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 |
|---|---|---|---|---|---|
| X | g.154997027A>C | CA414919983 | F8 | c.334T>G (p.Ser112Ala) c.*120T>G (n.*120T>G) c.229T>G (p.Ser77Ala) c.316T>G (p.Ser106Ala) | |
| X | g.154997027A>G | CA414919984 | F8 | c.334T>C (p.Ser112Pro) c.*120T>C (n.*120T>C) c.229T>C (p.Ser77Pro) c.316T>C (p.Ser106Pro) | |
| X | g.154997027A>T | CA414919985 | F8 | c.334T>A (p.Ser112Thr) c.*120T>A (n.*120T>A) c.229T>A (p.Ser77Thr) c.316T>A (p.Ser106Thr) | |
| X | g.154997028A>C | CA519384129 | F8 | c.333T>G (p.Ala111=) c.*119T>G (n.*119T>G) c.228T>G (p.Ala76=) c.315T>G (p.Ala105=) | |
| X | g.154997028A>G | CA519384130 | F8 | c.333T>C (p.Ala111=) c.*119T>C (n.*119T>C) c.228T>C (p.Ala76=) c.315T>C (p.Ala105=) | gnomAD v4 |
| X | g.154997028A>T | CA519384131 | F8 | c.333T>A (p.Ala111=) c.*119T>A (n.*119T>A) c.228T>A (p.Ala76=) c.315T>A (p.Ala105=) | |
| X | g.154997029G>A | CA414919986 | F8 | c.332C>T (p.Ala111Val) c.*118C>T (n.*118C>T) c.227C>T (p.Ala76Val) c.314C>T (p.Ala105Val) | COSMIC COSMIC |
| X | g.154997029G>C | CA414919987 | F8 | c.332C>G (p.Ala111Gly) c.*118C>G (n.*118C>G) c.227C>G (p.Ala76Gly) c.314C>G (p.Ala105Gly) | dbSNP |
| X | g.154997029G= | CA2466857774 | F8 | c.332C= (p.Ala111=) c.*118C= (n.*118C=) c.227C= (p.Ala76=) c.314C= (p.Ala105=) | |
| X | g.154997029G>T | CA414919988 | F8 | c.332C>A (p.Ala111Asp) c.*118C>A (n.*118C>A) c.227C>A (p.Ala76Asp) c.314C>A (p.Ala105Asp) | |
| X | g.154997030C>A | CA414919989 | F8 | c.331G>T (p.Ala111Ser) c.*117G>T (n.*117G>T) c.226G>T (p.Ala76Ser) c.313G>T (p.Ala105Ser) | |
| X | g.154997030C= | CA2466857775 | F8 | c.331G= (p.Ala111=) c.*117G= (n.*117G=) c.226G= (p.Ala76=) c.313G= (p.Ala105=) | |
| X | g.154997030C>G | CA414919990 | F8 | c.331G>C (p.Ala111Pro) c.*117G>C (n.*117G>C) c.226G>C (p.Ala76Pro) c.313G>C (p.Ala105Pro) | dbSNP |
| X | g.154997030C>T | CA414919991 | F8 | c.331G>A (p.Ala111Thr) c.*117G>A (n.*117G>A) c.226G>A (p.Ala76Thr) c.313G>A (p.Ala105Thr) | dbSNP |
| 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) | |
| X | g.154997045T>A | CA414920024 | F8 | c.316A>T (p.Thr106Ser) c.*102A>T (n.*102A>T) c.211A>T (p.Thr71Ser) c.298A>T (p.Thr100Ser) | |
| X | g.154997045T>C | CA414920026 | F8 | c.316A>G (p.Thr106Ala) c.*102A>G (n.*102A>G) c.211A>G (p.Thr71Ala) c.298A>G (p.Thr100Ala) | |
| X | g.154997045T>G | CA414920025 | F8 | c.316A>C (p.Thr106Pro) c.*102A>C (n.*102A>C) c.211A>C (p.Thr71Pro) c.298A>C (p.Thr100Pro) | |
| X | g.154997046A= | CA2466857783 | F8 | c.315T= (p.Ile105=) c.*101T= (n.*101T=) c.210T= (p.Ile70=) c.297T= (p.Ile99=) | |
| X | g.154997046A>C | CA414920027 | F8 | c.315T>G (p.Ile105Met) c.*101T>G (n.*101T>G) c.210T>G (p.Ile70Met) c.297T>G (p.Ile99Met) | |
| X | g.154997046A>G | CA519384140 | F8 | c.315T>C (p.Ile105=) c.*101T>C (n.*101T>C) c.210T>C (p.Ile70=) c.297T>C (p.Ile99=) | |
| X | g.154997046A>T | CA519384141 | F8 | c.315T>A (p.Ile105=) c.*101T>A (n.*101T>A) c.210T>A (p.Ile70=) c.297T>A (p.Ile99=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154997047A>C | CA414920028 | F8 | c.314T>G (p.Ile105Ser) c.*100T>G (n.*100T>G) c.209T>G (p.Ile70Ser) c.296T>G (p.Ile99Ser) | |
| X | g.154997047A>G | CA414920029 | F8 | c.314T>C (p.Ile105Thr) c.*100T>C (n.*100T>C) c.209T>C (p.Ile70Thr) c.296T>C (p.Ile99Thr) | |
| X | g.154997047A>T | CA414920030 | F8 | c.314T>A (p.Ile105Asn) c.*100T>A (n.*100T>A) c.209T>A (p.Ile70Asn) c.296T>A (p.Ile99Asn) | |
| X | g.154997048T>A | CA414920031 | F8 | c.313A>T (p.Ile105Phe) c.*99A>T (n.*99A>T) c.208A>T (p.Ile70Phe) c.295A>T (p.Ile99Phe) | |
| X | g.154997048T>C | CA414920032 | F8 | c.313A>G (p.Ile105Val) c.*99A>G (n.*99A>G) c.208A>G (p.Ile70Val) c.295A>G (p.Ile99Val) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154997048T>G | CA414920033 | F8 | c.313A>C (p.Ile105Leu) c.*99A>C (n.*99A>C) c.208A>C (p.Ile70Leu) c.295A>C (p.Ile99Leu) | |
| X | g.154997048T= | CA2466857784 | F8 | c.313A= (p.Ile105=) c.*99A= (n.*99A=) c.208A= (p.Ile70=) c.295A= (p.Ile99=) | |
