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This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.74891413A>C | CA393170997 | MPI | c.179A>C (p.Lys60Thr) c.29A>C (p.Lys10Thr) c.*75A>C (n.*75A>C) c.119A>C (p.Lys40Thr) n.210A>C c.140A>C (p.Lys47Thr) c.145-2A>C (n.145-2A>C) n.288A>C c.236A>C (p.Lys79Thr) c.167A>C (p.Lys56Thr) | |
| 15 | g.74891413A>G | CA393170999 | MPI | c.179A>G (p.Lys60Arg) c.29A>G (p.Lys10Arg) c.*75A>G (n.*75A>G) c.119A>G (p.Lys40Arg) n.210A>G c.140A>G (p.Lys47Arg) c.145-2A>G (n.145-2A>G) n.288A>G c.236A>G (p.Lys79Arg) c.167A>G (p.Lys56Arg) | |
| 15 | g.74891413A>T | CA393170994 | MPI | c.179A>T (p.Lys60Met) c.29A>T (p.Lys10Met) c.*75A>T (n.*75A>T) c.119A>T (p.Lys40Met) n.210A>T c.140A>T (p.Lys47Met) c.145-2A>T (n.145-2A>T) n.288A>T c.236A>T (p.Lys79Met) c.167A>T (p.Lys56Met) | |
| 15 | g.74891414G>A | CA393171008 | MPI | c.180G>A (p.Lys60=) c.30G>A (p.Lys10=) c.*76G>A (n.*76G>A) c.120G>A (p.Lys40=) n.211G>A c.141G>A (p.Lys47=) c.145-1G>A (n.145-1G>A) n.289G>A c.237G>A (p.Lys79=) c.168G>A (p.Lys56=) | ClinVar |
| 15 | g.74891414G>C | CA393171011 | MPI | c.180G>C (p.Lys60Asn) c.30G>C (p.Lys10Asn) c.*76G>C (n.*76G>C) c.120G>C (p.Lys40Asn) n.211G>C c.141G>C (p.Lys47Asn) c.145-1G>C (n.145-1G>C) n.289G>C c.237G>C (p.Lys79Asn) c.168G>C (p.Lys56Asn) | |
| 15 | g.74891414G>T | CA393171010 | MPI | c.180G>T (p.Lys60Asn) c.30G>T (p.Lys10Asn) c.*76G>T (n.*76G>T) c.120G>T (p.Lys40Asn) n.211G>T c.141G>T (p.Lys47Asn) c.145-1G>T (n.145-1G>T) n.289G>T c.237G>T (p.Lys79Asn) c.168G>T (p.Lys56Asn) | gnomAD v4 |
| 15 | g.74891415A= | CA2187895597 | MPI | c.181A= (p.Ile61=) c.31A= (p.Ile11=) c.*77A= (n.*77A=) c.121A= (p.Ile41=) n.212A= c.142A= (p.Ile48=) c.145A= (p.Ile49=) n.290A= c.238A= (p.Ile80=) c.169A= (p.Ile57=) | |
| 15 | g.74891415A>C | CA393171012 | MPI | c.181A>C (p.Ile61Leu) c.31A>C (p.Ile11Leu) c.*77A>C (n.*77A>C) c.121A>C (p.Ile41Leu) n.212A>C c.142A>C (p.Ile48Leu) c.145A>C (p.Ile49Leu) n.290A>C c.238A>C (p.Ile80Leu) c.169A>C (p.Ile57Leu) | |
| 15 | g.74891415A>G | CA393171017 | MPI | c.181A>G (p.Ile61Val) c.31A>G (p.Ile11Val) c.*77A>G (n.*77A>G) c.121A>G (p.Ile41Val) n.212A>G c.142A>G (p.Ile48Val) c.145A>G (p.Ile49Val) n.290A>G c.238A>G (p.Ile80Val) c.169A>G (p.Ile57Val) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.74891415A>T | CA393171014 | MPI | c.181A>T (p.Ile61Phe) c.31A>T (p.Ile11Phe) c.*77A>T (n.*77A>T) c.121A>T (p.Ile41Phe) n.212A>T c.142A>T (p.Ile48Phe) c.145A>T (p.Ile49Phe) n.290A>T c.238A>T (p.Ile80Phe) c.169A>T (p.Ile57Phe) | |
| 15 | g.74891416T>A | CA393171020 | MPI | c.182T>A (p.Ile61Asn) c.32T>A (p.Ile11Asn) c.*78T>A (n.*78T>A) c.122T>A (p.Ile41Asn) n.213T>A c.143T>A (p.Ile48Asn) c.146T>A (p.Ile49Asn) n.291T>A c.239T>A (p.Ile80Asn) c.170T>A (p.Ile57Asn) | |
| 15 | g.74891416T>C | CA393171024 | MPI | c.182T>C (p.Ile61Thr) c.32T>C (p.Ile11Thr) c.*78T>C (n.*78T>C) c.122T>C (p.Ile41Thr) n.213T>C c.143T>C (p.Ile48Thr) c.146T>C (p.Ile49Thr) n.291T>C c.239T>C (p.Ile80Thr) c.170T>C (p.Ile57Thr) | |
| 15 | g.74891416T>G | CA393171031 | MPI | c.182T>G (p.Ile61Ser) c.32T>G (p.Ile11Ser) c.*78T>G (n.*78T>G) c.122T>G (p.Ile41Ser) n.213T>G c.143T>G (p.Ile48Ser) c.146T>G (p.Ile49Ser) n.291T>G c.239T>G (p.Ile80Ser) c.170T>G (p.Ile57Ser) | |
| 15 | g.74891417C>A | CA7662387 | MPI | c.183C>A (p.Ile61=) c.33C>A (p.Ile11=) c.*79C>A (n.*79C>A) c.123C>A (p.Ile41=) n.214C>A c.144C>A (p.Ile48=) c.147C>A (p.Ile49=) n.292C>A c.240C>A (p.Ile80=) c.171C>A (p.Ile57=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74891417C= | CA2187895600 | MPI | c.183C= (p.Ile61=) c.33C= (p.Ile11=) c.*79C= (n.*79C=) c.123C= (p.Ile41=) n.214C= c.144C= (p.Ile48=) c.147C= (p.Ile49=) n.292C= c.240C= (p.Ile80=) c.171C= (p.Ile57=) | |
| 15 | g.74891417C>G | CA393171037 | MPI | c.183C>G (p.Ile61Met) c.33C>G (p.Ile11Met) c.*79C>G (n.*79C>G) c.123C>G (p.Ile41Met) n.214C>G c.144C>G (p.Ile48Met) c.147C>G (p.Ile49Met) n.292C>G c.240C>G (p.Ile80Met) c.171C>G (p.Ile57Met) | |
| 15 | g.74891417C>T | CA491220080 | MPI | c.183C>T (p.Ile61=) c.33C>T (p.Ile11=) c.*79C>T (n.*79C>T) c.123C>T (p.Ile41=) n.214C>T c.144C>T (p.Ile48=) c.147C>T (p.Ile49=) n.292C>T c.240C>T (p.Ile80=) c.171C>T (p.Ile57=) | |
| 15 | g.74891417_74891418delinsAA | CA2580089984 | MPI | c.183_184delinsAA (p.Leu62Ile) c.33_34delinsAA (p.Leu12Ile) c.*79_*80delinsAA (n.*79_*80delinsAA) c.123_124delinsAA (p.Leu42Ile) n.214_215delinsAA c.144_145delinsAA (p.Leu49Ile) c.147_148delinsAA (p.Leu50Ile) n.292_293delinsAA c.240_241delinsAA (p.Leu81Ile) c.171_172delinsAA (p.Leu58Ile) | ClinVar |
| 15 | g.74891418C>A | CA7662388 | MPI | c.184C>A (p.Leu62Ile) c.34C>A (p.Leu12Ile) c.*80C>A (n.*80C>A) c.124C>A (p.Leu42Ile) n.215C>A c.145C>A (p.Leu49Ile) c.148C>A (p.Leu50Ile) n.293C>A c.241C>A (p.Leu81Ile) c.172C>A (p.Leu58Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74891418C= | CA2187895606 | MPI | c.184C= (p.Leu62=) c.34C= (p.Leu12=) c.*80C= (n.*80C=) c.124C= (p.Leu42=) n.215C= c.145C= (p.Leu49=) c.148C= (p.Leu50=) n.293C= c.241C= (p.Leu81=) c.172C= (p.Leu58=) | |
| 15 | g.74891418C>G | CA393171045 | MPI | c.184C>G (p.Leu62Val) c.34C>G (p.Leu12Val) c.*80C>G (n.*80C>G) c.124C>G (p.Leu42Val) n.215C>G c.145C>G (p.Leu49Val) c.148C>G (p.Leu50Val) n.293C>G c.241C>G (p.Leu81Val) c.172C>G (p.Leu58Val) | |
| 15 | g.74891418C>T | CA393171043 | MPI | c.184C>T (p.Leu62Phe) c.34C>T (p.Leu12Phe) c.*80C>T (n.*80C>T) c.124C>T (p.Leu42Phe) n.215C>T c.145C>T (p.Leu49Phe) c.148C>T (p.Leu50Phe) n.293C>T c.241C>T (p.Leu81Phe) c.172C>T (p.Leu58Phe) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.74891419T>A | CA393171050 | MPI | c.185T>A (p.Leu62His) c.35T>A (p.Leu12His) c.*81T>A (n.*81T>A) c.125T>A (p.Leu42His) n.216T>A c.146T>A (p.Leu49His) c.149T>A (p.Leu50His) n.294T>A c.242T>A (p.Leu81His) c.173T>A (p.Leu58His) | |
| 15 | g.74891419T>C | CA393171052 | MPI | c.185T>C (p.Leu62Pro) c.35T>C (p.Leu12Pro) c.*81T>C (n.*81T>C) c.125T>C (p.Leu42Pro) n.216T>C c.146T>C (p.Leu49Pro) c.149T>C (p.Leu50Pro) n.294T>C c.242T>C (p.Leu81Pro) c.173T>C (p.Leu58Pro) | gnomAD v4 |
| 15 | g.74891419T>G | CA393171056 | MPI | c.185T>G (p.Leu62Arg) c.35T>G (p.Leu12Arg) c.*81T>G (n.*81T>G) c.125T>G (p.Leu42Arg) n.216T>G c.146T>G (p.Leu49Arg) c.149T>G (p.Leu50Arg) n.294T>G c.242T>G (p.Leu81Arg) c.173T>G (p.Leu58Arg) | |
| 15 | g.74891420T>A | CA491220081 | MPI | c.186T>A (p.Leu62=) c.36T>A (p.Leu12=) c.*82T>A (n.*82T>A) c.126T>A (p.Leu42=) n.217T>A c.147T>A (p.Leu49=) c.150T>A (p.Leu50=) n.295T>A c.243T>A (p.Leu81=) c.174T>A (p.Leu58=) | |
| 15 | g.74891420T>C | CA491220082 | MPI | c.186T>C (p.Leu62=) c.36T>C (p.Leu12=) c.*82T>C (n.*82T>C) c.126T>C (p.Leu42=) n.217T>C c.147T>C (p.Leu49=) c.150T>C (p.Leu50=) n.295T>C c.243T>C (p.Leu81=) c.174T>C (p.Leu58=) | |
| 15 | g.74891420T>G | CA491220083 | MPI | c.186T>G (p.Leu62=) c.36T>G (p.Leu12=) c.*82T>G (n.*82T>G) c.126T>G (p.Leu42=) n.217T>G c.147T>G (p.Leu49=) c.150T>G (p.Leu50=) n.295T>G c.243T>G (p.Leu81=) c.174T>G (p.Leu58=) | |
| 15 | g.74891421G>A | CA393171058 | MPI | c.187G>A (p.Asp63Asn) c.37G>A (p.Asp13Asn) c.*83G>A (n.*83G>A) c.127G>A (p.Asp43Asn) n.218G>A c.148G>A (p.Asp50Asn) c.151G>A (p.Asp51Asn) n.296G>A c.244G>A (p.Asp82Asn) c.175G>A (p.Asp59Asn) | |
| 15 | g.74891421G>C | CA393171062 | MPI | c.187G>C (p.Asp63His) c.37G>C (p.Asp13His) c.*83G>C (n.*83G>C) c.127G>C (p.Asp43His) n.218G>C c.148G>C (p.Asp50His) c.151G>C (p.Asp51His) n.296G>C c.244G>C (p.Asp82His) c.175G>C (p.Asp59His) | |
| 15 | g.74891421G>T | CA393171065 | MPI | c.187G>T (p.Asp63Tyr) c.37G>T (p.Asp13Tyr) c.*83G>T (n.*83G>T) c.127G>T (p.Asp43Tyr) n.218G>T c.148G>T (p.Asp50Tyr) c.151G>T (p.Asp51Tyr) n.296G>T c.244G>T (p.Asp82Tyr) c.175G>T (p.Asp59Tyr) | gnomAD v4 |
