Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108666546_108666553delCA517922363COL4A5c.3505_3512del (p.Pro1169ArgfsTer12)
c.3181_3188del (p.Pro1061ArgfsTer12)
c.1078_1085del (p.Pro360ArgfsTer12)
c.3520_3527del (p.Pro1174ArgfsTer12)
c.1840_1847del (p.Pro614ArgfsTer12)
Xg.108666546C>ACA413847764COL4A5c.3505C>A (p.Pro1169Thr)
c.3181C>A (p.Pro1061Thr)
c.1078C>A (p.Pro360Thr)
c.3520C>A (p.Pro1174Thr)
c.1840C>A (p.Pro614Thr)
 gnomAD v4
Xg.108666546C>GCA413847765COL4A5c.3505C>G (p.Pro1169Ala)
c.3181C>G (p.Pro1061Ala)
c.1078C>G (p.Pro360Ala)
c.3520C>G (p.Pro1174Ala)
c.1840C>G (p.Pro614Ala)
Xg.108666546C>TCA413847766COL4A5c.3505C>T (p.Pro1169Ser)
c.3181C>T (p.Pro1061Ser)
c.1078C>T (p.Pro360Ser)
c.3520C>T (p.Pro1174Ser)
c.1840C>T (p.Pro614Ser)
 gnomAD v4
Xg.108666547C>ACA413847767COL4A5c.3506C>A (p.Pro1169His)
c.3182C>A (p.Pro1061His)
c.1079C>A (p.Pro360His)
c.3521C>A (p.Pro1174His)
c.1841C>A (p.Pro614His)
 gnomAD v4
Xg.108666547C>GCA413847768COL4A5c.3506C>G (p.Pro1169Arg)
c.3182C>G (p.Pro1061Arg)
c.1079C>G (p.Pro360Arg)
c.3521C>G (p.Pro1174Arg)
c.1841C>G (p.Pro614Arg)
Xg.108666547C>TCA413847769COL4A5c.3506C>T (p.Pro1169Leu)
c.3182C>T (p.Pro1061Leu)
c.1079C>T (p.Pro360Leu)
c.3521C>T (p.Pro1174Leu)
c.1841C>T (p.Pro614Leu)
Xg.108666548C>ACA517922367COL4A5c.3507C>A (p.Pro1169=)
c.3183C>A (p.Pro1061=)
c.1080C>A (p.Pro360=)
c.3522C>A (p.Pro1174=)
c.1842C>A (p.Pro614=)
Xg.108666548C=CA2450712335COL4A5c.3507C= (p.Pro1169=)
c.3183C= (p.Pro1061=)
c.1080C= (p.Pro360=)
c.3522C= (p.Pro1174=)
c.1842C= (p.Pro614=)
Xg.108666548C>GCA517922368COL4A5c.3507C>G (p.Pro1169=)
c.3183C>G (p.Pro1061=)
c.1080C>G (p.Pro360=)
c.3522C>G (p.Pro1174=)
c.1842C>G (p.Pro614=)
 ClinVar
Xg.108666548C>TCA10489124COL4A5c.3507C>T (p.Pro1169=)
c.3183C>T (p.Pro1061=)
c.1080C>T (p.Pro360=)
c.3522C>T (p.Pro1174=)
c.1842C>T (p.Pro614=)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
Xg.108666548_108666549delinsCGCA2450712334COL4A5c.3507_3508delinsCG (p.Pro1169=)
c.3183_3184delinsCG (p.Pro1061=)
c.1080_1081delinsCG (p.Pro360=)
c.3522_3523delinsCG (p.Pro1174=)
c.1842_1843delinsCG (p.Pro614=)
Xg.108666549G>ACA258878COL4A5c.3508G>A (p.Gly1170Ser)
c.3184G>A (p.Gly1062Ser)
c.1081G>A (p.Gly361Ser)
c.3523G>A (p.Gly1175Ser)
c.1843G>A (p.Gly615Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108666549G>CCA413847770COL4A5c.3508G>C (p.Gly1170Arg)
c.3184G>C (p.Gly1062Arg)
c.1081G>C (p.Gly361Arg)
c.3523G>C (p.Gly1175Arg)
c.1843G>C (p.Gly615Arg)
 ClinVar dbSNP
Xg.108666549G=CA2450712336COL4A5c.3508G= (p.Gly1170=)
c.3184G= (p.Gly1062=)
c.1081G= (p.Gly361=)
c.3523G= (p.Gly1175=)
c.1843G= (p.Gly615=)
Xg.108666549G>TCA413847771COL4A5c.3508G>T (p.Gly1170Cys)
c.3184G>T (p.Gly1062Cys)
c.1081G>T (p.Gly361Cys)
c.3523G>T (p.Gly1175Cys)
c.1843G>T (p.Gly615Cys)
 ClinVar dbSNP gnomAD v4
Xg.108666550delCA258880COL4A5c.3509del (p.Gly1170ValfsTer?)
c.3185del (p.Gly1062ValfsTer?)
c.1082del (p.Gly361ValfsTer?)
c.3524del (p.Gly1175ValfsTer?)
c.1844del (p.Gly615ValfsTer?)
 dbSNP
Xg.108666550G>ACA16609464COL4A5c.3509G>A (p.Gly1170Asp)
c.3185G>A (p.Gly1062Asp)
c.1082G>A (p.Gly361Asp)
c.3524G>A (p.Gly1175Asp)
c.1844G>A (p.Gly615Asp)
 ClinVar dbSNP
Xg.108666550G>CCA413847773COL4A5c.3509G>C (p.Gly1170Ala)
c.3185G>C (p.Gly1062Ala)
c.1082G>C (p.Gly361Ala)
c.3524G>C (p.Gly1175Ala)
c.1844G>C (p.Gly615Ala)
Xg.108666550G=CA2450712337COL4A5c.3509G= (p.Gly1170=)
c.3185G= (p.Gly1062=)
c.1082G= (p.Gly361=)
c.3524G= (p.Gly1175=)
c.1844G= (p.Gly615=)
Xg.108666550G>TCA413847772COL4A5c.3509G>T (p.Gly1170Val)
c.3185G>T (p.Gly1062Val)
c.1082G>T (p.Gly361Val)
c.3524G>T (p.Gly1175Val)
c.1844G>T (p.Gly615Val)
 ClinVar
Xg.108666551T>ACA517922372COL4A5c.3510T>A (p.Gly1170=)
c.3186T>A (p.Gly1062=)
c.1083T>A (p.Gly361=)
c.3525T>A (p.Gly1175=)
c.1845T>A (p.Gly615=)
Xg.108666551T>CCA517922373COL4A5c.3510T>C (p.Gly1170=)
c.3186T>C (p.Gly1062=)
c.1083T>C (p.Gly361=)
c.3525T>C (p.Gly1175=)
c.1845T>C (p.Gly615=)
Xg.108666551T>GCA517922374COL4A5c.3510T>G (p.Gly1170=)
c.3186T>G (p.Gly1062=)
c.1083T>G (p.Gly361=)
c.3525T>G (p.Gly1175=)
c.1845T>G (p.Gly615=)
Xg.108666552C>ACA413847774COL4A5c.3511C>A (p.Gln1171Lys)
c.3187C>A (p.Gln1063Lys)
c.1084C>A (p.Gln362Lys)
c.3526C>A (p.Gln1176Lys)
c.1846C>A (p.Gln616Lys)
 COSMIC COSMIC
Xg.108666552C=CA2450712338COL4A5c.3511C= (p.Gln1171=)
c.3187C= (p.Gln1063=)
c.1084C= (p.Gln362=)
c.3526C= (p.Gln1176=)
c.1846C= (p.Gln616=)
Xg.108666552C>GCA413847775COL4A5c.3511C>G (p.Gln1171Glu)
c.3187C>G (p.Gln1063Glu)
c.1084C>G (p.Gln362Glu)
