Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.19960909T>A | CA370638537 | LPL | c.1148T>A (p.Val383Asp) c.88T>A (p.Phe30Ile) | |
8 | g.19960909T>C | CA370638539 | LPL | c.1148T>C (p.Val383Ala) c.88T>C (p.Phe30Leu) | |
8 | g.19960909T>G | CA370638538 | LPL | c.1148T>G (p.Val383Gly) c.88T>G (p.Phe30Val) | |
8 | g.19960910T>A | CA459719139 | LPL | c.1149T>A (p.Val383=) c.89T>A (p.Phe30Tyr) | |
8 | g.19960910T>C | CA459719137 | LPL | c.1149T>C (p.Val383=) c.89T>C (p.Phe30Ser) | |
8 | g.19960910T>G | CA459719138 | LPL | c.1149T>G (p.Val383=) c.89T>G (p.Phe30Cys) | |
8 | g.19960911T>A | CA370638540 | LPL | c.1150T>A (p.Ser384Thr) c.90T>A (p.Phe30Leu) | |
8 | g.19960911T>C | CA370638541 | LPL | c.1150T>C (p.Ser384Pro) c.90T>C (p.Phe30=) | |
8 | g.19960911T>G | CA370638542 | LPL | c.1150T>G (p.Ser384Ala) c.90T>G (p.Phe30Leu) | |
8 | g.19960912C>A | CA370638543 | LPL | c.1151C>A (p.Ser384Tyr) c.91C>A (p.Pro31Thr) | |
8 | g.19960912C>G | CA370638544 | LPL | c.1151C>G (p.Ser384Cys) c.91C>G (p.Pro31Ala) | gnomAD v4 |
8 | g.19960912C>T | CA370638545 | LPL | c.1151C>T (p.Ser384Phe) c.91C>T (p.Pro31Ser) | gnomAD v4 COSMIC |
8 | g.19960913C>A | CA459719140 | LPL | c.1152C>A (p.Ser384=) c.92C>A (p.Pro31Gln) | |
8 | g.19960913C>G | CA459719142 | LPL | c.1152C>G (p.Ser384=) c.92C>G (p.Pro31Arg) | |
8 | g.19960913C>T | CA459719141 | LPL | c.1152C>T (p.Ser384=) c.92C>T (p.Pro31Leu) | |
8 | g.19960914A>C | CA370638546 | LPL | c.1153A>C (p.Thr385Pro) c.93A>C (p.Pro31=) | |
8 | g.19960914A>G | CA370638547 | LPL | c.1153A>G (p.Thr385Ala) c.93A>G (p.Pro31=) | gnomAD v4 |
8 | g.19960914A>T | CA370638548 | LPL | c.1153A>T (p.Thr385Ser) c.93A>T (p.Pro31=) | |
8 | g.19960915C>A | CA370638549 | LPL | c.1154C>A (p.Thr385Lys) c.94C>A (p.Gln32Lys) | gnomAD v4 |
8 | g.19960915C>G | CA370638550 | LPL | c.1154C>G (p.Thr385Arg) c.94C>G (p.Gln32Glu) | |
8 | g.19960915C>T | CA370638551 | LPL | c.1154C>T (p.Thr385Ile) c.94C>T (p.Gln32Ter) | gnomAD v4 |
8 | g.19960916A>C | CA459719143 | LPL | c.1155A>C (p.Thr385=) c.95A>C (p.Gln32Pro) | |
8 | g.19960916A>G | CA459719144 | LPL | c.1155A>G (p.Thr385=) c.95A>G (p.Gln32Arg) | |
8 | g.19960916A>T | CA459719145 | LPL | c.1155A>T (p.Thr385=) c.95A>T (p.Gln32Leu) | ClinVar dbSNP gnomAD v4 |
8 | g.19960917A= | CA1769110644 | LPL | c.1156A= (p.Asn386=) c.96A= (p.Gln32=) | |
