Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108666504_108666516del | CA2695235646 | COL4A5 | c.3463_3475del (p.Gly1155AsnfsTer?) c.3139_3151del (p.Gly1047AsnfsTer?) c.1036_1048del (p.Gly346AsnfsTer?) c.3478_3490del (p.Gly1160AsnfsTer?) c.1798_1810del (p.Gly600AsnfsTer?) | |
X | g.108666512_108666513delinsTG | CA2450712316 | COL4A5 | c.3471_3472delinsTG (p.Pro1157=) c.3147_3148delinsTG (p.Pro1049=) c.1044_1045delinsTG (p.Pro348=) c.3486_3487delinsTG (p.Pro1162=) c.1806_1807delinsTG (p.Pro602=) | |
X | g.108666513G>A | CA413847677 | COL4A5 | c.3472G>A (p.Gly1158Arg) c.3148G>A (p.Gly1050Arg) c.1045G>A (p.Gly349Arg) c.3487G>A (p.Gly1163Arg) c.1807G>A (p.Gly603Arg) | |
X | g.108666513G>C | CA413847679 | COL4A5 | c.3472G>C (p.Gly1158Arg) c.3148G>C (p.Gly1050Arg) c.1045G>C (p.Gly349Arg) c.3487G>C (p.Gly1163Arg) c.1807G>C (p.Gly603Arg) | |
X | g.108666513G= | CA2450712317 | COL4A5 | c.3472G= (p.Gly1158=) c.3148G= (p.Gly1050=) c.1045G= (p.Gly349=) c.3487G= (p.Gly1163=) c.1807G= (p.Gly603=) | |
X | g.108666513G>T | CA258869 | COL4A5 | c.3472G>T (p.Gly1158Trp) c.3148G>T (p.Gly1050Trp) c.1045G>T (p.Gly349Trp) c.3487G>T (p.Gly1163Trp) c.1807G>T (p.Gly603Trp) | dbSNP gnomAD v4 |
X | g.108666515del | CA258873 | COL4A5 | c.3474del (p.Gln1159AsnfsTer?) c.3150del (p.Gln1051AsnfsTer?) c.1047del (p.Gln350AsnfsTer?) c.3489del (p.Gln1164AsnfsTer?) c.1809del (p.Gln604AsnfsTer?) | dbSNP |
X | g.108666514G>A | CA413847683 | COL4A5 | c.3473G>A (p.Gly1158Glu) c.3149G>A (p.Gly1050Glu) c.1046G>A (p.Gly349Glu) c.3488G>A (p.Gly1163Glu) c.1808G>A (p.Gly603Glu) | ClinVar dbSNP gnomAD v4 |
X | g.108666514G>C | CA413847685 | COL4A5 | c.3473G>C (p.Gly1158Ala) c.3149G>C (p.Gly1050Ala) c.1046G>C (p.Gly349Ala) c.3488G>C (p.Gly1163Ala) c.1808G>C (p.Gly603Ala) | |
X | g.108666514G= | CA2450712318 | COL4A5 | c.3473G= (p.Gly1158=) c.3149G= (p.Gly1050=) c.1046G= (p.Gly349=) c.3488G= (p.Gly1163=) c.1808G= (p.Gly603=) | |
X | g.108666514G>T | CA413847687 | COL4A5 | c.3473G>T (p.Gly1158Val) c.3149G>T (p.Gly1050Val) c.1046G>T (p.Gly349Val) c.3488G>T (p.Gly1163Val) c.1808G>T (p.Gly603Val) | gnomAD v4 |
X | g.108666514_108666515insT | CA517922324 | COL4A5 | c.3473_3474insT (p.Gln1159AlafsTer25) c.3149_3150insT (p.Gln1051AlafsTer25) c.1046_1047insT (p.Gln350AlafsTer25) c.3488_3489insT (p.Gln1164AlafsTer25) c.1808_1809insT (p.Gln604AlafsTer25) | |
X | g.108666515G>A | CA517922325 | COL4A5 | c.3474G>A (p.Gly1158=) c.3150G>A (p.Gly1050=) c.1047G>A (p.Gly349=) c.3489G>A (p.Gly1163=) c.1809G>A (p.Gly603=) | gnomAD v4 COSMIC COSMIC |
X | g.108666515G>C | CA517922326 | COL4A5 | c.3474G>C (p.Gly1158=) c.3150G>C (p.Gly1050=) c.1047G>C (p.Gly349=) c.3489G>C (p.Gly1163=) c.1809G>C (p.Gly603=) | |
X | g.108666515G>T | CA517922327 | COL4A5 | c.3474G>T (p.Gly1158=) c.3150G>T (p.Gly1050=) c.1047G>T (p.Gly349=) c.3489G>T (p.Gly1163=) c.1809G>T (p.Gly603=) | |
X | g.108666516C>A | CA413847694 | COL4A5 | c.3475C>A (p.Gln1159Lys) c.3151C>A (p.Gln1051Lys) c.1048C>A (p.Gln350Lys) c.3490C>A (p.Gln1164Lys) c.1810C>A (p.Gln604Lys) | |