c.3526C>G (p.Gln1176Glu)
c.1846C>G (p.Gln616Glu)
 COSMIC COSMIC
Xg.108666552C>TCA413847776COL4A5c.3511C>T (p.Gln1171Ter)
c.3187C>T (p.Gln1063Ter)
c.1084C>T (p.Gln362Ter)
c.3526C>T (p.Gln1176Ter)
c.1846C>T (p.Gln616Ter)
 ClinVar dbSNP
Xg.108666553A>CCA413847777COL4A5c.3512A>C (p.Gln1171Pro)
c.3188A>C (p.Gln1063Pro)
c.1085A>C (p.Gln362Pro)
c.3527A>C (p.Gln1176Pro)
c.1847A>C (p.Gln616Pro)
Xg.108666553A>GCA413847778COL4A5c.3512A>G (p.Gln1171Arg)
c.3188A>G (p.Gln1063Arg)
c.1085A>G (p.Gln362Arg)
c.3527A>G (p.Gln1176Arg)
c.1847A>G (p.Gln616Arg)
Xg.108666553A>TCA413847779COL4A5c.3512A>T (p.Gln1171Leu)
c.3188A>T (p.Gln1063Leu)
c.1085A>T (p.Gln362Leu)
c.3527A>T (p.Gln1176Leu)
c.1847A>T (p.Gln616Leu)
Xg.108666554A=CA2450712339COL4A5c.3513A= (p.Gln1171=)
c.3189A= (p.Gln1063=)
c.1086A= (p.Gln362=)
c.3528A= (p.Gln1176=)
c.1848A= (p.Gln616=)
Xg.108666554A>CCA413847780COL4A5c.3513A>C (p.Gln1171His)
c.3189A>C (p.Gln1063His)
c.1086A>C (p.Gln362His)
c.3528A>C (p.Gln1176His)
c.1848A>C (p.Gln616His)
Xg.108666554A>GCA258881COL4A5c.3513A>G (p.Gln1171=)
c.3189A>G (p.Gln1063=)
c.1086A>G (p.Gln362=)
c.3528A>G (p.Gln1176=)
c.1848A>G (p.Gln616=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.108666554A>TCA413847781COL4A5c.3513A>T (p.Gln1171His)
c.3189A>T (p.Gln1063His)
c.1086A>T (p.Gln362His)
c.3528A>T (p.Gln1176His)
c.1848A>T (p.Gln616His)
Xg.108666555G>ACA413847782COL4A5c.3514G>A (p.Asp1172Asn)
c.3190G>A (p.Asp1064Asn)
c.1087G>A (p.Asp363Asn)
c.3529G>A (p.Asp1177Asn)
c.1849G>A (p.Asp617Asn)
Xg.108666555G>CCA413847783COL4A5c.3514G>C (p.Asp1172His)
c.3190G>C (p.Asp1064His)
c.1087G>C (p.Asp363His)
c.3529G>C (p.Asp1177His)
c.1849G>C (p.Asp617His)
Xg.108666555G>TCA413847784COL4A5c.3514G>T (p.Asp1172Tyr)
c.3190G>T (p.Asp1064Tyr)
c.1087G>T (p.Asp363Tyr)
c.3529G>T (p.Asp1177Tyr)
c.1849G>T (p.Asp617Tyr)
Xg.108666556A=CA2450712340COL4A5c.3515A= (p.Asp1172=)
c.3191A= (p.Asp1064=)
c.1088A= (p.Asp363=)
c.3530A= (p.Asp1177=)
c.1850A= (p.Asp617=)
Xg.108666556A>CCA413847786COL4A5c.3515A>C (p.Asp1172Ala)
c.3191A>C (p.Asp1064Ala)
c.1088A>C (p.Asp363Ala)
c.3530A>C (p.Asp1177Ala)
c.1850A>C (p.Asp617Ala)
Xg.108666556A>GCA413847787COL4A5c.3515A>G (p.Asp1172Gly)
c.3191A>G (p.Asp1064Gly)
c.1088A>G (p.Asp363Gly)
c.3530A>G (p.Asp1177Gly)
c.1850A>G (p.Asp617Gly)
 dbSNP
Xg.108666556A>TCA413847785COL4A5c.3515A>T (p.Asp1172Val)
c.3191A>T (p.Asp1064Val)
c.1088A>T (p.Asp363Val)
c.3530A>T (p.Asp1177Val)
c.1850A>T (p.Asp617Val)
Xg.108666557delCA517922383COL4A5c.3516del (p.Asp1172GlufsTer?)
c.3192del (p.Asp1064GlufsTer?)
c.1089del (p.Asp363GlufsTer?)
c.3531del (p.Asp1177GlufsTer?)
c.1851del (p.Asp617GlufsTer?)
Xg.108666557T>ACA413847788COL4A5c.3516T>A (p.Asp1172Glu)
c.3192T>A (p.Asp1064Glu)
c.1089T>A (p.Asp363Glu)
c.3531T>A (p.Asp1177Glu)
c.1851T>A (p.Asp617Glu)
 gnomAD v4
Xg.108666557T>CCA517922379COL4A5c.3516T>C (p.Asp1172=)
c.3192T>C (p.Asp1064=)
c.1089T>C (p.Asp363=)
c.3531T>C (p.Asp1177=)
c.1851T>C (p.Asp617=)
Xg.108666557T>GCA413847789COL4A5c.3516T>G (p.Asp1172Glu)
c.3192T>G (p.Asp1064Glu)
c.1089T>G (p.Asp363Glu)
c.3531T>G (p.Asp1177Glu)
c.1851T>G (p.Asp617Glu)
Xg.108666558G>ACA413847790COL4A5c.3517G>A (p.Gly1173Ser)
c.3193G>A (p.Gly1065Ser)
c.1090G>A (p.Gly364Ser)
c.3532G>A (p.Gly1178Ser)
c.1852G>A (p.Gly618Ser)
Xg.108666558G>CCA413847791COL4A5c.3517G>C (p.Gly1173Arg)
c.3193G>C (p.Gly1065Arg)
c.1090G>C (p.Gly364Arg)
c.3532G>C (p.Gly1178Arg)
c.1852G>C (p.Gly618Arg)
Xg.108666558G>TCA413847792COL4A5c.3517G>T (p.Gly1173Cys)
c.3193G>T (p.Gly1065Cys)
c.1090G>T (p.Gly364Cys)
c.3532G>T (p.Gly1178Cys)
c.1852G>T (p.Gly618Cys)
Xg.108666559G>ACA413847793COL4A5c.3518G>A (p.Gly1173Asp)
c.3194G>A (p.Gly1065Asp)
c.1091G>A (p.Gly364Asp)
c.3533G>A (p.Gly1178Asp)
c.1853G>A (p.Gly618Asp)
Xg.108666559G>CCA413847794COL4A5c.3518G>C (p.Gly1173Ala)
c.3194G>C (p.Gly1065Ala)
c.1091G>C (p.Gly364Ala)
c.3533G>C (p.Gly1178Ala)
c.1853G>C (p.Gly618Ala)
Xg.108666559G>TCA413847795COL4A5c.3518G>T (p.Gly1173Val)
c.3194G>T (p.Gly1065Val)
c.1091G>T (p.Gly364Val)
c.3533G>T (p.Gly1178Val)
c.1853G>T (p.Gly618Val)
Xg.108666560T>ACA517922386COL4A5c.3519T>A (p.Gly1173=)
c.3195T>A (p.Gly1065=)
c.1092T>A (p.Gly364=)
c.3534T>A (p.Gly1178=)
c.1854T>A (p.Gly618=)
Xg.108666560T>CCA517922388COL4A5c.3519T>C (p.Gly1173=)
c.3195T>C (p.Gly1065=)
c.1092T>C (p.Gly364=)
c.3534T>C (p.Gly1178=)
c.1854T>C (p.Gly618=)
Xg.108666560T>GCA10489125COL4A5c.3519T>G (p.Gly1173=)
c.3195T>G (p.Gly1065=)
c.1092T>G (p.Gly364=)
c.3534T>G (p.Gly1178=)
