UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.110173914T>A | CA388664129 | COL4A1 | c.3491A>T (p.Glu1164Val) c.3299A>T (p.Glu1100Val) | |
| 13 | g.110173914T>C | CA388664130 | COL4A1 | c.3491A>G (p.Glu1164Gly) c.3299A>G (p.Glu1100Gly) | |
| 13 | g.110173914T>G | CA388664131 | COL4A1 | c.3491A>C (p.Glu1164Ala) c.3299A>C (p.Glu1100Ala) | |
| 13 | g.110173915C>A | CA388664132 | COL4A1 | c.3490G>T (p.Glu1164Ter) c.3298G>T (p.Glu1100Ter) | |
| 13 | g.110173915C>G | CA388664133 | COL4A1 | c.3490G>C (p.Glu1164Gln) c.3298G>C (p.Glu1100Gln) | |
| 13 | g.110173915C>T | CA388664134 | COL4A1 | c.3490G>A (p.Glu1164Lys) c.3298G>A (p.Glu1100Lys) | |
| 13 | g.110173916T>A | CA484789111 | COL4A1 | c.3489A>T (p.Gly1163=) c.3297A>T (p.Gly1099=) | |
| 13 | g.110173916T>C | CA484789112 | COL4A1 | c.3489A>G (p.Gly1163=) c.3297A>G (p.Gly1099=) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.110173916T>G | CA484789113 | COL4A1 | c.3489A>C (p.Gly1163=) c.3297A>C (p.Gly1099=) | |
| 13 | g.110173916T= | CA2118737036 | COL4A1 | c.3489A= (p.Gly1163=) c.3297A= (p.Gly1099=) | |
| 13 | g.110173917C>A | CA388664135 | COL4A1 | c.3488G>T (p.Gly1163Val) c.3296G>T (p.Gly1099Val) | |
| 13 | g.110173917C>G | CA388664136 | COL4A1 | c.3488G>C (p.Gly1163Ala) c.3296G>C (p.Gly1099Ala) | |
| 13 | g.110173917C>T | CA388664137 | COL4A1 | c.3488G>A (p.Gly1163Glu) c.3296G>A (p.Gly1099Glu) | ClinVar dbSNP |
| 13 | g.110173918C>A | CA388664138 | COL4A1 | c.3487G>T (p.Gly1163Ter) c.3295G>T (p.Gly1099Ter) | |
| 13 | g.110173918C>G | CA388664139 | COL4A1 | c.3487G>C (p.Gly1163Arg) c.3295G>C (p.Gly1099Arg) | |
| 13 | g.110173918C>T | CA388664140 | COL4A1 | c.3487G>A (p.Gly1163Arg) c.3295G>A (p.Gly1099Arg) | |
| 13 | g.110173919T>A | CA484789114 | COL4A1 | c.3486A>T (p.Ala1162=) c.3294A>T (p.Ala1098=) | |
| 13 | g.110173919T>C | CA484789115 | COL4A1 | c.3486A>G (p.Ala1162=) c.3294A>G (p.Ala1098=) | |
| 13 | g.110173919T>G | CA484789116 | COL4A1 | c.3486A>C (p.Ala1162=) c.3294A>C (p.Ala1098=) | |
| 13 | g.110173920G>A | CA7047257 | COL4A1 | c.3485C>T (p.Ala1162Val) c.3293C>T (p.Ala1098Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.110173920G>C | CA388664142 | COL4A1 | c.3485C>G (p.Ala1162Gly) c.3293C>G (p.Ala1098Gly) | |
| 13 | g.110173920G= | CA2118737038 | COL4A1 | c.3485C= (p.Ala1162=) c.3293C= (p.Ala1098=) | |
| 13 | g.110173920G>T | CA388664141 | COL4A1 | c.3485C>A (p.Ala1162Glu) c.3293C>A (p.Ala1098Glu) | gnomAD v4 |
| 13 | g.110173921C>A | CA388664143 | COL4A1 | c.3484G>T (p.Ala1162Ser) c.3292G>T (p.Ala1098Ser) | gnomAD v4 |
| 13 | g.110173921C= | CA2118737040 | COL4A1 | c.3484G= (p.Ala1162=) c.3292G= (p.Ala1098=) | |
| 13 | g.110173921C>G | CA388664144 | COL4A1 | c.3484G>C (p.Ala1162Pro) c.3292G>C (p.Ala1098Pro) | |
| 13 | g.110173921C>T | CA7047258 | COL4A1 | c.3484G>A (p.Ala1162Thr) c.3292G>A (p.Ala1098Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.110173922T>A | CA484789117 | COL4A1 | c.3483A>T (p.Ser1161=) c.3291A>T (p.Ser1097=) | |
| 13 | g.110173922T>C | CA484789118 | COL4A1 | c.3483A>G (p.Ser1161=) c.3291A>G (p.Ser1097=) | |
| 13 | g.110173922T>G | CA484789119 | COL4A1 | c.3483A>C (p.Ser1161=) c.3291A>C (p.Ser1097=) | |
| 13 | g.110173923G>A | CA388664145 | COL4A1 | c.3482C>T (p.Ser1161Leu) c.3290C>T (p.Ser1097Leu) | |
| 13 | g.110173923G>C | CA388664146 | COL4A1 | c.3482C>G (p.Ser1161Ter) c.3290C>G (p.Ser1097Ter) | |
| 13 | g.110173923G>T | CA388664147 | COL4A1 | c.3482C>A (p.Ser1161Ter) c.3290C>A (p.Ser1097Ter) | |
| 13 | g.110173924A= | CA2118737043 | COL4A1 | c.3481T= (p.Ser1161=) c.3289T= (p.Ser1097=) | |
| 13 | g.110173924A>C | CA388664148 | COL4A1 | c.3481T>G (p.Ser1161Ala) c.3289T>G (p.Ser1097Ala) | |
| 13 | g.110173924A>G | CA388664149 | COL4A1 | c.3481T>C (p.Ser1161Pro) c.3289T>C (p.Ser1097Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.110173924A>T | CA388664150 | COL4A1 | c.3481T>A (p.Ser1161Thr) c.3289T>A (p.Ser1097Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.110173925C>A | CA484789120 | COL4A1 | c.3480G>T (p.Gly1160=) c.3288G>T (p.Gly1096=) | |