| X | g.154997049G>A | CA519384142 | F8 | c.312C>T (p.Val104=) c.*98C>T (n.*98C>T) c.207C>T (p.Val69=) c.294C>T (p.Val98=) | |
| X | g.154997049G>C | CA519384143 | F8 | c.312C>G (p.Val104=) c.*98C>G (n.*98C>G) c.207C>G (p.Val69=) c.294C>G (p.Val98=) | |
| X | g.154997049G= | CA2466857785 | F8 | c.312C= (p.Val104=) c.*98C= (n.*98C=) c.207C= (p.Val69=) c.294C= (p.Val98=) | |
| X | g.154997049G>T | CA519384144 | F8 | c.312C>A (p.Val104=) c.*98C>A (n.*98C>A) c.207C>A (p.Val69=) c.294C>A (p.Val98=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154997050A= | CA2466857786 | F8 | c.311T= (p.Val104=) c.*97T= (n.*97T=) c.206T= (p.Val69=) c.293T= (p.Val98=) | |
| X | g.154997050A>C | CA414920034 | F8 | c.311T>G (p.Val104Gly) c.*97T>G (n.*97T>G) c.206T>G (p.Val69Gly) c.293T>G (p.Val98Gly) | dbSNP |
| X | g.154997050A>G | CA414920035 | F8 | c.311T>C (p.Val104Ala) c.*97T>C (n.*97T>C) c.206T>C (p.Val69Ala) c.293T>C (p.Val98Ala) | |
| X | g.154997050A>T | CA255055 | F8 | c.311T>A (p.Val104Asp) c.*97T>A (n.*97T>A) c.206T>A (p.Val69Asp) c.293T>A (p.Val98Asp) | ClinVar dbSNP |
| X | g.154997051C>A | CA414920036 | F8 | c.310G>T (p.Val104Phe) c.*96G>T (n.*96G>T) c.205G>T (p.Val69Phe) c.292G>T (p.Val98Phe) | |
| X | g.154997051C= | CA2466857787 | F8 | c.310G= (p.Val104=) c.*96G= (n.*96G=) c.205G= (p.Val69=) c.292G= (p.Val98=) | |
| X | g.154997051C>G | CA414920037 | F8 | c.310G>C (p.Val104Leu) c.*96G>C (n.*96G>C) c.205G>C (p.Val69Leu) c.292G>C (p.Val98Leu) | |
| X | g.154997051C>T | CA414920038 | F8 | c.310G>A (p.Val104Ile) c.*96G>A (n.*96G>A) c.205G>A (p.Val69Ile) c.292G>A (p.Val98Ile) | dbSNP gnomAD v4 |
| X | g.154997052del | CA2695238485 | F8 | c.310del (p.Val104SerfsTer?) c.*96del (n.*96del) c.205del (p.Val69SerfsTer?) c.292del (p.Val98SerfsTer?) | |
| X | g.154997052C>A | CA519384145 | F8 | c.309G>T (p.Val103=) c.*95G>T (n.*95G>T) c.204G>T (p.Val68=) c.291G>T (p.Val97=) | |
| X | g.154997052C>G | CA519384146 | F8 | c.309G>C (p.Val103=) c.*95G>C (n.*95G>C) c.204G>C (p.Val68=) c.291G>C (p.Val97=) | |
| X | g.154997052C>T | CA519384147 | F8 | c.309G>A (p.Val103=) c.*95G>A (n.*95G>A) c.204G>A (p.Val68=) c.291G>A (p.Val97=) | |
| X | g.154997053A= | CA2466857788 | F8 | c.308T= (p.Val103=) c.*94T= (n.*94T=) c.203T= (p.Val68=) c.290T= (p.Val97=) | |
| X | g.154997053A>C | CA414920041 | F8 | c.308T>G (p.Val103Gly) c.*94T>G (n.*94T>G) c.203T>G (p.Val68Gly) c.290T>G (p.Val97Gly) | |
| X | g.154997053A>G | CA414920039 | F8 | c.308T>C (p.Val103Ala) c.*94T>C (n.*94T>C) c.203T>C (p.Val68Ala) c.290T>C (p.Val97Ala) | ClinVar dbSNP |
| X | g.154997053A>T | CA414920040 | F8 | c.308T>A (p.Val103Glu) c.*94T>A (n.*94T>A) c.203T>A (p.Val68Glu) c.290T>A (p.Val97Glu) | |
| X | g.154997054C>A | CA414920042 | F8 | c.307G>T (p.Val103Leu) c.*93G>T (n.*93G>T) c.202G>T (p.Val68Leu) c.289G>T (p.Val97Leu) | |
| X | g.154997054C= | CA2466857789 | F8 | c.307G= (p.Val103=) c.*93G= (n.*93G=) c.202G= (p.Val68=) c.289G= (p.Val97=) | |
| X | g.154997054C>G | CA414920043 | F8 | c.307G>C (p.Val103Leu) c.*93G>C (n.*93G>C) c.202G>C (p.Val68Leu) c.289G>C (p.Val97Leu) | |
| X | g.154997054C>T | CA414920044 | F8 | c.307G>A (p.Val103Met) c.*93G>A (n.*93G>A) c.202G>A (p.Val68Met) c.289G>A (p.Val97Met) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154997055T>A | CA10568601 | F8 | c.306A>T (p.Thr102=) c.*92A>T (n.*92A>T) c.201A>T (p.Thr67=) c.288A>T (p.Thr96=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154997055T>C | CA519384148 | F8 | c.306A>G (p.Thr102=) c.*92A>G (n.*92A>G) c.201A>G (p.Thr67=) c.288A>G (p.Thr96=) | gnomAD v4 |
| X | g.154997055T>G | CA519384149 | F8 | c.306A>C (p.Thr102=) c.*92A>C (n.*92A>C) c.201A>C (p.Thr67=) c.288A>C (p.Thr96=) | |
| X | g.154997055T= | CA2466857790 | F8 | c.306A= (p.Thr102=) c.*92A= (n.*92A=) c.201A= (p.Thr67=) c.288A= (p.Thr96=) | |
| X | g.154997055_154997056insTAAGAACATAAATCTCAG | CA2695238486 | F8 | c.305_306insCTGAGATTTATGTTCTTA (p.Thr103Ter) c.*91_*92insCTGAGATTTATGTTCTTA (n.*91_*92insCTGAGATTTATGTTCTTA) c.200_201insCTGAGATTTATGTTCTTA (p.Thr68Ter) c.287_288insCTGAGATTTATGTTCTTA (p.Thr97Ter) | |