c.1854T>G (p.Gly618=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108666560T=CA2450712341COL4A5c.3519T= (p.Gly1173=)
c.3195T= (p.Gly1065=)
c.1092T= (p.Gly364=)
c.3534T= (p.Gly1178=)
c.1854T= (p.Gly618=)
Xg.108666560_108666561insTTTCA517922384COL4A5c.3519_3520insTTT (p.Gly1173_Ile1174insPhe)
c.3195_3196insTTT (p.Gly1065_Ile1066insPhe)
c.1092_1093insTTT (p.Gly364_Ile365insPhe)
c.3534_3535insTTT (p.Gly1178_Ile1179insPhe)
c.1854_1855insTTT (p.Gly618_Ile619insPhe)
Xg.108666561A>CCA413847796COL4A5c.3520A>C (p.Ile1174Leu)
c.3196A>C (p.Ile1066Leu)
c.1093A>C (p.Ile365Leu)
c.3535A>C (p.Ile1179Leu)
c.1855A>C (p.Ile619Leu)
Xg.108666561A>GCA413847798COL4A5c.3520A>G (p.Ile1174Val)
c.3196A>G (p.Ile1066Val)
c.1093A>G (p.Ile365Val)
c.3535A>G (p.Ile1179Val)
c.1855A>G (p.Ile619Val)
Xg.108666561A>TCA413847797COL4A5c.3520A>T (p.Ile1174Phe)
c.3196A>T (p.Ile1066Phe)
c.1093A>T (p.Ile365Phe)
c.3535A>T (p.Ile1179Phe)
c.1855A>T (p.Ile619Phe)
Xg.108666562T>ACA413847799COL4A5c.3521T>A (p.Ile1174Asn)
c.3197T>A (p.Ile1066Asn)
c.1094T>A (p.Ile365Asn)
c.3536T>A (p.Ile1179Asn)
c.1856T>A (p.Ile619Asn)
Xg.108666562T>CCA413847800COL4A5c.3521T>C (p.Ile1174Thr)
c.3197T>C (p.Ile1066Thr)
c.1094T>C (p.Ile365Thr)
c.3536T>C (p.Ile1179Thr)
c.1856T>C (p.Ile619Thr)
Xg.108666562T>GCA413847801COL4A5c.3521T>G (p.Ile1174Ser)
c.3197T>G (p.Ile1066Ser)
c.1094T>G (p.Ile365Ser)
c.3536T>G (p.Ile1179Ser)
c.1856T>G (p.Ile619Ser)
Xg.108666563T>ACA517922394COL4A5c.3522T>A (p.Ile1174=)
c.3198T>A (p.Ile1066=)
c.1095T>A (p.Ile365=)
c.3537T>A (p.Ile1179=)
c.1857T>A (p.Ile619=)
Xg.108666563T>CCA517922392COL4A5c.3522T>C (p.Ile1174=)
c.3198T>C (p.Ile1066=)
c.1095T>C (p.Ile365=)
c.3537T>C (p.Ile1179=)
c.1857T>C (p.Ile619=)
Xg.108666563T>GCA413847802COL4A5c.3522T>G (p.Ile1174Met)
c.3198T>G (p.Ile1066Met)
c.1095T>G (p.Ile365Met)
c.3537T>G (p.Ile1179Met)
c.1857T>G (p.Ile619Met)
Xg.108666564C>ACA413847808COL4A5c.3523C>A (p.Pro1175Thr)
c.3199C>A (p.Pro1067Thr)
c.1096C>A (p.Pro366Thr)
c.3538C>A (p.Pro1180Thr)
c.1858C>A (p.Pro620Thr)
 gnomAD v4
Xg.108666564C>GCA413847805COL4A5c.3523C>G (p.Pro1175Ala)
c.3199C>G (p.Pro1067Ala)
c.1096C>G (p.Pro366Ala)
c.3538C>G (p.Pro1180Ala)
c.1858C>G (p.Pro620Ala)
Xg.108666564C>TCA413847806COL4A5c.3523C>T (p.Pro1175Ser)
c.3199C>T (p.Pro1067Ser)
c.1096C>T (p.Pro366Ser)
c.3538C>T (p.Pro1180Ser)
c.1858C>T (p.Pro620Ser)
 gnomAD v4 COSMIC
Xg.108666565C>ACA413847810COL4A5c.3524C>A (p.Pro1175His)
c.3200C>A (p.Pro1067His)
c.1097C>A (p.Pro366His)
c.3539C>A (p.Pro1180His)
c.1859C>A (p.Pro620His)
Xg.108666565C>GCA413847811COL4A5c.3524C>G (p.Pro1175Arg)
c.3200C>G (p.Pro1067Arg)
c.1097C>G (p.Pro366Arg)
c.3539C>G (p.Pro1180Arg)
c.1859C>G (p.Pro620Arg)
Xg.108666565C>TCA413847812COL4A5c.3524C>T (p.Pro1175Leu)
c.3200C>T (p.Pro1067Leu)
c.1097C>T (p.Pro366Leu)
c.3539C>T (p.Pro1180Leu)
c.1859C>T (p.Pro620Leu)
Xg.108666566_108666570dupCA2695235647COL4A5c.3525_3529dup (p.Pro1177LeufsTer?)
c.3201_3205dup (p.Pro1069LeufsTer?)
c.1098_1102dup (p.Pro368LeufsTer?)
c.3540_3544dup (p.Pro1182LeufsTer?)
c.1860_1864dup (p.Pro622LeufsTer?)
Xg.108666566T>ACA517922395COL4A5c.3525T>A (p.Pro1175=)
c.3201T>A (p.Pro1067=)
c.1098T>A (p.Pro366=)
c.3540T>A (p.Pro1180=)
c.1860T>A (p.Pro620=)
Xg.108666566T>CCA517922396COL4A5c.3525T>C (p.Pro1175=)
c.3201T>C (p.Pro1067=)
c.1098T>C (p.Pro366=)
c.3540T>C (p.Pro1180=)
c.1860T>C (p.Pro620=)
Xg.108666566T>GCA517922398COL4A5c.3525T>G (p.Pro1175=)
c.3201T>G (p.Pro1067=)
c.1098T>G (p.Pro366=)
c.3540T>G (p.Pro1180=)
c.1860T>G (p.Pro620=)
Xg.108666566_108666567delinsTGCA2450712342COL4A5c.3525_3526delinsTG (p.Pro1175=)
c.3201_3202delinsTG (p.Pro1067=)
c.1098_1099delinsTG (p.Pro366=)
c.3540_3541delinsTG (p.Pro1180=)
c.1860_1861delinsTG (p.Pro620=)
Xg.108666567G>ACA413847815COL4A5c.3526G>A (p.Gly1176Arg)
c.3202G>A (p.Gly1068Arg)
c.1099G>A (p.Gly367Arg)
c.3541G>A (p.Gly1181Arg)
c.1861G>A (p.Gly621Arg)
 ClinVar
Xg.108666567G>CCA413847817COL4A5c.3526G>C (p.Gly1176Arg)
c.3202G>C (p.Gly1068Arg)
c.1099G>C (p.Gly367Arg)
c.3541G>C (p.Gly1181Arg)
c.1861G>C (p.Gly621Arg)
Xg.108666567G=CA2450712343COL4A5c.3526G= (p.Gly1176=)
c.3202G= (p.Gly1068=)
c.1099G= (p.Gly367=)
c.3541G= (p.Gly1181=)
c.1861G= (p.Gly621=)
Xg.108666567G>TCA413847818COL4A5c.3526G>T (p.Gly1176Ter)
c.3202G>T (p.Gly1068Ter)
c.1099G>T (p.Gly367Ter)
c.3541G>T (p.Gly1181Ter)
c.1861G>T (p.Gly621Ter)
Xg.108666568delCA258884COL4A5c.3527del (p.Gly1176AspfsTer?)
c.3203del (p.Gly1068AspfsTer?)
c.1100del (p.Gly367AspfsTer?)
c.3542del (p.Gly1181AspfsTer?)
c.1862del (p.Gly621AspfsTer?)