| 13 | g.110173925C= | CA2118737046 | COL4A1 | c.3480G= (p.Gly1160=) c.3288G= (p.Gly1096=) | |
| 13 | g.110173925C>G | CA484789121 | COL4A1 | c.3480G>C (p.Gly1160=) c.3288G>C (p.Gly1096=) | |
| 13 | g.110173925C>T | CA7047259 | COL4A1 | c.3480G>A (p.Gly1160=) c.3288G>A (p.Gly1096=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.110173928del | CA2580616535 | COL4A1 | c.3480del (p.Ser1161GlnfsTer?) c.3288del (p.Ser1097GlnfsTer?) | ClinVar |
| 13 | g.110173926C>A | CA388664151 | COL4A1 | c.3479G>T (p.Gly1160Val) c.3287G>T (p.Gly1096Val) | COSMIC COSMIC |
| 13 | g.110173926C>G | CA388664152 | COL4A1 | c.3479G>C (p.Gly1160Ala) c.3287G>C (p.Gly1096Ala) | |
| 13 | g.110173926C>T | CA388664153 | COL4A1 | c.3479G>A (p.Gly1160Glu) c.3287G>A (p.Gly1096Glu) | |
| 13 | g.110173927C>A | CA388664156 | COL4A1 | c.3478G>T (p.Gly1160Trp) c.3286G>T (p.Gly1096Trp) | |
| 13 | g.110173927C>G | CA388664154 | COL4A1 | c.3478G>C (p.Gly1160Arg) c.3286G>C (p.Gly1096Arg) | |
| 13 | g.110173927C>T | CA388664155 | COL4A1 | c.3478G>A (p.Gly1160Arg) c.3286G>A (p.Gly1096Arg) | |
| 13 | g.110173928C>A | CA484789122 | COL4A1 | c.3477G>T (p.Pro1159=) c.3285G>T (p.Pro1095=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110173928C= | CA2118737048 | COL4A1 | c.3477G= (p.Pro1159=) c.3285G= (p.Pro1095=) | |
| 13 | g.110173928C>G | CA484789123 | COL4A1 | c.3477G>C (p.Pro1159=) c.3285G>C (p.Pro1095=) | |
| 13 | g.110173928C>T | CA7047260 | COL4A1 | c.3477G>A (p.Pro1159=) c.3285G>A (p.Pro1095=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110173929G>A | CA256253465 | COL4A1 | c.3476C>T (p.Pro1159Leu) c.3284C>T (p.Pro1095Leu) | dbSNP gnomAD v4 |
| 13 | g.110173929G>C | CA388664157 | COL4A1 | c.3476C>G (p.Pro1159Arg) c.3284C>G (p.Pro1095Arg) | gnomAD v4 |
| 13 | g.110173929G= | CA2118737050 | COL4A1 | c.3476C= (p.Pro1159=) c.3284C= (p.Pro1095=) | |
| 13 | g.110173929G>T | CA388664158 | COL4A1 | c.3476C>A (p.Pro1159Gln) c.3284C>A (p.Pro1095Gln) | gnomAD v4 |
| 13 | g.110173929_110173930delinsAA | CA645573516 | COL4A1 | c.3475_3476delinsTT (p.Pro1159Leu) c.3283_3284delinsTT (p.Pro1095Leu) | COSMIC COSMIC |
| 13 | g.110173930G>A | CA388664159 | COL4A1 | c.3475C>T (p.Pro1159Ser) c.3283C>T (p.Pro1095Ser) | |
| 13 | g.110173930G>C | CA388664160 | COL4A1 | c.3475C>G (p.Pro1159Ala) c.3283C>G (p.Pro1095Ala) | |
| 13 | g.110173930G>T | CA388664161 | COL4A1 | c.3475C>A (p.Pro1159Thr) c.3283C>A (p.Pro1095Thr) | |
| 13 | g.110173931G>A | CA484789124 | COL4A1 | c.3474C>T (p.Ile1158=) c.3282C>T (p.Ile1094=) | COSMIC COSMIC |
| 13 | g.110173931G>C | CA388664162 | COL4A1 | c.3474C>G (p.Ile1158Met) c.3282C>G (p.Ile1094Met) | |
| 13 | g.110173931G= | CA2118737053 | COL4A1 | c.3474C= (p.Ile1158=) c.3282C= (p.Ile1094=) | |
| 13 | g.110173931G>T | CA484789125 | COL4A1 | c.3474C>A (p.Ile1158=) c.3282C>A (p.Ile1094=) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.110173932A>C | CA388664163 | COL4A1 | c.3473T>G (p.Ile1158Ser) c.3281T>G (p.Ile1094Ser) | |
| 13 | g.110173932A>G | CA388664164 | COL4A1 | c.3473T>C (p.Ile1158Thr) c.3281T>C (p.Ile1094Thr) | |
| 13 | g.110173932A>T | CA388664165 | COL4A1 | c.3473T>A (p.Ile1158Asn) c.3281T>A (p.Ile1094Asn) | |
| 13 | g.110173933T>A | CA388664166 | COL4A1 | c.3472A>T (p.Ile1158Phe) c.3280A>T (p.Ile1094Phe) | |
| 13 | g.110173933T>C | CA256253469 | COL4A1 | c.3472A>G (p.Ile1158Val) c.3280A>G (p.Ile1094Val) | ClinVar dbSNP |
| 13 | g.110173933T>G | CA388664167 | COL4A1 | c.3472A>C (p.Ile1158Leu) c.3280A>C (p.Ile1094Leu) | |
| 13 | g.110173933T= | CA2118737055 | COL4A1 | c.3472A= (p.Ile1158=) c.3280A= (p.Ile1094=) | |
| 13 | g.110173934T>A | CA484789126 | COL4A1 | c.3471A>T (p.Gly1157=) c.3279A>T (p.Gly1093=) | |
| 13 | g.110173934T>C | CA484789127 | COL4A1 | c.3471A>G (p.Gly1157=) c.3279A>G (p.Gly1093=) | |
| 13 | g.110173934T>G | CA484789128 | COL4A1 | c.3471A>C (p.Gly1157=) c.3279A>C (p.Gly1093=) | gnomAD v4 |
| 13 | g.110173935C>A | CA388664168 | COL4A1 | c.3470G>T (p.Gly1157Val) c.3278G>T (p.Gly1093Val) | |
