Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.47680327C>A | CA406612140 | BICRA | c.1157C>A (p.Ala386Glu) c.431C>A (p.Ala144Glu) c.1001C>A (p.Ala334Glu) c.1019C>A (p.Ala340Glu) | gnomAD v4 |
19 | g.47680327C= | CA2339526557 | BICRA | c.1157C= (p.Ala386=) c.431C= (p.Ala144=) c.1001C= (p.Ala334=) c.1019C= (p.Ala340=) | |
19 | g.47680327C>G | CA406612142 | BICRA | c.1157C>G (p.Ala386Gly) c.431C>G (p.Ala144Gly) c.1001C>G (p.Ala334Gly) c.1019C>G (p.Ala340Gly) | gnomAD v4 |
19 | g.47680327C>T | CA406612141 | BICRA | c.1157C>T (p.Ala386Val) c.431C>T (p.Ala144Val) c.1001C>T (p.Ala334Val) c.1019C>T (p.Ala340Val) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.47680328G>A | CA9541669 | BICRA | c.1158G>A (p.Ala386=) c.432G>A (p.Ala144=) c.1002G>A (p.Ala334=) c.1020G>A (p.Ala340=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.47680328G>C | CA508257622 | BICRA | c.1158G>C (p.Ala386=) c.432G>C (p.Ala144=) c.1002G>C (p.Ala334=) c.1020G>C (p.Ala340=) | |
19 | g.47680328G= | CA2339526558 | BICRA | c.1158G= (p.Ala386=) c.432G= (p.Ala144=) c.1002G= (p.Ala334=) c.1020G= (p.Ala340=) | |
19 | g.47680328G>T | CA9541670 | BICRA | c.1158G>T (p.Ala386=) c.432G>T (p.Ala144=) c.1002G>T (p.Ala334=) c.1020G>T (p.Ala340=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.47680329C>A | CA406612143 | BICRA | c.1159C>A (p.Leu387Ile) c.433C>A (p.Leu145Ile) c.1003C>A (p.Leu335Ile) c.1021C>A (p.Leu341Ile) | gnomAD v4 |
19 | g.47680329C>G | CA406612144 | BICRA | c.1159C>G (p.Leu387Val) c.433C>G (p.Leu145Val) c.1003C>G (p.Leu335Val) c.1021C>G (p.Leu341Val) | |
19 | g.47680329C>T | CA406612145 | BICRA | c.1159C>T (p.Leu387Phe) c.433C>T (p.Leu145Phe) c.1003C>T (p.Leu335Phe) c.1021C>T (p.Leu341Phe) | gnomAD v4 |
19 | g.47680330T>A | CA406612146 | BICRA | c.1160T>A (p.Leu387His) c.434T>A (p.Leu145His) c.1004T>A (p.Leu335His) c.1022T>A (p.Leu341His) | |
19 | g.47680330T>C | CA9541671 | BICRA | c.1160T>C (p.Leu387Pro) c.434T>C (p.Leu145Pro) c.1004T>C (p.Leu335Pro) c.1022T>C (p.Leu341Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.47680330T>G | CA406612147 | BICRA | c.1160T>G (p.Leu387Arg) c.434T>G (p.Leu145Arg) c.1004T>G (p.Leu335Arg) c.1022T>G (p.Leu341Arg) | |
19 | g.47680330T= | CA2339526559 | BICRA | c.1160T= (p.Leu387=) c.434T= (p.Leu145=) c.1004T= (p.Leu335=) c.1022T= (p.Leu341=) | |
19 | g.47680331C>A | CA508257623 | BICRA | c.1161C>A (p.Leu387=) c.435C>A (p.Leu145=) c.1005C>A (p.Leu335=) c.1023C>A (p.Leu341=) | gnomAD v4 |