| 15 | g.74891421_74891434delinsGACAACCGCATCTC | CA2187895608 | MPI | c.187_200delinsGACAACCGCATCTC (p.Asp63=) c.37_50delinsGACAACCGCATCTC (p.Asp13=) c.*83_*96delinsGACAACCGCATCTC (n.*83_*96delinsGACAACCGCATCTC) c.127_140delinsGACAACCGCATCTC (p.Asp43=) n.218_231delinsGACAACCGCATCTC c.148_161delinsGACAACCGCATCTC (p.Asp50=) c.151_164delinsGACAACCGCATCTC (p.Asp51=) n.296_309delinsGACAACCGCATCTC c.244_257delinsGACAACCGCATCTC (p.Asp82=) c.175_188delinsGACAACCGCATCTC (p.Asp59=) | |
| 15 | g.74891422A>C | CA393171069 | MPI | c.188A>C (p.Asp63Ala) c.38A>C (p.Asp13Ala) c.*84A>C (n.*84A>C) c.128A>C (p.Asp43Ala) n.219A>C c.149A>C (p.Asp50Ala) c.152A>C (p.Asp51Ala) n.297A>C c.245A>C (p.Asp82Ala) c.176A>C (p.Asp59Ala) | |
| 15 | g.74891422A>G | CA393171074 | MPI | c.188A>G (p.Asp63Gly) c.38A>G (p.Asp13Gly) c.*84A>G (n.*84A>G) c.128A>G (p.Asp43Gly) n.219A>G c.149A>G (p.Asp50Gly) c.152A>G (p.Asp51Gly) n.297A>G c.245A>G (p.Asp82Gly) c.176A>G (p.Asp59Gly) | |
| 15 | g.74891422A>T | CA393171073 | MPI | c.188A>T (p.Asp63Val) c.38A>T (p.Asp13Val) c.*84A>T (n.*84A>T) c.128A>T (p.Asp43Val) n.219A>T c.149A>T (p.Asp50Val) c.152A>T (p.Asp51Val) n.297A>T c.245A>T (p.Asp82Val) c.176A>T (p.Asp59Val) | |
| 15 | g.74891425_74891437del | CA971517085 | MPI | c.191_203del (p.Asn64ArgfsTer4) c.41_53del (p.Asn14ArgfsTer4) c.*87_*99del (n.*87_*99del) c.131_143del (p.Asn44ArgfsTer4) n.222_234del c.152_164del (p.Asn51ArgfsTer4) c.155_167del (p.Asn52ArgfsTer4) n.300_312del c.248_260del (p.Asn83ArgfsTer4) c.179_191del (p.Asn60ArgfsTer4) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.74891423C>A | CA393171077 | MPI | c.189C>A (p.Asp63Glu) c.39C>A (p.Asp13Glu) c.*85C>A (n.*85C>A) c.129C>A (p.Asp43Glu) n.220C>A c.150C>A (p.Asp50Glu) c.153C>A (p.Asp51Glu) n.298C>A c.246C>A (p.Asp82Glu) c.177C>A (p.Asp59Glu) | |
| 15 | g.74891423C>G | CA393171081 | MPI | c.189C>G (p.Asp63Glu) c.39C>G (p.Asp13Glu) c.*85C>G (n.*85C>G) c.129C>G (p.Asp43Glu) n.220C>G c.150C>G (p.Asp50Glu) c.153C>G (p.Asp51Glu) n.298C>G c.246C>G (p.Asp82Glu) c.177C>G (p.Asp59Glu) | |
| 15 | g.74891423C>T | CA491220084 | MPI | c.189C>T (p.Asp63=) c.39C>T (p.Asp13=) c.*85C>T (n.*85C>T) c.129C>T (p.Asp43=) n.220C>T c.150C>T (p.Asp50=) c.153C>T (p.Asp51=) n.298C>T c.246C>T (p.Asp82=) c.177C>T (p.Asp59=) | |
| 15 | g.74891424A= | CA2187895611 | MPI | c.190A= (p.Asn64=) c.40A= (p.Asn14=) c.*86A= (n.*86A=) c.130A= (p.Asn44=) n.221A= c.151A= (p.Asn51=) c.154A= (p.Asn52=) n.299A= c.247A= (p.Asn83=) c.178A= (p.Asn60=) | |
| 15 | g.74891424A>C | CA393171086 | MPI | c.190A>C (p.Asn64His) c.40A>C (p.Asn14His) c.*86A>C (n.*86A>C) c.130A>C (p.Asn44His) n.221A>C c.151A>C (p.Asn51His) c.154A>C (p.Asn52His) n.299A>C c.247A>C (p.Asn83His) c.178A>C (p.Asn60His) | ClinVar |
| 15 | g.74891424A>G | CA393171088 | MPI | c.190A>G (p.Asn64Asp) c.40A>G (p.Asn14Asp) c.*86A>G (n.*86A>G) c.130A>G (p.Asn44Asp) n.221A>G c.151A>G (p.Asn51Asp) c.154A>G (p.Asn52Asp) n.299A>G c.247A>G (p.Asn83Asp) c.178A>G (p.Asn60Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74891424A>T | CA393171091 | MPI | c.190A>T (p.Asn64Tyr) c.40A>T (p.Asn14Tyr) c.*86A>T (n.*86A>T) c.130A>T (p.Asn44Tyr) n.221A>T c.151A>T (p.Asn51Tyr) c.154A>T (p.Asn52Tyr) n.299A>T c.247A>T (p.Asn83Tyr) c.178A>T (p.Asn60Tyr) | |
| 15 | g.74891425A>C | CA393171096 | MPI | c.191A>C (p.Asn64Thr) c.41A>C (p.Asn14Thr) c.*87A>C (n.*87A>C) c.131A>C (p.Asn44Thr) n.222A>C c.152A>C (p.Asn51Thr) c.155A>C (p.Asn52Thr) n.300A>C c.248A>C (p.Asn83Thr) c.179A>C (p.Asn60Thr) | |
| 15 | g.74891425A>G | CA393171099 | MPI | c.191A>G (p.Asn64Ser) c.41A>G (p.Asn14Ser) c.*87A>G (n.*87A>G) c.131A>G (p.Asn44Ser) n.222A>G c.152A>G (p.Asn51Ser) c.155A>G (p.Asn52Ser) n.300A>G c.248A>G (p.Asn83Ser) c.179A>G (p.Asn60Ser) | gnomAD v4 |
| 15 | g.74891425A>T | CA393171102 | MPI | c.191A>T (p.Asn64Ile) c.41A>T (p.Asn14Ile) c.*87A>T (n.*87A>T) c.131A>T (p.Asn44Ile) n.222A>T c.152A>T (p.Asn51Ile) c.155A>T (p.Asn52Ile) n.300A>T c.248A>T (p.Asn83Ile) c.179A>T (p.Asn60Ile) | |
| 15 | g.74891425_74891426delinsAC | CA2187895613 | MPI | c.191_192delinsAC (p.Asn64=) c.41_42delinsAC (p.Asn14=) c.*87_*88delinsAC (n.*87_*88delinsAC) c.131_132delinsAC (p.Asn44=) n.222_223delinsAC c.152_153delinsAC (p.Asn51=) c.155_156delinsAC (p.Asn52=) n.300_301delinsAC c.248_249delinsAC (p.Asn83=) c.179_180delinsAC (p.Asn60=) | |
| 15 | g.74891426C>A | CA393171107 | MPI | c.192C>A (p.Asn64Lys) c.42C>A (p.Asn14Lys) c.*88C>A (n.*88C>A) c.132C>A (p.Asn44Lys) n.223C>A c.153C>A (p.Asn51Lys) c.156C>A (p.Asn52Lys) n.301C>A c.249C>A (p.Asn83Lys) c.180C>A (p.Asn60Lys) | |
| 15 | g.74891426C>G | CA393171109 | MPI | c.192C>G (p.Asn64Lys) c.42C>G (p.Asn14Lys) c.*88C>G (n.*88C>G) c.132C>G (p.Asn44Lys) n.223C>G c.153C>G (p.Asn51Lys) c.156C>G (p.Asn52Lys) n.301C>G c.249C>G (p.Asn83Lys) c.180C>G (p.Asn60Lys) | gnomAD v4 |
| 15 | g.74891426C>T | CA491220086 | MPI | c.192C>T (p.Asn64=) c.42C>T (p.Asn14=) c.*88C>T (n.*88C>T) c.132C>T (p.Asn44=) n.223C>T c.153C>T (p.Asn51=) c.156C>T (p.Asn52=) n.301C>T c.249C>T (p.Asn83=) c.180C>T (p.Asn60=) | |
| 15 | g.74891427del | CA7662389 | MPI | c.193del (p.Arg65AlafsTer7) c.43del (p.Arg15AlafsTer7) c.*89del (n.*89del) c.133del (p.Arg45AlafsTer7) n.224del c.154del (p.Arg52AlafsTer7) c.157del (p.Arg53AlafsTer7) n.302del c.250del (p.Arg84AlafsTer7) c.181del (p.Arg61AlafsTer7) | dbSNP ExAC gnomAD v2 |
| 15 | g.74891427C>A | CA393171113 | MPI | c.193C>A (p.Arg65Ser) c.43C>A (p.Arg15Ser) c.*89C>A (n.*89C>A) c.133C>A (p.Arg45Ser) n.224C>A c.154C>A (p.Arg52Ser) c.157C>A (p.Arg53Ser) n.302C>A c.250C>A (p.Arg84Ser) c.181C>A (p.Arg61Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.74891427C= | CA2187895618 | MPI | c.193C= (p.Arg65=) c.43C= (p.Arg15=) c.*89C= (n.*89C=) c.133C= (p.Arg45=) n.224C= c.154C= (p.Arg52=) c.157C= (p.Arg53=) n.302C= c.250C= (p.Arg84=) c.181C= (p.Arg61=) | |
| 15 | g.74891427C>G | CA393171119 | MPI | c.193C>G (p.Arg65Gly) c.43C>G (p.Arg15Gly) c.*89C>G (n.*89C>G) c.133C>G (p.Arg45Gly) n.224C>G c.154C>G (p.Arg52Gly) c.157C>G (p.Arg53Gly) n.302C>G c.250C>G (p.Arg84Gly) c.181C>G (p.Arg61Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.74891427C>T | CA7662390 | MPI | c.193C>T (p.Arg65Cys) c.43C>T (p.Arg15Cys) c.*89C>T (n.*89C>T) c.133C>T (p.Arg45Cys) n.224C>T c.154C>T (p.Arg52Cys) c.157C>T (p.Arg53Cys) n.302C>T c.250C>T (p.Arg84Cys) c.181C>T (p.Arg61Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74891428G>A | CA7662391 | MPI | c.194G>A (p.Arg65His) c.44G>A (p.Arg15His) c.*90G>A (n.*90G>A) c.134G>A (p.Arg45His) n.225G>A c.155G>A (p.Arg52His) c.158G>A (p.Arg53His) n.303G>A c.251G>A (p.Arg84His) c.182G>A (p.Arg61His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.74891428G>C | CA393171125 | MPI | c.194G>C (p.Arg65Pro) c.44G>C (p.Arg15Pro) c.*90G>C (n.*90G>C) c.134G>C (p.Arg45Pro) n.225G>C c.155G>C (p.Arg52Pro) c.158G>C (p.Arg53Pro) n.303G>C c.251G>C (p.Arg84Pro) c.182G>C (p.Arg61Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.74891428G= | CA2187895622 | MPI | c.194G= (p.Arg65=) c.44G= (p.Arg15=) c.*90G= (n.*90G=) c.134G= (p.Arg45=) n.225G= c.155G= (p.Arg52=) c.158G= (p.Arg53=) n.303G= c.251G= (p.Arg84=) c.182G= (p.Arg61=) | |
| 15 | g.74891428G>T | CA393171133 | MPI | c.194G>T (p.Arg65Leu) c.44G>T (p.Arg15Leu) c.*90G>T (n.*90G>T) c.134G>T (p.Arg45Leu) n.225G>T c.155G>T (p.Arg52Leu) c.158G>T (p.Arg53Leu) n.303G>T c.251G>T (p.Arg84Leu) c.182G>T (p.Arg61Leu) | dbSNP |
| 15 | g.74891429C>A | CA491220088 | MPI | c.195C>A (p.Arg65=) c.45C>A (p.Arg15=) c.*91C>A (n.*91C>A) c.135C>A (p.Arg45=) n.226C>A c.156C>A (p.Arg52=) c.159C>A (p.Arg53=) n.304C>A c.252C>A (p.Arg84=) c.183C>A (p.Arg61=) | |
| 15 | g.74891429C>G | CA491220089 | MPI | c.195C>G (p.Arg65=) c.45C>G (p.Arg15=) c.*91C>G (n.*91C>G) c.135C>G (p.Arg45=) n.226C>G c.156C>G (p.Arg52=) c.159C>G (p.Arg53=) n.304C>G c.252C>G (p.Arg84=) c.183C>G (p.Arg61=) | |