 dbSNP
Xg.108666568G>ACA10604411COL4A5c.3527G>A (p.Gly1176Glu)
c.3203G>A (p.Gly1068Glu)
c.1100G>A (p.Gly367Glu)
c.3542G>A (p.Gly1181Glu)
c.1862G>A (p.Gly621Glu)
 ClinVar dbSNP
Xg.108666568G>CCA413847823COL4A5c.3527G>C (p.Gly1176Ala)
c.3203G>C (p.Gly1068Ala)
c.1100G>C (p.Gly367Ala)
c.3542G>C (p.Gly1181Ala)
c.1862G>C (p.Gly621Ala)
Xg.108666568G=CA2450712344COL4A5c.3527G= (p.Gly1176=)
c.3203G= (p.Gly1068=)
c.1100G= (p.Gly367=)
c.3542G= (p.Gly1181=)
c.1862G= (p.Gly621=)
Xg.108666568G>TCA413847824COL4A5c.3527G>T (p.Gly1176Val)
c.3203G>T (p.Gly1068Val)
c.1100G>T (p.Gly367Val)
c.3542G>T (p.Gly1181Val)
c.1862G>T (p.Gly621Val)
Xg.108666569A>CCA517922402COL4A5c.3528A>C (p.Gly1176=)
c.3204A>C (p.Gly1068=)
c.1101A>C (p.Gly367=)
c.3543A>C (p.Gly1181=)
c.1863A>C (p.Gly621=)
Xg.108666569A>GCA517922403COL4A5c.3528A>G (p.Gly1176=)
c.3204A>G (p.Gly1068=)
c.1101A>G (p.Gly367=)
c.3543A>G (p.Gly1181=)
c.1863A>G (p.Gly621=)
 gnomAD v4
Xg.108666569A>TCA517922404COL4A5c.3528A>T (p.Gly1176=)
c.3204A>T (p.Gly1068=)
c.1101A>T (p.Gly367=)
c.3543A>T (p.Gly1181=)
c.1863A>T (p.Gly621=)
Xg.108666570C>ACA413847826COL4A5c.3529C>A (p.Pro1177Thr)
c.3205C>A (p.Pro1069Thr)
c.1102C>A (p.Pro368Thr)
c.3544C>A (p.Pro1182Thr)
c.1864C>A (p.Pro622Thr)
Xg.108666570C>GCA413847829COL4A5c.3529C>G (p.Pro1177Ala)
c.3205C>G (p.Pro1069Ala)
c.1102C>G (p.Pro368Ala)
c.3544C>G (p.Pro1182Ala)
c.1864C>G (p.Pro622Ala)
 gnomAD v4
Xg.108666570C>TCA413847831COL4A5c.3529C>T (p.Pro1177Ser)
c.3205C>T (p.Pro1069Ser)
c.1102C>T (p.Pro368Ser)
c.3544C>T (p.Pro1182Ser)
c.1864C>T (p.Pro622Ser)
Xg.108666571C>ACA10489126COL4A5c.3530C>A (p.Pro1177Gln)
c.3206C>A (p.Pro1069Gln)
c.1103C>A (p.Pro368Gln)
c.3545C>A (p.Pro1182Gln)
c.1865C>A (p.Pro622Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
Xg.108666571C=CA2450712345COL4A5c.3530C= (p.Pro1177=)
c.3206C= (p.Pro1069=)
c.1103C= (p.Pro368=)
c.3545C= (p.Pro1182=)
c.1865C= (p.Pro622=)
Xg.108666571C>GCA413847836COL4A5c.3530C>G (p.Pro1177Arg)
c.3206C>G (p.Pro1069Arg)
c.1103C>G (p.Pro368Arg)
c.3545C>G (p.Pro1182Arg)
c.1865C>G (p.Pro622Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.108666571C>TCA413847834COL4A5c.3530C>T (p.Pro1177Leu)
c.3206C>T (p.Pro1069Leu)
c.1103C>T (p.Pro368Leu)
c.3545C>T (p.Pro1182Leu)
c.1865C>T (p.Pro622Leu)
Xg.108666572A>CCA517922409COL4A5c.3531A>C (p.Pro1177=)
c.3207A>C (p.Pro1069=)
c.1104A>C (p.Pro368=)
c.3546A>C (p.Pro1182=)
c.1866A>C (p.Pro622=)
Xg.108666572A>GCA517922406COL4A5c.3531A>G (p.Pro1177=)
c.3207A>G (p.Pro1069=)
c.1104A>G (p.Pro368=)
c.3546A>G (p.Pro1182=)
c.1866A>G (p.Pro622=)
Xg.108666572A>TCA517922408COL4A5c.3531A>T (p.Pro1177=)
c.3207A>T (p.Pro1069=)
c.1104A>T (p.Pro368=)
c.3546A>T (p.Pro1182=)
c.1866A>T (p.Pro622=)
Xg.108666573G>ACA413847838COL4A5c.3532G>A (p.Ala1178Thr)
c.3208G>A (p.Ala1070Thr)
c.1105G>A (p.Ala369Thr)
c.3547G>A (p.Ala1183Thr)
c.1867G>A (p.Ala623Thr)
Xg.108666573G>CCA413847840COL4A5c.3532G>C (p.Ala1178Pro)
c.3208G>C (p.Ala1070Pro)
c.1105G>C (p.Ala369Pro)
c.3547G>C (p.Ala1183Pro)
c.1867G>C (p.Ala623Pro)
Xg.108666573G>TCA413847842COL4A5c.3532G>T (p.Ala1178Ser)
c.3208G>T (p.Ala1070Ser)
c.1105G>T (p.Ala369Ser)
c.3547G>T (p.Ala1183Ser)
c.1867G>T (p.Ala623Ser)
Xg.108666574C>ACA413847845COL4A5c.3533C>A (p.Ala1178Asp)
c.3209C>A (p.Ala1070Asp)
c.1106C>A (p.Ala369Asp)
c.3548C>A (p.Ala1183Asp)
c.1868C>A (p.Ala623Asp)
 gnomAD v4
Xg.108666574C>GCA413847847COL4A5c.3533C>G (p.Ala1178Gly)
c.3209C>G (p.Ala1070Gly)
c.1106C>G (p.Ala369Gly)
c.3548C>G (p.Ala1183Gly)
c.1868C>G (p.Ala623Gly)
Xg.108666574C>TCA413847849COL4A5c.3533C>T (p.Ala1178Val)
c.3209C>T (p.Ala1070Val)
c.1106C>T (p.Ala369Val)
c.3548C>T (p.Ala1183Val)
c.1868C>T (p.Ala623Val)
Xg.108666575T>ACA517922410COL4A5c.3534T>A (p.Ala1178=)
c.3210T>A (p.Ala1070=)
c.1107T>A (p.Ala369=)
c.3549T>A (p.Ala1183=)
c.1869T>A (p.Ala623=)
Xg.108666575T>CCA517922412COL4A5c.3534T>C (p.Ala1178=)
c.3210T>C (p.Ala1070=)
c.1107T>C (p.Ala369=)
c.3549T>C (p.Ala1183=)
c.1869T>C (p.Ala623=)
Xg.108666575T>GCA517922414COL4A5c.3534T>G (p.Ala1178=)
c.3210T>G (p.Ala1070=)
c.1107T>G (p.Ala369=)
c.3549T>G (p.Ala1183=)
c.1869T>G (p.Ala623=)
Xg.108666576G>ACA258885COL4A5c.3535G>A (p.Gly1179Arg)
c.3211G>A (p.Gly1071Arg)
c.1108G>A (p.Gly370Arg)
c.3550G>A (p.Gly1184Arg)
c.1870G>A (p.Gly624Arg)
 dbSNP
Xg.108666576G>CCA413847852COL4A5c.3535G>C (p.Gly1179Arg)
c.3211G>C (p.Gly1071Arg)
c.1108G>C (p.Gly370Arg)
c.3550G>C (p.Gly1184Arg)
c.1870G>C (p.Gly624Arg)
Xg.108666576G=CA2450712346COL4A5c.3535G= (p.Gly1179=)
c.3211G= (p.Gly1071=)
c.1108G= (p.Gly370=)
c.3550G= (p.Gly1184=)
c.1870G= (p.Gly624=)
Xg.108666576G>TCA413847854COL4A5c.3535G>T (p.Gly1179Ter)
c.3211G>T (p.Gly1071Ter)
c.1108G>T (p.Gly370Ter)
c.3550G>T (p.Gly1184Ter)
c.1870G>T (p.Gly624Ter)
 ClinVar dbSNP COSMIC COSMIC
Xg.108666577delCA2695235648COL4A5c.3536del (p.Gly1179AspfsTer?)
c.3212del (p.Gly1071AspfsTer?)
c.1109del (p.Gly370AspfsTer?)
c.3551del (p.Gly1184AspfsTer?)
c.1871del (p.Gly624AspfsTer?)