| X | g.154997056G>A | CA414920045 | F8 | c.305C>T (p.Thr102Ile) c.*91C>T (n.*91C>T) c.200C>T (p.Thr67Ile) c.287C>T (p.Thr96Ile) | |
| X | g.154997056G>C | CA414920046 | F8 | c.305C>G (p.Thr102Arg) c.*91C>G (n.*91C>G) c.200C>G (p.Thr67Arg) c.287C>G (p.Thr96Arg) | |
| X | g.154997056G>T | CA414920047 | F8 | c.305C>A (p.Thr102Lys) c.*91C>A (n.*91C>A) c.200C>A (p.Thr67Lys) c.287C>A (p.Thr96Lys) | |
| X | g.154997057T>A | CA414920048 | F8 | c.304A>T (p.Thr102Ser) c.*90A>T (n.*90A>T) c.199A>T (p.Thr67Ser) c.286A>T (p.Thr96Ser) | |
| X | g.154997057T>C | CA414920049 | F8 | c.304A>G (p.Thr102Ala) c.*90A>G (n.*90A>G) c.199A>G (p.Thr67Ala) c.286A>G (p.Thr96Ala) | |
| X | g.154997057T>G | CA414920050 | F8 | c.304A>C (p.Thr102Pro) c.*90A>C (n.*90A>C) c.199A>C (p.Thr67Pro) c.286A>C (p.Thr96Pro) | |
| X | g.154997057dup | CA2695238487 | F8 | c.304dup (p.Thr102AsnfsTer7) c.*90dup (n.*90dup) c.199dup (p.Thr67AsnfsTer7) c.286dup (p.Thr96AsnfsTer7) | |
| X | g.154997058A>C | CA414920051 | F8 | c.303T>G (p.Asp101Glu) c.*89T>G (n.*89T>G) c.198T>G (p.Asp66Glu) c.285T>G (p.Asp95Glu) | |
| X | g.154997058A>G | CA519384150 | F8 | c.303T>C (p.Asp101=) c.*89T>C (n.*89T>C) c.198T>C (p.Asp66=) c.285T>C (p.Asp95=) | |
| X | g.154997058A>T | CA414920052 | F8 | c.303T>A (p.Asp101Glu) c.*89T>A (n.*89T>A) c.198T>A (p.Asp66Glu) c.285T>A (p.Asp95Glu) | |
| X | g.154997059T>A | CA414920053 | F8 | c.302A>T (p.Asp101Val) c.*88A>T (n.*88A>T) c.197A>T (p.Asp66Val) c.284A>T (p.Asp95Val) | |
| X | g.154997059T>C | CA414920055 | F8 | c.302A>G (p.Asp101Gly) c.*88A>G (n.*88A>G) c.197A>G (p.Asp66Gly) c.284A>G (p.Asp95Gly) | ClinVar dbSNP |
| X | g.154997059T>G | CA414920054 | F8 | c.302A>C (p.Asp101Ala) c.*88A>C (n.*88A>C) c.197A>C (p.Asp66Ala) c.284A>C (p.Asp95Ala) | COSMIC COSMIC |
| X | g.154997059T= | CA2466857791 | F8 | c.302A= (p.Asp101=) c.*88A= (n.*88A=) c.197A= (p.Asp66=) c.284A= (p.Asp95=) | |
| X | g.154997060C>A | CA414920056 | F8 | c.301G>T (p.Asp101Tyr) c.*87G>T (n.*87G>T) c.196G>T (p.Asp66Tyr) c.283G>T (p.Asp95Tyr) | |
| X | g.154997060C>G | CA414920057 | F8 | c.301G>C (p.Asp101His) c.*87G>C (n.*87G>C) c.196G>C (p.Asp66His) c.283G>C (p.Asp95His) | |
| X | g.154997060C>T | CA414920058 | F8 | c.301G>A (p.Asp101Asn) c.*87G>A (n.*87G>A) c.196G>A (p.Asp66Asn) c.283G>A (p.Asp95Asn) | |
| X | g.154997061A>C | CA414920059 | F8 | c.300T>G (p.Tyr100Ter) c.*86T>G (n.*86T>G) c.195T>G (p.Tyr65Ter) c.282T>G (p.Tyr94Ter) | |
| X | g.154997061A>G | CA519384151 | F8 | c.300T>C (p.Tyr100=) c.*86T>C (n.*86T>C) c.195T>C (p.Tyr65=) c.282T>C (p.Tyr94=) | gnomAD v4 |
| X | g.154997061A>T | CA414920060 | F8 | c.300T>A (p.Tyr100Ter) c.*86T>A (n.*86T>A) c.195T>A (p.Tyr65Ter) c.282T>A (p.Tyr94Ter) | |
| X | g.154997062del | CA2695238488 | F8 | c.299del (p.Tyr100LeufsTer?) c.*85del (n.*85del) c.194del (p.Tyr65LeufsTer?) c.281del (p.Tyr94LeufsTer?) | |
| X | g.154997062T>A | CA414920061 | F8 | c.299A>T (p.Tyr100Phe) c.*85A>T (n.*85A>T) c.194A>T (p.Tyr65Phe) c.281A>T (p.Tyr94Phe) | |
| X | g.154997062T>C | CA414920062 | F8 | c.299A>G (p.Tyr100Cys) c.*85A>G (n.*85A>G) c.194A>G (p.Tyr65Cys) c.281A>G (p.Tyr94Cys) | |
| X | g.154997062T>G | CA414920063 | F8 | c.299A>C (p.Tyr100Ser) c.*85A>C (n.*85A>C) c.194A>C (p.Tyr65Ser) c.281A>C (p.Tyr94Ser) | |
| X | g.154997063A>C | CA414920064 | F8 | c.298T>G (p.Tyr100Asp) c.*84T>G (n.*84T>G) c.193T>G (p.Tyr65Asp) c.280T>G (p.Tyr94Asp) | |
| X | g.154997063A>G | CA414920065 | F8 | c.298T>C (p.Tyr100His) c.*84T>C (n.*84T>C) c.193T>C (p.Tyr65His) c.280T>C (p.Tyr94His) | |
| X | g.154997063A>T | CA414920066 | F8 | c.298T>A (p.Tyr100Asn) c.*84T>A (n.*84T>A) c.193T>A (p.Tyr65Asn) c.280T>A (p.Tyr94Asn) | |
| X | g.154997065del | CA2536973539 | F8 | c.298del (p.Tyr100MetfsTer?) c.*84del (n.*84del) c.193del (p.Tyr65MetfsTer?) c.280del (p.Tyr94MetfsTer?) | |
| X | g.154997064A>C | CA519384152 | F8 | c.297T>G (p.Val99=) c.*83T>G (n.*83T>G) c.192T>G (p.Val64=) c.279T>G (p.Val93=) | |
| X | g.154997064A>G | CA519384153 | F8 | c.297T>C (p.Val99=) c.*83T>C (n.*83T>C) c.192T>C (p.Val64=) c.279T>C (p.Val93=) | |