| 15 | g.74891429C>T | CA491220091 | MPI | c.195C>T (p.Arg65=) c.45C>T (p.Arg15=) c.*91C>T (n.*91C>T) c.135C>T (p.Arg45=) n.226C>T c.156C>T (p.Arg52=) c.159C>T (p.Arg53=) n.304C>T c.252C>T (p.Arg84=) c.183C>T (p.Arg61=) | |
| 15 | g.74891430A>C | CA393171137 | MPI | c.196A>C (p.Ile66Leu) c.46A>C (p.Ile16Leu) c.*92A>C (n.*92A>C) c.136A>C (p.Ile46Leu) n.227A>C c.157A>C (p.Ile53Leu) c.160A>C (p.Ile54Leu) n.305A>C c.253A>C (p.Ile85Leu) c.184A>C (p.Ile62Leu) | |
| 15 | g.74891430A>G | CA393171139 | MPI | c.196A>G (p.Ile66Val) c.46A>G (p.Ile16Val) c.*92A>G (n.*92A>G) c.136A>G (p.Ile46Val) n.227A>G c.157A>G (p.Ile53Val) c.160A>G (p.Ile54Val) n.305A>G c.253A>G (p.Ile85Val) c.184A>G (p.Ile62Val) | |
| 15 | g.74891430A>T | CA393171144 | MPI | c.196A>T (p.Ile66Phe) c.46A>T (p.Ile16Phe) c.*92A>T (n.*92A>T) c.136A>T (p.Ile46Phe) n.227A>T c.157A>T (p.Ile53Phe) c.160A>T (p.Ile54Phe) n.305A>T c.253A>T (p.Ile85Phe) c.184A>T (p.Ile62Phe) | |
| 15 | g.74891431T>A | CA393171148 | MPI | c.197T>A (p.Ile66Asn) c.47T>A (p.Ile16Asn) c.*93T>A (n.*93T>A) c.137T>A (p.Ile46Asn) n.228T>A c.158T>A (p.Ile53Asn) c.161T>A (p.Ile54Asn) n.306T>A c.254T>A (p.Ile85Asn) c.185T>A (p.Ile62Asn) | |
| 15 | g.74891431T>C | CA393171152 | MPI | c.197T>C (p.Ile66Thr) c.47T>C (p.Ile16Thr) c.*93T>C (n.*93T>C) c.137T>C (p.Ile46Thr) n.228T>C c.158T>C (p.Ile53Thr) c.161T>C (p.Ile54Thr) n.306T>C c.254T>C (p.Ile85Thr) c.185T>C (p.Ile62Thr) | |
| 15 | g.74891431T>G | CA393171156 | MPI | c.197T>G (p.Ile66Ser) c.47T>G (p.Ile16Ser) c.*93T>G (n.*93T>G) c.137T>G (p.Ile46Ser) n.228T>G c.158T>G (p.Ile53Ser) c.161T>G (p.Ile54Ser) n.306T>G c.254T>G (p.Ile85Ser) c.185T>G (p.Ile62Ser) | |
| 15 | g.74891432C>A | CA491220094 | MPI | c.198C>A (p.Ile66=) c.48C>A (p.Ile16=) c.*94C>A (n.*94C>A) c.138C>A (p.Ile46=) n.229C>A c.159C>A (p.Ile53=) c.162C>A (p.Ile54=) n.307C>A c.255C>A (p.Ile85=) c.186C>A (p.Ile62=) | |
| 15 | g.74891432C>G | CA393171158 | MPI | c.198C>G (p.Ile66Met) c.48C>G (p.Ile16Met) c.*94C>G (n.*94C>G) c.138C>G (p.Ile46Met) n.229C>G c.159C>G (p.Ile53Met) c.162C>G (p.Ile54Met) n.307C>G c.255C>G (p.Ile85Met) c.186C>G (p.Ile62Met) | gnomAD v4 |
| 15 | g.74891432C>T | CA491220095 | MPI | c.198C>T (p.Ile66=) c.48C>T (p.Ile16=) c.*94C>T (n.*94C>T) c.138C>T (p.Ile46=) n.229C>T c.159C>T (p.Ile53=) c.162C>T (p.Ile54=) n.307C>T c.255C>T (p.Ile85=) c.186C>T (p.Ile62=) | |
| 15 | g.74891433T>A | CA393171162 | MPI | c.199T>A (p.Ser67Thr) c.49T>A (p.Ser17Thr) c.*95T>A (n.*95T>A) c.139T>A (p.Ser47Thr) n.230T>A c.160T>A (p.Ser54Thr) c.163T>A (p.Ser55Thr) n.308T>A c.256T>A (p.Ser86Thr) c.187T>A (p.Ser63Thr) | |
| 15 | g.74891433T>C | CA393171165 | MPI | c.199T>C (p.Ser67Pro) c.49T>C (p.Ser17Pro) c.*95T>C (n.*95T>C) c.139T>C (p.Ser47Pro) n.230T>C c.160T>C (p.Ser54Pro) c.163T>C (p.Ser55Pro) n.308T>C c.256T>C (p.Ser86Pro) c.187T>C (p.Ser63Pro) | |
| 15 | g.74891433T>G | CA393171169 | MPI | c.199T>G (p.Ser67Ala) c.49T>G (p.Ser17Ala) c.*95T>G (n.*95T>G) c.139T>G (p.Ser47Ala) n.230T>G c.160T>G (p.Ser54Ala) c.163T>G (p.Ser55Ala) n.308T>G c.256T>G (p.Ser86Ala) c.187T>G (p.Ser63Ala) | |
| 15 | g.74891433dup | CA2580613290 | MPI | c.199dup (p.Ser67PhefsTer11) c.49dup (p.Ser17PhefsTer11) c.*95dup (n.*95dup) c.139dup (p.Ser47PhefsTer11) n.230dup c.160dup (p.Ser54PhefsTer11) c.163dup (p.Ser55PhefsTer11) n.308dup c.256dup (p.Ser86PhefsTer11) c.187dup (p.Ser63PhefsTer11) | ClinVar |
| 15 | g.74891434C>A | CA393171172 | MPI | c.200C>A (p.Ser67Ter) c.50C>A (p.Ser17Ter) c.*96C>A (n.*96C>A) c.140C>A (p.Ser47Ter) n.231C>A c.161C>A (p.Ser54Ter) c.164C>A (p.Ser55Ter) n.309C>A c.257C>A (p.Ser86Ter) c.188C>A (p.Ser63Ter) | |
| 15 | g.74891434C>G | CA393171176 | MPI | c.200C>G (p.Ser67Ter) c.50C>G (p.Ser17Ter) c.*96C>G (n.*96C>G) c.140C>G (p.Ser47Ter) n.231C>G c.161C>G (p.Ser54Ter) c.164C>G (p.Ser55Ter) n.309C>G c.257C>G (p.Ser86Ter) c.188C>G (p.Ser63Ter) | |
| 15 | g.74891434C>T | CA393171174 | MPI | c.200C>T (p.Ser67Leu) c.50C>T (p.Ser17Leu) c.*96C>T (n.*96C>T) c.140C>T (p.Ser47Leu) n.231C>T c.161C>T (p.Ser54Leu) c.164C>T (p.Ser55Leu) n.309C>T c.257C>T (p.Ser86Leu) c.188C>T (p.Ser63Leu) | |
| 15 | g.74891435A= | CA2187895625 | MPI | c.201A= (p.Ser67=) c.51A= (p.Ser17=) c.*97A= (n.*97A=) c.141A= (p.Ser47=) n.232A= c.162A= (p.Ser54=) c.165A= (p.Ser55=) n.310A= c.258A= (p.Ser86=) c.189A= (p.Ser63=) | |
| 15 | g.74891435A>C | CA491220098 | MPI | c.201A>C (p.Ser67=) c.51A>C (p.Ser17=) c.*97A>C (n.*97A>C) c.141A>C (p.Ser47=) n.232A>C c.162A>C (p.Ser54=) c.165A>C (p.Ser55=) n.310A>C c.258A>C (p.Ser86=) c.189A>C (p.Ser63=) | |
| 15 | g.74891435A>G | CA491220099 | MPI | c.201A>G (p.Ser67=) c.51A>G (p.Ser17=) c.*97A>G (n.*97A>G) c.141A>G (p.Ser47=) n.232A>G c.162A>G (p.Ser54=) c.165A>G (p.Ser55=) n.310A>G c.258A>G (p.Ser86=) c.189A>G (p.Ser63=) | dbSNP |
| 15 | g.74891435A>T | CA491220097 | MPI | c.201A>T (p.Ser67=) c.51A>T (p.Ser17=) c.*97A>T (n.*97A>T) c.141A>T (p.Ser47=) n.232A>T c.162A>T (p.Ser54=) c.165A>T (p.Ser55=) n.310A>T c.258A>T (p.Ser86=) c.189A>T (p.Ser63=) | |
| 15 | g.74891436C>A | CA393171180 | MPI | c.202C>A (p.Gln68Lys) c.52C>A (p.Gln18Lys) c.*98C>A (n.*98C>A) c.142C>A (p.Gln48Lys) n.233C>A c.163C>A (p.Gln55Lys) c.166C>A (p.Gln56Lys) n.311C>A c.259C>A (p.Gln87Lys) c.190C>A (p.Gln64Lys) | |
| 15 | g.74891436C>G | CA393171183 | MPI | c.202C>G (p.Gln68Glu) c.52C>G (p.Gln18Glu) c.*98C>G (n.*98C>G) c.142C>G (p.Gln48Glu) n.233C>G c.163C>G (p.Gln55Glu) c.166C>G (p.Gln56Glu) n.311C>G c.259C>G (p.Gln87Glu) c.190C>G (p.Gln64Glu) | |
| 15 | g.74891436C>T | CA393171186 | MPI | c.202C>T (p.Gln68Ter) c.52C>T (p.Gln18Ter) c.*98C>T (n.*98C>T) c.142C>T (p.Gln48Ter) n.233C>T c.163C>T (p.Gln55Ter) c.166C>T (p.Gln56Ter) n.311C>T c.259C>T (p.Gln87Ter) c.190C>T (p.Gln64Ter) | |
| 15 | g.74891437A>C | CA393171190 | MPI | c.203A>C (p.Gln68Pro) c.53A>C (p.Gln18Pro) c.*99A>C (n.*99A>C) c.143A>C (p.Gln48Pro) n.234A>C c.164A>C (p.Gln55Pro) c.167A>C (p.Gln56Pro) n.312A>C c.260A>C (p.Gln87Pro) c.191A>C (p.Gln64Pro) | |
| 15 | g.74891437A>G | CA393171196 | MPI | c.203A>G (p.Gln68Arg) c.53A>G (p.Gln18Arg) c.*99A>G (n.*99A>G) c.143A>G (p.Gln48Arg) n.234A>G c.164A>G (p.Gln55Arg) c.167A>G (p.Gln56Arg) n.312A>G c.260A>G (p.Gln87Arg) c.191A>G (p.Gln64Arg) | |
| 15 | g.74891437A>T | CA393171198 | MPI | c.203A>T (p.Gln68Leu) c.53A>T (p.Gln18Leu) c.*99A>T (n.*99A>T) c.143A>T (p.Gln48Leu) n.234A>T c.164A>T (p.Gln55Leu) c.167A>T (p.Gln56Leu) n.312A>T c.260A>T (p.Gln87Leu) c.191A>T (p.Gln64Leu) | |
| 15 | g.74891438G>A | CA7662392 | MPI | c.204G>A (p.Gln68=) c.54G>A (p.Gln18=) c.*100G>A (n.*100G>A) c.144G>A (p.Gln48=) n.235G>A c.165G>A (p.Gln55=) c.168G>A (p.Gln56=) n.313G>A c.261G>A (p.Gln87=) c.192G>A (p.Gln64=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74891438G>C | CA393171206 | MPI | c.204G>C (p.Gln68His) c.54G>C (p.Gln18His) c.*100G>C (n.*100G>C) c.144G>C (p.Gln48His) n.235G>C c.165G>C (p.Gln55His) c.168G>C (p.Gln56His) n.313G>C c.261G>C (p.Gln87His) c.192G>C (p.Gln64His) | |
| 15 | g.74891438G= | CA2187895629 | MPI | c.204G= (p.Gln68=) c.54G= (p.Gln18=) c.*100G= (n.*100G=) c.144G= (p.Gln48=) n.235G= c.165G= (p.Gln55=) c.168G= (p.Gln56=) n.313G= c.261G= (p.Gln87=) c.192G= (p.Gln64=) | |
| 15 | g.74891438G>T | CA393171209 | MPI | c.204G>T (p.Gln68His) c.54G>T (p.Gln18His) c.*100G>T (n.*100G>T) c.144G>T (p.Gln48His) n.235G>T c.165G>T (p.Gln55His) c.168G>T (p.Gln56His) n.313G>T c.261G>T (p.Gln87His) c.192G>T (p.Gln64His) | |
| 15 | g.74891439A>C | CA393171215 | MPI | c.205A>C (p.Lys69Gln) c.55A>C (p.Lys19Gln) c.*101A>C (n.*101A>C) c.145A>C (p.Lys49Gln) n.236A>C c.166A>C (p.Lys56Gln) c.169A>C (p.Lys57Gln) n.314A>C c.262A>C (p.Lys88Gln) c.193A>C (p.Lys65Gln) | |
| 15 | g.74891439A>G | CA393171213 | MPI | c.205A>G (p.Lys69Glu) c.55A>G (p.Lys19Glu) c.*101A>G (n.*101A>G) c.145A>G (p.Lys49Glu) n.236A>G c.166A>G (p.Lys56Glu) c.169A>G (p.Lys57Glu) n.314A>G c.262A>G (p.Lys88Glu) c.193A>G (p.Lys65Glu) | |