| 13 | g.110173935C>G | CA388664170 | COL4A1 | c.3470G>C (p.Gly1157Ala) c.3278G>C (p.Gly1093Ala) | |
| 13 | g.110173935C>T | CA388664169 | COL4A1 | c.3470G>A (p.Gly1157Glu) c.3278G>A (p.Gly1093Glu) | |
| 13 | g.110173936C>A | CA388664171 | COL4A1 | c.3469G>T (p.Gly1157Ter) c.3277G>T (p.Gly1093Ter) | |
| 13 | g.110173936C>G | CA388664172 | COL4A1 | c.3469G>C (p.Gly1157Arg) c.3277G>C (p.Gly1093Arg) | |
| 13 | g.110173936C>T | CA388664173 | COL4A1 | c.3469G>A (p.Gly1157Arg) c.3277G>A (p.Gly1093Arg) | |
| 13 | g.110173937A= | CA2118737057 | COL4A1 | c.3468T= (p.Asp1156=) c.3276T= (p.Asp1092=) | |
| 13 | g.110173937A>C | CA388664174 | COL4A1 | c.3468T>G (p.Asp1156Glu) c.3276T>G (p.Asp1092Glu) | |
| 13 | g.110173937A>G | CA484789129 | COL4A1 | c.3468T>C (p.Asp1156=) c.3276T>C (p.Asp1092=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 13 | g.110173937A>T | CA388664175 | COL4A1 | c.3468T>A (p.Asp1156Glu) c.3276T>A (p.Asp1092Glu) | |
| 13 | g.110173938T>A | CA388664176 | COL4A1 | c.3467A>T (p.Asp1156Val) c.3275A>T (p.Asp1092Val) | ClinVar |
| 13 | g.110173938T>C | CA388664177 | COL4A1 | c.3467A>G (p.Asp1156Gly) c.3275A>G (p.Asp1092Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110173938T>G | CA388664178 | COL4A1 | c.3467A>C (p.Asp1156Ala) c.3275A>C (p.Asp1092Ala) | |
| 13 | g.110173938T= | CA2118737059 | COL4A1 | c.3467A= (p.Asp1156=) c.3275A= (p.Asp1092=) | |
| 13 | g.110173939C>A | CA388664179 | COL4A1 | c.3466G>T (p.Asp1156Tyr) c.3274G>T (p.Asp1092Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110173939C= | CA2118737061 | COL4A1 | c.3466G= (p.Asp1156=) c.3274G= (p.Asp1092=) | |
| 13 | g.110173939C>G | CA388664180 | COL4A1 | c.3466G>C (p.Asp1156His) c.3274G>C (p.Asp1092His) | |
| 13 | g.110173939C>T | CA388664181 | COL4A1 | c.3466G>A (p.Asp1156Asn) c.3274G>A (p.Asp1092Asn) | dbSNP gnomAD v4 |
| 13 | g.110173940A= | CA2118737063 | COL4A1 | c.3465T= (p.Ser1155=) c.3273T= (p.Ser1091=) | |
| 13 | g.110173940A>C | CA388664182 | COL4A1 | c.3465T>G (p.Ser1155Arg) c.3273T>G (p.Ser1091Arg) | |
| 13 | g.110173940A>G | CA484789130 | COL4A1 | c.3465T>C (p.Ser1155=) c.3273T>C (p.Ser1091=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110173940A>T | CA388664183 | COL4A1 | c.3465T>A (p.Ser1155Arg) c.3273T>A (p.Ser1091Arg) | |
| 13 | g.110173941C>A | CA388664186 | COL4A1 | c.3464G>T (p.Ser1155Ile) c.3272G>T (p.Ser1091Ile) | |
| 13 | g.110173941C>G | CA388664184 | COL4A1 | c.3464G>C (p.Ser1155Thr) c.3272G>C (p.Ser1091Thr) | |
| 13 | g.110173941C>T | CA388664185 | COL4A1 | c.3464G>A (p.Ser1155Asn) c.3272G>A (p.Ser1091Asn) | |
| 13 | g.110173942T>A | CA388664187 | COL4A1 | c.3463A>T (p.Ser1155Cys) c.3271A>T (p.Ser1091Cys) | |
| 13 | g.110173942T>C | CA7047261 | COL4A1 | c.3463A>G (p.Ser1155Gly) c.3271A>G (p.Ser1091Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110173942T>G | CA388664188 | COL4A1 | c.3463A>C (p.Ser1155Arg) c.3271A>C (p.Ser1091Arg) | |
| 13 | g.110173942T= | CA2118737066 | COL4A1 | c.3463A= (p.Ser1155=) c.3271A= (p.Ser1091=) | |
| 13 | g.110173943G>A | CA484789131 | COL4A1 | c.3462C>T (p.Gly1154=) c.3270C>T (p.Gly1090=) | dbSNP |
| 13 | g.110173943G>C | CA484789133 | COL4A1 | c.3462C>G (p.Gly1154=) c.3270C>G (p.Gly1090=) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.110173943G= | CA2118737067 | COL4A1 | c.3462C= (p.Gly1154=) c.3270C= (p.Gly1090=) | |
| 13 | g.110173943G>T | CA484789132 | COL4A1 | c.3462C>A (p.Gly1154=) c.3270C>A (p.Gly1090=) | |
| 13 | g.110173944C>A | CA388664189 | COL4A1 | c.3461G>T (p.Gly1154Val) c.3269G>T (p.Gly1090Val) | |
| 13 | g.110173944C>G | CA388664190 | COL4A1 | c.3461G>C (p.Gly1154Ala) c.3269G>C (p.Gly1090Ala) | |
| 13 | g.110173944C>T | CA388664191 | COL4A1 | c.3461G>A (p.Gly1154Asp) c.3269G>A (p.Gly1090Asp) | ClinVar dbSNP |
| 13 | g.110173945C>A | CA388664192 | COL4A1 | c.3460G>T (p.Gly1154Cys) c.3268G>T (p.Gly1090Cys) | |
| 13 | g.110173945C= | CA2118737069 | COL4A1 | c.3460G= (p.Gly1154=) c.3268G= (p.Gly1090=) | |
| 13 | g.110173945C>G | CA388664193 | COL4A1 | c.3460G>C (p.Gly1154Arg) c.3268G>C (p.Gly1090Arg) | |
