Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108687484_108687501dupCA2580100163COL4A5c.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
Xg.108687488_108687515delinsGTGGTTTGGATGGTCCCCCTGGTCCAGACA2450719203COL4A5c.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=)
Xg.108687489T>ACA517924397COL4A5c.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=)
Xg.108687489T>CCA517924398COL4A5c.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
Xg.108687489T>GCA517924400COL4A5c.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=)
Xg.108687492_108687518delCA334058980COL4A5c.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
Xg.108687490G>ACA413853935COL4A5c.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)
Xg.108687490G>CCA413853937COL4A5c.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)
Xg.108687490G>TCA413853938COL4A5c.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)
Xg.108687491G>ACA413853940COL4A5c.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
Xg.108687491G>CCA413853942COL4A5c.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)
Xg.108687491G>TCA413853944COL4A5c.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)
Xg.108687492T>ACA10489343COL4A5c.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
Xg.108687492T>CCA517924404COL4A5c.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=)
Xg.108687492T>GCA517924406COL4A5c.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=)
Xg.108687492T=CA2450719206COL4A5c.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=)
Xg.108687493T>ACA413853947COL4A5c.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)
Xg.108687493T>CCA517924407COL4A5c.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=)
Xg.108687493T>GCA413853946COL4A5c.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)
Xg.108687494T>ACA413853948COL4A5c.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)
Xg.108687494T>CCA413853949COL4A5c.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)
Xg.108687494T>GCA413853951COL4A5c.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)
Xg.108687495G>ACA517924410COL4A5c.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
Xg.108687495G>CCA413853953COL4A5c.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)
Xg.108687495G>TCA413853955COL4A5c.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)
Xg.108687496G>ACA413853957COL4A5c.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
Xg.108687496G>CCA413853959COL4A5c.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)
Xg.108687496G=CA2450719207COL4A5c.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=)
Xg.108687496G>TCA413853961COL4A5c.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)
Xg.108687497A>CCA413853963COL4A5c.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)
Xg.108687497A>GCA413853965COL4A5c.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)
Xg.108687497A>TCA413853967COL4A5c.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)
Xg.108687498T>ACA413853969COL4A5c.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)
Xg.108687498T>CCA517924415COL4A5c.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=)
Xg.108687498T>GCA413853970COL4A5c.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)
Xg.108687498T=CA2450719209COL4A5c.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=)
Xg.108687499G>ACA413853971COL4A5c.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)
Xg.108687499G>CCA413853972COL4A5c.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)
Xg.108687499G>TCA413853973COL4A5c.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)
Xg.108687510_108687545dupCA259023COL4A5c.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
Xg.108687500G>ACA413853975COL4A5c.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)
Xg.108687500G>CCA413853974COL4A5c.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)
Xg.108687500G=CA2450719211COL4A5c.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=)
Xg.108687500G>TCA10489344COL4A5c.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
Xg.108687501T>ACA517924420COL4A5c.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=)
Xg.108687501T>CCA517924419COL4A5c.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=)
Xg.108687501T>GCA517924418COL4A5c.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=)
Xg.108687502C>ACA413853976COL4A5c.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
Xg.108687502C=CA2450719213COL4A5c.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=)
Xg.108687502C>GCA334059022COL4A5c.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

Number of alleles fetched