| 15 | g.74891439A>T | CA393171211 | MPI | c.205A>T (p.Lys69Ter) c.55A>T (p.Lys19Ter) c.*101A>T (n.*101A>T) c.145A>T (p.Lys49Ter) n.236A>T c.166A>T (p.Lys56Ter) c.169A>T (p.Lys57Ter) n.314A>T c.262A>T (p.Lys88Ter) c.193A>T (p.Lys65Ter) | |
| 15 | g.74891440del | CA2697549216 | MPI | c.206del (p.Lys69ArgfsTer3) c.56del (p.Lys19ArgfsTer3) c.*102del (n.*102del) c.146del (p.Lys49ArgfsTer3) n.237del c.167del (p.Lys56ArgfsTer3) c.170del (p.Lys57ArgfsTer3) n.315del c.263del (p.Lys88ArgfsTer3) c.194del (p.Lys65ArgfsTer3) | ClinVar |
| 15 | g.74891440A>C | CA393171218 | MPI | c.206A>C (p.Lys69Thr) c.56A>C (p.Lys19Thr) c.*102A>C (n.*102A>C) c.146A>C (p.Lys49Thr) n.237A>C c.167A>C (p.Lys56Thr) c.170A>C (p.Lys57Thr) n.315A>C c.263A>C (p.Lys88Thr) c.194A>C (p.Lys65Thr) | |
| 15 | g.74891440A>G | CA393171225 | MPI | c.206A>G (p.Lys69Arg) c.56A>G (p.Lys19Arg) c.*102A>G (n.*102A>G) c.146A>G (p.Lys49Arg) n.237A>G c.167A>G (p.Lys56Arg) c.170A>G (p.Lys57Arg) n.315A>G c.263A>G (p.Lys88Arg) c.194A>G (p.Lys65Arg) | |
| 15 | g.74891440A>T | CA393171221 | MPI | c.206A>T (p.Lys69Met) c.56A>T (p.Lys19Met) c.*102A>T (n.*102A>T) c.146A>T (p.Lys49Met) n.237A>T c.167A>T (p.Lys56Met) c.170A>T (p.Lys57Met) n.315A>T c.263A>T (p.Lys88Met) c.194A>T (p.Lys65Met) | |
| 15 | g.74891441G>A | CA491220101 | MPI | c.207G>A (p.Lys69=) c.57G>A (p.Lys19=) c.*103G>A (n.*103G>A) c.147G>A (p.Lys49=) n.238G>A c.168G>A (p.Lys56=) c.171G>A (p.Lys57=) n.316G>A c.264G>A (p.Lys88=) c.195G>A (p.Lys65=) | ClinVar |
| 15 | g.74891441G>C | CA393171227 | MPI | c.207G>C (p.Lys69Asn) c.57G>C (p.Lys19Asn) c.*103G>C (n.*103G>C) c.147G>C (p.Lys49Asn) n.238G>C c.168G>C (p.Lys56Asn) c.171G>C (p.Lys57Asn) n.316G>C c.264G>C (p.Lys88Asn) c.195G>C (p.Lys65Asn) | |
| 15 | g.74891441G>T | CA393171233 | MPI | c.207G>T (p.Lys69Asn) c.57G>T (p.Lys19Asn) c.*103G>T (n.*103G>T) c.147G>T (p.Lys49Asn) n.238G>T c.168G>T (p.Lys56Asn) c.171G>T (p.Lys57Asn) n.316G>T c.264G>T (p.Lys88Asn) c.195G>T (p.Lys65Asn) | |
| 15 | g.74891442A>C | CA393171237 | MPI | c.208A>C (p.Thr70Pro) c.58A>C (p.Thr20Pro) c.*104A>C (n.*104A>C) c.148A>C (p.Thr50Pro) n.239A>C c.169A>C (p.Thr57Pro) c.172A>C (p.Thr58Pro) n.317A>C c.265A>C (p.Thr89Pro) c.196A>C (p.Thr66Pro) | |
| 15 | g.74891442A>G | CA393171239 | MPI | c.208A>G (p.Thr70Ala) c.58A>G (p.Thr20Ala) c.*104A>G (n.*104A>G) c.148A>G (p.Thr50Ala) n.239A>G c.169A>G (p.Thr57Ala) c.172A>G (p.Thr58Ala) n.317A>G c.265A>G (p.Thr89Ala) c.196A>G (p.Thr66Ala) | |
| 15 | g.74891442A>T | CA393171241 | MPI | c.208A>T (p.Thr70Ser) c.58A>T (p.Thr20Ser) c.*104A>T (n.*104A>T) c.148A>T (p.Thr50Ser) n.239A>T c.169A>T (p.Thr57Ser) c.172A>T (p.Thr58Ser) n.317A>T c.265A>T (p.Thr89Ser) c.196A>T (p.Thr66Ser) | |
| 15 | g.74891443C>A | CA393171246 | MPI | c.209C>A (p.Thr70Asn) c.59C>A (p.Thr20Asn) c.*105C>A (n.*105C>A) c.149C>A (p.Thr50Asn) n.240C>A c.170C>A (p.Thr57Asn) c.173C>A (p.Thr58Asn) n.318C>A c.266C>A (p.Thr89Asn) c.197C>A (p.Thr66Asn) | |
| 15 | g.74891443C>G | CA393171247 | MPI | c.209C>G (p.Thr70Ser) c.59C>G (p.Thr20Ser) c.*105C>G (n.*105C>G) c.149C>G (p.Thr50Ser) n.240C>G c.170C>G (p.Thr57Ser) c.173C>G (p.Thr58Ser) n.318C>G c.266C>G (p.Thr89Ser) c.197C>G (p.Thr66Ser) | |
| 15 | g.74891443C>T | CA393171257 | MPI | c.209C>T (p.Thr70Ile) c.59C>T (p.Thr20Ile) c.*105C>T (n.*105C>T) c.149C>T (p.Thr50Ile) n.240C>T c.170C>T (p.Thr57Ile) c.173C>T (p.Thr58Ile) n.318C>T c.266C>T (p.Thr89Ile) c.197C>T (p.Thr66Ile) | |
| 15 | g.74891444C>A | CA491220104 | MPI | c.210C>A (p.Thr70=) c.60C>A (p.Thr20=) c.*106C>A (n.*106C>A) c.150C>A (p.Thr50=) n.241C>A c.171C>A (p.Thr57=) c.174C>A (p.Thr58=) n.319C>A c.267C>A (p.Thr89=) c.198C>A (p.Thr66=) | |
| 15 | g.74891444C>G | CA491220105 | MPI | c.210C>G (p.Thr70=) c.60C>G (p.Thr20=) c.*106C>G (n.*106C>G) c.150C>G (p.Thr50=) n.241C>G c.171C>G (p.Thr57=) c.174C>G (p.Thr58=) n.319C>G c.267C>G (p.Thr89=) c.198C>G (p.Thr66=) | |
| 15 | g.74891444C>T | CA491220107 | MPI | c.210C>T (p.Thr70=) c.60C>T (p.Thr20=) c.*106C>T (n.*106C>T) c.150C>T (p.Thr50=) n.241C>T c.171C>T (p.Thr57=) c.174C>T (p.Thr58=) n.319C>T c.267C>T (p.Thr89=) c.198C>T (p.Thr66=) | |
| 15 | g.74891445C>A | CA393171258 | MPI | c.211C>A (p.Leu71Ile) c.61C>A (p.Leu21Ile) c.*107C>A (n.*107C>A) c.151C>A (p.Leu51Ile) n.242C>A c.172C>A (p.Leu58Ile) c.175C>A (p.Leu59Ile) n.320C>A c.268C>A (p.Leu90Ile) c.199C>A (p.Leu67Ile) | |
| 15 | g.74891445C>G | CA393171260 | MPI | c.211C>G (p.Leu71Val) c.61C>G (p.Leu21Val) c.*107C>G (n.*107C>G) c.151C>G (p.Leu51Val) n.242C>G c.172C>G (p.Leu58Val) c.175C>G (p.Leu59Val) n.320C>G c.268C>G (p.Leu90Val) c.199C>G (p.Leu67Val) | |
| 15 | g.74891445C>T | CA491220108 | MPI | c.211C>T (p.Leu71=) c.61C>T (p.Leu21=) c.*107C>T (n.*107C>T) c.151C>T (p.Leu51=) n.242C>T c.172C>T (p.Leu58=) c.175C>T (p.Leu59=) n.320C>T c.268C>T (p.Leu90=) c.199C>T (p.Leu67=) | |
| 15 | g.74891446T>A | CA393171263 | MPI | c.212T>A (p.Leu71Gln) c.62T>A (p.Leu21Gln) c.*108T>A (n.*108T>A) c.152T>A (p.Leu51Gln) n.243T>A c.173T>A (p.Leu58Gln) c.176T>A (p.Leu59Gln) n.321T>A c.269T>A (p.Leu90Gln) c.200T>A (p.Leu67Gln) | |
| 15 | g.74891446T>C | CA393171266 | MPI | c.212T>C (p.Leu71Pro) c.62T>C (p.Leu21Pro) c.*108T>C (n.*108T>C) c.152T>C (p.Leu51Pro) n.243T>C c.173T>C (p.Leu58Pro) c.176T>C (p.Leu59Pro) n.321T>C c.269T>C (p.Leu90Pro) c.200T>C (p.Leu67Pro) | |
| 15 | g.74891446T>G | CA393171267 | MPI | c.212T>G (p.Leu71Arg) c.62T>G (p.Leu21Arg) c.*108T>G (n.*108T>G) c.152T>G (p.Leu51Arg) n.243T>G c.173T>G (p.Leu58Arg) c.176T>G (p.Leu59Arg) n.321T>G c.269T>G (p.Leu90Arg) c.200T>G (p.Leu67Arg) | |
| 15 | g.74891447A>C | CA491220109 | MPI | c.213A>C (p.Leu71=) c.63A>C (p.Leu21=) c.*109A>C (n.*109A>C) c.153A>C (p.Leu51=) n.244A>C c.174A>C (p.Leu58=) c.177A>C (p.Leu59=) n.322A>C c.270A>C (p.Leu90=) c.201A>C (p.Leu67=) | |
| 15 | g.74891447A>G | CA491220110 | MPI | c.213A>G (p.Leu71=) c.63A>G (p.Leu21=) c.*109A>G (n.*109A>G) c.153A>G (p.Leu51=) n.244A>G c.174A>G (p.Leu58=) c.177A>G (p.Leu59=) n.322A>G c.270A>G (p.Leu90=) c.201A>G (p.Leu67=) | |
| 15 | g.74891447A>T | CA491220111 | MPI | c.213A>T (p.Leu71=) c.63A>T (p.Leu21=) c.*109A>T (n.*109A>T) c.153A>T (p.Leu51=) n.244A>T c.174A>T (p.Leu58=) c.177A>T (p.Leu59=) n.322A>T c.270A>T (p.Leu90=) c.201A>T (p.Leu67=) | |
| 15 | g.74891448A= | CA2187895633 | MPI | c.214A= (p.Ser72=) c.64A= (p.Ser22=) c.*110A= (n.*110A=) c.154A= (p.Ser52=) n.245A= c.175A= (p.Ser59=) c.178A= (p.Ser60=) n.323A= c.271A= (p.Ser91=) c.202A= (p.Ser68=) | |
| 15 | g.74891448A>C | CA7662393 | MPI | c.214A>C (p.Ser72Arg) c.64A>C (p.Ser22Arg) c.*110A>C (n.*110A>C) c.154A>C (p.Ser52Arg) n.245A>C c.175A>C (p.Ser59Arg) c.178A>C (p.Ser60Arg) n.323A>C c.271A>C (p.Ser91Arg) c.202A>C (p.Ser68Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74891448A>G | CA393171275 | MPI | c.214A>G (p.Ser72Gly) c.64A>G (p.Ser22Gly) c.*110A>G (n.*110A>G) c.154A>G (p.Ser52Gly) n.245A>G c.175A>G (p.Ser59Gly) c.178A>G (p.Ser60Gly) n.323A>G c.271A>G (p.Ser91Gly) c.202A>G (p.Ser68Gly) | |
| 15 | g.74891448A>T | CA393171274 | MPI | c.214A>T (p.Ser72Cys) c.64A>T (p.Ser22Cys) c.*110A>T (n.*110A>T) c.154A>T (p.Ser52Cys) n.245A>T c.175A>T (p.Ser59Cys) c.178A>T (p.Ser60Cys) n.323A>T c.271A>T (p.Ser91Cys) c.202A>T (p.Ser68Cys) | |
| 15 | g.74891449G>A | CA393171276 | MPI | c.215G>A (p.Ser72Asn) c.65G>A (p.Ser22Asn) c.*111G>A (n.*111G>A) c.155G>A (p.Ser52Asn) n.246G>A c.176G>A (p.Ser59Asn) c.179G>A (p.Ser60Asn) n.324G>A c.272G>A (p.Ser91Asn) c.203G>A (p.Ser68Asn) | |
| 15 | g.74891449G>C | CA393171278 | MPI | c.215G>C (p.Ser72Thr) c.65G>C (p.Ser22Thr) c.*111G>C (n.*111G>C) c.155G>C (p.Ser52Thr) n.246G>C c.176G>C (p.Ser59Thr) c.179G>C (p.Ser60Thr) n.324G>C c.272G>C (p.Ser91Thr) c.203G>C (p.Ser68Thr) | |