Xg.108666577G>ACA413847857COL4A5c.3536G>A (p.Gly1179Glu)
c.3212G>A (p.Gly1071Glu)
c.1109G>A (p.Gly370Glu)
c.3551G>A (p.Gly1184Glu)
c.1871G>A (p.Gly624Glu)
Xg.108666577G>CCA413847859COL4A5c.3536G>C (p.Gly1179Ala)
c.3212G>C (p.Gly1071Ala)
c.1109G>C (p.Gly370Ala)
c.3551G>C (p.Gly1184Ala)
c.1871G>C (p.Gly624Ala)
Xg.108666577G>TCA413847860COL4A5c.3536G>T (p.Gly1179Val)
c.3212G>T (p.Gly1071Val)
c.1109G>T (p.Gly370Val)
c.3551G>T (p.Gly1184Val)
c.1871G>T (p.Gly624Val)
 ClinVar dbSNP
Xg.108666578A>CCA517922416COL4A5c.3537A>C (p.Gly1179=)
c.3213A>C (p.Gly1071=)
c.1110A>C (p.Gly370=)
c.3552A>C (p.Gly1184=)
c.1872A>C (p.Gly624=)
Xg.108666578A>GCA517922417COL4A5c.3537A>G (p.Gly1179=)
c.3213A>G (p.Gly1071=)
c.1110A>G (p.Gly370=)
c.3552A>G (p.Gly1184=)
c.1872A>G (p.Gly624=)
Xg.108666578A>TCA517922419COL4A5c.3537A>T (p.Gly1179=)
c.3213A>T (p.Gly1071=)
c.1110A>T (p.Gly370=)
c.3552A>T (p.Gly1184=)
c.1872A>T (p.Gly624=)
Xg.108666579C>ACA413847867COL4A5c.3538C>A (p.Gln1180Lys)
c.3214C>A (p.Gln1072Lys)
c.1111C>A (p.Gln371Lys)
c.3553C>A (p.Gln1185Lys)
c.1873C>A (p.Gln625Lys)
Xg.108666579C=CA2450712347COL4A5c.3538C= (p.Gln1180=)
c.3214C= (p.Gln1072=)
c.1111C= (p.Gln371=)
c.3553C= (p.Gln1185=)
c.1873C= (p.Gln625=)
Xg.108666579C>GCA413847864COL4A5c.3538C>G (p.Gln1180Glu)
c.3214C>G (p.Gln1072Glu)
c.1111C>G (p.Gln371Glu)
c.3553C>G (p.Gln1185Glu)
c.1873C>G (p.Gln625Glu)
Xg.108666579C>TCA258888COL4A5c.3538C>T (p.Gln1180Ter)
c.3214C>T (p.Gln1072Ter)
c.1111C>T (p.Gln371Ter)
c.3553C>T (p.Gln1185Ter)
c.1873C>T (p.Gln625Ter)
 ClinVar dbSNP
Xg.108666580A>CCA413847869COL4A5c.3539A>C (p.Gln1180Pro)
c.3215A>C (p.Gln1072Pro)
c.1112A>C (p.Gln371Pro)
c.3554A>C (p.Gln1185Pro)
c.1874A>C (p.Gln625Pro)
 gnomAD v4
Xg.108666580A>GCA413847871COL4A5c.3539A>G (p.Gln1180Arg)
c.3215A>G (p.Gln1072Arg)
c.1112A>G (p.Gln371Arg)
c.3554A>G (p.Gln1185Arg)
c.1874A>G (p.Gln625Arg)
Xg.108666580A>TCA413847873COL4A5c.3539A>T (p.Gln1180Leu)
c.3215A>T (p.Gln1072Leu)
c.1112A>T (p.Gln371Leu)
c.3554A>T (p.Gln1185Leu)
c.1874A>T (p.Gln625Leu)
Xg.108666580_108666587delinsAGAAGGGTCA2450712348COL4A5c.3539_3546delinsAGAAGGGT (p.Gln1180=)
c.3215_3222delinsAGAAGGGT (p.Gln1072=)
c.1112_1119delinsAGAAGGGT (p.Gln371=)
c.3554_3561delinsAGAAGGGT (p.Gln1185=)
c.1874_1881delinsAGAAGGGT (p.Gln625=)
Xg.108666581G>ACA517922422COL4A5c.3540G>A (p.Gln1180=)
c.3216G>A (p.Gln1072=)
c.1113G>A (p.Gln371=)
c.3555G>A (p.Gln1185=)
c.1875G>A (p.Gln625=)
 dbSNP gnomAD v2 gnomAD v4
Xg.108666581G>CCA413847875COL4A5c.3540G>C (p.Gln1180His)
c.3216G>C (p.Gln1072His)
c.1113G>C (p.Gln371His)
c.3555G>C (p.Gln1185His)
c.1875G>C (p.Gln625His)
Xg.108666581G=CA2450712349COL4A5c.3540G= (p.Gln1180=)
c.3216G= (p.Gln1072=)
c.1113G= (p.Gln371=)
c.3555G= (p.Gln1185=)
c.1875G= (p.Gln625=)
Xg.108666581G>TCA413847877COL4A5c.3540G>T (p.Gln1180His)
c.3216G>T (p.Gln1072His)
c.1113G>T (p.Gln371His)
c.3555G>T (p.Gln1185His)
c.1875G>T (p.Gln625His)
 gnomAD v4
Xg.108666584_108666590delCA258891COL4A5c.3543_3549del (p.Lys1181AsnfsTer?)
c.3219_3225del (p.Lys1073AsnfsTer?)
c.1116_1122del (p.Lys372AsnfsTer?)
c.3558_3564del (p.Lys1186AsnfsTer?)
c.1878_1884del (p.Lys626AsnfsTer?)
 dbSNP
Xg.108666582A>CCA413847881COL4A5c.3541A>C (p.Lys1181Gln)
c.3217A>C (p.Lys1073Gln)
c.1114A>C (p.Lys372Gln)
c.3556A>C (p.Lys1186Gln)
c.1876A>C (p.Lys626Gln)
Xg.108666582A>GCA413847883COL4A5c.3541A>G (p.Lys1181Glu)
c.3217A>G (p.Lys1073Glu)
c.1114A>G (p.Lys372Glu)
c.3556A>G (p.Lys1186Glu)
c.1876A>G (p.Lys626Glu)
Xg.108666582A>TCA413847884COL4A5c.3541A>T (p.Lys1181Ter)
c.3217A>T (p.Lys1073Ter)
c.1114A>T (p.Lys372Ter)
c.3556A>T (p.Lys1186Ter)
c.1876A>T (p.Lys626Ter)
Xg.108666583delCA2694441417COL4A5c.3542del (p.Lys1181ArgfsTer?)
c.3218del (p.Lys1073ArgfsTer?)
c.1115del (p.Lys372ArgfsTer?)
c.3557del (p.Lys1186ArgfsTer?)
c.1877del (p.Lys626ArgfsTer?)
 gnomAD v4
Xg.108666583A>CCA413847887COL4A5c.3542A>C (p.Lys1181Thr)
c.3218A>C (p.Lys1073Thr)
c.1115A>C (p.Lys372Thr)
c.3557A>C (p.Lys1186Thr)
c.1877A>C (p.Lys626Thr)
Xg.108666583A>GCA413847889COL4A5c.3542A>G (p.Lys1181Arg)
c.3218A>G (p.Lys1073Arg)
c.1115A>G (p.Lys372Arg)
c.3557A>G (p.Lys1186Arg)
c.1877A>G (p.Lys626Arg)
Xg.108666583A>TCA413847890COL4A5c.3542A>T (p.Lys1181Met)
c.3218A>T (p.Lys1073Met)
c.1115A>T (p.Lys372Met)
c.3557A>T (p.Lys1186Met)
c.1877A>T (p.Lys626Met)
Xg.108666584G>ACA517922423COL4A5c.3543G>A (p.Lys1181=)
c.3219G>A (p.Lys1073=)
c.1116G>A (p.Lys372=)
c.3558G>A (p.Lys1186=)
c.1878G>A (p.Lys626=)
Xg.108666584G>CCA413847894COL4A5c.3543G>C (p.Lys1181Asn)
c.3219G>C (p.Lys1073Asn)
c.1116G>C (p.Lys372Asn)
c.3558G>C (p.Lys1186Asn)
c.1878G>C (p.Lys626Asn)
 dbSNP gnomAD v2 gnomAD v4
Xg.108666584G=CA2450712350COL4A5c.3543G= (p.Lys1181=)
c.3219G= (p.Lys1073=)
c.1116G= (p.Lys372=)
c.3558G= (p.Lys1186=)
c.1878G= (p.Lys626=)
Xg.108666584G>TCA413847892COL4A5c.3543G>T (p.Lys1181Asn)
c.3219G>T (p.Lys1073Asn)
c.1116G>T (p.Lys372Asn)
c.3558G>T (p.Lys1186Asn)
c.1878G>T (p.Lys626Asn)
Xg.108666585G>ACA413847896COL4A5c.3544G>A (p.Gly1182Ser)
c.3220G>A (p.Gly1074Ser)
c.1117G>A (p.Gly373Ser)
c.3559G>A (p.Gly1187Ser)
c.1879G>A (p.Gly627Ser)
Xg.108666585G>CCA258892COL4A5c.3544G>C (p.Gly1182Arg)
c.3220G>C (p.Gly1074Arg)
c.1117G>C (p.Gly373Arg)
c.3559G>C (p.Gly1187Arg)
c.1879G>C (p.Gly627Arg)
 dbSNP
Xg.108666585G=CA2450712351COL4A5c.3544G= (p.Gly1182=)
c.3220G= (p.Gly1074=)
c.1117G= (p.Gly373=)
