| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108666546_108666553del | CA517922363 | COL4A5 | c.3505_3512del (p.Pro1169ArgfsTer12) c.3181_3188del (p.Pro1061ArgfsTer12) c.1078_1085del (p.Pro360ArgfsTer12) c.3520_3527del (p.Pro1174ArgfsTer12) c.1840_1847del (p.Pro614ArgfsTer12) | |
| X | g.108666550del | CA258880 | COL4A5 | c.3509del (p.Gly1170ValfsTer?) c.3185del (p.Gly1062ValfsTer?) c.1082del (p.Gly361ValfsTer?) c.3524del (p.Gly1175ValfsTer?) c.1844del (p.Gly615ValfsTer?) | dbSNP |
| X | g.108666550G>A | CA16609464 | COL4A5 | c.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 |
| X | g.108666550G>C | CA413847773 | COL4A5 | c.3509G>C (p.Gly1170Ala) c.3185G>C (p.Gly1062Ala) c.1082G>C (p.Gly361Ala) c.3524G>C (p.Gly1175Ala) c.1844G>C (p.Gly615Ala) | |
| X | g.108666550G= | CA2450712337 | COL4A5 | c.3509G= (p.Gly1170=) c.3185G= (p.Gly1062=) c.1082G= (p.Gly361=) c.3524G= (p.Gly1175=) c.1844G= (p.Gly615=) | |
| X | g.108666550G>T | CA413847772 | COL4A5 | c.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 |
| X | g.108666551T>A | CA517922372 | COL4A5 | c.3510T>A (p.Gly1170=) c.3186T>A (p.Gly1062=) c.1083T>A (p.Gly361=) c.3525T>A (p.Gly1175=) c.1845T>A (p.Gly615=) | |
| X | g.108666551T>C | CA517922373 | COL4A5 | c.3510T>C (p.Gly1170=) c.3186T>C (p.Gly1062=) c.1083T>C (p.Gly361=) c.3525T>C (p.Gly1175=) c.1845T>C (p.Gly615=) | |
| X | g.108666551T>G | CA517922374 | COL4A5 | c.3510T>G (p.Gly1170=) c.3186T>G (p.Gly1062=) c.1083T>G (p.Gly361=) c.3525T>G (p.Gly1175=) c.1845T>G (p.Gly615=) | |
| X | g.108666552C>A | CA413847774 | COL4A5 | c.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 |
| X | g.108666552C= | CA2450712338 | COL4A5 | c.3511C= (p.Gln1171=) c.3187C= (p.Gln1063=) c.1084C= (p.Gln362=) c.3526C= (p.Gln1176=) c.1846C= (p.Gln616=) | |
| X | g.108666552C>G | CA413847775 | COL4A5 | c.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 |
| X | g.108666552C>T | CA413847776 | COL4A5 | c.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 |
| X | g.108666553A>C | CA413847777 | COL4A5 | c.3512A>C (p.Gln1171Pro) c.3188A>C (p.Gln1063Pro) c.1085A>C (p.Gln362Pro) c.3527A>C (p.Gln1176Pro) c.1847A>C (p.Gln616Pro) | |
| X | g.108666553A>G | CA413847778 | COL4A5 | c.3512A>G (p.Gln1171Arg) c.3188A>G (p.Gln1063Arg) c.1085A>G (p.Gln362Arg) c.3527A>G (p.Gln1176Arg) c.1847A>G (p.Gln616Arg) | |
| X | g.108666553A>T | CA413847779 | COL4A5 | c.3512A>T (p.Gln1171Leu) c.3188A>T (p.Gln1063Leu) c.1085A>T (p.Gln362Leu) c.3527A>T (p.Gln1176Leu) c.1847A>T (p.Gln616Leu) | |
| X | g.108666554A= | CA2450712339 | COL4A5 | c.3513A= (p.Gln1171=) c.3189A= (p.Gln1063=) c.1086A= (p.Gln362=) c.3528A= (p.Gln1176=) c.1848A= (p.Gln616=) | |