| X | g.154997064A>T | CA519384154 | F8 | c.297T>A (p.Val99=) c.*83T>A (n.*83T>A) c.192T>A (p.Val64=) c.279T>A (p.Val93=) | |
| X | g.154997065A= | CA2466857792 | F8 | c.296T= (p.Val99=) c.*82T= (n.*82T=) c.191T= (p.Val64=) c.278T= (p.Val93=) | |
| X | g.154997065A>C | CA414920068 | F8 | c.296T>G (p.Val99Gly) c.*82T>G (n.*82T>G) c.191T>G (p.Val64Gly) c.278T>G (p.Val93Gly) | |
| X | g.154997065A>G | CA414920067 | F8 | c.296T>C (p.Val99Ala) c.*82T>C (n.*82T>C) c.191T>C (p.Val64Ala) c.278T>C (p.Val93Ala) | ClinVar dbSNP |
| X | g.154997065A>T | CA255054 | F8 | c.296T>A (p.Val99Asp) c.*82T>A (n.*82T>A) c.191T>A (p.Val64Asp) c.278T>A (p.Val93Asp) | ClinVar dbSNP |
| X | g.154997066C>A | CA414920069 | F8 | c.295G>T (p.Val99Phe) c.*81G>T (n.*81G>T) c.190G>T (p.Val64Phe) c.277G>T (p.Val93Phe) | |
| X | g.154997066C>G | CA414920070 | F8 | c.295G>C (p.Val99Leu) c.*81G>C (n.*81G>C) c.190G>C (p.Val64Leu) c.277G>C (p.Val93Leu) | |
| X | g.154997066C>T | CA414920071 | F8 | c.295G>A (p.Val99Ile) c.*81G>A (n.*81G>A) c.190G>A (p.Val64Ile) c.277G>A (p.Val93Ile) | |
| X | g.154997069_154997074del | CA2695238489 | F8 | c.290_295del (p.Ala97_Glu98del) c.*76_*81del (n.*76_*81del) c.185_190del (p.Ala62_Glu63del) c.272_277del (p.Ala91_Glu92del) | |
| X | g.154997067C>A | CA414920072 | F8 | c.294G>T (p.Glu98Asp) c.*80G>T (n.*80G>T) c.189G>T (p.Glu63Asp) c.276G>T (p.Glu92Asp) | |
| X | g.154997067C= | CA2466857793 | F8 | c.294G= (p.Glu98=) c.*80G= (n.*80G=) c.189G= (p.Glu63=) c.276G= (p.Glu92=) | |
| X | g.154997067C>G | CA414920073 | F8 | c.294G>C (p.Glu98Asp) c.*80G>C (n.*80G>C) c.189G>C (p.Glu63Asp) c.276G>C (p.Glu92Asp) | |
| X | g.154997067C>T | CA519384155 | F8 | c.294G>A (p.Glu98=) c.*80G>A (n.*80G>A) c.189G>A (p.Glu63=) c.276G>A (p.Glu92=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154997068T>A | CA414920074 | F8 | c.293A>T (p.Glu98Val) c.*79A>T (n.*79A>T) c.188A>T (p.Glu63Val) c.275A>T (p.Glu92Val) | |
| X | g.154997068T>C | CA414920075 | F8 | c.293A>G (p.Glu98Gly) c.*79A>G (n.*79A>G) c.188A>G (p.Glu63Gly) c.275A>G (p.Glu92Gly) | |
| X | g.154997068T>G | CA414920076 | F8 | c.293A>C (p.Glu98Ala) c.*79A>C (n.*79A>C) c.188A>C (p.Glu63Ala) c.275A>C (p.Glu92Ala) | |
| X | g.154997069C>A | CA414920077 | F8 | c.292G>T (p.Glu98Ter) c.*78G>T (n.*78G>T) c.187G>T (p.Glu63Ter) c.274G>T (p.Glu92Ter) | |
| X | g.154997069C= | CA2466857794 | F8 | c.292G= (p.Glu98=) c.*78G= (n.*78G=) c.187G= (p.Glu63=) c.274G= (p.Glu92=) | |
| X | g.154997069C>G | CA414920078 | F8 | c.292G>C (p.Glu98Gln) c.*78G>C (n.*78G>C) c.187G>C (p.Glu63Gln) c.274G>C (p.Glu92Gln) | |
| X | g.154997069C>T | CA414920079 | F8 | c.292G>A (p.Glu98Lys) c.*78G>A (n.*78G>A) c.187G>A (p.Glu63Lys) c.274G>A (p.Glu92Lys) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.154997070A>C | CA519384156 | F8 | c.291T>G (p.Ala97=) c.*77T>G (n.*77T>G) c.186T>G (p.Ala62=) c.273T>G (p.Ala91=) | gnomAD v4 |
| X | g.154997070A>G | CA519384158 | F8 | c.291T>C (p.Ala97=) c.*77T>C (n.*77T>C) c.186T>C (p.Ala62=) c.273T>C (p.Ala91=) | |
| X | g.154997070A>T | CA519384157 | F8 | c.291T>A (p.Ala97=) c.*77T>A (n.*77T>A) c.186T>A (p.Ala62=) c.273T>A (p.Ala91=) | |
| X | g.154997071G>A | CA414920080 | F8 | c.290C>T (p.Ala97Val) c.*76C>T (n.*76C>T) c.185C>T (p.Ala62Val) c.272C>T (p.Ala91Val) | |
| X | g.154997071G>C | CA414920082 | F8 | c.290C>G (p.Ala97Gly) c.*76C>G (n.*76C>G) c.185C>G (p.Ala62Gly) c.272C>G (p.Ala91Gly) | |
| X | g.154997071G>T | CA414920081 | F8 | c.290C>A (p.Ala97Asp) c.*76C>A (n.*76C>A) c.185C>A (p.Ala62Asp) c.272C>A (p.Ala91Asp) | |
| X | g.154997072C>A | CA414920083 | F8 | c.289G>T (p.Ala97Ser) c.*75G>T (n.*75G>T) c.184G>T (p.Ala62Ser) c.271G>T (p.Ala91Ser) | |
| X | g.154997072C= | CA2466857795 | F8 | c.289G= (p.Ala97=) c.*75G= (n.*75G=) c.184G= (p.Ala62=) c.271G= (p.Ala91=) | |
| X | g.154997072C>G | CA414920085 | F8 | c.289G>C (p.Ala97Pro) c.*75G>C (n.*75G>C) c.184G>C (p.Ala62Pro) c.271G>C (p.Ala91Pro) | dbSNP |
| X | g.154997072C>T | CA414920084 | F8 | c.289G>A (p.Ala97Thr) c.*75G>A (n.*75G>A) c.184G>A (p.Ala62Thr) c.271G>A (p.Ala91Thr) | |