c.3559G= (p.Gly1187=)
c.1879G= (p.Gly627=)
Xg.108666585G>TCA413847898COL4A5c.3544G>T (p.Gly1182Cys)
c.3220G>T (p.Gly1074Cys)
c.1117G>T (p.Gly373Cys)
c.3559G>T (p.Gly1187Cys)
c.1879G>T (p.Gly627Cys)
 gnomAD v4
Xg.108666586G>ACA413847901COL4A5c.3545G>A (p.Gly1182Asp)
c.3221G>A (p.Gly1074Asp)
c.1118G>A (p.Gly373Asp)
c.3560G>A (p.Gly1187Asp)
c.1880G>A (p.Gly627Asp)
 gnomAD v4
Xg.108666586G>CCA413847903COL4A5c.3545G>C (p.Gly1182Ala)
c.3221G>C (p.Gly1074Ala)
c.1118G>C (p.Gly373Ala)
c.3560G>C (p.Gly1187Ala)
c.1880G>C (p.Gly627Ala)
Xg.108666586G=CA2450712352COL4A5c.3545G= (p.Gly1182=)
c.3221G= (p.Gly1074=)
c.1118G= (p.Gly373=)
c.3560G= (p.Gly1187=)
c.1880G= (p.Gly627=)
Xg.108666586G>TCA413847905COL4A5c.3545G>T (p.Gly1182Val)
c.3221G>T (p.Gly1074Val)
c.1118G>T (p.Gly373Val)
c.3560G>T (p.Gly1187Val)
c.1880G>T (p.Gly627Val)
Xg.108666587T>ACA517922428COL4A5c.3546T>A (p.Gly1182=)
c.3222T>A (p.Gly1074=)
c.1119T>A (p.Gly373=)
c.3561T>A (p.Gly1187=)
c.1881T>A (p.Gly627=)
Xg.108666587T>CCA517922427COL4A5c.3546T>C (p.Gly1182=)
c.3222T>C (p.Gly1074=)
c.1119T>C (p.Gly373=)
c.3561T>C (p.Gly1187=)
c.1881T>C (p.Gly627=)
Xg.108666587T>GCA517922426COL4A5c.3546T>G (p.Gly1182=)
c.3222T>G (p.Gly1074=)
c.1119T>G (p.Gly373=)
c.3561T>G (p.Gly1187=)
c.1881T>G (p.Gly627=)
Xg.108666588G>ACA413847907COL4A5c.3547G>A (p.Glu1183Lys)
c.3223G>A (p.Glu1075Lys)
c.1120G>A (p.Glu374Lys)
c.3562G>A (p.Glu1188Lys)
c.1882G>A (p.Glu628Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.108666588G>CCA413847909COL4A5c.3547G>C (p.Glu1183Gln)
c.3223G>C (p.Glu1075Gln)
c.1120G>C (p.Glu374Gln)
c.3562G>C (p.Glu1188Gln)
c.1882G>C (p.Glu628Gln)
Xg.108666588G=CA2450712353COL4A5c.3547G= (p.Glu1183=)
c.3223G= (p.Glu1075=)
c.1120G= (p.Glu374=)
c.3562G= (p.Glu1188=)
c.1882G= (p.Glu628=)
Xg.108666588G>TCA413847911COL4A5c.3547G>T (p.Glu1183Ter)
c.3223G>T (p.Glu1075Ter)
c.1120G>T (p.Glu374Ter)
c.3562G>T (p.Glu1188Ter)
c.1882G>T (p.Glu628Ter)
Xg.108666589A>CCA413847913COL4A5c.3548A>C (p.Glu1183Ala)
c.3224A>C (p.Glu1075Ala)
c.1121A>C (p.Glu374Ala)
c.3563A>C (p.Glu1188Ala)
c.1883A>C (p.Glu628Ala)
Xg.108666589A>GCA413847916COL4A5c.3548A>G (p.Glu1183Gly)
c.3224A>G (p.Glu1075Gly)
c.1121A>G (p.Glu374Gly)
c.3563A>G (p.Glu1188Gly)
c.1883A>G (p.Glu628Gly)
Xg.108666589A>TCA413847918COL4A5c.3548A>T (p.Glu1183Val)
c.3224A>T (p.Glu1075Val)
c.1121A>T (p.Glu374Val)
c.3563A>T (p.Glu1188Val)
c.1883A>T (p.Glu628Val)
Xg.108666590A>CCA413847920COL4A5c.3549A>C (p.Glu1183Asp)
c.3225A>C (p.Glu1075Asp)
c.1122A>C (p.Glu374Asp)
c.3564A>C (p.Glu1188Asp)
c.1884A>C (p.Glu628Asp)
Xg.108666590A>GCA517922431COL4A5c.3549A>G (p.Glu1183=)
c.3225A>G (p.Glu1075=)
c.1122A>G (p.Glu374=)
c.3564A>G (p.Glu1188=)
c.1884A>G (p.Glu628=)
Xg.108666590A>TCA413847923COL4A5c.3549A>T (p.Glu1183Asp)
c.3225A>T (p.Glu1075Asp)
c.1122A>T (p.Glu374Asp)
c.3564A>T (p.Glu1188Asp)
c.1884A>T (p.Glu628Asp)
Xg.108666591C>ACA10489127COL4A5c.3550C>A (p.Pro1184Thr)
c.3226C>A (p.Pro1076Thr)
c.1123C>A (p.Pro375Thr)
c.3565C>A (p.Pro1189Thr)
c.1885C>A (p.Pro629Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108666591C=CA2450712354COL4A5c.3550C= (p.Pro1184=)
c.3226C= (p.Pro1076=)
c.1123C= (p.Pro375=)
c.3565C= (p.Pro1189=)
c.1885C= (p.Pro629=)
Xg.108666591C>GCA413847925COL4A5c.3550C>G (p.Pro1184Ala)
c.3226C>G (p.Pro1076Ala)
c.1123C>G (p.Pro375Ala)
c.3565C>G (p.Pro1189Ala)
c.1885C>G (p.Pro629Ala)
Xg.108666591C>TCA334045788COL4A5c.3550C>T (p.Pro1184Ser)
c.3226C>T (p.Pro1076Ser)
c.1123C>T (p.Pro375Ser)
c.3565C>T (p.Pro1189Ser)
c.1885C>T (p.Pro629Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108666592C>ACA413847929COL4A5c.3551C>A (p.Pro1184Gln)
c.3227C>A (p.Pro1076Gln)
c.1124C>A (p.Pro375Gln)
c.3566C>A (p.Pro1189Gln)
c.1886C>A (p.Pro629Gln)
Xg.108666592C>GCA413847930COL4A5c.3551C>G (p.Pro1184Arg)
c.3227C>G (p.Pro1076Arg)
c.1124C>G (p.Pro375Arg)
c.3566C>G (p.Pro1189Arg)
c.1886C>G (p.Pro629Arg)
Xg.108666592C>TCA413847932COL4A5c.3551C>T (p.Pro1184Leu)
c.3227C>T (p.Pro1076Leu)
c.1124C>T (p.Pro375Leu)
c.3566C>T (p.Pro1189Leu)
c.1886C>T (p.Pro629Leu)
 COSMIC
Xg.108666593A>CCA517922435COL4A5c.3552A>C (p.Pro1184=)
c.3228A>C (p.Pro1076=)
c.1125A>C (p.Pro375=)
c.3567A>C (p.Pro1189=)
c.1887A>C (p.Pro629=)
Xg.108666593A>GCA517922436COL4A5c.3552A>G (p.Pro1184=)
c.3228A>G (p.Pro1076=)
c.1125A>G (p.Pro375=)
c.3567A>G (p.Pro1189=)
c.1887A>G (p.Pro629=)
 gnomAD v4
Xg.108666593A>TCA517922437COL4A5c.3552A>T (p.Pro1184=)
c.3228A>T (p.Pro1076=)
c.1125A>T (p.Pro375=)
c.3567A>T (p.Pro1189=)
c.1887A>T (p.Pro629=)
Xg.108666594G>ACA413847934COL4A5c.3553G>A (p.Gly1185Ser)
c.3229G>A (p.Gly1077Ser)
c.1126G>A (p.Gly376Ser)
c.3568G>A (p.Gly1190Ser)
c.1888G>A (p.Gly630Ser)
 dbSNP gnomAD v2 gnomAD v4
Xg.108666594G>CCA413847936COL4A5c.3553G>C (p.Gly1185Arg)
c.3229G>C (p.Gly1077Arg)
c.1126G>C (p.Gly376Arg)
c.3568G>C (p.Gly1190Arg)
c.1888G>C (p.Gly630Arg)
 ClinVar dbSNP
Xg.108666594G=CA2450712355COL4A5c.3553G= (p.Gly1185=)
c.3229G= (p.Gly1077=)
c.1126G= (p.Gly376=)
c.3568G= (p.Gly1190=)
c.1888G= (p.Gly630=)
Xg.108666594G>TCA413847939COL4A5c.3553G>T (p.Gly1185Cys)
c.3229G>T (p.Gly1077Cys)
c.1126G>T (p.Gly376Cys)
c.3568G>T (p.Gly1190Cys)
c.1888G>T (p.Gly630Cys)
Xg.108666595G>ACA413847941COL4A5c.3553+1G>A (n.3553+1G>A)
c.3229+1G>A (n.3229+1G>A)
c.1126+1G>A (n.1126+1G>A)
c.3568+1G>A (n.3568+1G>A)
c.1888+1G>A (n.1888+1G>A)
Xg.108666595G>CCA413847944COL4A5c.3553+1G>C (n.3553+1G>C)