| 13 | g.110173945C>T | CA388664194 | COL4A1 | c.3460G>A (p.Gly1154Ser) c.3268G>A (p.Gly1090Ser) | dbSNP |
| 13 | g.110173946T>A | CA484789134 | COL4A1 | c.3459A>T (p.Pro1153=) c.3267A>T (p.Pro1089=) | gnomAD v4 |
| 13 | g.110173946T>C | CA484789135 | COL4A1 | c.3459A>G (p.Pro1153=) c.3267A>G (p.Pro1089=) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.110173946T>G | CA484789136 | COL4A1 | c.3459A>C (p.Pro1153=) c.3267A>C (p.Pro1089=) | |
| 13 | g.110173946T= | CA2118737071 | COL4A1 | c.3459A= (p.Pro1153=) c.3267A= (p.Pro1089=) | |
| 13 | g.110173947G>A | CA388664195 | COL4A1 | c.3458C>T (p.Pro1153Leu) c.3266C>T (p.Pro1089Leu) | gnomAD v4 |
| 13 | g.110173947G>C | CA388664196 | COL4A1 | c.3458C>G (p.Pro1153Arg) c.3266C>G (p.Pro1089Arg) | |
| 13 | g.110173947G>T | CA388664197 | COL4A1 | c.3458C>A (p.Pro1153Gln) c.3266C>A (p.Pro1089Gln) | |
| 13 | g.110173948G>A | CA388664198 | COL4A1 | c.3457C>T (p.Pro1153Ser) c.3265C>T (p.Pro1089Ser) | ClinVar dbSNP gnomAD v4 |
| 13 | g.110173948G>C | CA388664200 | COL4A1 | c.3457C>G (p.Pro1153Ala) c.3265C>G (p.Pro1089Ala) | |
| 13 | g.110173948G= | CA2118737072 | COL4A1 | c.3457C= (p.Pro1153=) c.3265C= (p.Pro1089=) | |
| 13 | g.110173948G>T | CA388664199 | COL4A1 | c.3457C>A (p.Pro1153Thr) c.3265C>A (p.Pro1089Thr) | |
| 13 | g.110173949C>A | CA388664201 | COL4A1 | c.3456G>T (p.Glu1152Asp) c.3264G>T (p.Glu1088Asp) | ClinVar dbSNP |
| 13 | g.110173949C>G | CA388664202 | COL4A1 | c.3456G>C (p.Glu1152Asp) c.3264G>C (p.Glu1088Asp) | |
| 13 | g.110173949C>T | CA484789137 | COL4A1 | c.3456G>A (p.Glu1152=) c.3264G>A (p.Glu1088=) | |
| 13 | g.110173950T>A | CA388664203 | COL4A1 | c.3455A>T (p.Glu1152Val) c.3263A>T (p.Glu1088Val) | |
| 13 | g.110173950T>C | CA388664204 | COL4A1 | c.3455A>G (p.Glu1152Gly) c.3263A>G (p.Glu1088Gly) | |
| 13 | g.110173950T>G | CA388664205 | COL4A1 | c.3455A>C (p.Glu1152Ala) c.3263A>C (p.Glu1088Ala) | |
| 13 | g.110173951C>A | CA388664206 | COL4A1 | c.3454G>T (p.Glu1152Ter) c.3262G>T (p.Glu1088Ter) | |
| 13 | g.110173951C= | CA2118737074 | COL4A1 | c.3454G= (p.Glu1152=) c.3262G= (p.Glu1088=) | |
| 13 | g.110173951C>G | CA388664207 | COL4A1 | c.3454G>C (p.Glu1152Gln) c.3262G>C (p.Glu1088Gln) | |
| 13 | g.110173951C>T | CA388664208 | COL4A1 | c.3454G>A (p.Glu1152Lys) c.3262G>A (p.Glu1088Lys) | dbSNP COSMIC COSMIC |
| 13 | g.110173952C>A | CA484789138 | COL4A1 | c.3453G>T (p.Gly1151=) c.3261G>T (p.Gly1087=) | |
| 13 | g.110173952C= | CA2118737077 | COL4A1 | c.3453G= (p.Gly1151=) c.3261G= (p.Gly1087=) | |
| 13 | g.110173952C>G | CA484789139 | COL4A1 | c.3453G>C (p.Gly1151=) c.3261G>C (p.Gly1087=) | |
| 13 | g.110173952C>T | CA7047262 | COL4A1 | c.3453G>A (p.Gly1151=) c.3261G>A (p.Gly1087=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 13 | g.110173953C>A | CA388664209 | COL4A1 | c.3452G>T (p.Gly1151Val) c.3260G>T (p.Gly1087Val) | |
| 13 | g.110173953C>G | CA388664210 | COL4A1 | c.3452G>C (p.Gly1151Ala) c.3260G>C (p.Gly1087Ala) | |
| 13 | g.110173953C>T | CA388664211 | COL4A1 | c.3452G>A (p.Gly1151Glu) c.3260G>A (p.Gly1087Glu) | |
| 13 | g.110173954C>A | CA388664212 | COL4A1 | c.3451G>T (p.Gly1151Trp) c.3259G>T (p.Gly1087Trp) | |
| 13 | g.110173954C>G | CA388664214 | COL4A1 | c.3451G>C (p.Gly1151Arg) c.3259G>C (p.Gly1087Arg) | |
| 13 | g.110173954C>T | CA388664213 | COL4A1 | c.3451G>A (p.Gly1151Arg) c.3259G>A (p.Gly1087Arg) | |
| 13 | g.110173955T>A | CA388664215 | COL4A1 | c.3450A>T (p.Lys1150Asn) c.3258A>T (p.Lys1086Asn) | |
| 13 | g.110173955T>C | CA484789140 | COL4A1 | c.3450A>G (p.Lys1150=) c.3258A>G (p.Lys1086=) | ClinVar |
| 13 | g.110173955T>G | CA388664216 | COL4A1 | c.3450A>C (p.Lys1150Asn) c.3258A>C (p.Lys1086Asn) | |
| 13 | g.110173956T>A | CA388664217 | COL4A1 | c.3449A>T (p.Lys1150Ile) c.3257A>T (p.Lys1086Ile) | |
| 13 | g.110173956T>C | CA388664218 | COL4A1 | c.3449A>G (p.Lys1150Arg) c.3257A>G (p.Lys1086Arg) | |
| 13 | g.110173956T>G | CA388664219 | COL4A1 | c.3449A>C (p.Lys1150Thr) c.3257A>C (p.Lys1086Thr) | |
