G>C (p.Gly1337Arg) c.1906G>C (p.Gly636Arg) c.4348G>C (p.Gly1450Arg) c.4339G>C (p.Gly1447Arg) c.4330G>C (p.Gly1444Arg) c.2668G>C (p.Gly890Arg) | |
X | g.108687499G>T | CA413853973 | COL4A5 | c.4333G>T (p.Gly1445Cys) c.4315G>T (p.Gly1439Cys) n.827G>T n.736G>T c.129G>T c.4324G>T (p.Gly1442Cys) c.4009G>T (p.Gly1337Cys) c.1906G>T (p.Gly636Cys) c.4348G>T (p.Gly1450Cys) c.4339G>T (p.Gly1447Cys) c.4330G>T (p.Gly1444Cys) c.2668G>T (p.Gly890Cys) | |
X | g.108687510_108687545dup | CA259023 | COL4A5 | c.4344_4379dup (p.Gly1460_Thr1461insProAspGlyLeuGlnGlyProProGlyProProGly) c.4326_4361dup (p.Gly1454_Thr1455insProAspGlyLeuGlnGlyProProGlyProProGly) n.838_873dup c.140_175dup c.4335_4370dup (p.Gly1457_Thr1458insProAspGlyLeuGlnGlyProProGlyProProGly) c.4020_4055dup (p.Gly1352_Thr1353insProAspGlyLeuGlnGlyProProGlyProProGly) c.1917_1952dup (p.Gly651_Thr652insProAspGlyLeuGlnGlyProProGlyProProGly) c.4359_4394dup (p.Gly1465_Thr1466insProAspGlyLeuGlnGlyProProGlyProProGly) c.4350_4385dup (p.Gly1462_Thr1463insProAspGlyLeuGlnGlyProProGlyProProGly) c.4341_4376dup (p.Gly1459_Thr1460insProAspGlyLeuGlnGlyProProGlyProProGly) c.2679_2714dup (p.Gly905_Thr906insProAspGlyLeuGlnGlyProProGlyProProGly) | dbSNP |
X | g.108687500G>A | CA413853975 | COL4A5 | c.4334G>A (p.Gly1445Asp) c.4316G>A (p.Gly1439Asp) n.828G>A n.737G>A c.130G>A c.4325G>A (p.Gly1442Asp) c.4010G>A (p.Gly1337Asp) c.1907G>A (p.Gly636Asp) c.4349G>A (p.Gly1450Asp) c.4340G>A (p.Gly1447Asp) c.4331G>A (p.Gly1444Asp) c.2669G>A (p.Gly890Asp) | |
X | g.108687500G>C | CA413853974 | COL4A5 | c.4334G>C (p.Gly1445Ala) c.4316G>C (p.Gly1439Ala) n.828G>C n.737G>C c.130G>C c.4325G>C (p.Gly1442Ala) c.4010G>C (p.Gly1337Ala) c.1907G>C (p.Gly636Ala) c.4349G>C (p.Gly1450Ala) c.4340G>C (p.Gly1447Ala) c.4331G>C (p.Gly1444Ala) c.2669G>C (p.Gly890Ala) | |
X | g.108687500G= | CA2450719211 | COL4A5 | c.4334G= (p.Gly1445=) c.4316G= (p.Gly1439=) n.828G= n.737G= c.130G= c.4325G= (p.Gly1442=) c.4010G= (p.Gly1337=) c.1907G= (p.Gly636=) c.4349G= (p.Gly1450=) c.4340G= (p.Gly1447=) c.4331G= (p.Gly1444=) c.2669G= (p.Gly890=) | |
X | g.108687500G>T | CA10489344 | COL4A5 | c.4334G>T (p.Gly1445Val) c.4316G>T (p.Gly1439Val) n.828G>T n.737G>T c.130G>T c.4325G>T (p.Gly1442Val) c.4010G>T (p.Gly1337Val) c.1907G>T (p.Gly636Val) c.4349G>T (p.Gly1450Val) c.4340G>T (p.Gly1447Val) c.4331G>T (p.Gly1444Val) c.2669G>T (p.Gly890Val) | dbSNP ExAC |
X | g.108687501T>A | CA517924420 | COL4A5 | c.4335T>A (p.Gly1445=) c.4317T>A (p.Gly1439=) n.829T>A c.131T>A c.4326T>A (p.Gly1442=) c.4011T>A (p.Gly1337=) c.1908T>A (p.Gly636=) c.4350T>A (p.Gly1450=) c.4341T>A (p.Gly1447=) c.4332T>A (p.Gly1444=) c.2670T>A (p.Gly890=) | |
X | g.108687501T>C | CA517924419 | COL4A5 | c.4335T>C (p.Gly1445=) c.4317T>C (p.Gly1439=) n.829T>C c.131T>C c.4326T>C (p.Gly1442=) c.4011T>C (p.Gly1337=) c.1908T>C (p.Gly636=) c.4350T>C (p.Gly1450=) c.4341T>C (p.Gly1447=) c.4332T>C (p.Gly1444=) c.2670T>C (p.Gly890=) | |
X | g.108687501T>G | CA517924418 | COL4A5 | c.4335T>G (p.Gly1445=) c.4317T>G (p.Gly1439=) n.829T>G c.131T>G c.4326T>G (p.Gly1442=) c.4011T>G (p.Gly1337=) c.1908T>G (p.Gly636=) c.4350T>G (p.Gly1450=) c.4341T>G (p.Gly1447=) c.4332T>G (p.Gly1444=) c.2670T>G (p.Gly890=) | |
X | g.108687502C>A | CA413853976 | COL4A5 | c.4336C>A (p.Pro1446Thr) c.4318C>A (p.Pro1440Thr) n.830C>A c.132C>A c.4327C>A (p.Pro1443Thr) c.4012C>A (p.Pro1338Thr) c.1909C>A (p.Pro637Thr) c.4351C>A (p.Pro1451Thr) c.4342C>A (p.Pro1448Thr) c.4333C>A (p.Pro1445Thr) c.2671C>A (p.Pro891Thr) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108687502C= | CA2450719213 | COL4A5 | c.4336C= (p.Pro1446=) c.4318C= (p.Pro1440=) n.830C= c.132C= c.4327C= (p.Pro1443=) c.4012C= (p.Pro1338=) c.1909C= (p.Pro637=) c.4351C= (p.Pro1451=) c.4342C= (p.Pro1448=) c.4333C= (p.Pro1445=) c.2671C= (p.Pro891=) | |
X | g.108687502C>G | CA334059022 | COL4A5 | c.4336C>G (p.Pro1446Ala) c.4318C>G (p.Pro1440Ala) n.830C>G c.132C>G c.4327C>G (p.Pro1443Ala) c.4012C>G (p.Pro1338Ala) c.1909C>G (p.Pro637Ala) c.4351C>G (p.Pro1451Ala) c.4342C>G (p.Pro1448Ala) c.4333C>G (p.Pro1445Ala) c.2671C>G (p.Pro891Ala) | dbSNP |