Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.19960888C= | CA1769110615 | LPL | c.1140-13C= (n.1140-13C=) c.80-13C= (n.80-13C=) | |
8 | g.19960888C>T | CA4655655 | LPL | c.1140-13C>T (n.1140-13C>T) c.80-13C>T (n.80-13C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.19960889T>A | CA652181376 | LPL | c.1140-12T>A (n.1140-12T>A) c.80-12T>A (n.80-12T>A) | COSMIC |
8 | g.19960889T>C | CA2686361463 | LPL | c.1140-12T>C (n.1140-12T>C) c.80-12T>C (n.80-12T>C) | ClinVar gnomAD v4 |
8 | g.19960893T>G | CA2686361464 | LPL | c.1140-8T>G (n.1140-8T>G) c.80-8T>G (n.80-8T>G) | gnomAD v4 |
8 | g.19960894T>G | CA4655656 | LPL | c.1140-7T>G (n.1140-7T>G) c.80-7T>G (n.80-7T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.19960894T= | CA1769110618 | LPL | c.1140-7T= (n.1140-7T=) c.80-7T= (n.80-7T=) | |
8 | g.19960895G>T | CA2686361465 | LPL | c.1140-6G>T (n.1140-6G>T) c.80-6G>T (n.80-6G>T) | gnomAD v4 |
8 | g.19960899A= | CA1769110623 | LPL | c.1140-2A= (n.1140-2A=) c.80-2A= (n.80-2A=) | |
8 | g.19960899A>C | CA370638516 | LPL | c.1140-2A>C (n.1140-2A>C) c.80-2A>C (n.80-2A>C) | dbSNP gnomAD v4 |
8 | g.19960899A>G | CA370638517 | LPL | c.1140-2A>G (n.1140-2A>G) c.80-2A>G (n.80-2A>G) | |
8 | g.19960899A>T | CA4655657 | LPL | c.1140-2A>T (n.1140-2A>T) c.80-2A>T (n.80-2A>T) | dbSNP ExAC gnomAD v2 |
8 | g.19960900G>A | CA370638518 | LPL | c.1140-1G>A (n.1140-1G>A) c.80-1G>A (n.80-1G>A) | |
8 | g.19960900G>C | CA370638519 | LPL | c.1140-1G>C (n.1140-1G>C) c.80-1G>C (n.80-1G>C) | |
8 | g.19960900G>T | CA370638520 | LPL | c.1140-1G>T (n.1140-1G>T) c.80-1G>T (n.80-1G>T) | |
8 | g.19960901G>A | CA459719130 | LPL | c.1140G>A (p.Leu380=) c.80G>A (p.Gly27Asp) | gnomAD v4 |
8 | g.19960901G>C | CA459719131 | LPL | c.1140G>C (p.Leu380=) c.80G>C (p.Gly27Ala) | gnomAD v4 |
8 | g.19960901G>T | CA459719132 | LPL | c.1140G>T (p.Leu380=) c.80G>T (p.Gly27Val) | |
8 | g.19960902C>A | CA370638521 | LPL | c.1141C>A (p.Pro381Thr) c.81C>A (p.Gly27=) | gnomAD v4 |
8 | g.19960902C= | CA1769110630 | LPL | c.1141C= (p.Pro381=) c.81C= (p.Gly27=) | |
8 | g.19960902C>G | CA370638522 | LPL | c.1141C>G (p.Pro381Ala) c.81C>G (p.Gly27=) | |
8 | g.19960902C>T | CA370638523 | LPL | c.1141C>T (p.Pro381Ser) c.81C>T (p.Gly27=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.19960903C>A | CA370638524 | LPL | c.1142C>A (p.Pro381His) c.82C>A (p.Leu28Met) | |
8 | g.19960903C>G | CA370638525 | LPL | c.1142C>G (p.Pro381Arg) c.82C>G (p.Leu28Val) | |
8 | g.19960903C>T | CA370638526 | LPL | c.1142C>T (p.Pro381Leu) c.82C>T (p.Leu28=) | |
8 | g.19960904T>A | CA459719133 | LPL | c.1143T>A (p.Pro381=) c.83T>A (p.Leu28Gln) | |
8 | g.19960904T>C | CA459719134 | LPL | c.1143T>C (p.Pro381=) c.83T>C (p.Leu28Pro) | gnomAD v4 |
8 | g.19960904T>G | CA459719135 | LPL | c.1143T>G (p.Pro381=) c.83T>G (p.Leu28Arg) | |
8 | g.19960905G>A | CA370638527 | LPL | c.1144G>A (p.Glu382Lys) c.84G>A (p.Leu28=) | gnomAD v4 |
8 | g.19960905G>C | CA370638529 | LPL | c.1144G>C (p.Glu382Gln) c.84G>C (p.Leu28=) | |
8 | g.19960905G>T | CA370638528 | LPL | c.1144G>T (p.Glu382Ter) c.84G>T (p.Leu28=) | |
8 | g.19960906A>C | CA370638530 | LPL | c.1145A>C (p.Glu382Ala) c.85A>C (p.Lys29Gln) | |
8 | g.19960906A>G | CA370638532 | LPL | c.1145A>G (p.Glu382Gly) c.85A>G (p.Lys29Glu) | |
8 | g.19960906A>T | CA370638531 | LPL | c.1145A>T (p.Glu382Val) c.85A>T (p.Lys29Ter) | |
8 | g.19960907A= | CA1769110635 | LPL | c.1146A= (p.Glu382=) c.86A= (p.Lys29=) | |
8 | g.19960907A>C | CA370638533 | LPL | c.1146A>C (p.Glu382Asp) c.86A>C (p.Lys29Thr) | |
8 | g.19960907A>G | CA459719136 | LPL | c.1146A>G (p.Glu382=) c.86A>G (p.Lys29Arg) | ClinVar dbSNP gnomAD v4 |
8 | g.19960907A>T | CA370638534 | LPL | c.1146A>T (p.Glu382Asp) c.86A>T (p.Lys29Met) | |
8 | g.19960908G>A | CA4655658 | LPL | c.1147G>A (p.Val383Ile) c.87G>A (p.Lys29=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.19960908G>C | CA370638536 | LPL | c.1147G>C (p.Val383Leu) c.87G>C (p.Lys29Asn) | |
8 | g.19960908G= | CA1769110641 | LPL | c.1147G= (p.Val383=) c.87G= (p.Lys29=) | |
8 | g.19960908G>T | CA370638535 | LPL | c.1147G>T (p.Val383Phe) c.87G>T (p.Lys29Asn) | |
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=) |