c.3229+1G>C (n.3229+1G>C)
c.1126+1G>C (n.1126+1G>C)
c.3568+1G>C (n.3568+1G>C)
c.1888+1G>C (n.1888+1G>C)
Xg.108666595G>TCA413847946COL4A5c.3553+1G>T (n.3553+1G>T)
c.3229+1G>T (n.3229+1G>T)
c.1126+1G>T (n.1126+1G>T)
c.3568+1G>T (n.3568+1G>T)
c.1888+1G>T (n.1888+1G>T)
Xg.108666596T>ACA413847948COL4A5c.3553+2T>A (n.3553+2T>A)
c.3229+2T>A (n.3229+2T>A)
c.1126+2T>A (n.1126+2T>A)
c.3568+2T>A (n.3568+2T>A)
c.1888+2T>A (n.1888+2T>A)
Xg.108666596T>CCA413847950COL4A5c.3553+2T>C (n.3553+2T>C)
c.3229+2T>C (n.3229+2T>C)
c.1126+2T>C (n.1126+2T>C)
c.3568+2T>C (n.3568+2T>C)
c.1888+2T>C (n.1888+2T>C)
 ClinVar
Xg.108666596T>GCA413847952COL4A5c.3553+2T>G (n.3553+2T>G)
c.3229+2T>G (n.3229+2T>G)
c.1126+2T>G (n.1126+2T>G)
c.3568+2T>G (n.3568+2T>G)
c.1888+2T>G (n.1888+2T>G)
Xg.108666597G>ACA2694441418COL4A5c.3553+3G>A (n.3553+3G>A)
c.3229+3G>A (n.3229+3G>A)
c.1126+3G>A (n.1126+3G>A)
c.3568+3G>A (n.3568+3G>A)
c.1888+3G>A (n.1888+3G>A)
 gnomAD v4
Xg.108666599T>CCA643636643COL4A5c.3553+5T>C (n.3553+5T>C)
c.3229+5T>C (n.3229+5T>C)
c.1126+5T>C (n.1126+5T>C)
c.3568+5T>C (n.3568+5T>C)
c.1888+5T>C (n.1888+5T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.108666599T=CA2450712356COL4A5c.3553+5T= (n.3553+5T=)
c.3229+5T= (n.3229+5T=)
c.1126+5T= (n.1126+5T=)
c.3568+5T= (n.3568+5T=)
c.1888+5T= (n.1888+5T=)
Xg.108666600G>ACA2579676867COL4A5c.3553+6G>A (n.3553+6G>A)
c.3229+6G>A (n.3229+6G>A)
c.1126+6G>A (n.1126+6G>A)
c.3568+6G>A (n.3568+6G>A)
c.1888+6G>A (n.1888+6G>A)
 gnomAD v4
Xg.108666600G>TCA2694441419COL4A5c.3553+6G>T (n.3553+6G>T)
c.3229+6G>T (n.3229+6G>T)
c.1126+6G>T (n.1126+6G>T)
c.3568+6G>T (n.3568+6G>T)
c.1888+6G>T (n.1888+6G>T)
 gnomAD v4
Xg.108666601T>ACA2579676868COL4A5c.3553+7T>A (n.3553+7T>A)
c.3229+7T>A (n.3229+7T>A)
c.1126+7T>A (n.1126+7T>A)
c.3568+7T>A (n.3568+7T>A)
c.1888+7T>A (n.1888+7T>A)
Xg.108666601T>CCA2450712358COL4A5c.3553+7T>C (n.3553+7T>C)
c.3229+7T>C (n.3229+7T>C)
c.1126+7T>C (n.1126+7T>C)
c.3568+7T>C (n.3568+7T>C)
c.1888+7T>C (n.1888+7T>C)
 dbSNP
Xg.108666601T=CA2450712357COL4A5c.3553+7T= (n.3553+7T=)
c.3229+7T= (n.3229+7T=)
c.1126+7T= (n.1126+7T=)
c.3568+7T= (n.3568+7T=)
c.1888+7T= (n.1888+7T=)
Xg.108666602A=CA2450712359COL4A5c.3553+8A= (n.3553+8A=)
c.3229+8A= (n.3229+8A=)
c.1126+8A= (n.1126+8A=)
c.3568+8A= (n.3568+8A=)
c.1888+8A= (n.1888+8A=)
Xg.108666602A>CCA10489128COL4A5c.3553+8A>C (n.3553+8A>C)
c.3229+8A>C (n.3229+8A>C)
c.1126+8A>C (n.1126+8A>C)
c.3568+8A>C (n.3568+8A>C)
c.1888+8A>C (n.1888+8A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108666602A>GCA643636644COL4A5c.3553+8A>G (n.3553+8A>G)
c.3229+8A>G (n.3229+8A>G)
c.1126+8A>G (n.1126+8A>G)
c.3568+8A>G (n.3568+8A>G)
c.1888+8A>G (n.1888+8A>G)
 dbSNP gnomAD v2 gnomAD v4
Xg.108666603G>ACA2580100176COL4A5c.3553+9G>A (n.3553+9G>A)
c.3229+9G>A (n.3229+9G>A)
c.1126+9G>A (n.1126+9G>A)
c.3568+9G>A (n.3568+9G>A)
c.1888+9G>A (n.1888+9G>A)
 ClinVar
Xg.108666604T>CCA869812306COL4A5c.3553+10T>C (n.3553+10T>C)
c.3229+10T>C (n.3229+10T>C)
c.1126+10T>C (n.1126+10T>C)
c.3568+10T>C (n.3568+10T>C)
c.1888+10T>C (n.1888+10T>C)
 dbSNP
Xg.108666604T=CA2450712360COL4A5c.3553+10T= (n.3553+10T=)
c.3229+10T= (n.3229+10T=)
c.1126+10T= (n.1126+10T=)
c.3568+10T= (n.3568+10T=)
c.1888+10T= (n.1888+10T=)
Xg.108666604_108666605delinsACA2739273713COL4A5c.3553+10_3553+11delinsA (n.3553+10_3553+11delinsA)
c.3229+10_3229+11delinsA (n.3229+10_3229+11delinsA)
c.1126+10_1126+11delinsA (n.1126+10_1126+11delinsA)
c.3568+10_3568+11delinsA (n.3568+10_3568+11delinsA)
c.1888+10_1888+11delinsA (n.1888+10_1888+11delinsA)
 ClinVar
Xg.108666608delCA2694441420COL4A5c.3553+14del (n.3553+14del)
c.3229+14del (n.3229+14del)
c.1126+14del (n.1126+14del)
c.3568+14del (n.3568+14del)
c.1888+14del (n.1888+14del)
 gnomAD v4
Xg.108666605T>ACA2822901931COL4A5c.3553+11T>A (n.3553+11T>A)
c.3229+11T>A (n.3229+11T>A)
c.1126+11T>A (n.1126+11T>A)
c.3568+11T>A (n.3568+11T>A)
c.1888+11T>A (n.1888+11T>A)
Xg.108666608T>CCA2694441421COL4A5c.3553+14T>C (n.3553+14T>C)
c.3229+14T>C (n.3229+14T>C)
c.1126+14T>C (n.1126+14T>C)
c.3568+14T>C (n.3568+14T>C)
c.1888+14T>C (n.1888+14T>C)
 gnomAD v4
Xg.108666609C>ACA2694441422COL4A5c.3553+15C>A (n.3553+15C>A)
c.3229+15C>A (n.3229+15C>A)
c.1126+15C>A (n.1126+15C>A)
c.3568+15C>A (n.3568+15C>A)
c.1888+15C>A (n.1888+15C>A)
 gnomAD v4
Xg.108666609_108666610insTCA2822901932COL4A5c.3553+15_3553+16insT (n.3553+15_3553+16insT)
c.3229+15_3229+16insT (n.3229+15_3229+16insT)
c.1126+15_1126+16insT (n.1126+15_1126+16insT)
c.3568+15_3568+16insT (n.3568+15_3568+16insT)
c.1888+15_1888+16insT (n.1888+15_1888+16insT)
Xg.108666610A>GCA2694441423COL4A5c.3553+16A>G (n.3553+16A>G)
c.3229+16A>G (n.3229+16A>G)
c.1126+16A>G (n.1126+16A>G)
c.3568+16A>G (n.3568+16A>G)
c.1888+16A>G (n.1888+16A>G)
 gnomAD v4
Xg.108666611T>ACA2694441424COL4A5c.3553+17T>A (n.3553+17T>A)
c.3229+17T>A (n.3229+17T>A)
c.1126+17T>A (n.1126+17T>A)
c.3568+17T>A (n.3568+17T>A)
c.1888+17T>A (n.1888+17T>A)
 gnomAD v4
Xg.108666611T>CCA2822901933COL4A5c.3553+17T>C (n.3553+17T>C)
c.3229+17T>C (n.3229+17T>C)
c.1126+17T>C (n.1126+17T>C)
c.3568+17T>C (n.3568+17T>C)
c.1888+17T>C (n.1888+17T>C)
Xg.108666615delCA2694441425COL4A5c.3553+21del (n.3553+21del)
c.3229+21del (n.3229+21del)
c.1126+21del (n.1126+21del)
c.3568+21del (n.3568+21del)
c.1888+21del (n.1888+21del)
 gnomAD v4
Xg.108666613T>CCA2694441426COL4A5c.3553+19T>C (n.3553+19T>C)