| 15 | g.74891449G>T | CA393171281 | MPI | c.215G>T (p.Ser72Ile) c.65G>T (p.Ser22Ile) c.*111G>T (n.*111G>T) c.155G>T (p.Ser52Ile) n.246G>T c.176G>T (p.Ser59Ile) c.179G>T (p.Ser60Ile) n.324G>T c.272G>T (p.Ser91Ile) c.203G>T (p.Ser68Ile) | |
| 15 | g.74891450C>A | CA393171285 | MPI | c.216C>A (p.Ser72Arg) c.66C>A (p.Ser22Arg) c.*112C>A (n.*112C>A) c.156C>A (p.Ser52Arg) n.247C>A c.177C>A (p.Ser59Arg) c.180C>A (p.Ser60Arg) n.325C>A c.273C>A (p.Ser91Arg) c.204C>A (p.Ser68Arg) | |
| 15 | g.74891450C= | CA2187895640 | MPI | c.216C= (p.Ser72=) c.66C= (p.Ser22=) c.*112C= (n.*112C=) c.156C= (p.Ser52=) n.247C= c.177C= (p.Ser59=) c.180C= (p.Ser60=) n.325C= c.273C= (p.Ser91=) c.204C= (p.Ser68=) | |
| 15 | g.74891450C>G | CA393171289 | MPI | c.216C>G (p.Ser72Arg) c.66C>G (p.Ser22Arg) c.*112C>G (n.*112C>G) c.156C>G (p.Ser52Arg) n.247C>G c.177C>G (p.Ser59Arg) c.180C>G (p.Ser60Arg) n.325C>G c.273C>G (p.Ser91Arg) c.204C>G (p.Ser68Arg) | |
| 15 | g.74891450C>T | CA7662394 | MPI | c.216C>T (p.Ser72=) c.66C>T (p.Ser22=) c.*112C>T (n.*112C>T) c.156C>T (p.Ser52=) n.247C>T c.177C>T (p.Ser59=) c.180C>T (p.Ser60=) n.325C>T c.273C>T (p.Ser91=) c.204C>T (p.Ser68=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74891451C>A | CA393171291 | MPI | c.217C>A (p.Gln73Lys) c.67C>A (p.Gln23Lys) c.*113C>A (n.*113C>A) c.157C>A (p.Gln53Lys) n.248C>A c.178C>A (p.Gln60Lys) c.181C>A (p.Gln61Lys) n.326C>A c.274C>A (p.Gln92Lys) c.205C>A (p.Gln69Lys) | |
| 15 | g.74891451C>G | CA393171293 | MPI | c.217C>G (p.Gln73Glu) c.67C>G (p.Gln23Glu) c.*113C>G (n.*113C>G) c.157C>G (p.Gln53Glu) n.248C>G c.178C>G (p.Gln60Glu) c.181C>G (p.Gln61Glu) n.326C>G c.274C>G (p.Gln92Glu) c.205C>G (p.Gln69Glu) | |
| 15 | g.74891451C>T | CA393171295 | MPI | c.217C>T (p.Gln73Ter) c.67C>T (p.Gln23Ter) c.*113C>T (n.*113C>T) c.157C>T (p.Gln53Ter) n.248C>T c.178C>T (p.Gln60Ter) c.181C>T (p.Gln61Ter) n.326C>T c.274C>T (p.Gln92Ter) c.205C>T (p.Gln69Ter) | |
| 15 | g.74891452A>C | CA393171303 | MPI | c.218A>C (p.Gln73Pro) c.68A>C (p.Gln23Pro) c.*114A>C (n.*114A>C) c.158A>C (p.Gln53Pro) n.249A>C c.179A>C (p.Gln60Pro) c.182A>C (p.Gln61Pro) n.327A>C c.275A>C (p.Gln92Pro) c.206A>C (p.Gln69Pro) | |
| 15 | g.74891452A>G | CA393171301 | MPI | c.218A>G (p.Gln73Arg) c.68A>G (p.Gln23Arg) c.*114A>G (n.*114A>G) c.158A>G (p.Gln53Arg) n.249A>G c.179A>G (p.Gln60Arg) c.182A>G (p.Gln61Arg) n.327A>G c.275A>G (p.Gln92Arg) c.206A>G (p.Gln69Arg) | |
| 15 | g.74891452A>T | CA393171299 | MPI | c.218A>T (p.Gln73Leu) c.68A>T (p.Gln23Leu) c.*114A>T (n.*114A>T) c.158A>T (p.Gln53Leu) n.249A>T c.179A>T (p.Gln60Leu) c.182A>T (p.Gln61Leu) n.327A>T c.275A>T (p.Gln92Leu) c.206A>T (p.Gln69Leu) | |
| 15 | g.74891453G>A | CA491220118 | MPI | c.219G>A (p.Gln73=) c.69G>A (p.Gln23=) c.*115G>A (n.*115G>A) c.159G>A (p.Gln53=) n.250G>A c.180G>A (p.Gln60=) c.183G>A (p.Gln61=) n.328G>A c.276G>A (p.Gln92=) c.207G>A (p.Gln69=) | |
| 15 | g.74891453G>C | CA393171305 | MPI | c.219G>C (p.Gln73His) c.69G>C (p.Gln23His) c.*115G>C (n.*115G>C) c.159G>C (p.Gln53His) n.250G>C c.180G>C (p.Gln60His) c.183G>C (p.Gln61His) n.328G>C c.276G>C (p.Gln92His) c.207G>C (p.Gln69His) | |
| 15 | g.74891453G>T | CA393171307 | MPI | c.219G>T (p.Gln73His) c.69G>T (p.Gln23His) c.*115G>T (n.*115G>T) c.159G>T (p.Gln53His) n.250G>T c.180G>T (p.Gln60His) c.183G>T (p.Gln61His) n.328G>T c.276G>T (p.Gln92His) c.207G>T (p.Gln69His) | |
| 15 | g.74891454T>A | CA393171309 | MPI | c.220T>A (p.Trp74Arg) c.70T>A (p.Trp24Arg) c.*116T>A (n.*116T>A) c.160T>A (p.Trp54Arg) n.251T>A c.181T>A (p.Trp61Arg) c.184T>A (p.Trp62Arg) n.329T>A c.277T>A (p.Trp93Arg) c.208T>A (p.Trp70Arg) | |
| 15 | g.74891454T>C | CA393171312 | MPI | c.220T>C (p.Trp74Arg) c.70T>C (p.Trp24Arg) c.*116T>C (n.*116T>C) c.160T>C (p.Trp54Arg) n.251T>C c.181T>C (p.Trp61Arg) c.184T>C (p.Trp62Arg) n.329T>C c.277T>C (p.Trp93Arg) c.208T>C (p.Trp70Arg) | |
| 15 | g.74891454T>G | CA393171314 | MPI | c.220T>G (p.Trp74Gly) c.70T>G (p.Trp24Gly) c.*116T>G (n.*116T>G) c.160T>G (p.Trp54Gly) n.251T>G c.181T>G (p.Trp61Gly) c.184T>G (p.Trp62Gly) n.329T>G c.277T>G (p.Trp93Gly) c.208T>G (p.Trp70Gly) | |
| 15 | g.74891455G>A | CA393171317 | MPI | c.221G>A (p.Trp74Ter) c.71G>A (p.Trp24Ter) c.*117G>A (n.*117G>A) c.161G>A (p.Trp54Ter) n.252G>A c.182G>A (p.Trp61Ter) c.185G>A (p.Trp62Ter) n.330G>A c.278G>A (p.Trp93Ter) c.209G>A (p.Trp70Ter) | |
| 15 | g.74891455G>C | CA393171319 | MPI | c.221G>C (p.Trp74Ser) c.71G>C (p.Trp24Ser) c.*117G>C (n.*117G>C) c.161G>C (p.Trp54Ser) n.252G>C c.182G>C (p.Trp61Ser) c.185G>C (p.Trp62Ser) n.330G>C c.278G>C (p.Trp93Ser) c.209G>C (p.Trp70Ser) | |
| 15 | g.74891455G>T | CA393171322 | MPI | c.221G>T (p.Trp74Leu) c.71G>T (p.Trp24Leu) c.*117G>T (n.*117G>T) c.161G>T (p.Trp54Leu) n.252G>T c.182G>T (p.Trp61Leu) c.185G>T (p.Trp62Leu) n.330G>T c.278G>T (p.Trp93Leu) c.209G>T (p.Trp70Leu) | |
| 15 | g.74891456G>A | CA393171325 | MPI | c.222G>A (p.Trp74Ter) c.72G>A (p.Trp24Ter) c.*118G>A (n.*118G>A) c.162G>A (p.Trp54Ter) n.253G>A c.183G>A (p.Trp61Ter) c.186G>A (p.Trp62Ter) n.331G>A c.279G>A (p.Trp93Ter) c.210G>A (p.Trp70Ter) | ClinVar |
| 15 | g.74891456G>C | CA393171326 | MPI | c.222G>C (p.Trp74Cys) c.72G>C (p.Trp24Cys) c.*118G>C (n.*118G>C) c.162G>C (p.Trp54Cys) n.253G>C c.183G>C (p.Trp61Cys) c.186G>C (p.Trp62Cys) n.331G>C c.279G>C (p.Trp93Cys) c.210G>C (p.Trp70Cys) | |
| 15 | g.74891456G>T | CA393171328 | MPI | c.222G>T (p.Trp74Cys) c.72G>T (p.Trp24Cys) c.*118G>T (n.*118G>T) c.162G>T (p.Trp54Cys) n.253G>T c.183G>T (p.Trp61Cys) c.186G>T (p.Trp62Cys) n.331G>T c.279G>T (p.Trp93Cys) c.210G>T (p.Trp70Cys) | |
| 15 | g.74891457A>C | CA393171333 | MPI | c.223A>C (p.Ile75Leu) c.73A>C (p.Ile25Leu) c.*119A>C (n.*119A>C) c.163A>C (p.Ile55Leu) n.254A>C c.184A>C (p.Ile62Leu) c.187A>C (p.Ile63Leu) n.332A>C c.280A>C (p.Ile94Leu) c.211A>C (p.Ile71Leu) | |
| 15 | g.74891457A>G | CA393171332 | MPI | c.223A>G (p.Ile75Val) c.73A>G (p.Ile25Val) c.*119A>G (n.*119A>G) c.163A>G (p.Ile55Val) n.254A>G c.184A>G (p.Ile62Val) c.187A>G (p.Ile63Val) n.332A>G c.280A>G (p.Ile94Val) c.211A>G (p.Ile71Val) | |
| 15 | g.74891457A>T | CA393171331 | MPI | c.223A>T (p.Ile75Phe) c.73A>T (p.Ile25Phe) c.*119A>T (n.*119A>T) c.163A>T (p.Ile55Phe) n.254A>T c.184A>T (p.Ile62Phe) c.187A>T (p.Ile63Phe) n.332A>T c.280A>T (p.Ile94Phe) c.211A>T (p.Ile71Phe) | |
| 15 | g.74891458T>A | CA393171338 | MPI | c.224T>A (p.Ile75Asn) c.74T>A (p.Ile25Asn) c.*120T>A (n.*120T>A) c.164T>A (p.Ile55Asn) n.255T>A c.185T>A (p.Ile62Asn) c.188T>A (p.Ile63Asn) n.333T>A c.281T>A (p.Ile94Asn) c.212T>A (p.Ile71Asn) | |
| 15 | g.74891458T>C | CA393171340 | MPI | c.224T>C (p.Ile75Thr) c.74T>C (p.Ile25Thr) c.*120T>C (n.*120T>C) c.164T>C (p.Ile55Thr) n.255T>C c.185T>C (p.Ile62Thr) c.188T>C (p.Ile63Thr) n.333T>C c.281T>C (p.Ile94Thr) c.212T>C (p.Ile71Thr) | gnomAD v4 |
| 15 | g.74891458T>G | CA393171342 | MPI | c.224T>G (p.Ile75Ser) c.74T>G (p.Ile25Ser) c.*120T>G (n.*120T>G) c.164T>G (p.Ile55Ser) n.255T>G c.185T>G (p.Ile62Ser) c.188T>G (p.Ile63Ser) n.333T>G c.281T>G (p.Ile94Ser) c.212T>G (p.Ile71Ser) | |
| 15 | g.74891459T>A | CA491220121 | MPI | c.225T>A (p.Ile75=) c.75T>A (p.Ile25=) c.*121T>A (n.*121T>A) c.165T>A (p.Ile55=) n.256T>A c.186T>A (p.Ile62=) c.189T>A (p.Ile63=) n.334T>A c.282T>A (p.Ile94=) c.213T>A (p.Ile71=) | gnomAD v4 |
| 15 | g.74891459T>C | CA491220122 | MPI | c.225T>C (p.Ile75=) c.75T>C (p.Ile25=) c.*121T>C (n.*121T>C) c.165T>C (p.Ile55=) n.256T>C c.186T>C (p.Ile62=) c.189T>C (p.Ile63=) n.334T>C c.282T>C (p.Ile94=) c.213T>C (p.Ile71=) | ClinVar gnomAD v4 |
| 15 | g.74891459T>G | CA393171343 | MPI | c.225T>G (p.Ile75Met) c.75T>G (p.Ile25Met) c.*121T>G (n.*121T>G) c.165T>G (p.Ile55Met) n.256T>G c.186T>G (p.Ile62Met) c.189T>G (p.Ile63Met) n.334T>G c.282T>G (p.Ile94Met) c.213T>G (p.Ile71Met) | |