19 | g.47680331C= | CA2339526560 | BICRA | c.1161C= (p.Leu387=) c.435C= (p.Leu145=) c.1005C= (p.Leu335=) c.1023C= (p.Leu341=) | |
19 | g.47680331C>G | CA9541672 | BICRA | c.1161C>G (p.Leu387=) c.435C>G (p.Leu145=) c.1005C>G (p.Leu335=) c.1023C>G (p.Leu341=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.47680331C>T | CA508257624 | BICRA | c.1161C>T (p.Leu387=) c.435C>T (p.Leu145=) c.1005C>T (p.Leu335=) c.1023C>T (p.Leu341=) | dbSNP gnomAD v4 |
19 | g.47680332C>A | CA406612148 | BICRA | c.1162C>A (p.Pro388Thr) c.436C>A (p.Pro146Thr) c.1006C>A (p.Pro336Thr) c.1024C>A (p.Pro342Thr) | gnomAD v4 |
19 | g.47680332C= | CA2339526561 | BICRA | c.1162C= (p.Pro388=) c.436C= (p.Pro146=) c.1006C= (p.Pro336=) c.1024C= (p.Pro342=) | |
19 | g.47680332C>G | CA406612149 | BICRA | c.1162C>G (p.Pro388Ala) c.436C>G (p.Pro146Ala) c.1006C>G (p.Pro336Ala) c.1024C>G (p.Pro342Ala) | |
19 | g.47680332C>T | CA406612150 | BICRA | c.1162C>T (p.Pro388Ser) c.436C>T (p.Pro146Ser) c.1006C>T (p.Pro336Ser) c.1024C>T (p.Pro342Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.47680333C>A | CA406612152 | BICRA | c.1163C>A (p.Pro388Gln) c.437C>A (p.Pro146Gln) c.1007C>A (p.Pro336Gln) c.1025C>A (p.Pro342Gln) | gnomAD v4 |
19 | g.47680333C= | CA2339526562 | BICRA | c.1163C= (p.Pro388=) c.437C= (p.Pro146=) c.1007C= (p.Pro336=) c.1025C= (p.Pro342=) | |
19 | g.47680333C>G | CA406612151 | BICRA | c.1163C>G (p.Pro388Arg) c.437C>G (p.Pro146Arg) c.1007C>G (p.Pro336Arg) c.1025C>G (p.Pro342Arg) | |
19 | g.47680333C>T | CA309233434 | BICRA | c.1163C>T (p.Pro388Leu) c.437C>T (p.Pro146Leu) c.1007C>T (p.Pro336Leu) c.1025C>T (p.Pro342Leu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.47680334G>A | CA508257625 | BICRA | c.1164G>A (p.Pro388=) c.438G>A (p.Pro146=) c.1008G>A (p.Pro336=) c.1026G>A (p.Pro342=) | dbSNP gnomAD v4 |
19 | g.47680334G>C | CA508257626 | BICRA | c.1164G>C (p.Pro388=) c.438G>C (p.Pro146=) c.1008G>C (p.Pro336=) c.1026G>C (p.Pro342=) | gnomAD v4 |
19 | g.47680334G= | CA2339526563 | BICRA | c.1164G= (p.Pro388=) c.438G= (p.Pro146=) c.1008G= (p.Pro336=) c.1026G= (p.Pro342=) | |
19 | g.47680334G>T | CA508257627 | BICRA | c.1164G>T (p.Pro388=) c.438G>T (p.Pro146=) c.1008G>T (p.Pro336=) c.1026G>T (p.Pro342=) | gnomAD v4 |
19 | g.47680335C>A | CA406612153 | BICRA | c.1165C>A (p.Gln389Lys) c.439C>A (p.Gln147Lys) c.1009C>A (p.Gln337Lys) c.1027C>A (p.Gln343Lys) | gnomAD v4 |
19 | g.47680335C>G | CA406612154 | BICRA | c.1165C>G (p.Gln389Glu) c.439C>G (p.Gln147Glu) c.1009C>G (p.Gln337Glu) c.1027C>G (p.Gln343Glu) | |