X | g.108666516C= | CA2450712319 | COL4A5 | c.3475C= (p.Gln1159=) c.3151C= (p.Gln1051=) c.1048C= (p.Gln350=) c.3490C= (p.Gln1164=) c.1810C= (p.Gln604=) | |
X | g.108666516C>G | CA413847692 | COL4A5 | c.3475C>G (p.Gln1159Glu) c.3151C>G (p.Gln1051Glu) c.1048C>G (p.Gln350Glu) c.3490C>G (p.Gln1164Glu) c.1810C>G (p.Gln604Glu) | |
X | g.108666516C>T | CA413847690 | COL4A5 | c.3475C>T (p.Gln1159Ter) c.3151C>T (p.Gln1051Ter) c.1048C>T (p.Gln350Ter) c.3490C>T (p.Gln1164Ter) c.1810C>T (p.Gln604Ter) | ClinVar dbSNP |
X | g.108666517A= | CA2450712320 | COL4A5 | c.3476A= (p.Gln1159=) c.3152A= (p.Gln1051=) c.1049A= (p.Gln350=) c.3491A= (p.Gln1164=) c.1811A= (p.Gln604=) | |
X | g.108666517A>C | CA413847696 | COL4A5 | c.3476A>C (p.Gln1159Pro) c.3152A>C (p.Gln1051Pro) c.1049A>C (p.Gln350Pro) c.3491A>C (p.Gln1164Pro) c.1811A>C (p.Gln604Pro) | |
X | g.108666517A>G | CA413847698 | COL4A5 | c.3476A>G (p.Gln1159Arg) c.3152A>G (p.Gln1051Arg) c.1049A>G (p.Gln350Arg) c.3491A>G (p.Gln1164Arg) c.1811A>G (p.Gln604Arg) | dbSNP gnomAD v4 |
X | g.108666517A>T | CA413847699 | COL4A5 | c.3476A>T (p.Gln1159Leu) c.3152A>T (p.Gln1051Leu) c.1049A>T (p.Gln350Leu) c.3491A>T (p.Gln1164Leu) c.1811A>T (p.Gln604Leu) | |
X | g.108666517_108666518del | CA517922328 | COL4A5 | c.3476_3477del (p.Gln1159ProfsTer24) c.3152_3153del (p.Gln1051ProfsTer24) c.1049_1050del (p.Gln350ProfsTer24) c.3491_3492del (p.Gln1164ProfsTer24) c.1811_1812del (p.Gln604ProfsTer24) | |
X | g.108666518A>C | CA413847701 | COL4A5 | c.3477A>C (p.Gln1159His) c.3153A>C (p.Gln1051His) c.1050A>C (p.Gln350His) c.3492A>C (p.Gln1164His) c.1812A>C (p.Gln604His) | |
X | g.108666518A>G | CA517922329 | COL4A5 | c.3477A>G (p.Gln1159=) c.3153A>G (p.Gln1051=) c.1050A>G (p.Gln350=) c.3492A>G (p.Gln1164=) c.1812A>G (p.Gln604=) | |
X | g.108666518A>T | CA413847703 | COL4A5 | c.3477A>T (p.Gln1159His) c.3153A>T (p.Gln1051His) c.1050A>T (p.Gln350His) c.3492A>T (p.Gln1164His) c.1812A>T (p.Gln604His) | |
X | g.108666519C>A | CA413847705 | COL4A5 | c.3478C>A (p.Pro1160Thr) c.3154C>A (p.Pro1052Thr) c.1051C>A (p.Pro351Thr) c.3493C>A (p.Pro1165Thr) c.1813C>A (p.Pro605Thr) | |
X | g.108666519C= | CA2450712321 | COL4A5 | c.3478C= (p.Pro1160=) c.3154C= (p.Pro1052=) c.1051C= (p.Pro351=) c.3493C= (p.Pro1165=) c.1813C= (p.Pro605=) | |
X | g.108666519C>G | CA413847707 | COL4A5 | c.3478C>G (p.Pro1160Ala) c.3154C>G (p.Pro1052Ala) c.1051C>G (p.Pro351Ala) c.3493C>G (p.Pro1165Ala) c.1813C>G (p.Pro605Ala) | |
X | g.108666519C>T | CA413847709 | COL4A5 | c.3478C>T (p.Pro1160Ser) c.3154C>T (p.Pro1052Ser) c.1051C>T (p.Pro351Ser) c.3493C>T (p.Pro1165Ser) c.1813C>T (p.Pro605Ser) | dbSNP |
X | g.108666519_108666520insG | CA517922330 | COL4A5 | c.3478_3479insG (p.Pro1160ArgfsTer24) c.3154_3155insG (p.Pro1052ArgfsTer24) c.1051_1052insG (p.Pro351ArgfsTer24) c.3493_3494insG (p.Pro1165ArgfsTer24) c.1813_1814insG (p.Pro605ArgfsTer24) | |
X | g.108666520C>A | CA413847712 | COL4A5 | c.3479C>A (p.Pro1160Gln) c.3155C>A (p.Pro1052Gln) c.1052C>A (p.Pro351Gln) c.3494C>A (p.Pro1165Gln) c.1814C>A (p.Pro605Gln) | |