| X | g.154997073C>A | CA414920086 | F8 | c.288G>T (p.Gln96His) c.*74G>T (n.*74G>T) c.183G>T (p.Gln61His) c.270G>T (p.Gln90His) | |
| X | g.154997073C= | CA2466857796 | F8 | c.288G= (p.Gln96=) c.*74G= (n.*74G=) c.183G= (p.Gln61=) c.270G= (p.Gln90=) | |
| X | g.154997073C>G | CA414920087 | F8 | c.288G>C (p.Gln96His) c.*74G>C (n.*74G>C) c.183G>C (p.Gln61His) c.270G>C (p.Gln90His) | |
| X | g.154997073C>T | CA519384159 | F8 | c.288G>A (p.Gln96=) c.*74G>A (n.*74G>A) c.183G>A (p.Gln61=) c.270G>A (p.Gln90=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154997074T>A | CA414920088 | F8 | c.287A>T (p.Gln96Leu) c.*73A>T (n.*73A>T) c.182A>T (p.Gln61Leu) c.269A>T (p.Gln90Leu) | |
| X | g.154997074T>C | CA414920089 | F8 | c.287A>G (p.Gln96Arg) c.*73A>G (n.*73A>G) c.182A>G (p.Gln61Arg) c.269A>G (p.Gln90Arg) | dbSNP |
| X | g.154997074T>G | CA414920090 | F8 | c.287A>C (p.Gln96Pro) c.*73A>C (n.*73A>C) c.182A>C (p.Gln61Pro) c.269A>C (p.Gln90Pro) | |
| X | g.154997074T= | CA2466857797 | F8 | c.287A= (p.Gln96=) c.*73A= (n.*73A=) c.182A= (p.Gln61=) c.269A= (p.Gln90=) | |
| X | g.154997075G>A | CA414920091 | F8 | c.286C>T (p.Gln96Ter) c.*72C>T (n.*72C>T) c.181C>T (p.Gln61Ter) c.268C>T (p.Gln90Ter) | ClinVar dbSNP |
| X | g.154997075G>C | CA414920092 | F8 | c.286C>G (p.Gln96Glu) c.*72C>G (n.*72C>G) c.181C>G (p.Gln61Glu) c.268C>G (p.Gln90Glu) | |
| X | g.154997075G>T | CA414920093 | F8 | c.286C>A (p.Gln96Lys) c.*72C>A (n.*72C>A) c.181C>A (p.Gln61Lys) c.268C>A (p.Gln90Lys) | |
| X | g.154997076G>A | CA519384160 | F8 | c.285C>T (p.Ile95=) c.*71C>T (n.*71C>T) c.180C>T (p.Ile60=) c.267C>T (p.Ile89=) | |
| X | g.154997076G>C | CA414920094 | F8 | c.285C>G (p.Ile95Met) c.*71C>G (n.*71C>G) c.180C>G (p.Ile60Met) c.267C>G (p.Ile89Met) | |
| X | g.154997076G>T | CA519384161 | F8 | c.285C>A (p.Ile95=) c.*71C>A (n.*71C>A) c.180C>A (p.Ile60=) c.267C>A (p.Ile89=) | |
| X | g.154997077A= | CA2466857798 | F8 | c.284T= (p.Ile95=) c.*70T= (n.*70T=) c.179T= (p.Ile60=) c.266T= (p.Ile89=) | |
| X | g.154997077A>C | CA414920097 | F8 | c.284T>G (p.Ile95Ser) c.*70T>G (n.*70T>G) c.179T>G (p.Ile60Ser) c.266T>G (p.Ile89Ser) | |
| X | g.154997077A>G | CA414920095 | F8 | c.284T>C (p.Ile95Thr) c.*70T>C (n.*70T>C) c.179T>C (p.Ile60Thr) c.266T>C (p.Ile89Thr) | dbSNP |
| X | g.154997077A>T | CA414920096 | F8 | c.284T>A (p.Ile95Asn) c.*70T>A (n.*70T>A) c.179T>A (p.Ile60Asn) c.266T>A (p.Ile89Asn) | |
| X | g.154997078T>A | CA414920098 | F8 | c.283A>T (p.Ile95Phe) c.*69A>T (n.*69A>T) c.178A>T (p.Ile60Phe) c.265A>T (p.Ile89Phe) | |
| X | g.154997078T>C | CA414920099 | F8 | c.283A>G (p.Ile95Val) c.*69A>G (n.*69A>G) c.178A>G (p.Ile60Val) c.265A>G (p.Ile89Val) | |
| X | g.154997078T>G | CA414920100 | F8 | c.283A>C (p.Ile95Leu) c.*69A>C (n.*69A>C) c.178A>C (p.Ile60Leu) c.265A>C (p.Ile89Leu) | |
| X | g.154997079G>A | CA519384162 | F8 | c.282C>T (p.Thr94=) c.*68C>T (n.*68C>T) c.177C>T (p.Thr59=) c.264C>T (p.Thr88=) | dbSNP |
| X | g.154997079G>C | CA519384163 | F8 | c.282C>G (p.Thr94=) c.*68C>G (n.*68C>G) c.177C>G (p.Thr59=) c.264C>G (p.Thr88=) | |
| X | g.154997079G= | CA2466857799 | F8 | c.282C= (p.Thr94=) c.*68C= (n.*68C=) c.177C= (p.Thr59=) c.264C= (p.Thr88=) | |
| X | g.154997079G>T | CA519384164 | F8 | c.282C>A (p.Thr94=) c.*68C>A (n.*68C>A) c.177C>A (p.Thr59=) c.264C>A (p.Thr88=) | |
| X | g.154997080G>A | CA10568602 | F8 | c.281C>T (p.Thr94Ile) c.*67C>T (n.*67C>T) c.176C>T (p.Thr59Ile) c.263C>T (p.Thr88Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154997080G>C | CA414920101 | F8 | c.281C>G (p.Thr94Ser) c.*67C>G (n.*67C>G) c.176C>G (p.Thr59Ser) c.263C>G (p.Thr88Ser) | |
| X | g.154997080G= | CA2466857800 | F8 | c.281C= (p.Thr94=) c.*67C= (n.*67C=) c.176C= (p.Thr59=) c.263C= (p.Thr88=) | |
| X | g.154997080G>T | CA414920102 | F8 | c.281C>A (p.Thr94Asn) c.*67C>A (n.*67C>A) c.176C>A (p.Thr59Asn) c.263C>A (p.Thr88Asn) | |
| X | g.154997081T>A | CA414920103 | F8 | c.280A>T (p.Thr94Ser) c.*66A>T (n.*66A>T) c.175A>T (p.Thr59Ser) c.262A>T (p.Thr88Ser) | |