| 15 | g.74891460G>A | CA393171346 | MPI | c.226G>A (p.Ala76Thr) c.76G>A (p.Ala26Thr) c.*122G>A (n.*122G>A) c.166G>A (p.Ala56Thr) n.257G>A c.187G>A (p.Ala63Thr) c.190G>A (p.Ala64Thr) n.335G>A c.283G>A (p.Ala95Thr) c.214G>A (p.Ala72Thr) | |
| 15 | g.74891460G>C | CA393171348 | MPI | c.226G>C (p.Ala76Pro) c.76G>C (p.Ala26Pro) c.*122G>C (n.*122G>C) c.166G>C (p.Ala56Pro) n.257G>C c.187G>C (p.Ala63Pro) c.190G>C (p.Ala64Pro) n.335G>C c.283G>C (p.Ala95Pro) c.214G>C (p.Ala72Pro) | |
| 15 | g.74891460G= | CA2187895644 | MPI | c.226G= (p.Ala76=) c.76G= (p.Ala26=) c.*122G= (n.*122G=) c.166G= (p.Ala56=) n.257G= c.187G= (p.Ala63=) c.190G= (p.Ala64=) n.335G= c.283G= (p.Ala95=) c.214G= (p.Ala72=) | |
| 15 | g.74891460G>T | CA7662395 | MPI | c.226G>T (p.Ala76Ser) c.76G>T (p.Ala26Ser) c.*122G>T (n.*122G>T) c.166G>T (p.Ala56Ser) n.257G>T c.187G>T (p.Ala63Ser) c.190G>T (p.Ala64Ser) n.335G>T c.283G>T (p.Ala95Ser) c.214G>T (p.Ala72Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74891461C>A | CA393171352 | MPI | c.227C>A (p.Ala76Asp) c.77C>A (p.Ala26Asp) c.*123C>A (n.*123C>A) c.167C>A (p.Ala56Asp) n.258C>A c.188C>A (p.Ala63Asp) c.191C>A (p.Ala64Asp) n.336C>A c.284C>A (p.Ala95Asp) c.215C>A (p.Ala72Asp) | |
| 15 | g.74891461C>G | CA393171354 | MPI | c.227C>G (p.Ala76Gly) c.77C>G (p.Ala26Gly) c.*123C>G (n.*123C>G) c.167C>G (p.Ala56Gly) n.258C>G c.188C>G (p.Ala63Gly) c.191C>G (p.Ala64Gly) n.336C>G c.284C>G (p.Ala95Gly) c.215C>G (p.Ala72Gly) | |
| 15 | g.74891461C>T | CA393171356 | MPI | c.227C>T (p.Ala76Val) c.77C>T (p.Ala26Val) c.*123C>T (n.*123C>T) c.167C>T (p.Ala56Val) n.258C>T c.188C>T (p.Ala63Val) c.191C>T (p.Ala64Val) n.336C>T c.284C>T (p.Ala95Val) c.215C>T (p.Ala72Val) | |
| 15 | g.74891462T>A | CA491220126 | MPI | c.228T>A (p.Ala76=) c.78T>A (p.Ala26=) c.*124T>A (n.*124T>A) c.168T>A (p.Ala56=) n.259T>A c.189T>A (p.Ala63=) c.192T>A (p.Ala64=) n.337T>A c.285T>A (p.Ala95=) c.216T>A (p.Ala72=) | |
| 15 | g.74891462T>C | CA491220125 | MPI | c.228T>C (p.Ala76=) c.78T>C (p.Ala26=) c.*124T>C (n.*124T>C) c.168T>C (p.Ala56=) n.259T>C c.189T>C (p.Ala63=) c.192T>C (p.Ala64=) n.337T>C c.285T>C (p.Ala95=) c.216T>C (p.Ala72=) | |
| 15 | g.74891462T>G | CA491220124 | MPI | c.228T>G (p.Ala76=) c.78T>G (p.Ala26=) c.*124T>G (n.*124T>G) c.168T>G (p.Ala56=) n.259T>G c.189T>G (p.Ala63=) c.192T>G (p.Ala64=) n.337T>G c.285T>G (p.Ala95=) c.216T>G (p.Ala72=) | dbSNP |
| 15 | g.74891462T= | CA2187895647 | MPI | c.228T= (p.Ala76=) c.78T= (p.Ala26=) c.*124T= (n.*124T=) c.168T= (p.Ala56=) n.259T= c.189T= (p.Ala63=) c.192T= (p.Ala64=) n.337T= c.285T= (p.Ala95=) c.216T= (p.Ala72=) | |
| 15 | g.74891463G>A | CA393171359 | MPI | c.229G>A (p.Glu77Lys) c.79G>A (p.Glu27Lys) c.*125G>A (n.*125G>A) c.169G>A (p.Glu57Lys) n.260G>A c.190G>A (p.Glu64Lys) c.193G>A (p.Glu65Lys) n.338G>A c.286G>A (p.Glu96Lys) c.217G>A (p.Glu73Lys) | |
| 15 | g.74891463G>C | CA393171361 | MPI | c.229G>C (p.Glu77Gln) c.79G>C (p.Glu27Gln) c.*125G>C (n.*125G>C) c.169G>C (p.Glu57Gln) n.260G>C c.190G>C (p.Glu64Gln) c.193G>C (p.Glu65Gln) n.338G>C c.286G>C (p.Glu96Gln) c.217G>C (p.Glu73Gln) | dbSNP |
| 15 | g.74891463G= | CA2187895650 | MPI | c.229G= (p.Glu77=) c.79G= (p.Glu27=) c.*125G= (n.*125G=) c.169G= (p.Glu57=) n.260G= c.190G= (p.Glu64=) c.193G= (p.Glu65=) n.338G= c.286G= (p.Glu96=) c.217G= (p.Glu73=) | |
| 15 | g.74891463G>T | CA393171364 | MPI | c.229G>T (p.Glu77Ter) c.79G>T (p.Glu27Ter) c.*125G>T (n.*125G>T) c.169G>T (p.Glu57Ter) n.260G>T c.190G>T (p.Glu64Ter) c.193G>T (p.Glu65Ter) n.338G>T c.286G>T (p.Glu96Ter) c.217G>T (p.Glu73Ter) | |
| 15 | g.74891464A>C | CA393171373 | MPI | c.230A>C (p.Glu77Ala) c.80A>C (p.Glu27Ala) c.*126A>C (n.*126A>C) c.170A>C (p.Glu57Ala) n.261A>C c.191A>C (p.Glu64Ala) c.194A>C (p.Glu65Ala) n.339A>C c.287A>C (p.Glu96Ala) c.218A>C (p.Glu73Ala) | gnomAD v4 |
| 15 | g.74891464A>G | CA393171380 | MPI | c.230A>G (p.Glu77Gly) c.80A>G (p.Glu27Gly) c.*126A>G (n.*126A>G) c.170A>G (p.Glu57Gly) n.261A>G c.191A>G (p.Glu64Gly) c.194A>G (p.Glu65Gly) n.339A>G c.287A>G (p.Glu96Gly) c.218A>G (p.Glu73Gly) | |
| 15 | g.74891464A>T | CA393171369 | MPI | c.230A>T (p.Glu77Val) c.80A>T (p.Glu27Val) c.*126A>T (n.*126A>T) c.170A>T (p.Glu57Val) n.261A>T c.191A>T (p.Glu64Val) c.194A>T (p.Glu65Val) n.339A>T c.287A>T (p.Glu96Val) c.218A>T (p.Glu73Val) | |
| 15 | g.74891465G>A | CA491220127 | MPI | c.231G>A (p.Glu77=) c.81G>A (p.Glu27=) c.*127G>A (n.*127G>A) c.171G>A (p.Glu57=) n.262G>A c.192G>A (p.Glu64=) c.195G>A (p.Glu65=) n.340G>A c.288G>A (p.Glu96=) c.219G>A (p.Glu73=) | ClinVar |
| 15 | g.74891465G>C | CA393171390 | MPI | c.231G>C (p.Glu77Asp) c.81G>C (p.Glu27Asp) c.*127G>C (n.*127G>C) c.171G>C (p.Glu57Asp) n.262G>C c.192G>C (p.Glu64Asp) c.195G>C (p.Glu65Asp) n.340G>C c.288G>C (p.Glu96Asp) c.219G>C (p.Glu73Asp) | |
| 15 | g.74891465G>T | CA393171387 | MPI | c.231G>T (p.Glu77Asp) c.81G>T (p.Glu27Asp) c.*127G>T (n.*127G>T) c.171G>T (p.Glu57Asp) n.262G>T c.192G>T (p.Glu64Asp) c.195G>T (p.Glu65Asp) n.340G>T c.288G>T (p.Glu96Asp) c.219G>T (p.Glu73Asp) | |
| 15 | g.74891466A>C | CA393171394 | MPI | c.232A>C (p.Asn78His) c.82A>C (p.Asn28His) c.*128A>C (n.*128A>C) c.172A>C (p.Asn58His) n.263A>C c.193A>C (p.Asn65His) c.196A>C (p.Asn66His) n.341A>C c.289A>C (p.Asn97His) c.220A>C (p.Asn74His) | |
| 15 | g.74891466A>G | CA393171397 | MPI | c.232A>G (p.Asn78Asp) c.82A>G (p.Asn28Asp) c.*128A>G (n.*128A>G) c.172A>G (p.Asn58Asp) n.263A>G c.193A>G (p.Asn65Asp) c.196A>G (p.Asn66Asp) n.341A>G c.289A>G (p.Asn97Asp) c.220A>G (p.Asn74Asp) | |
| 15 | g.74891466A>T | CA393171401 | MPI | c.232A>T (p.Asn78Tyr) c.82A>T (p.Asn28Tyr) c.*128A>T (n.*128A>T) c.172A>T (p.Asn58Tyr) n.263A>T c.193A>T (p.Asn65Tyr) c.196A>T (p.Asn66Tyr) n.341A>T c.289A>T (p.Asn97Tyr) c.220A>T (p.Asn74Tyr) | |
| 15 | g.74891467A>C | CA393171406 | MPI | c.233A>C (p.Asn78Thr) c.83A>C (p.Asn28Thr) c.*129A>C (n.*129A>C) c.173A>C (p.Asn58Thr) n.264A>C c.194A>C (p.Asn65Thr) c.197A>C (p.Asn66Thr) n.342A>C c.290A>C (p.Asn97Thr) c.221A>C (p.Asn74Thr) | |
| 15 | g.74891467A>G | CA393171409 | MPI | c.233A>G (p.Asn78Ser) c.83A>G (p.Asn28Ser) c.*129A>G (n.*129A>G) c.173A>G (p.Asn58Ser) n.264A>G c.194A>G (p.Asn65Ser) c.197A>G (p.Asn66Ser) n.342A>G c.290A>G (p.Asn97Ser) c.221A>G (p.Asn74Ser) | |
| 15 | g.74891467A>T | CA393171412 | MPI | c.233A>T (p.Asn78Ile) c.83A>T (p.Asn28Ile) c.*129A>T (n.*129A>T) c.173A>T (p.Asn58Ile) n.264A>T c.194A>T (p.Asn65Ile) c.197A>T (p.Asn66Ile) n.342A>T c.290A>T (p.Asn97Ile) c.221A>T (p.Asn74Ile) | |
| 15 | g.74891468C>A | CA7662396 | MPI | c.234C>A (p.Asn78Lys) c.84C>A (p.Asn28Lys) c.*130C>A (n.*130C>A) c.174C>A (p.Asn58Lys) n.265C>A c.195C>A (p.Asn65Lys) c.198C>A (p.Asn66Lys) n.343C>A c.291C>A (p.Asn97Lys) c.222C>A (p.Asn74Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74891468C= | CA2187895655 | MPI | c.234C= (p.Asn78=) c.84C= (p.Asn28=) c.*130C= (n.*130C=) c.174C= (p.Asn58=) n.265C= c.195C= (p.Asn65=) c.198C= (p.Asn66=) n.343C= c.291C= (p.Asn97=) c.222C= (p.Asn74=) | |
| 15 | g.74891468C>G | CA393171420 | MPI | c.234C>G (p.Asn78Lys) c.84C>G (p.Asn28Lys) c.*130C>G (n.*130C>G) c.174C>G (p.Asn58Lys) n.265C>G c.195C>G (p.Asn65Lys) c.198C>G (p.Asn66Lys) n.343C>G c.291C>G (p.Asn97Lys) c.222C>G (p.Asn74Lys) | |
| 15 | g.74891468C>T | CA491220130 | MPI | c.234C>T (p.Asn78=) c.84C>T (p.Asn28=) c.*130C>T (n.*130C>T) c.174C>T (p.Asn58=) n.265C>T c.195C>T (p.Asn65=) c.198C>T (p.Asn66=) n.343C>T c.291C>T (p.Asn97=) c.222C>T (p.Asn74=) | |
| 15 | g.74891469C>A | CA393171424 | MPI | c.235C>A (p.Gln79Lys) c.85C>A (p.Gln29Lys) c.*131C>A (n.*131C>A) c.175C>A (p.Gln59Lys) n.266C>A c.196C>A (p.Gln66Lys) c.199C>A (p.Gln67Lys) n.344C>A c.292C>A (p.Gln98Lys) c.223C>A (p.Gln75Lys) | |
| 15 | g.74891469C>G | CA393171427 | MPI | c.235C>G (p.Gln79Glu) c.85C>G (p.Gln29Glu) c.*131C>G (n.*131C>G) c.175C>G (p.Gln59Glu) n.266C>G c.196C>G (p.Gln66Glu) c.199C>G (p.Gln67Glu) n.344C>G c.292C>G (p.Gln98Glu) c.223C>G (p.Gln75Glu) | gnomAD v4 |