| 13 | g.110173957T>A | CA388664220 | COL4A1 | c.3448A>T (p.Lys1150Ter) c.3256A>T (p.Lys1086Ter) | |
| 13 | g.110173957T>C | CA388664221 | COL4A1 | c.3448A>G (p.Lys1150Glu) c.3256A>G (p.Lys1086Glu) | |
| 13 | g.110173957T>G | CA388664222 | COL4A1 | c.3448A>C (p.Lys1150Gln) c.3256A>C (p.Lys1086Gln) | |
| 13 | g.110173958C>A | CA388664223 | COL4A1 | c.3447G>T (p.Gln1149His) c.3255G>T (p.Gln1085His) | |
| 13 | g.110173958C= | CA2118737078 | COL4A1 | c.3447G= (p.Gln1149=) c.3255G= (p.Gln1085=) | |
| 13 | g.110173958C>G | CA388664224 | COL4A1 | c.3447G>C (p.Gln1149His) c.3255G>C (p.Gln1085His) | |
| 13 | g.110173958C>T | CA484789141 | COL4A1 | c.3447G>A (p.Gln1149=) c.3255G>A (p.Gln1085=) | dbSNP |
| 13 | g.110173959T>A | CA388664226 | COL4A1 | c.3446A>T (p.Gln1149Leu) c.3254A>T (p.Gln1085Leu) | |
| 13 | g.110173959T>C | CA388664227 | COL4A1 | c.3446A>G (p.Gln1149Arg) c.3254A>G (p.Gln1085Arg) | |
| 13 | g.110173959T>G | CA388664225 | COL4A1 | c.3446A>C (p.Gln1149Pro) c.3254A>C (p.Gln1085Pro) | |
| 13 | g.110173960G>A | CA388664230 | COL4A1 | c.3445C>T (p.Gln1149Ter) c.3253C>T (p.Gln1085Ter) | |
| 13 | g.110173960G>C | CA388664228 | COL4A1 | c.3445C>G (p.Gln1149Glu) c.3253C>G (p.Gln1085Glu) | |
| 13 | g.110173960G>T | CA388664229 | COL4A1 | c.3445C>A (p.Gln1149Lys) c.3253C>A (p.Gln1085Lys) | |
| 13 | g.110173961G>A | CA484789142 | COL4A1 | c.3444C>T (p.Gly1148=) c.3252C>T (p.Gly1084=) | |
| 13 | g.110173961G>C | CA484789143 | COL4A1 | c.3444C>G (p.Gly1148=) c.3252C>G (p.Gly1084=) | |
| 13 | g.110173961G>T | CA484789144 | COL4A1 | c.3444C>A (p.Gly1148=) c.3252C>A (p.Gly1084=) | |
| 13 | g.110173962C>A | CA388664231 | COL4A1 | c.3443G>T (p.Gly1148Val) c.3251G>T (p.Gly1084Val) | ClinVar |
| 13 | g.110173962C= | CA2118737080 | COL4A1 | c.3443G= (p.Gly1148=) c.3251G= (p.Gly1084=) | |
| 13 | g.110173962C>G | CA388664232 | COL4A1 | c.3443G>C (p.Gly1148Ala) c.3251G>C (p.Gly1084Ala) | |
| 13 | g.110173962C>T | CA388664233 | COL4A1 | c.3443G>A (p.Gly1148Asp) c.3251G>A (p.Gly1084Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.110173963C>A | CA388664234 | COL4A1 | c.3442G>T (p.Gly1148Cys) c.3250G>T (p.Gly1084Cys) | |
| 13 | g.110173963C>G | CA388664235 | COL4A1 | c.3442G>C (p.Gly1148Arg) c.3250G>C (p.Gly1084Arg) | |
| 13 | g.110173963C>T | CA388664236 | COL4A1 | c.3442G>A (p.Gly1148Ser) c.3250G>A (p.Gly1084Ser) | |
| 13 | g.110173964A>C | CA484789145 | COL4A1 | c.3441T>G (p.Ala1147=) c.3249T>G (p.Ala1083=) | |
| 13 | g.110173964A>G | CA484789146 | COL4A1 | c.3441T>C (p.Ala1147=) c.3249T>C (p.Ala1083=) | |
| 13 | g.110173964A>T | CA484789147 | COL4A1 | c.3441T>A (p.Ala1147=) c.3249T>A (p.Ala1083=) | |
| 13 | g.110173965G>A | CA388664237 | COL4A1 | c.3440C>T (p.Ala1147Val) c.3248C>T (p.Ala1083Val) | |
| 13 | g.110173965G>C | CA388664238 | COL4A1 | c.3440C>G (p.Ala1147Gly) c.3248C>G (p.Ala1083Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.110173965G= | CA2118737082 | COL4A1 | c.3440C= (p.Ala1147=) c.3248C= (p.Ala1083=) | |
| 13 | g.110173965G>T | CA388664239 | COL4A1 | c.3440C>A (p.Ala1147Asp) c.3248C>A (p.Ala1083Asp) | |
| 13 | g.110173966C>A | CA388664242 | COL4A1 | c.3439G>T (p.Ala1147Ser) c.3247G>T (p.Ala1083Ser) | |
| 13 | g.110173966C= | CA2118737085 | COL4A1 | c.3439G= (p.Ala1147=) c.3247G= (p.Ala1083=) | |
| 13 | g.110173966C>G | CA388664241 | COL4A1 | c.3439G>C (p.Ala1147Pro) c.3247G>C (p.Ala1083Pro) | |
| 13 | g.110173966C>T | CA388664240 | COL4A1 | c.3439G>A (p.Ala1147Thr) c.3247G>A (p.Ala1083Thr) | dbSNP gnomAD v4 |
| 13 | g.110173967T>A | CA484789148 | COL4A1 | c.3438A>T (p.Pro1146=) c.3246A>T (p.Pro1082=) | |
| 13 | g.110173967T>C | CA484789149 | COL4A1 | c.3438A>G (p.Pro1146=) c.3246A>G (p.Pro1082=) | |
| 13 | g.110173967T>G | CA484789150 | COL4A1 | c.3438A>C (p.Pro1146=) c.3246A>C (p.Pro1082=) | |
| 13 | g.110173968G>A | CA388664243 | COL4A1 | c.3437C>T (p.Pro1146Leu) c.3245C>T (p.Pro1082Leu) | |
| 13 | g.110173968G>C | CA388664244 | COL4A1 | c.3437C>G (p.Pro1146Arg) c.3245C>G (p.Pro1082Arg) | |
| 13 | g.110173968G>T | CA388664245 | COL4A1 | c.3437C>A (p.Pro1146Gln) c.3245C>A (p.Pro1082Gln) | |