| X | g.154997081T>C | CA10568603 | F8 | c.280A>G (p.Thr94Ala) c.*66A>G (n.*66A>G) c.175A>G (p.Thr59Ala) c.262A>G (p.Thr88Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154997081T>G | CA414920104 | F8 | c.280A>C (p.Thr94Pro) c.*66A>C (n.*66A>C) c.175A>C (p.Thr59Pro) c.262A>C (p.Thr88Pro) | |
| X | g.154997081T= | CA2466857801 | F8 | c.280A= (p.Thr94=) c.*66A= (n.*66A=) c.175A= (p.Thr59=) c.262A= (p.Thr88=) | |
| X | g.154997082A>C | CA519384165 | F8 | c.279T>G (p.Pro93=) c.*65T>G (n.*65T>G) c.174T>G (p.Pro58=) c.261T>G (p.Pro87=) | |
| X | g.154997082A>G | CA519384167 | F8 | c.279T>C (p.Pro93=) c.*65T>C (n.*65T>C) c.174T>C (p.Pro58=) c.261T>C (p.Pro87=) | |
| X | g.154997082A>T | CA519384166 | F8 | c.279T>A (p.Pro93=) c.*65T>A (n.*65T>A) c.174T>A (p.Pro58=) c.261T>A (p.Pro87=) | |
| X | g.154997083G>A | CA414920106 | F8 | c.278C>T (p.Pro93Leu) c.*64C>T (n.*64C>T) c.173C>T (p.Pro58Leu) c.260C>T (p.Pro87Leu) | |
| X | g.154997083G>C | CA414920107 | F8 | c.278C>G (p.Pro93Arg) c.*64C>G (n.*64C>G) c.173C>G (p.Pro58Arg) c.260C>G (p.Pro87Arg) | |
| X | g.154997083G>T | CA414920105 | F8 | c.278C>A (p.Pro93His) c.*64C>A (n.*64C>A) c.173C>A (p.Pro58His) c.260C>A (p.Pro87His) | |
| X | g.154997084G>A | CA414920108 | F8 | c.277C>T (p.Pro93Ser) c.*63C>T (n.*63C>T) c.172C>T (p.Pro58Ser) c.259C>T (p.Pro87Ser) | |
| X | g.154997084G>C | CA414920109 | F8 | c.277C>G (p.Pro93Ala) c.*63C>G (n.*63C>G) c.172C>G (p.Pro58Ala) c.259C>G (p.Pro87Ala) | |
| X | g.154997084G>T | CA414920110 | F8 | c.277C>A (p.Pro93Thr) c.*63C>A (n.*63C>A) c.172C>A (p.Pro58Thr) c.259C>A (p.Pro87Thr) | COSMIC COSMIC |
| X | g.154997084_154997088dup | CA2695238490 | F8 | c.273_277dup (p.Pro93GlnfsTer?) c.*59_*63dup (n.*59_*63dup) c.168_172dup (p.Pro58GlnfsTer?) c.255_259dup (p.Pro87GlnfsTer?) | |
| X | g.154997085A= | CA2466857802 | F8 | c.276T= (p.Gly92=) c.*62T= (n.*62T=) c.171T= (p.Gly57=) c.258T= (p.Gly86=) | |
| X | g.154997085A>C | CA519384168 | F8 | c.276T>G (p.Gly92=) c.*62T>G (n.*62T>G) c.171T>G (p.Gly57=) c.258T>G (p.Gly86=) | |
| X | g.154997085A>G | CA519384169 | F8 | c.276T>C (p.Gly92=) c.*62T>C (n.*62T>C) c.171T>C (p.Gly57=) c.258T>C (p.Gly86=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154997085A>T | CA519384170 | F8 | c.276T>A (p.Gly92=) c.*62T>A (n.*62T>A) c.171T>A (p.Gly57=) c.258T>A (p.Gly86=) | |
| X | g.154997086C>A | CA255053 | F8 | c.275G>T (p.Gly92Val) c.*61G>T (n.*61G>T) c.170G>T (p.Gly57Val) c.257G>T (p.Gly86Val) | ClinVar dbSNP |
| X | g.154997086C= | CA2466857803 | F8 | c.275G= (p.Gly92=) c.*61G= (n.*61G=) c.170G= (p.Gly57=) c.257G= (p.Gly86=) | |
| X | g.154997086C>G | CA414920111 | F8 | c.275G>C (p.Gly92Ala) c.*61G>C (n.*61G>C) c.170G>C (p.Gly57Ala) c.257G>C (p.Gly86Ala) | dbSNP |
| X | g.154997086C>T | CA414920112 | F8 | c.275G>A (p.Gly92Asp) c.*61G>A (n.*61G>A) c.170G>A (p.Gly57Asp) c.257G>A (p.Gly86Asp) | |
| X | g.154997087C>A | CA414920113 | F8 | c.274G>T (p.Gly92Cys) c.*60G>T (n.*60G>T) c.169G>T (p.Gly57Cys) c.256G>T (p.Gly86Cys) | |
| X | g.154997087C= | CA2466857804 | F8 | c.274G= (p.Gly92=) c.*60G= (n.*60G=) c.169G= (p.Gly57=) c.256G= (p.Gly86=) | |
| X | g.154997087C>G | CA414920114 | F8 | c.274G>C (p.Gly92Arg) c.*60G>C (n.*60G>C) c.169G>C (p.Gly57Arg) c.256G>C (p.Gly86Arg) | |
| X | g.154997087C>T | CA414920115 | F8 | c.274G>A (p.Gly92Ser) c.*60G>A (n.*60G>A) c.169G>A (p.Gly57Ser) c.256G>A (p.Gly86Ser) | ClinVar dbSNP |
| X | g.154997088T>A | CA519384171 | F8 | c.273A>T (p.Leu91=) c.*59A>T (n.*59A>T) c.168A>T (p.Leu56=) c.255A>T (p.Leu85=) | |
| X | g.154997088T>C | CA519384172 | F8 | c.273A>G (p.Leu91=) c.*59A>G (n.*59A>G) c.168A>G (p.Leu56=) c.255A>G (p.Leu85=) | |
| X | g.154997088T>G | CA519384173 | F8 | c.273A>C (p.Leu91=) c.*59A>C (n.*59A>C) c.168A>C (p.Leu56=) c.255A>C (p.Leu85=) | |
| X | g.154997089A>C | CA414920116 | F8 | c.272T>G (p.Leu91Arg) c.*58T>G (n.*58T>G) c.167T>G (p.Leu56Arg) c.254T>G (p.Leu85Arg) | |
| X | g.154997089A>G | CA414920117 | F8 | c.272T>C (p.Leu91Pro) c.*58T>C (n.*58T>C) c.167T>C (p.Leu56Pro) c.254T>C (p.Leu85Pro) | |
| X | g.154997089A>T | CA414920118 | F8 | c.272T>A (p.Leu91Gln) c.*58T>A (n.*58T>A) c.167T>A (p.Leu56Gln) c.254T>A (p.Leu85Gln) | |