X | g.108666520C= | CA2450712322 | COL4A5 | c.3479C= (p.Pro1160=) c.3155C= (p.Pro1052=) c.1052C= (p.Pro351=) c.3494C= (p.Pro1165=) c.1814C= (p.Pro605=) | |
X | g.108666520C>G | CA413847714 | COL4A5 | c.3479C>G (p.Pro1160Arg) c.3155C>G (p.Pro1052Arg) c.1052C>G (p.Pro351Arg) c.3494C>G (p.Pro1165Arg) c.1814C>G (p.Pro605Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108666520C>T | CA413847715 | COL4A5 | c.3479C>T (p.Pro1160Leu) c.3155C>T (p.Pro1052Leu) c.1052C>T (p.Pro351Leu) c.3494C>T (p.Pro1165Leu) c.1814C>T (p.Pro605Leu) | |
X | g.108666521A>C | CA517922331 | COL4A5 | c.3480A>C (p.Pro1160=) c.3156A>C (p.Pro1052=) c.1053A>C (p.Pro351=) c.3495A>C (p.Pro1165=) c.1815A>C (p.Pro605=) | |
X | g.108666521A>G | CA517922332 | COL4A5 | c.3480A>G (p.Pro1160=) c.3156A>G (p.Pro1052=) c.1053A>G (p.Pro351=) c.3495A>G (p.Pro1165=) c.1815A>G (p.Pro605=) | |
X | g.108666521A>T | CA517922333 | COL4A5 | c.3480A>T (p.Pro1160=) c.3156A>T (p.Pro1052=) c.1053A>T (p.Pro351=) c.3495A>T (p.Pro1165=) c.1815A>T (p.Pro605=) | |
X | g.108666522G>A | CA258874 | COL4A5 | c.3481G>A (p.Gly1161Arg) c.3157G>A (p.Gly1053Arg) c.1054G>A (p.Gly352Arg) c.3496G>A (p.Gly1166Arg) c.1816G>A (p.Gly606Arg) | ClinVar dbSNP gnomAD v4 |
X | g.108666522G>C | CA413847717 | COL4A5 | c.3481G>C (p.Gly1161Arg) c.3157G>C (p.Gly1053Arg) c.1054G>C (p.Gly352Arg) c.3496G>C (p.Gly1166Arg) c.1816G>C (p.Gly606Arg) | ClinVar dbSNP |
X | g.108666522G= | CA2450712323 | COL4A5 | c.3481G= (p.Gly1161=) c.3157G= (p.Gly1053=) c.1054G= (p.Gly352=) c.3496G= (p.Gly1166=) c.1816G= (p.Gly606=) | |
X | g.108666522G>T | CA413847716 | COL4A5 | c.3481G>T (p.Gly1161Trp) c.3157G>T (p.Gly1053Trp) c.1054G>T (p.Gly352Trp) c.3496G>T (p.Gly1166Trp) c.1816G>T (p.Gly606Trp) | gnomAD v4 |
X | g.108666523G>A | CA413847718 | COL4A5 | c.3482G>A (p.Gly1161Glu) c.3158G>A (p.Gly1053Glu) c.1055G>A (p.Gly352Glu) c.3497G>A (p.Gly1166Glu) c.1817G>A (p.Gly606Glu) | ClinVar dbSNP |
X | g.108666523G>C | CA413847719 | COL4A5 | c.3482G>C (p.Gly1161Ala) c.3158G>C (p.Gly1053Ala) c.1055G>C (p.Gly352Ala) c.3497G>C (p.Gly1166Ala) c.1817G>C (p.Gly606Ala) | |
X | g.108666523G= | CA2450712324 | COL4A5 | c.3482G= (p.Gly1161=) c.3158G= (p.Gly1053=) c.1055G= (p.Gly352=) c.3497G= (p.Gly1166=) c.1817G= (p.Gly606=) | |
X | g.108666523G>T | CA413847720 | COL4A5 | c.3482G>T (p.Gly1161Val) c.3158G>T (p.Gly1053Val) c.1055G>T (p.Gly352Val) c.3497G>T (p.Gly1166Val) c.1817G>T (p.Gly606Val) | gnomAD v4 |
X | g.108666524G>A | CA517922334 | COL4A5 | c.3483G>A (p.Gly1161=) c.3159G>A (p.Gly1053=) c.1056G>A (p.Gly352=) c.3498G>A (p.Gly1166=) c.1818G>A (p.Gly606=) | gnomAD v4 |
X | g.108666524G>C | CA517922335 | COL4A5 | c.3483G>C (p.Gly1161=) c.3159G>C (p.Gly1053=) c.1056G>C (p.Gly352=) c.3498G>C (p.Gly1166=) c.1818G>C (p.Gly606=) | |
X | g.108666524G>T | CA517922336 | COL4A5 | c.3483G>T (p.Gly1161=) c.3159G>T (p.Gly1053=) c.1056G>T (p.Gly352=) c.3498G>T (p.Gly1166=) c.1818G>T (p.Gly606=) |