c.3229+19T>C (n.3229+19T>C)
c.1126+19T>C (n.1126+19T>C)
c.3568+19T>C (n.3568+19T>C)
c.1888+19T>C (n.1888+19T>C)
 gnomAD v4
Xg.108666614T>CCA10489129COL4A5c.3553+20T>C (n.3553+20T>C)
c.3229+20T>C (n.3229+20T>C)
c.1126+20T>C (n.1126+20T>C)
c.3568+20T>C (n.3568+20T>C)
c.1888+20T>C (n.1888+20T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108666614T=CA2450712361COL4A5c.3553+20T= (n.3553+20T=)
c.3229+20T= (n.3229+20T=)
c.1126+20T= (n.1126+20T=)
c.3568+20T= (n.3568+20T=)
c.1888+20T= (n.1888+20T=)
Xg.108666618T>ACA2501600124COL4A5c.3553+24T>A (n.3553+24T>A)
c.3229+24T>A (n.3229+24T>A)
c.1126+24T>A (n.1126+24T>A)
c.3568+24T>A (n.3568+24T>A)
c.1888+24T>A (n.1888+24T>A)
Xg.108666619A>GCA2518743993COL4A5c.3553+25A>G (n.3553+25A>G)
c.3229+25A>G (n.3229+25A>G)
c.1126+25A>G (n.1126+25A>G)
c.3568+25A>G (n.3568+25A>G)
c.1888+25A>G (n.1888+25A>G)
 gnomAD v4
Xg.108666619_108666620insCTCCCCA2558901210COL4A5c.3553+25_3553+26insCTCCC (n.3553+25_3553+26insCTCCC)
c.3229+25_3229+26insCTCCC (n.3229+25_3229+26insCTCCC)
c.1126+25_1126+26insCTCCC (n.1126+25_1126+26insCTCCC)
c.3568+25_3568+26insCTCCC (n.3568+25_3568+26insCTCCC)
c.1888+25_1888+26insCTCCC (n.1888+25_1888+26insCTCCC)
Xg.108666623T>CCA2694441427COL4A5c.3553+29T>C (n.3553+29T>C)
c.3229+29T>C (n.3229+29T>C)
c.1126+29T>C (n.1126+29T>C)
c.3568+29T>C (n.3568+29T>C)
c.1888+29T>C (n.1888+29T>C)
 gnomAD v4
Xg.108666624T>CCA2694441428COL4A5c.3553+30T>C (n.3553+30T>C)
c.3229+30T>C (n.3229+30T>C)
c.1126+30T>C (n.1126+30T>C)
c.3568+30T>C (n.3568+30T>C)
c.1888+30T>C (n.1888+30T>C)
 gnomAD v4
Xg.108666626T>CCA2694441429COL4A5c.3553+32T>C (n.3553+32T>C)
c.3229+32T>C (n.3229+32T>C)
c.1126+32T>C (n.1126+32T>C)
c.3568+32T>C (n.3568+32T>C)
c.1888+32T>C (n.1888+32T>C)
 gnomAD v4
Xg.108666626T>GCA2450712363COL4A5c.3553+32T>G (n.3553+32T>G)
c.3229+32T>G (n.3229+32T>G)
c.1126+32T>G (n.1126+32T>G)
c.3568+32T>G (n.3568+32T>G)
c.1888+32T>G (n.1888+32T>G)
 dbSNP
Xg.108666626T=CA2450712362COL4A5c.3553+32T= (n.3553+32T=)
c.3229+32T= (n.3229+32T=)
c.1126+32T= (n.1126+32T=)
c.3568+32T= (n.3568+32T=)
c.1888+32T= (n.1888+32T=)
Xg.108666627A>GCA2694441430COL4A5c.3553+33A>G (n.3553+33A>G)
c.3229+33A>G (n.3229+33A>G)
c.1126+33A>G (n.1126+33A>G)
c.3568+33A>G (n.3568+33A>G)
c.1888+33A>G (n.1888+33A>G)
 gnomAD v4
Xg.108666630T>ACA2694441431COL4A5c.3553+36T>A (n.3553+36T>A)
c.3229+36T>A (n.3229+36T>A)
c.1126+36T>A (n.1126+36T>A)
c.3568+36T>A (n.3568+36T>A)
c.1888+36T>A (n.1888+36T>A)
 gnomAD v4
Xg.108666631_108666633delinsTTCCA2450712364COL4A5c.3553+37_3553+39delinsTTC (n.3553+37_3553+39delinsTTC)
c.3229+37_3229+39delinsTTC (n.3229+37_3229+39delinsTTC)
c.1126+37_1126+39delinsTTC (n.1126+37_1126+39delinsTTC)
c.3568+37_3568+39delinsTTC (n.3568+37_3568+39delinsTTC)
c.1888+37_1888+39delinsTTC (n.1888+37_1888+39delinsTTC)
Xg.108666635_108666636delCA334045807COL4A5c.3553+41_3553+42del (n.3553+41_3553+42del)
c.3229+41_3229+42del (n.3229+41_3229+42del)
c.1126+41_1126+42del (n.1126+41_1126+42del)
c.3568+41_3568+42del (n.3568+41_3568+42del)
c.1888+41_1888+42del (n.1888+41_1888+42del)
 dbSNP gnomAD v4
Xg.108666633C>ACA643636645COL4A5c.3553+39C>A (n.3553+39C>A)
c.3229+39C>A (n.3229+39C>A)
c.1126+39C>A (n.1126+39C>A)
c.3568+39C>A (n.3568+39C>A)
c.1888+39C>A (n.1888+39C>A)
 dbSNP gnomAD v2 gnomAD v4
Xg.108666633C=CA2450712365COL4A5c.3553+39C= (n.3553+39C=)
c.3229+39C= (n.3229+39C=)
c.1126+39C= (n.1126+39C=)
c.3568+39C= (n.3568+39C=)
c.1888+39C= (n.1888+39C=)
Xg.108666634delCA2694441432COL4A5c.3553+40del (n.3553+40del)
c.3229+40del (n.3229+40del)
c.1126+40del (n.1126+40del)
c.3568+40del (n.3568+40del)
c.1888+40del (n.1888+40del)
 gnomAD v4
Xg.108666634T>ACA2579676869COL4A5c.3553+40T>A (n.3553+40T>A)
c.3229+40T>A (n.3229+40T>A)
c.1126+40T>A (n.1126+40T>A)
c.3568+40T>A (n.3568+40T>A)
c.1888+40T>A (n.1888+40T>A)
Xg.108666636T>CCA10489130COL4A5c.3553+42T>C (n.3553+42T>C)
c.3229+42T>C (n.3229+42T>C)
c.1126+42T>C (n.1126+42T>C)
c.3568+42T>C (n.3568+42T>C)
c.1888+42T>C (n.1888+42T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108666636T>GCA2450712367COL4A5c.3553+42T>G (n.3553+42T>G)
c.3229+42T>G (n.3229+42T>G)
c.1126+42T>G (n.1126+42T>G)
c.3568+42T>G (n.3568+42T>G)
c.1888+42T>G (n.1888+42T>G)
 dbSNP
Xg.108666636T=CA2450712366COL4A5c.3553+42T= (n.3553+42T=)
c.3229+42T= (n.3229+42T=)
c.1126+42T= (n.1126+42T=)
c.3568+42T= (n.3568+42T=)
c.1888+42T= (n.1888+42T=)
Xg.108666637G>ACA2450712369COL4A5c.3553+43G>A (n.3553+43G>A)
c.3229+43G>A (n.3229+43G>A)
c.1126+43G>A (n.1126+43G>A)
c.3568+43G>A (n.3568+43G>A)
c.1888+43G>A (n.1888+43G>A)
 dbSNP gnomAD v4
Xg.108666637G=CA2450712368COL4A5c.3553+43G= (n.3553+43G=)
c.3229+43G= (n.3229+43G=)
c.1126+43G= (n.1126+43G=)
c.3568+43G= (n.3568+43G=)
c.1888+43G= (n.1888+43G=)
Xg.108666640T>CCA2694441434COL4A5c.3553+46T>C (n.3553+46T>C)
c.3229+46T>C (n.3229+46T>C)
c.1126+46T>C (n.1126+46T>C)
c.3568+46T>C (n.3568+46T>C)
c.1888+46T>C (n.1888+46T>C)
 gnomAD v4
Xg.108666640T>GCA2694441433COL4A5c.3553+46T>G (n.3553+46T>G)
c.3229+46T>G (n.3229+46T>G)
c.1126+46T>G (n.1126+46T>G)
c.3568+46T>G (n.3568+46T>G)
c.1888+46T>G (n.1888+46T>G)
 gnomAD v4
Xg.108666642delCA2694441435COL4A5c.3553+48del (n.3553+48del)
c.3229+48del (n.3229+48del)
c.1126+48del (n.1126+48del)
c.3568+48del (n.3568+48del)
c.1888+48del (n.1888+48del)
 gnomAD v4

Number of alleles fetched