| 15 | g.74891469C>T | CA393171428 | MPI | c.235C>T (p.Gln79Ter) c.85C>T (p.Gln29Ter) c.*131C>T (n.*131C>T) c.175C>T (p.Gln59Ter) n.266C>T c.196C>T (p.Gln66Ter) c.199C>T (p.Gln67Ter) n.344C>T c.292C>T (p.Gln98Ter) c.223C>T (p.Gln75Ter) | |
| 15 | g.74891470A>C | CA393171432 | MPI | c.236A>C (p.Gln79Pro) c.86A>C (p.Gln29Pro) c.*132A>C (n.*132A>C) c.176A>C (p.Gln59Pro) n.267A>C c.197A>C (p.Gln66Pro) c.200A>C (p.Gln67Pro) n.345A>C c.293A>C (p.Gln98Pro) c.224A>C (p.Gln75Pro) | |
| 15 | g.74891470A>G | CA393171431 | MPI | c.236A>G (p.Gln79Arg) c.86A>G (p.Gln29Arg) c.*132A>G (n.*132A>G) c.176A>G (p.Gln59Arg) n.267A>G c.197A>G (p.Gln66Arg) c.200A>G (p.Gln67Arg) n.345A>G c.293A>G (p.Gln98Arg) c.224A>G (p.Gln75Arg) | gnomAD v4 |
| 15 | g.74891470A>T | CA393171430 | MPI | c.236A>T (p.Gln79Leu) c.86A>T (p.Gln29Leu) c.*132A>T (n.*132A>T) c.176A>T (p.Gln59Leu) n.267A>T c.197A>T (p.Gln66Leu) c.200A>T (p.Gln67Leu) n.345A>T c.293A>T (p.Gln98Leu) c.224A>T (p.Gln75Leu) | |
| 15 | g.74891471G>A | CA491220132 | MPI | c.237G>A (p.Gln79=) c.87G>A (p.Gln29=) c.*133G>A (n.*133G>A) c.177G>A (p.Gln59=) n.268G>A c.198G>A (p.Gln66=) c.201G>A (p.Gln67=) n.346G>A c.294G>A (p.Gln98=) c.225G>A (p.Gln75=) | |
| 15 | g.74891471G>C | CA393171434 | MPI | c.237G>C (p.Gln79His) c.87G>C (p.Gln29His) c.*133G>C (n.*133G>C) c.177G>C (p.Gln59His) n.268G>C c.198G>C (p.Gln66His) c.201G>C (p.Gln67His) n.346G>C c.294G>C (p.Gln98His) c.225G>C (p.Gln75His) | |
| 15 | g.74891471G>T | CA393171437 | MPI | c.237G>T (p.Gln79His) c.87G>T (p.Gln29His) c.*133G>T (n.*133G>T) c.177G>T (p.Gln59His) n.268G>T c.198G>T (p.Gln66His) c.201G>T (p.Gln67His) n.346G>T c.294G>T (p.Gln98His) c.225G>T (p.Gln75His) | |
| 15 | g.74891472G>A | CA393171443 | MPI | c.238G>A (p.Asp80Asn) c.88G>A (p.Asp30Asn) c.*134G>A (n.*134G>A) c.178G>A (p.Asp60Asn) n.269G>A c.199G>A (p.Asp67Asn) c.202G>A (p.Asp68Asn) n.347G>A c.295G>A (p.Asp99Asn) c.226G>A (p.Asp76Asn) | ClinVar dbSNP gnomAD v4 |
| 15 | g.74891472G>C | CA393171447 | MPI | c.238G>C (p.Asp80His) c.88G>C (p.Asp30His) c.*134G>C (n.*134G>C) c.178G>C (p.Asp60His) n.269G>C c.199G>C (p.Asp67His) c.202G>C (p.Asp68His) n.347G>C c.295G>C (p.Asp99His) c.226G>C (p.Asp76His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74891472G= | CA2187895657 | MPI | c.238G= (p.Asp80=) c.88G= (p.Asp30=) c.*134G= (n.*134G=) c.178G= (p.Asp60=) n.269G= c.199G= (p.Asp67=) c.202G= (p.Asp68=) n.347G= c.295G= (p.Asp99=) c.226G= (p.Asp76=) | |
| 15 | g.74891472G>T | CA393171450 | MPI | c.238G>T (p.Asp80Tyr) c.88G>T (p.Asp30Tyr) c.*134G>T (n.*134G>T) c.178G>T (p.Asp60Tyr) n.269G>T c.199G>T (p.Asp67Tyr) c.202G>T (p.Asp68Tyr) n.347G>T c.295G>T (p.Asp99Tyr) c.226G>T (p.Asp76Tyr) | |
| 15 | g.74891473A>C | CA393171455 | MPI | c.239A>C (p.Asp80Ala) c.89A>C (p.Asp30Ala) c.*135A>C (n.*135A>C) c.179A>C (p.Asp60Ala) n.270A>C c.200A>C (p.Asp67Ala) c.203A>C (p.Asp68Ala) n.348A>C c.296A>C (p.Asp99Ala) c.227A>C (p.Asp76Ala) | |
| 15 | g.74891473A>G | CA393171458 | MPI | c.239A>G (p.Asp80Gly) c.89A>G (p.Asp30Gly) c.*135A>G (n.*135A>G) c.179A>G (p.Asp60Gly) n.270A>G c.200A>G (p.Asp67Gly) c.203A>G (p.Asp68Gly) n.348A>G c.296A>G (p.Asp99Gly) c.227A>G (p.Asp76Gly) | gnomAD v4 |
| 15 | g.74891473A>T | CA393171461 | MPI | c.239A>T (p.Asp80Val) c.89A>T (p.Asp30Val) c.*135A>T (n.*135A>T) c.179A>T (p.Asp60Val) n.270A>T c.200A>T (p.Asp67Val) c.203A>T (p.Asp68Val) n.348A>T c.296A>T (p.Asp99Val) c.227A>T (p.Asp76Val) | |
| 15 | g.74891474C>A | CA7662397 | MPI | c.240C>A (p.Asp80Glu) c.90C>A (p.Asp30Glu) c.*136C>A (n.*136C>A) c.180C>A (p.Asp60Glu) n.271C>A c.201C>A (p.Asp67Glu) c.204C>A (p.Asp68Glu) n.349C>A c.297C>A (p.Asp99Glu) c.228C>A (p.Asp76Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74891474C= | CA2187895659 | MPI | c.240C= (p.Asp80=) c.90C= (p.Asp30=) c.*136C= (n.*136C=) c.180C= (p.Asp60=) n.271C= c.201C= (p.Asp67=) c.204C= (p.Asp68=) n.349C= c.297C= (p.Asp99=) c.228C= (p.Asp76=) | |
| 15 | g.74891474C>G | CA393171469 | MPI | c.240C>G (p.Asp80Glu) c.90C>G (p.Asp30Glu) c.*136C>G (n.*136C>G) c.180C>G (p.Asp60Glu) n.271C>G c.201C>G (p.Asp67Glu) c.204C>G (p.Asp68Glu) n.349C>G c.297C>G (p.Asp99Glu) c.228C>G (p.Asp76Glu) | gnomAD v4 |
| 15 | g.74891474C>T | CA491220136 | MPI | c.240C>T (p.Asp80=) c.90C>T (p.Asp30=) c.*136C>T (n.*136C>T) c.180C>T (p.Asp60=) n.271C>T c.201C>T (p.Asp67=) c.204C>T (p.Asp68=) n.349C>T c.297C>T (p.Asp99=) c.228C>T (p.Asp76=) | |
| 15 | g.74891475A>C | CA393171472 | MPI | c.241A>C (p.Ser81Arg) c.91A>C (p.Ser31Arg) c.*137A>C (n.*137A>C) c.181A>C (p.Ser61Arg) n.272A>C c.202A>C (p.Ser68Arg) c.205A>C (p.Ser69Arg) n.350A>C c.298A>C (p.Ser100Arg) c.229A>C (p.Ser77Arg) | |
| 15 | g.74891475A>G | CA393171476 | MPI | c.241A>G (p.Ser81Gly) c.91A>G (p.Ser31Gly) c.*137A>G (n.*137A>G) c.181A>G (p.Ser61Gly) n.272A>G c.202A>G (p.Ser68Gly) c.205A>G (p.Ser69Gly) n.350A>G c.298A>G (p.Ser100Gly) c.229A>G (p.Ser77Gly) | |
| 15 | g.74891475A>T | CA393171479 | MPI | c.241A>T (p.Ser81Cys) c.91A>T (p.Ser31Cys) c.*137A>T (n.*137A>T) c.181A>T (p.Ser61Cys) n.272A>T c.202A>T (p.Ser68Cys) c.205A>T (p.Ser69Cys) n.350A>T c.298A>T (p.Ser100Cys) c.229A>T (p.Ser77Cys) | |
| 15 | g.74891476G>A | CA393171490 | MPI | c.242G>A (p.Ser81Asn) c.92G>A (p.Ser31Asn) c.*138G>A (n.*138G>A) c.182G>A (p.Ser61Asn) n.273G>A c.203G>A (p.Ser68Asn) c.206G>A (p.Ser69Asn) n.351G>A c.299G>A (p.Ser100Asn) c.230G>A (p.Ser77Asn) | |
| 15 | g.74891476G>C | CA393171488 | MPI | c.242G>C (p.Ser81Thr) c.92G>C (p.Ser31Thr) c.*138G>C (n.*138G>C) c.182G>C (p.Ser61Thr) n.273G>C c.203G>C (p.Ser68Thr) c.206G>C (p.Ser69Thr) n.351G>C c.299G>C (p.Ser100Thr) c.230G>C (p.Ser77Thr) | |
| 15 | g.74891476G>T | CA393171486 | MPI | c.242G>T (p.Ser81Ile) c.92G>T (p.Ser31Ile) c.*138G>T (n.*138G>T) c.182G>T (p.Ser61Ile) n.273G>T c.203G>T (p.Ser68Ile) c.206G>T (p.Ser69Ile) n.351G>T c.299G>T (p.Ser100Ile) c.230G>T (p.Ser77Ile) | |
| 15 | g.74891477C>A | CA393171500 | MPI | c.243C>A (p.Ser81Arg) c.93C>A (p.Ser31Arg) c.*139C>A (n.*139C>A) c.183C>A (p.Ser61Arg) n.274C>A c.204C>A (p.Ser68Arg) c.207C>A (p.Ser69Arg) n.352C>A c.300C>A (p.Ser100Arg) c.231C>A (p.Ser77Arg) | |
| 15 | g.74891477C>G | CA393171496 | MPI | c.243C>G (p.Ser81Arg) c.93C>G (p.Ser31Arg) c.*139C>G (n.*139C>G) c.183C>G (p.Ser61Arg) n.274C>G c.204C>G (p.Ser68Arg) c.207C>G (p.Ser69Arg) n.352C>G c.300C>G (p.Ser100Arg) c.231C>G (p.Ser77Arg) | |
| 15 | g.74891477C>T | CA491220139 | MPI | c.243C>T (p.Ser81=) c.93C>T (p.Ser31=) c.*139C>T (n.*139C>T) c.183C>T (p.Ser61=) n.274C>T c.204C>T (p.Ser68=) c.207C>T (p.Ser69=) n.352C>T c.300C>T (p.Ser100=) c.231C>T (p.Ser77=) | |
| 15 | g.74891478T>A | CA393171505 | MPI | c.244T>A (p.Leu82Met) c.94T>A (p.Leu32Met) c.*140T>A (n.*140T>A) c.184T>A (p.Leu62Met) n.275T>A c.205T>A (p.Leu69Met) c.208T>A (p.Leu70Met) n.353T>A c.301T>A (p.Leu101Met) c.232T>A (p.Leu78Met) | |
| 15 | g.74891478T>C | CA491220140 | MPI | c.244T>C (p.Leu82=) c.94T>C (p.Leu32=) c.*140T>C (n.*140T>C) c.184T>C (p.Leu62=) n.275T>C c.205T>C (p.Leu69=) c.208T>C (p.Leu70=) n.353T>C c.301T>C (p.Leu101=) c.232T>C (p.Leu78=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74891478T>G | CA393171506 | MPI | c.244T>G (p.Leu82Val) c.94T>G (p.Leu32Val) c.*140T>G (n.*140T>G) c.184T>G (p.Leu62Val) n.275T>G c.205T>G (p.Leu69Val) c.208T>G (p.Leu70Val) n.353T>G c.301T>G (p.Leu101Val) c.232T>G (p.Leu78Val) | |
| 15 | g.74891478T= | CA2187895661 | MPI | c.244T= (p.Leu82=) c.94T= (p.Leu32=) c.*140T= (n.*140T=) c.184T= (p.Leu62=) n.275T= c.205T= (p.Leu69=) c.208T= (p.Leu70=) n.353T= c.301T= (p.Leu101=) c.232T= (p.Leu78=) | |
| 15 | g.74891479T>A | CA393171511 | MPI | c.245T>A (p.Leu82Ter) c.95T>A (p.Leu32Ter) c.*141T>A (n.*141T>A) c.185T>A (p.Leu62Ter) n.276T>A c.206T>A (p.Leu69Ter) c.209T>A (p.Leu70Ter) n.354T>A c.302T>A (p.Leu101Ter) c.233T>A (p.Leu78Ter) | |