| X | g.154997090G>A | CA519384174 | F8 | c.271C>T (p.Leu91=) c.*57C>T (n.*57C>T) c.166C>T (p.Leu56=) c.253C>T (p.Leu85=) | |
| X | g.154997090G>C | CA414920119 | F8 | c.271C>G (p.Leu91Val) c.*57C>G (n.*57C>G) c.166C>G (p.Leu56Val) c.253C>G (p.Leu85Val) | |
| X | g.154997090G>T | CA414920120 | F8 | c.271C>A (p.Leu91Ile) c.*57C>A (n.*57C>A) c.166C>A (p.Leu56Ile) c.253C>A (p.Leu85Ile) | |
| X | g.154997090_154997091delinsGC | CA2466857805 | F8 | c.270_271delinsGC (p.Leu90=) c.*56_*57delinsGC (n.*56_*57delinsGC) c.165_166delinsGC (p.Leu55=) c.252_253delinsGC (p.Leu84=) | |
| X | g.154997091del | CA645509239 | F8 | c.270del (p.Leu91Ter) c.*56del (n.*56del) c.165del (p.Leu56Ter) c.252del (p.Leu85Ter) | ClinVar dbSNP |
| X | g.154997091C>A | CA519384176 | F8 | c.270G>T (p.Leu90=) c.*56G>T (n.*56G>T) c.165G>T (p.Leu55=) c.252G>T (p.Leu84=) | |
| X | g.154997091C>G | CA519384177 | F8 | c.270G>C (p.Leu90=) c.*56G>C (n.*56G>C) c.165G>C (p.Leu55=) c.252G>C (p.Leu84=) | |
| X | g.154997091C>T | CA519384175 | F8 | c.270G>A (p.Leu90=) c.*56G>A (n.*56G>A) c.165G>A (p.Leu55=) c.252G>A (p.Leu84=) | |
| X | g.154997092A= | CA2466857806 | F8 | c.269T= (p.Leu90=) c.*55T= (n.*55T=) c.164T= (p.Leu55=) c.251T= (p.Leu84=) | |
| X | g.154997092A>C | CA414920121 | F8 | c.269T>G (p.Leu90Arg) c.*55T>G (n.*55T>G) c.164T>G (p.Leu55Arg) c.251T>G (p.Leu84Arg) | dbSNP |
| X | g.154997092A>G | CA414920122 | F8 | c.269T>C (p.Leu90Pro) c.*55T>C (n.*55T>C) c.164T>C (p.Leu55Pro) c.251T>C (p.Leu84Pro) | |
| X | g.154997092A>T | CA414920123 | F8 | c.269T>A (p.Leu90Gln) c.*55T>A (n.*55T>A) c.164T>A (p.Leu55Gln) c.251T>A (p.Leu84Gln) | |
| X | g.154997093G>A | CA519384178 | F8 | c.268C>T (p.Leu90=) c.*54C>T (n.*54C>T) c.163C>T (p.Leu55=) c.250C>T (p.Leu84=) | |
| X | g.154997093G>C | CA414920124 | F8 | c.268C>G (p.Leu90Val) c.*54C>G (n.*54C>G) c.163C>G (p.Leu55Val) c.250C>G (p.Leu84Val) | |
| X | g.154997093G>T | CA414920125 | F8 | c.268C>A (p.Leu90Met) c.*54C>A (n.*54C>A) c.163C>A (p.Leu55Met) c.250C>A (p.Leu84Met) | COSMIC COSMIC |
| X | g.154997094A= | CA2466857807 | F8 | c.267T= (p.Gly89=) c.*53T= (n.*53T=) c.162T= (p.Gly54=) c.249T= (p.Gly83=) | |
| X | g.154997094A>C | CA519384180 | F8 | c.267T>G (p.Gly89=) c.*53T>G (n.*53T>G) c.162T>G (p.Gly54=) c.249T>G (p.Gly83=) | |
| X | g.154997094A>G | CA10568604 | F8 | c.267T>C (p.Gly89=) c.*53T>C (n.*53T>C) c.162T>C (p.Gly54=) c.249T>C (p.Gly83=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154997094A>T | CA519384179 | F8 | c.267T>A (p.Gly89=) c.*53T>A (n.*53T>A) c.162T>A (p.Gly54=) c.249T>A (p.Gly83=) | |
| X | g.154997095C>A | CA414920126 | F8 | c.266G>T (p.Gly89Val) c.*52G>T (n.*52G>T) c.161G>T (p.Gly54Val) c.248G>T (p.Gly83Val) | dbSNP |
| X | g.154997095C= | CA2466857808 | F8 | c.266G= (p.Gly89=) c.*52G= (n.*52G=) c.161G= (p.Gly54=) c.248G= (p.Gly83=) | |
| X | g.154997095C>G | CA414920127 | F8 | c.266G>C (p.Gly89Ala) c.*52G>C (n.*52G>C) c.161G>C (p.Gly54Ala) c.248G>C (p.Gly83Ala) | |
| X | g.154997095C>T | CA255052 | F8 | c.266G>A (p.Gly89Asp) c.*52G>A (n.*52G>A) c.161G>A (p.Gly54Asp) c.248G>A (p.Gly83Asp) | ClinVar dbSNP |
| X | g.154997096C>A | CA414920128 | F8 | c.266-1G>T (n.266-1G>T) c.*52-1G>T (n.*52-1G>T) c.161-1G>T (n.161-1G>T) c.248-1G>T (n.248-1G>T) | |
| X | g.154997096C= | CA2466857809 | F8 | c.266-1G= (n.266-1G=) c.*52-1G= (n.*52-1G=) c.161-1G= (n.161-1G=) c.248-1G= (n.248-1G=) | |
| X | g.154997096C>G | CA414920129 | F8 | c.266-1G>C (n.266-1G>C) c.*52-1G>C (n.*52-1G>C) c.161-1G>C (n.161-1G>C) c.248-1G>C (n.248-1G>C) | |
| X | g.154997096C>T | CA414920130 | F8 | c.266-1G>A (n.266-1G>A) c.*52-1G>A (n.*52-1G>A) c.161-1G>A (n.161-1G>A) c.248-1G>A (n.248-1G>A) | dbSNP |
| X | g.154997097T>A | CA414920133 | F8 | c.266-2A>T (n.266-2A>T) c.*52-2A>T (n.*52-2A>T) c.161-2A>T (n.161-2A>T) c.248-2A>T (n.248-2A>T) | |
| X | g.154997097T>C | CA414920132 | F8 | c.266-2A>G (n.266-2A>G) c.*52-2A>G (n.*52-2A>G) c.161-2A>G (n.161-2A>G) c.248-2A>G (n.248-2A>G) | |