| 13 | g.110173969G>A | CA388664246 | COL4A1 | c.3436C>T (p.Pro1146Ser) c.3244C>T (p.Pro1082Ser) | |
| 13 | g.110173969G>C | CA388664247 | COL4A1 | c.3436C>G (p.Pro1146Ala) c.3244C>G (p.Pro1082Ala) | |
| 13 | g.110173969G>T | CA388664248 | COL4A1 | c.3436C>A (p.Pro1146Thr) c.3244C>A (p.Pro1082Thr) | |
| 13 | g.110173970G>A | CA484789151 | COL4A1 | c.3435C>T (p.Gly1145=) c.3243C>T (p.Gly1081=) | |
| 13 | g.110173970G>C | CA484789152 | COL4A1 | c.3435C>G (p.Gly1145=) c.3243C>G (p.Gly1081=) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.110173970G= | CA2118737088 | COL4A1 | c.3435C= (p.Gly1145=) c.3243C= (p.Gly1081=) | |
| 13 | g.110173970G>T | CA484789153 | COL4A1 | c.3435C>A (p.Gly1145=) c.3243C>A (p.Gly1081=) | |
| 13 | g.110173971C>A | CA388664249 | COL4A1 | c.3434G>T (p.Gly1145Val) c.3242G>T (p.Gly1081Val) | |
| 13 | g.110173971C>G | CA388664250 | COL4A1 | c.3434G>C (p.Gly1145Ala) c.3242G>C (p.Gly1081Ala) | |
| 13 | g.110173971C>T | CA388664251 | COL4A1 | c.3434G>A (p.Gly1145Asp) c.3242G>A (p.Gly1081Asp) | |
| 13 | g.110173972C>A | CA388664252 | COL4A1 | c.3433G>T (p.Gly1145Cys) c.3241G>T (p.Gly1081Cys) | |
| 13 | g.110173972C>G | CA388664253 | COL4A1 | c.3433G>C (p.Gly1145Arg) c.3241G>C (p.Gly1081Arg) | |
| 13 | g.110173972C>T | CA388664254 | COL4A1 | c.3433G>A (p.Gly1145Ser) c.3241G>A (p.Gly1081Ser) | |
| 13 | g.110173973T>A | CA484789154 | COL4A1 | c.3432A>T (p.Thr1144=) c.3240A>T (p.Thr1080=) | |
| 13 | g.110173973T>C | CA484789155 | COL4A1 | c.3432A>G (p.Thr1144=) c.3240A>G (p.Thr1080=) | |
| 13 | g.110173973T>G | CA484789156 | COL4A1 | c.3432A>C (p.Thr1144=) c.3240A>C (p.Thr1080=) | |
| 13 | g.110173974G>A | CA388664256 | COL4A1 | c.3431C>T (p.Thr1144Ile) c.3239C>T (p.Thr1080Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.110173974G>C | CA7047263 | COL4A1 | c.3431C>G (p.Thr1144Arg) c.3239C>G (p.Thr1080Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110173974G= | CA2118737092 | COL4A1 | c.3431C= (p.Thr1144=) c.3239C= (p.Thr1080=) | |
| 13 | g.110173974G>T | CA388664255 | COL4A1 | c.3431C>A (p.Thr1144Lys) c.3239C>A (p.Thr1080Lys) | |
| 13 | g.110173975T>A | CA388664257 | COL4A1 | c.3430A>T (p.Thr1144Ser) c.3238A>T (p.Thr1080Ser) | |
| 13 | g.110173975T>C | CA388664258 | COL4A1 | c.3430A>G (p.Thr1144Ala) c.3238A>G (p.Thr1080Ala) | |
| 13 | g.110173975T>G | CA388664259 | COL4A1 | c.3430A>C (p.Thr1144Pro) c.3238A>C (p.Thr1080Pro) | |
| 13 | g.110173976G>A | CA484789157 | COL4A1 | c.3429C>T (p.Pro1143=) c.3237C>T (p.Pro1079=) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.110173976G>C | CA484789158 | COL4A1 | c.3429C>G (p.Pro1143=) c.3237C>G (p.Pro1079=) | |
| 13 | g.110173976G= | CA2118737095 | COL4A1 | c.3429C= (p.Pro1143=) c.3237C= (p.Pro1079=) | |
| 13 | g.110173976G>T | CA484789159 | COL4A1 | c.3429C>A (p.Pro1143=) c.3237C>A (p.Pro1079=) | |
| 13 | g.110173977G>A | CA388664260 | COL4A1 | c.3428C>T (p.Pro1143Leu) c.3236C>T (p.Pro1079Leu) | |
| 13 | g.110173977G>C | CA388664261 | COL4A1 | c.3428C>G (p.Pro1143Arg) c.3236C>G (p.Pro1079Arg) | |
| 13 | g.110173977G>T | CA388664262 | COL4A1 | c.3428C>A (p.Pro1143His) c.3236C>A (p.Pro1079His) | |
| 13 | g.110173978G>A | CA388664263 | COL4A1 | c.3427C>T (p.Pro1143Ser) c.3235C>T (p.Pro1079Ser) | gnomAD v4 |
| 13 | g.110173978G>C | CA388664264 | COL4A1 | c.3427C>G (p.Pro1143Ala) c.3235C>G (p.Pro1079Ala) | gnomAD v4 |
| 13 | g.110173978G>T | CA388664265 | COL4A1 | c.3427C>A (p.Pro1143Thr) c.3235C>A (p.Pro1079Thr) | |
| 13 | g.110173979G>A | CA484789161 | COL4A1 | c.3426C>T (p.Gly1142=) c.3234C>T (p.Gly1078=) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.110173979G>C | CA484789162 | COL4A1 | c.3426C>G (p.Gly1142=) c.3234C>G (p.Gly1078=) | |
| 13 | g.110173979G= | CA2118737097 | COL4A1 | c.3426C= (p.Gly1142=) c.3234C= (p.Gly1078=) | |
| 13 | g.110173979G>T | CA484789160 | COL4A1 | c.3426C>A (p.Gly1142=) c.3234C>A (p.Gly1078=) | dbSNP gnomAD v4 |
| 13 | g.110173980C>A | CA388664266 | COL4A1 | c.3425G>T (p.Gly1142Val) c.3233G>T (p.Gly1078Val) | |