| X | g.108666554A>C | CA413847780 | COL4A5 | c.3513A>C (p.Gln1171His) c.3189A>C (p.Gln1063His) c.1086A>C (p.Gln362His) c.3528A>C (p.Gln1176His) c.1848A>C (p.Gln616His) | |
| X | g.108666554A>G | CA258881 | COL4A5 | c.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 |
| X | g.108666554A>T | CA413847781 | COL4A5 | c.3513A>T (p.Gln1171His) c.3189A>T (p.Gln1063His) c.1086A>T (p.Gln362His) c.3528A>T (p.Gln1176His) c.1848A>T (p.Gln616His) | |
| X | g.108666555G>A | CA413847782 | COL4A5 | c.3514G>A (p.Asp1172Asn) c.3190G>A (p.Asp1064Asn) c.1087G>A (p.Asp363Asn) c.3529G>A (p.Asp1177Asn) c.1849G>A (p.Asp617Asn) | |
| X | g.108666555G>C | CA413847783 | COL4A5 | c.3514G>C (p.Asp1172His) c.3190G>C (p.Asp1064His) c.1087G>C (p.Asp363His) c.3529G>C (p.Asp1177His) c.1849G>C (p.Asp617His) | |
| X | g.108666555G>T | CA413847784 | COL4A5 | c.3514G>T (p.Asp1172Tyr) c.3190G>T (p.Asp1064Tyr) c.1087G>T (p.Asp363Tyr) c.3529G>T (p.Asp1177Tyr) c.1849G>T (p.Asp617Tyr) | |
| X | g.108666556A= | CA2450712340 | COL4A5 | c.3515A= (p.Asp1172=) c.3191A= (p.Asp1064=) c.1088A= (p.Asp363=) c.3530A= (p.Asp1177=) c.1850A= (p.Asp617=) | |
| X | g.108666556A>C | CA413847786 | COL4A5 | c.3515A>C (p.Asp1172Ala) c.3191A>C (p.Asp1064Ala) c.1088A>C (p.Asp363Ala) c.3530A>C (p.Asp1177Ala) c.1850A>C (p.Asp617Ala) | |
| X | g.108666556A>G | CA413847787 | COL4A5 | c.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 |
| X | g.108666556A>T | CA413847785 | COL4A5 | c.3515A>T (p.Asp1172Val) c.3191A>T (p.Asp1064Val) c.1088A>T (p.Asp363Val) c.3530A>T (p.Asp1177Val) c.1850A>T (p.Asp617Val) | |
| X | g.108666557del | CA517922383 | COL4A5 | c.3516del (p.Asp1172GlufsTer?) c.3192del (p.Asp1064GlufsTer?) c.1089del (p.Asp363GlufsTer?) c.3531del (p.Asp1177GlufsTer?) c.1851del (p.Asp617GlufsTer?) | |
| X | g.108666557T>A | CA413847788 | COL4A5 | c.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 |
| X | g.108666557T>C | CA517922379 | COL4A5 | c.3516T>C (p.Asp1172=) c.3192T>C (p.Asp1064=) c.1089T>C (p.Asp363=) c.3531T>C (p.Asp1177=) c.1851T>C (p.Asp617=) | |
| X | g.108666557T>G | CA413847789 | COL4A5 | c.3516T>G (p.Asp1172Glu) c.3192T>G (p.Asp1064Glu) c.1089T>G (p.Asp363Glu) c.3531T>G (p.Asp1177Glu) c.1851T>G (p.Asp617Glu) | |
| X | g.108666558G>A | CA413847790 | COL4A5 | c.3517G>A (p.Gly1173Ser) c.3193G>A (p.Gly1065Ser) c.1090G>A (p.Gly364Ser) c.3532G>A (p.Gly1178Ser) c.1852G>A (p.Gly618Ser) | |
| X | g.108666558G>C | CA413847791 | COL4A5 | c.3517G>C (p.Gly1173Arg) c.3193G>C (p.Gly1065Arg) c.1090G>C (p.Gly364Arg) c.3532G>C (p.Gly1178Arg) c.1852G>C (p.Gly618Arg) | |
| X | g.108666558G>T | CA413847792 | COL4A5 | c.3517G>T (p.Gly1173Cys) c.3193G>T (p.Gly1065Cys) c.1090G>T (p.Gly364Cys) c.3532G>T (p.Gly1178Cys) c.1852G>T (p.Gly618Cys) | |
