Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154997030_154997031delinsTA | CA2695238484 | F8 | c.330_331delinsTA (p.Met110_Ala111delinsIleThr) c.*116_*117delinsTA (n.*116_*117delinsTA) c.225_226delinsTA (p.Met75_Ala76delinsIleThr) c.312_313delinsTA (p.Met104_Ala105delinsIleThr) | |
X | g.154997031C>A | CA414919992 | F8 | c.330G>T (p.Met110Ile) c.*116G>T (n.*116G>T) c.225G>T (p.Met75Ile) c.312G>T (p.Met104Ile) | |
X | g.154997031C= | CA2466857776 | F8 | c.330G= (p.Met110=) c.*116G= (n.*116G=) c.225G= (p.Met75=) c.312G= (p.Met104=) | |
X | g.154997031C>G | CA414919993 | F8 | c.330G>C (p.Met110Ile) c.*116G>C (n.*116G>C) c.225G>C (p.Met75Ile) c.312G>C (p.Met104Ile) | |
X | g.154997031C>T | CA414919994 | F8 | c.330G>A (p.Met110Ile) c.*116G>A (n.*116G>A) c.225G>A (p.Met75Ile) c.312G>A (p.Met104Ile) | dbSNP |
X | g.154997032A>C | CA414919995 | F8 | c.329T>G (p.Met110Arg) c.*115T>G (n.*115T>G) c.224T>G (p.Met75Arg) c.311T>G (p.Met104Arg) | |
X | g.154997032A>G | CA414919997 | F8 | c.329T>C (p.Met110Thr) c.*115T>C (n.*115T>C) c.224T>C (p.Met75Thr) c.311T>C (p.Met104Thr) | |
X | g.154997032A>T | CA414919996 | F8 | c.329T>A (p.Met110Lys) c.*115T>A (n.*115T>A) c.224T>A (p.Met75Lys) c.311T>A (p.Met104Lys) | |
X | g.154997033T>A | CA414919998 | F8 | c.328A>T (p.Met110Leu) c.*114A>T (n.*114A>T) c.223A>T (p.Met75Leu) c.310A>T (p.Met104Leu) | |
X | g.154997033T>C | CA255057 | F8 | c.328A>G (p.Met110Val) c.*114A>G (n.*114A>G) c.223A>G (p.Met75Val) c.310A>G (p.Met104Val) | ClinVar dbSNP |
X | g.154997033T>G | CA414919999 | F8 | c.328A>C (p.Met110Leu) c.*114A>C (n.*114A>C) c.223A>C (p.Met75Leu) c.310A>C (p.Met104Leu) | |
X | g.154997033T= | CA2466857777 | F8 | c.328A= (p.Met110=) c.*114A= (n.*114A=) c.223A= (p.Met75=) c.310A= (p.Met104=) | |
X | g.154997034G>A | CA519384132 | F8 | c.327C>T (p.Asn109=) c.*113C>T (n.*113C>T) c.222C>T (p.Asn74=) c.309C>T (p.Asn103=) | gnomAD v4 |
X | g.154997034G>C | CA414920000 | F8 | c.327C>G (p.Asn109Lys) c.*113C>G (n.*113C>G) c.222C>G (p.Asn74Lys) c.309C>G (p.Asn103Lys) | |
X | g.154997034G>T | CA414920001 | F8 | c.327C>A (p.Asn109Lys) c.*113C>A (n.*113C>A) c.222C>A (p.Asn74Lys) c.309C>A (p.Asn103Lys) | |
X | g.154997035T>A | CA414920002 | F8 | c.326A>T (p.Asn109Ile) c.*112A>T (n.*112A>T) c.221A>T (p.Asn74Ile) c.308A>T (p.Asn103Ile) | |
X | g.154997035T>C | CA414920003 | F8 | c.326A>G (p.Asn109Ser) c.*112A>G (n.*112A>G) c.221A>G (p.Asn74Ser) c.308A>G (p.Asn103Ser) | dbSNP |
X | g.154997035T>G | CA414920004 | F8 | c.326A>C (p.Asn109Thr) c.*112A>C (n.*112A>C) c.221A>C (p.Asn74Thr) c.308A>C (p.Asn103Thr) | |
X | g.154997035T= | CA2466857778 | F8 | c.326A= (p.Asn109=) c.*112A= (n.*112A=) c.221A= (p.Asn74=) c.308A= (p.Asn103=) | |
X | g.154997036T>A | CA414920005 | F8 | c.325A>T (p.Asn109Tyr) c.*111A>T (n.*111A>T) c.220A>T (p.Asn74Tyr) c.307A>T (p.Asn103Tyr) | |
X | g.154997036T>C | CA414920006 | F8 | c.325A>G (p.Asn109Asp) c.*111A>G (n.*111A>G) c.220A>G (p.Asn74Asp) c.307A>G (p.Asn103Asp) | dbSNP |
X | g.154997036T>G | CA414920007 | F8 | c.325A>C (p.Asn109His) c.*111A>C (n.*111A>C) c.220A>C (p.Asn74His) c.307A>C (p.Asn103His) | |
X | g.154997036T= | CA2466857779 | F8 | c.325A= (p.Asn109=) c.*111A= (n.*111A=) c.220A= (p.Asn74=) c.307A= (p.Asn103=) | |
X | g.154997037C>A | CA414920009 | F8 | c.324G>T (p.Lys108Asn) c.*110G>T (n.*110G>T) c.219G>T (p.Lys73Asn) c.306G>T (p.Lys102Asn) | |
X | g.154997037C>G | CA414920008 | F8 | c.324G>C (p.Lys108Asn) c.*110G>C (n.*110G>C) c.219G>C (p.Lys73Asn) c.306G>C (p.Lys102Asn) | |