| 13 | g.110173980C>G | CA388664267 | COL4A1 | c.3425G>C (p.Gly1142Ala) c.3233G>C (p.Gly1078Ala) | |
| 13 | g.110173980C>T | CA388664268 | COL4A1 | c.3425G>A (p.Gly1142Asp) c.3233G>A (p.Gly1078Asp) | |
| 13 | g.110173981C>A | CA388664270 | COL4A1 | c.3424G>T (p.Gly1142Cys) c.3232G>T (p.Gly1078Cys) | |
| 13 | g.110173981C>G | CA388664271 | COL4A1 | c.3424G>C (p.Gly1142Arg) c.3232G>C (p.Gly1078Arg) | |
| 13 | g.110173981C>T | CA388664269 | COL4A1 | c.3424G>A (p.Gly1142Ser) c.3232G>A (p.Gly1078Ser) | |
| 13 | g.110173982A>C | CA484789165 | COL4A1 | c.3423T>G (p.Pro1141=) c.3231T>G (p.Pro1077=) | |
| 13 | g.110173982A>G | CA484789163 | COL4A1 | c.3423T>C (p.Pro1141=) c.3231T>C (p.Pro1077=) | gnomAD v4 |
| 13 | g.110173982A>T | CA484789164 | COL4A1 | c.3423T>A (p.Pro1141=) c.3231T>A (p.Pro1077=) | |
| 13 | g.110173983G>A | CA388664272 | COL4A1 | c.3422C>T (p.Pro1141Leu) c.3230C>T (p.Pro1077Leu) | |
| 13 | g.110173983G>C | CA388664273 | COL4A1 | c.3422C>G (p.Pro1141Arg) c.3230C>G (p.Pro1077Arg) | |
| 13 | g.110173983G>T | CA388664274 | COL4A1 | c.3422C>A (p.Pro1141His) c.3230C>A (p.Pro1077His) | |
| 13 | g.110173984G>A | CA388664275 | COL4A1 | c.3421C>T (p.Pro1141Ser) c.3229C>T (p.Pro1077Ser) | |
| 13 | g.110173984G>C | CA256253488 | COL4A1 | c.3421C>G (p.Pro1141Ala) c.3229C>G (p.Pro1077Ala) | dbSNP |
| 13 | g.110173984G= | CA2118737099 | COL4A1 | c.3421C= (p.Pro1141=) c.3229C= (p.Pro1077=) | |
| 13 | g.110173984G>T | CA388664276 | COL4A1 | c.3421C>A (p.Pro1141Thr) c.3229C>A (p.Pro1077Thr) | |
| 13 | g.110173985A>C | CA484789166 | COL4A1 | c.3420T>G (p.Thr1140=) c.3228T>G (p.Thr1076=) | |
| 13 | g.110173985A>G | CA484789168 | COL4A1 | c.3420T>C (p.Thr1140=) c.3228T>C (p.Thr1076=) | gnomAD v4 |
| 13 | g.110173985A>T | CA484789167 | COL4A1 | c.3420T>A (p.Thr1140=) c.3228T>A (p.Thr1076=) | |
| 13 | g.110173986G>A | CA388664279 | COL4A1 | c.3419C>T (p.Thr1140Ile) c.3227C>T (p.Thr1076Ile) | gnomAD v4 |
| 13 | g.110173986G>C | CA388664277 | COL4A1 | c.3419C>G (p.Thr1140Ser) c.3227C>G (p.Thr1076Ser) | |
| 13 | g.110173986G>T | CA388664278 | COL4A1 | c.3419C>A (p.Thr1140Asn) c.3227C>A (p.Thr1076Asn) | |
| 13 | g.110173987T>A | CA388664280 | COL4A1 | c.3418A>T (p.Thr1140Ser) c.3226A>T (p.Thr1076Ser) | |
| 13 | g.110173987T>C | CA388664281 | COL4A1 | c.3418A>G (p.Thr1140Ala) c.3226A>G (p.Thr1076Ala) | |
| 13 | g.110173987T>G | CA388664282 | COL4A1 | c.3418A>C (p.Thr1140Pro) c.3226A>C (p.Thr1076Pro) | gnomAD v4 |
| 13 | g.110173988C>A | CA484789169 | COL4A1 | c.3417G>T (p.Gly1139=) c.3225G>T (p.Gly1075=) | |
| 13 | g.110173988C>G | CA484789170 | COL4A1 | c.3417G>C (p.Gly1139=) c.3225G>C (p.Gly1075=) | |
| 13 | g.110173988C>T | CA484789171 | COL4A1 | c.3417G>A (p.Gly1139=) c.3225G>A (p.Gly1075=) | gnomAD v4 |
| 13 | g.110173989C>A | CA388664283 | COL4A1 | c.3416G>T (p.Gly1139Val) c.3224G>T (p.Gly1075Val) | |
| 13 | g.110173989C>G | CA388664284 | COL4A1 | c.3416G>C (p.Gly1139Ala) c.3224G>C (p.Gly1075Ala) | |
| 13 | g.110173989C>T | CA388664285 | COL4A1 | c.3416G>A (p.Gly1139Glu) c.3224G>A (p.Gly1075Glu) | |
| 13 | g.110173990C>A | CA388664287 | COL4A1 | c.3415G>T (p.Gly1139Trp) c.3223G>T (p.Gly1075Trp) | |
| 13 | g.110173990C>G | CA388664288 | COL4A1 | c.3415G>C (p.Gly1139Arg) c.3223G>C (p.Gly1075Arg) | |
| 13 | g.110173990C>T | CA388664286 | COL4A1 | c.3415G>A (p.Gly1139Arg) c.3223G>A (p.Gly1075Arg) | |
| 13 | g.110173991A= | CA2118737105 | COL4A1 | c.3414T= (p.Pro1138=) c.3222T= (p.Pro1074=) | |
| 13 | g.110173991A>C | CA484789172 | COL4A1 | c.3414T>G (p.Pro1138=) c.3222T>G (p.Pro1074=) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.110173991A>G | CA484789173 | COL4A1 | c.3414T>C (p.Pro1138=) c.3222T>C (p.Pro1074=) | gnomAD v4 |
| 13 | g.110173991A>T | CA484789174 | COL4A1 | c.3414T>A (p.Pro1138=) c.3222T>A (p.Pro1074=) | |
| 13 | g.110173992G>A | CA388664290 | COL4A1 | c.3413C>T (p.Pro1138Leu) c.3221C>T (p.Pro1074Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.110173992G>C | CA388664289 | COL4A1 | c.3413C>G (p.Pro1138Arg) c.3221C>G (p.Pro1074Arg) | gnomAD v4 |