19 | g.47680335C>T | CA406612155 | BICRA | c.1165C>T (p.Gln389Ter) c.439C>T (p.Gln147Ter) c.1009C>T (p.Gln337Ter) c.1027C>T (p.Gln343Ter) | |
19 | g.47680336A= | CA2339526564 | BICRA | c.1166A= (p.Gln389=) c.440A= (p.Gln147=) c.1010A= (p.Gln337=) c.1028A= (p.Gln343=) | |
19 | g.47680336A>C | CA406612156 | BICRA | c.1166A>C (p.Gln389Pro) c.440A>C (p.Gln147Pro) c.1010A>C (p.Gln337Pro) c.1028A>C (p.Gln343Pro) | gnomAD v4 |
19 | g.47680336A>G | CA406612157 | BICRA | c.1166A>G (p.Gln389Arg) c.440A>G (p.Gln147Arg) c.1010A>G (p.Gln337Arg) c.1028A>G (p.Gln343Arg) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.47680336A>T | CA406612158 | BICRA | c.1166A>T (p.Gln389Leu) c.440A>T (p.Gln147Leu) c.1010A>T (p.Gln337Leu) c.1028A>T (p.Gln343Leu) | |
19 | g.47680337G>A | CA508257628 | BICRA | c.1167G>A (p.Gln389=) c.441G>A (p.Gln147=) c.1011G>A (p.Gln337=) c.1029G>A (p.Gln343=) | dbSNP gnomAD v4 |
19 | g.47680337G>C | CA406612159 | BICRA | c.1167G>C (p.Gln389His) c.441G>C (p.Gln147His) c.1011G>C (p.Gln337His) c.1029G>C (p.Gln343His) | |
19 | g.47680337G>T | CA406612160 | BICRA | c.1167G>T (p.Gln389His) c.441G>T (p.Gln147His) c.1011G>T (p.Gln337His) c.1029G>T (p.Gln343His) | gnomAD v4 |
19 | g.47680338C>A | CA406612161 | BICRA | c.1168C>A (p.Gln390Lys) c.442C>A (p.Gln148Lys) c.1012C>A (p.Gln338Lys) c.1030C>A (p.Gln344Lys) | gnomAD v4 |
19 | g.47680338C>G | CA406612162 | BICRA | c.1168C>G (p.Gln390Glu) c.442C>G (p.Gln148Glu) c.1012C>G (p.Gln338Glu) c.1030C>G (p.Gln344Glu) | |
19 | g.47680338C>T | CA406612163 | BICRA | c.1168C>T (p.Gln390Ter) c.442C>T (p.Gln148Ter) c.1012C>T (p.Gln338Ter) c.1030C>T (p.Gln344Ter) | gnomAD v4 |
19 | g.47680339A= | CA2339526565 | BICRA | c.1169A= (p.Gln390=) c.443A= (p.Gln148=) c.1013A= (p.Gln338=) c.1031A= (p.Gln344=) | |
19 | g.47680339A>C | CA406612166 | BICRA | c.1169A>C (p.Gln390Pro) c.443A>C (p.Gln148Pro) c.1013A>C (p.Gln338Pro) c.1031A>C (p.Gln344Pro) | |
19 | g.47680339A>G | CA406612165 | BICRA | c.1169A>G (p.Gln390Arg) c.443A>G (p.Gln148Arg) c.1013A>G (p.Gln338Arg) c.1031A>G (p.Gln344Arg) | dbSNP |
19 | g.47680339A>T | CA406612164 | BICRA | c.1169A>T (p.Gln390Leu) c.443A>T (p.Gln148Leu) c.1013A>T (p.Gln338Leu) c.1031A>T (p.Gln344Leu) | |
19 | g.47680340G>A | CA508257629 | BICRA | c.1170G>A (p.Gln390=) c.444G>A (p.Gln148=) c.1014G>A (p.Gln338=) c.1032G>A (p.Gln344=) | gnomAD v4 |
19 | g.47680340G>C | CA406612167 | BICRA | c.1170G>C (p.Gln390His) c.444G>C (p.Gln148His) c.1014G>C (p.Gln338His) c.1032G>C (p.Gln344His) |