| X | g.154997097T>G | CA414920131 | F8 | c.266-2A>C (n.266-2A>C) c.*52-2A>C (n.*52-2A>C) c.161-2A>C (n.161-2A>C) c.248-2A>C (n.248-2A>C) | |
| X | g.154997098del | CA1139771750 | F8 | c.266-3del (n.266-3del) c.*52-3del (n.*52-3del) c.161-3del (n.161-3del) c.248-3del (n.248-3del) | |
| X | g.154997099del | CA2579744905 | F8 | c.266-4del (n.266-4del) c.*52-4del (n.*52-4del) c.161-4del (n.161-4del) c.248-4del (n.248-4del) | |
| X | g.154997103A>G | CA2695170243 | F8 | c.266-8T>C (n.266-8T>C) c.*52-8T>C (n.*52-8T>C) c.161-8T>C (n.161-8T>C) c.248-8T>C (n.248-8T>C) | gnomAD v4 |
| X | g.154997104A= | CA2466857810 | F8 | c.266-9T= (n.266-9T=) c.*52-9T= (n.*52-9T=) c.161-9T= (n.161-9T=) c.248-9T= (n.248-9T=) | |
| X | g.154997104A>G | CA2466857811 | F8 | c.266-9T>C (n.266-9T>C) c.*52-9T>C (n.*52-9T>C) c.161-9T>C (n.161-9T>C) c.248-9T>C (n.248-9T>C) | dbSNP |
| X | g.154997105T>G | CA2579744906 | F8 | c.266-10A>C (n.266-10A>C) c.*52-10A>C (n.*52-10A>C) c.161-10A>C (n.161-10A>C) c.248-10A>C (n.248-10A>C) | gnomAD v4 |
| X | g.154997106G= | CA2466857812 | F8 | c.266-11C= (n.266-11C=) c.*52-11C= (n.*52-11C=) c.161-11C= (n.161-11C=) c.248-11C= (n.248-11C=) | |
| X | g.154997106G>T | CA10568605 | F8 | c.266-11C>A (n.266-11C>A) c.*52-11C>A (n.*52-11C>A) c.161-11C>A (n.161-11C>A) c.248-11C>A (n.248-11C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154997109A>C | CA2695238491 | F8 | c.266-14T>G (n.266-14T>G) c.*52-14T>G (n.*52-14T>G) c.161-14T>G (n.161-14T>G) c.248-14T>G (n.248-14T>G) | |
| X | g.154997111G>A | CA2466857814 | F8 | c.266-16C>T (n.266-16C>T) c.*52-16C>T (n.*52-16C>T) c.161-16C>T (n.161-16C>T) c.248-16C>T (n.248-16C>T) | dbSNP |
| X | g.154997111G= | CA2466857813 | F8 | c.266-16C= (n.266-16C=) c.*52-16C= (n.*52-16C=) c.161-16C= (n.161-16C=) c.248-16C= (n.248-16C=) | |
| X | g.154997112T>C | CA2579744907 | F8 | c.266-17A>G (n.266-17A>G) c.*52-17A>G (n.*52-17A>G) c.161-17A>G (n.161-17A>G) c.248-17A>G (n.248-17A>G) | gnomAD v4 |
| X | g.154997112T>G | CA2695170244 | F8 | c.266-17A>C (n.266-17A>C) c.*52-17A>C (n.*52-17A>C) c.161-17A>C (n.161-17A>C) c.248-17A>C (n.248-17A>C) | gnomAD v4 |
| X | g.154997113C>A | CA2695170245 | F8 | c.266-18G>T (n.266-18G>T) c.*52-18G>T (n.*52-18G>T) c.161-18G>T (n.161-18G>T) c.248-18G>T (n.248-18G>T) | gnomAD v4 |
| X | g.154997114C= | CA2466857815 | F8 | c.266-19G= (n.266-19G=) c.*52-19G= (n.*52-19G=) c.161-19G= (n.161-19G=) c.248-19G= (n.248-19G=) | |
| X | g.154997114C>T | CA10568606 | F8 | c.266-19G>A (n.266-19G>A) c.*52-19G>A (n.*52-19G>A) c.161-19G>A (n.161-19G>A) c.248-19G>A (n.248-19G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154997115G>A | CA10568607 | F8 | c.266-20C>T (n.266-20C>T) c.*52-20C>T (n.*52-20C>T) c.161-20C>T (n.161-20C>T) c.248-20C>T (n.248-20C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154997115G>C | CA2466857817 | F8 | c.266-20C>G (n.266-20C>G) c.*52-20C>G (n.*52-20C>G) c.161-20C>G (n.161-20C>G) c.248-20C>G (n.248-20C>G) | dbSNP |
| X | g.154997115G= | CA2466857816 | F8 | c.266-20C= (n.266-20C=) c.*52-20C= (n.*52-20C=) c.161-20C= (n.161-20C=) c.248-20C= (n.248-20C=) | |
| X | g.154997122G= | CA2466857818 | F8 | c.266-27C= (n.266-27C=) c.*52-27C= (n.*52-27C=) c.161-27C= (n.161-27C=) c.248-27C= (n.248-27C=) | |
| X | g.154997122G>T | CA10568608 | F8 | c.266-27C>A (n.266-27C>A) c.*52-27C>A (n.*52-27C>A) c.161-27C>A (n.161-27C>A) c.248-27C>A (n.248-27C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154997124del | CA2579744908 | F8 | c.266-28del (n.266-28del) c.*52-28del (n.*52-28del) c.161-28del (n.161-28del) c.248-28del (n.248-28del) | |
| X | g.154997124T>G | CA2695170246 | F8 | c.266-29A>C (n.266-29A>C) c.*52-29A>C (n.*52-29A>C) c.161-29A>C (n.161-29A>C) c.248-29A>C (n.248-29A>C) | gnomAD v4 |
| X | g.154997127T>C | CA873357739 | F8 | c.266-32A>G (n.266-32A>G) c.*52-32A>G (n.*52-32A>G) c.161-32A>G (n.161-32A>G) c.248-32A>G (n.248-32A>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154997127T= | CA2466857819 | F8 | c.266-32A= (n.266-32A=) c.*52-32A= (n.*52-32A=) c.161-32A= (n.161-32A=) c.248-32A= (n.248-32A=) |