8 | g.19960917A>C | CA370638552 | LPL | c.1156A>C (p.Asn386His) c.96A>C (p.Gln32His) | |
8 | g.19960917A>G | CA173617974 | LPL | c.1156A>G (p.Asn386Asp) c.96A>G (p.Gln32=) | dbSNP gnomAD v4 |
8 | g.19960917A>T | CA370638553 | LPL | c.1156A>T (p.Asn386Tyr) c.96A>T (p.Gln32His) | |
8 | g.19960918A>C | CA370638554 | LPL | c.1157A>C (p.Asn386Thr) c.97A>C (p.Ile33Leu) | |
8 | g.19960918A>G | CA370638555 | LPL | c.1157A>G (p.Asn386Ser) c.97A>G (p.Ile33Val) | |
8 | g.19960918A>T | CA370638556 | LPL | c.1157A>T (p.Asn386Ile) c.97A>T (p.Ile33Leu) | |
8 | g.19960919T>A | CA370638557 | LPL | c.1158T>A (p.Asn386Lys) c.98T>A (p.Ile33Lys) | |
8 | g.19960919T>C | CA459719146 | LPL | c.1158T>C (p.Asn386=) c.98T>C (p.Ile33Thr) | |
8 | g.19960919T>G | CA173617975 | LPL | c.1158T>G (p.Asn386Lys) c.98T>G (p.Ile33Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.19960919T= | CA1769110647 | LPL | c.1158T= (p.Asn386=) c.98T= (p.Ile33=) | |
8 | g.19960919dup | CA2739279633 | LPL | c.1158dup (p.Lys387Ter) c.98dup (p.Arg34LysfsTer?) | ClinVar |
8 | g.19960920A>C | CA370638558 | LPL | c.1159A>C (p.Lys387Gln) c.99A>C (p.Ile33=) | |
8 | g.19960920A>G | CA370638559 | LPL | c.1159A>G (p.Lys387Glu) c.99A>G (p.Ile33Met) | |
8 | g.19960920A>T | CA370638560 | LPL | c.1159A>T (p.Lys387Ter) c.99A>T (p.Ile33=) | |
8 | g.19960921A= | CA1769110654 | LPL | c.1160A= (p.Lys387=) c.100A= (p.Arg34=) | |
8 | g.19960921A>C | CA370638563 | LPL | c.1160A>C (p.Lys387Thr) c.100A>C (p.Arg34=) | |
8 | g.19960921A>G | CA370638562 | LPL | c.1160A>G (p.Lys387Arg) c.100A>G (p.Arg34Gly) | |
8 | g.19960921A>T | CA370638561 | LPL | c.1160A>T (p.Lys387Met) c.100A>T (p.Arg34Ter) | |
8 | g.19960921_19960922insT | CA1139660384 | LPL | c.1160_1161insT (p.Lys387AsnfsTer26) c.100_101insT (p.Arg34MetfsTer?) | ClinVar dbSNP |
8 | g.19960922G>A | CA459719147 | LPL | c.1161G>A (p.Lys387=) c.101G>A (p.Arg34Lys) | ClinVar gnomAD v4 |
8 | g.19960922G>C | CA370638564 | LPL | c.1161G>C (p.Lys387Asn) c.101G>C (p.Arg34Thr) | |
8 | g.19960922G>T | CA370638565 | LPL | c.1161G>T (p.Lys387Asn) c.101G>T (p.Arg34Ile) | |
8 | g.19960923A>C | CA370638566 | LPL | c.1162A>C (p.Thr388Pro) c.102A>C (p.Arg34Ser) | |
8 | g.19960923A>G | CA370638567 | LPL | c.1162A>G (p.Thr388Ala) c.102A>G (p.Arg34=) | |
8 | g.19960923A>T | CA370638568 | LPL | c.1162A>T (p.Thr388Ser) c.102A>T (p.Arg34Ser) | gnomAD v4 |