X | g.154997037C>T | CA519384133 | F8 | c.324G>A (p.Lys108=) c.*110G>A (n.*110G>A) c.219G>A (p.Lys73=) c.306G>A (p.Lys102=) | |
X | g.154997038T>A | CA414920010 | F8 | c.323A>T (p.Lys108Met) c.*109A>T (n.*109A>T) c.218A>T (p.Lys73Met) c.305A>T (p.Lys102Met) | |
X | g.154997038T>C | CA414920011 | F8 | c.323A>G (p.Lys108Arg) c.*109A>G (n.*109A>G) c.218A>G (p.Lys73Arg) c.305A>G (p.Lys102Arg) | |
X | g.154997038T>G | CA255056 | F8 | c.323A>C (p.Lys108Thr) c.*109A>C (n.*109A>C) c.218A>C (p.Lys73Thr) c.305A>C (p.Lys102Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.154997038T= | CA2466857780 | F8 | c.323A= (p.Lys108=) c.*109A= (n.*109A=) c.218A= (p.Lys73=) c.305A= (p.Lys102=) | |
X | g.154997039T>A | CA414920012 | F8 | c.322A>T (p.Lys108Ter) c.*108A>T (n.*108A>T) c.217A>T (p.Lys73Ter) c.304A>T (p.Lys102Ter) | |
X | g.154997039T>C | CA414920013 | F8 | c.322A>G (p.Lys108Glu) c.*108A>G (n.*108A>G) c.217A>G (p.Lys73Glu) c.304A>G (p.Lys102Glu) | |
X | g.154997039T>G | CA414920014 | F8 | c.322A>C (p.Lys108Gln) c.*108A>C (n.*108A>C) c.217A>C (p.Lys73Gln) c.304A>C (p.Lys102Gln) | dbSNP |
X | g.154997039T= | CA2466857781 | F8 | c.322A= (p.Lys108=) c.*108A= (n.*108A=) c.217A= (p.Lys73=) c.304A= (p.Lys102=) | |
X | g.154997040A>C | CA519384134 | F8 | c.321T>G (p.Leu107=) c.*107T>G (n.*107T>G) c.216T>G (p.Leu72=) c.303T>G (p.Leu101=) | |
X | g.154997040A>G | CA519384136 | F8 | c.321T>C (p.Leu107=) c.*107T>C (n.*107T>C) c.216T>C (p.Leu72=) c.303T>C (p.Leu101=) | |
X | g.154997040A>T | CA519384135 | F8 | c.321T>A (p.Leu107=) c.*107T>A (n.*107T>A) c.216T>A (p.Leu72=) c.303T>A (p.Leu101=) | |
X | g.154997041A>C | CA414920015 | F8 | c.320T>G (p.Leu107Arg) c.*106T>G (n.*106T>G) c.215T>G (p.Leu72Arg) c.302T>G (p.Leu101Arg) | COSMIC COSMIC |
X | g.154997041A>G | CA414920016 | F8 | c.320T>C (p.Leu107Pro) c.*106T>C (n.*106T>C) c.215T>C (p.Leu72Pro) c.302T>C (p.Leu101Pro) | |
X | g.154997041A>T | CA414920017 | F8 | c.320T>A (p.Leu107His) c.*106T>A (n.*106T>A) c.215T>A (p.Leu72His) c.302T>A (p.Leu101His) | |
X | g.154997042G>A | CA414920018 | F8 | c.319C>T (p.Leu107Phe) c.*105C>T (n.*105C>T) c.214C>T (p.Leu72Phe) c.301C>T (p.Leu101Phe) | |
X | g.154997042G>C | CA414920019 | F8 | c.319C>G (p.Leu107Val) c.*105C>G (n.*105C>G) c.214C>G (p.Leu72Val) c.301C>G (p.Leu101Val) | |
X | g.154997042G>T | CA414920020 | F8 | c.319C>A (p.Leu107Ile) c.*105C>A (n.*105C>A) c.214C>A (p.Leu72Ile) c.301C>A (p.Leu101Ile) | |
X | g.154997043T>A | CA519384137 | F8 | c.318A>T (p.Thr106=) c.*104A>T (n.*104A>T) c.213A>T (p.Thr71=) c.300A>T (p.Thr100=) | |
X | g.154997043T>C | CA519384138 | F8 | c.318A>G (p.Thr106=) c.*104A>G (n.*104A>G) c.213A>G (p.Thr71=) c.300A>G (p.Thr100=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154997043T>G | CA519384139 | F8 | c.318A>C (p.Thr106=) c.*104A>C (n.*104A>C) c.213A>C (p.Thr71=) c.300A>C (p.Thr100=) | |
X | g.154997043T= | CA2466857782 | F8 | c.318A= (p.Thr106=) c.*104A= (n.*104A=) c.213A= (p.Thr71=) c.300A= (p.Thr100=) | |
X | g.154997044G>A | CA414920023 | F8 | c.317C>T (p.Thr106Ile) c.*103C>T (n.*103C>T) c.212C>T (p.Thr71Ile) c.299C>T (p.Thr100Ile) | |
X | g.154997044G>C | CA414920022 | F8 | c.317C>G (p.Thr106Arg) c.*103C>G (n.*103C>G) c.212C>G (p.Thr71Arg) c.299C>G (p.Thr100Arg) | |
X | g.154997044G>T | CA414920021 | F8 | c.317C>A (p.Thr106Lys) c.*103C>A (n.*103C>A) c.212C>A (p.Thr71Lys) c.299C>A (p.Thr100Lys) |