| X | g.108666559G>A | CA413847793 | COL4A5 | c.3518G>A (p.Gly1173Asp) c.3194G>A (p.Gly1065Asp) c.1091G>A (p.Gly364Asp) c.3533G>A (p.Gly1178Asp) c.1853G>A (p.Gly618Asp) | |
| X | g.108666559G>C | CA413847794 | COL4A5 | c.3518G>C (p.Gly1173Ala) c.3194G>C (p.Gly1065Ala) c.1091G>C (p.Gly364Ala) c.3533G>C (p.Gly1178Ala) c.1853G>C (p.Gly618Ala) | |
| X | g.108666559G>T | CA413847795 | COL4A5 | c.3518G>T (p.Gly1173Val) c.3194G>T (p.Gly1065Val) c.1091G>T (p.Gly364Val) c.3533G>T (p.Gly1178Val) c.1853G>T (p.Gly618Val) | |
| X | g.108666560T>A | CA517922386 | COL4A5 | c.3519T>A (p.Gly1173=) c.3195T>A (p.Gly1065=) c.1092T>A (p.Gly364=) c.3534T>A (p.Gly1178=) c.1854T>A (p.Gly618=) | |
| X | g.108666560T>C | CA517922388 | COL4A5 | c.3519T>C (p.Gly1173=) c.3195T>C (p.Gly1065=) c.1092T>C (p.Gly364=) c.3534T>C (p.Gly1178=) c.1854T>C (p.Gly618=) | |
| X | g.108666560T>G | CA10489125 | COL4A5 | c.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 |
| X | g.108666560T= | CA2450712341 | COL4A5 | c.3519T= (p.Gly1173=) c.3195T= (p.Gly1065=) c.1092T= (p.Gly364=) c.3534T= (p.Gly1178=) c.1854T= (p.Gly618=) | |
| X | g.108666560_108666561insTTT | CA517922384 | COL4A5 | c.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) | |
| X | g.108666561A>C | CA413847796 | COL4A5 | c.3520A>C (p.Ile1174Leu) c.3196A>C (p.Ile1066Leu) c.1093A>C (p.Ile365Leu) c.3535A>C (p.Ile1179Leu) c.1855A>C (p.Ile619Leu) | |
| X | g.108666561A>G | CA413847798 | COL4A5 | c.3520A>G (p.Ile1174Val) c.3196A>G (p.Ile1066Val) c.1093A>G (p.Ile365Val) c.3535A>G (p.Ile1179Val) c.1855A>G (p.Ile619Val) | |
| X | g.108666561A>T | CA413847797 | COL4A5 | c.3520A>T (p.Ile1174Phe) c.3196A>T (p.Ile1066Phe) c.1093A>T (p.Ile365Phe) c.3535A>T (p.Ile1179Phe) c.1855A>T (p.Ile619Phe) | |
| X | g.108666562T>A | CA413847799 | COL4A5 | c.3521T>A (p.Ile1174Asn) c.3197T>A (p.Ile1066Asn) c.1094T>A (p.Ile365Asn) c.3536T>A (p.Ile1179Asn) c.1856T>A (p.Ile619Asn) | |
| X | g.108666562T>C | CA413847800 | COL4A5 | c.3521T>C (p.Ile1174Thr) c.3197T>C (p.Ile1066Thr) c.1094T>C (p.Ile365Thr) c.3536T>C (p.Ile1179Thr) c.1856T>C (p.Ile619Thr) | |
| X | g.108666562T>G | CA413847801 | COL4A5 | c.3521T>G (p.Ile1174Ser) c.3197T>G (p.Ile1066Ser) c.1094T>G (p.Ile365Ser) c.3536T>G (p.Ile1179Ser) c.1856T>G (p.Ile619Ser) | |
| X | g.108666563T>A | CA517922394 | COL4A5 | c.3522T>A (p.Ile1174=) c.3198T>A (p.Ile1066=) c.1095T>A (p.Ile365=) c.3537T>A (p.Ile1179=) c.1857T>A (p.Ile619=) | |
| X | g.108666563T>C | CA517922392 | COL4A5 | c.3522T>C (p.Ile1174=) c.3198T>C (p.Ile1066=) c.1095T>C (p.Ile365=) c.3537T>C (p.Ile1179=) c.1857T>C (p.Ile619=) |