| 13 | g.110173992G= | CA2118737107 | COL4A1 | c.3413C= (p.Pro1138=) c.3221C= (p.Pro1074=) | |
| 13 | g.110173992G>T | CA388664291 | COL4A1 | c.3413C>A (p.Pro1138His) c.3221C>A (p.Pro1074His) | |
| 13 | g.110173993G>A | CA388664292 | COL4A1 | c.3412C>T (p.Pro1138Ser) c.3220C>T (p.Pro1074Ser) | COSMIC COSMIC |
| 13 | g.110173993G>C | CA388664294 | COL4A1 | c.3412C>G (p.Pro1138Ala) c.3220C>G (p.Pro1074Ala) | |
| 13 | g.110173993G>T | CA388664293 | COL4A1 | c.3412C>A (p.Pro1138Thr) c.3220C>A (p.Pro1074Thr) | |
| 13 | g.110173994A>C | CA484789175 | COL4A1 | c.3411T>G (p.Leu1137=) c.3219T>G (p.Leu1073=) | |
| 13 | g.110173994A>G | CA484789176 | COL4A1 | c.3411T>C (p.Leu1137=) c.3219T>C (p.Leu1073=) | |
| 13 | g.110173994A>T | CA484789177 | COL4A1 | c.3411T>A (p.Leu1137=) c.3219T>A (p.Leu1073=) | |
| 13 | g.110173995A>C | CA388664295 | COL4A1 | c.3410T>G (p.Leu1137Arg) c.3218T>G (p.Leu1073Arg) | |
| 13 | g.110173995A>G | CA388664296 | COL4A1 | c.3410T>C (p.Leu1137Pro) c.3218T>C (p.Leu1073Pro) | |
| 13 | g.110173995A>T | CA388664297 | COL4A1 | c.3410T>A (p.Leu1137His) c.3218T>A (p.Leu1073His) | |
| 13 | g.110173996G>A | CA388664298 | COL4A1 | c.3409C>T (p.Leu1137Phe) c.3217C>T (p.Leu1073Phe) | |
| 13 | g.110173996G>C | CA388664299 | COL4A1 | c.3409C>G (p.Leu1137Val) c.3217C>G (p.Leu1073Val) | |
| 13 | g.110173996G>T | CA388664300 | COL4A1 | c.3409C>A (p.Leu1137Ile) c.3217C>A (p.Leu1073Ile) | |
| 13 | g.110173997A>C | CA484789178 | COL4A1 | c.3408T>G (p.Gly1136=) c.3216T>G (p.Gly1072=) | |
| 13 | g.110173997A>G | CA484789179 | COL4A1 | c.3408T>C (p.Gly1136=) c.3216T>C (p.Gly1072=) | |
| 13 | g.110173997A>T | CA484789180 | COL4A1 | c.3408T>A (p.Gly1136=) c.3216T>A (p.Gly1072=) | |
| 13 | g.110173998C>A | CA388664301 | COL4A1 | c.3407G>T (p.Gly1136Val) c.3215G>T (p.Gly1072Val) | |
| 13 | g.110173998C>G | CA388664302 | COL4A1 | c.3407G>C (p.Gly1136Ala) c.3215G>C (p.Gly1072Ala) | |
| 13 | g.110173998C>T | CA388664303 | COL4A1 | c.3407G>A (p.Gly1136Asp) c.3215G>A (p.Gly1072Asp) | |
| 13 | g.110173999C>A | CA388664304 | COL4A1 | c.3407-1G>T (n.3407-1G>T) c.3215-1G>T (n.3215-1G>T) | |
| 13 | g.110173999C>G | CA388664305 | COL4A1 | c.3407-1G>C (n.3407-1G>C) c.3215-1G>C (n.3215-1G>C) | |
| 13 | g.110173999C>T | CA388664306 | COL4A1 | c.3407-1G>A (n.3407-1G>A) c.3215-1G>A (n.3215-1G>A) | |
| 13 | g.110174000del | CA2573149428 | COL4A1 | c.3407-2del (n.3407-2del) c.3215-2del (n.3215-2del) | ClinVar dbSNP |
| 13 | g.110174000T>A | CA388664309 | COL4A1 | c.3407-2A>T (n.3407-2A>T) c.3215-2A>T (n.3215-2A>T) | |
| 13 | g.110174000T>C | CA388664307 | COL4A1 | c.3407-2A>G (n.3407-2A>G) c.3215-2A>G (n.3215-2A>G) | |
| 13 | g.110174000T>G | CA388664308 | COL4A1 | c.3407-2A>C (n.3407-2A>C) c.3215-2A>C (n.3215-2A>C) | |
| 13 | g.110174001C>T | CA2623673281 | COL4A1 | c.3407-3G>A (n.3407-3G>A) c.3215-3G>A (n.3215-3G>A) | gnomAD v4 |
| 13 | g.110174005G>A | CA2739277717 | COL4A1 | c.3407-7C>T (n.3407-7C>T) c.3215-7C>T (n.3215-7C>T) | ClinVar |
| 13 | g.110174005G>C | CA2623673282 | COL4A1 | c.3407-7C>G (n.3407-7C>G) c.3215-7C>G (n.3215-7C>G) | gnomAD v4 |
| 13 | g.110174010A= | CA2118737109 | COL4A1 | c.3407-12T= (n.3407-12T=) c.3215-12T= (n.3215-12T=) | |
| 13 | g.110174010A>G | CA7047264 | COL4A1 | c.3407-12T>C (n.3407-12T>C) c.3215-12T>C (n.3215-12T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.110174012G>A | CA2118737112 | COL4A1 | c.3407-14C>T (n.3407-14C>T) c.3215-14C>T (n.3215-14C>T) | dbSNP |
| 13 | g.110174012G= | CA2118737110 | COL4A1 | c.3407-14C= (n.3407-14C=) c.3215-14C= (n.3215-14C=) | |
| 13 | g.110174013T>A | CA2623673283 | COL4A1 | c.3407-15A>T (n.3407-15A>T) c.3215-15A>T (n.3215-15A>T) | gnomAD v4 |
| 13 | g.110174014C>A | CA2697551929 | COL4A1 | c.3407-16G>T (n.3407-16G>T) c.3215-16G>T (n.3215-16G>T) | ClinVar |
| 13 | g.110174014C= | CA2118737113 | COL4A1 | c.3407-16G= (n.3407-16G=) c.3215-16G= (n.3215-16G=) | |
| 13 | g.110174014C>G | CA2118737114 | COL4A1 | c.3407-16G>C (n.3407-16G>C) c.3215-16G>C (n.3215-16G>C) | dbSNP gnomAD v4 |