| 15 | g.74891479T>C | CA393171513 | MPI | c.245T>C (p.Leu82Ser) c.95T>C (p.Leu32Ser) c.*141T>C (n.*141T>C) c.185T>C (p.Leu62Ser) n.276T>C c.206T>C (p.Leu69Ser) c.209T>C (p.Leu70Ser) n.354T>C c.302T>C (p.Leu101Ser) c.233T>C (p.Leu78Ser) | gnomAD v4 |
| 15 | g.74891479T>G | CA393171516 | MPI | c.245T>G (p.Leu82Trp) c.95T>G (p.Leu32Trp) c.*141T>G (n.*141T>G) c.185T>G (p.Leu62Trp) n.276T>G c.206T>G (p.Leu69Trp) c.209T>G (p.Leu70Trp) n.354T>G c.302T>G (p.Leu101Trp) c.233T>G (p.Leu78Trp) | |
| 15 | g.74891480G>A | CA491220142 | MPI | c.246G>A (p.Leu82=) c.96G>A (p.Leu32=) c.*142G>A (n.*142G>A) c.186G>A (p.Leu62=) n.277G>A c.207G>A (p.Leu69=) c.210G>A (p.Leu70=) n.355G>A c.303G>A (p.Leu101=) c.234G>A (p.Leu78=) | ClinVar |
| 15 | g.74891480G>C | CA393171520 | MPI | c.246G>C (p.Leu82Phe) c.96G>C (p.Leu32Phe) c.*142G>C (n.*142G>C) c.186G>C (p.Leu62Phe) n.277G>C c.207G>C (p.Leu69Phe) c.210G>C (p.Leu70Phe) n.355G>C c.303G>C (p.Leu101Phe) c.234G>C (p.Leu78Phe) | |
| 15 | g.74891480G>T | CA393171524 | MPI | c.246G>T (p.Leu82Phe) c.96G>T (p.Leu32Phe) c.*142G>T (n.*142G>T) c.186G>T (p.Leu62Phe) n.277G>T c.207G>T (p.Leu69Phe) c.210G>T (p.Leu70Phe) n.355G>T c.303G>T (p.Leu101Phe) c.234G>T (p.Leu78Phe) | gnomAD v4 |
| 15 | g.74891481_74891482del | CA2629528833 | MPI | c.247_248del (p.Gly83LeufsTer8) c.97_98del (p.Gly33LeufsTer8) c.*143_*144del (n.*143_*144del) c.187_188del (p.Gly63LeufsTer8) c.247_248del (p.Gly83LeufsTer?) n.278_279del c.208_209del (p.Gly70LeufsTer8) c.211_212del (p.Gly71LeufsTer8) n.356_357del c.304_305del (p.Gly102LeufsTer8) c.235_236del (p.Gly79LeufsTer8) | gnomAD v4 |
| 15 | g.74891481G>A | CA393171527 | MPI | c.247G>A (p.Gly83Ser) c.97G>A (p.Gly33Ser) c.*143G>A (n.*143G>A) c.187G>A (p.Gly63Ser) n.278G>A c.208G>A (p.Gly70Ser) c.211G>A (p.Gly71Ser) n.356G>A c.304G>A (p.Gly102Ser) c.235G>A (p.Gly79Ser) | gnomAD v4 |
| 15 | g.74891481G>C | CA393171529 | MPI | c.247G>C (p.Gly83Arg) c.97G>C (p.Gly33Arg) c.*143G>C (n.*143G>C) c.187G>C (p.Gly63Arg) n.278G>C c.208G>C (p.Gly70Arg) c.211G>C (p.Gly71Arg) n.356G>C c.304G>C (p.Gly102Arg) c.235G>C (p.Gly79Arg) | |
| 15 | g.74891481G>T | CA393171533 | MPI | c.247G>T (p.Gly83Cys) c.97G>T (p.Gly33Cys) c.*143G>T (n.*143G>T) c.187G>T (p.Gly63Cys) n.278G>T c.208G>T (p.Gly70Cys) c.211G>T (p.Gly71Cys) n.356G>T c.304G>T (p.Gly102Cys) c.235G>T (p.Gly79Cys) | |
| 15 | g.74891482G>A | CA393171538 | MPI | c.248G>A (p.Gly83Asp) c.98G>A (p.Gly33Asp) c.*144G>A (n.*144G>A) c.188G>A (p.Gly63Asp) n.279G>A c.209G>A (p.Gly70Asp) c.212G>A (p.Gly71Asp) n.357G>A c.305G>A (p.Gly102Asp) c.236G>A (p.Gly79Asp) | |
| 15 | g.74891482G>C | CA393171541 | MPI | c.248G>C (p.Gly83Ala) c.98G>C (p.Gly33Ala) c.*144G>C (n.*144G>C) c.188G>C (p.Gly63Ala) n.279G>C c.209G>C (p.Gly70Ala) c.212G>C (p.Gly71Ala) n.357G>C c.305G>C (p.Gly102Ala) c.236G>C (p.Gly79Ala) | |
| 15 | g.74891482G>T | CA393171546 | MPI | c.248G>T (p.Gly83Val) c.98G>T (p.Gly33Val) c.*144G>T (n.*144G>T) c.188G>T (p.Gly63Val) n.279G>T c.209G>T (p.Gly70Val) c.212G>T (p.Gly71Val) n.357G>T c.305G>T (p.Gly102Val) c.236G>T (p.Gly79Val) | gnomAD v4 |
| 15 | g.74891483C>A | CA491220146 | MPI | c.249C>A (p.Gly83=) c.99C>A (p.Gly33=) c.*145C>A (n.*145C>A) c.189C>A (p.Gly63=) n.280C>A c.210C>A (p.Gly70=) c.213C>A (p.Gly71=) n.358C>A c.306C>A (p.Gly102=) c.237C>A (p.Gly79=) | ClinVar dbSNP |
| 15 | g.74891483C= | CA2187895663 | MPI | c.249C= (p.Gly83=) c.99C= (p.Gly33=) c.*145C= (n.*145C=) c.189C= (p.Gly63=) n.280C= c.210C= (p.Gly70=) c.213C= (p.Gly71=) n.358C= c.306C= (p.Gly102=) c.237C= (p.Gly79=) | |
| 15 | g.74891483C>G | CA491220147 | MPI | c.249C>G (p.Gly83=) c.99C>G (p.Gly33=) c.*145C>G (n.*145C>G) c.189C>G (p.Gly63=) n.280C>G c.210C>G (p.Gly70=) c.213C>G (p.Gly71=) n.358C>G c.306C>G (p.Gly102=) c.237C>G (p.Gly79=) | |
| 15 | g.74891483C>T | CA272822396 | MPI | c.249C>T (p.Gly83=) c.99C>T (p.Gly33=) c.*145C>T (n.*145C>T) c.189C>T (p.Gly63=) n.280C>T c.210C>T (p.Gly70=) c.213C>T (p.Gly71=) n.358C>T c.306C>T (p.Gly102=) c.237C>T (p.Gly79=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.74891484T>A | CA393171551 | MPI | c.250T>A (p.Ser84Thr) c.100T>A (p.Ser34Thr) c.*146T>A (n.*146T>A) c.190T>A (p.Ser64Thr) n.281T>A c.211T>A (p.Ser71Thr) c.214T>A (p.Ser72Thr) n.359T>A c.307T>A (p.Ser103Thr) c.238T>A (p.Ser80Thr) | |
| 15 | g.74891484T>C | CA393171553 | MPI | c.250T>C (p.Ser84Pro) c.100T>C (p.Ser34Pro) c.*146T>C (n.*146T>C) c.190T>C (p.Ser64Pro) n.281T>C c.211T>C (p.Ser71Pro) c.214T>C (p.Ser72Pro) n.359T>C c.307T>C (p.Ser103Pro) c.238T>C (p.Ser80Pro) | gnomAD v4 |
| 15 | g.74891484T>G | CA393171556 | MPI | c.250T>G (p.Ser84Ala) c.100T>G (p.Ser34Ala) c.*146T>G (n.*146T>G) c.190T>G (p.Ser64Ala) n.281T>G c.211T>G (p.Ser71Ala) c.214T>G (p.Ser72Ala) n.359T>G c.307T>G (p.Ser103Ala) c.238T>G (p.Ser80Ala) | |
| 15 | g.74891485C>A | CA393171560 | MPI | c.251C>A (p.Ser84Ter) c.101C>A (p.Ser34Ter) c.*147C>A (n.*147C>A) c.191C>A (p.Ser64Ter) n.282C>A c.212C>A (p.Ser71Ter) c.215C>A (p.Ser72Ter) n.360C>A c.308C>A (p.Ser103Ter) c.239C>A (p.Ser80Ter) | ClinVar |
| 15 | g.74891485C= | CA2187895667 | MPI | c.251C= (p.Ser84=) c.101C= (p.Ser34=) c.*147C= (n.*147C=) c.191C= (p.Ser64=) n.282C= c.212C= (p.Ser71=) c.215C= (p.Ser72=) n.360C= c.308C= (p.Ser103=) c.239C= (p.Ser80=) | |
| 15 | g.74891485C>G | CA272822398 | MPI | c.251C>G (p.Ser84Ter) c.101C>G (p.Ser34Ter) c.*147C>G (n.*147C>G) c.191C>G (p.Ser64Ter) n.282C>G c.212C>G (p.Ser71Ter) c.215C>G (p.Ser72Ter) n.360C>G c.308C>G (p.Ser103Ter) c.239C>G (p.Ser80Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74891485C>T | CA393171564 | MPI | c.251C>T (p.Ser84Leu) c.101C>T (p.Ser34Leu) c.*147C>T (n.*147C>T) c.191C>T (p.Ser64Leu) n.282C>T c.212C>T (p.Ser71Leu) c.215C>T (p.Ser72Leu) n.360C>T c.308C>T (p.Ser103Leu) c.239C>T (p.Ser80Leu) | |
| 15 | g.74891486A>C | CA491220148 | MPI | c.252A>C (p.Ser84=) c.102A>C (p.Ser34=) c.*148A>C (n.*148A>C) c.192A>C (p.Ser64=) n.283A>C c.213A>C (p.Ser71=) c.216A>C (p.Ser72=) n.361A>C c.309A>C (p.Ser103=) c.240A>C (p.Ser80=) | |
| 15 | g.74891486A>G | CA491220150 | MPI | c.252A>G (p.Ser84=) c.102A>G (p.Ser34=) c.*148A>G (n.*148A>G) c.192A>G (p.Ser64=) n.283A>G c.213A>G (p.Ser71=) c.216A>G (p.Ser72=) n.361A>G c.309A>G (p.Ser103=) c.240A>G (p.Ser80=) | |
| 15 | g.74891486A>T | CA491220151 | MPI | c.252A>T (p.Ser84=) c.102A>T (p.Ser34=) c.*148A>T (n.*148A>T) c.192A>T (p.Ser64=) n.283A>T c.213A>T (p.Ser71=) c.216A>T (p.Ser72=) n.361A>T c.309A>T (p.Ser103=) c.240A>T (p.Ser80=) | |
| 15 | g.74891488dup | CA2629528843 | MPI | c.254dup (p.Val86GlyfsTer6) c.104dup (p.Val36GlyfsTer6) c.*150dup (n.*150dup) c.194dup (p.Val66GlyfsTer6) c.254dup (p.Val86GlyfsTer?) n.285dup c.215dup (p.Val73GlyfsTer6) c.218dup (p.Val74GlyfsTer6) n.363dup c.254dup (p.Glu86GlyfsTer?) c.311dup (p.Val105GlyfsTer6) c.242dup (p.Val82GlyfsTer6) | gnomAD v4 |
| 15 | g.74891487A>C | CA393171568 | MPI | c.253A>C (p.Lys85Gln) c.103A>C (p.Lys35Gln) c.*149A>C (n.*149A>C) c.193A>C (p.Lys65Gln) n.284A>C c.214A>C (p.Lys72Gln) c.217A>C (p.Lys73Gln) n.362A>C c.310A>C (p.Lys104Gln) c.241A>C (p.Lys81Gln) | |
| 15 | g.74891487A>G | CA393171571 | MPI | c.253A>G (p.Lys85Glu) c.103A>G (p.Lys35Glu) c.*149A>G (n.*149A>G) c.193A>G (p.Lys65Glu) n.284A>G c.214A>G (p.Lys72Glu) c.217A>G (p.Lys73Glu) n.362A>G c.310A>G (p.Lys104Glu) c.241A>G (p.Lys81Glu) | |
| 15 | g.74891487A>T | CA393171574 | MPI | c.253A>T (p.Lys85Ter) c.103A>T (p.Lys35Ter) c.*149A>T (n.*149A>T) c.193A>T (p.Lys65Ter) n.284A>T c.214A>T (p.Lys72Ter) c.217A>T (p.Lys73Ter) n.362A>T c.310A>T (p.Lys104Ter) c.241A>T (p.Lys81Ter) | gnomAD v4 |
| 15 | g.74891488A>C | CA393171578 | MPI | c.254A>C (p.Lys85Thr) c.104A>C (p.Lys35Thr) c.*150A>C (n.*150A>C) c.194A>C (p.Lys65Thr) n.285A>C c.215A>C (p.Lys72Thr) c.218A>C (p.Lys73Thr) n.363A>C c.311A>C (p.Lys104Thr) c.242A>C (p.Lys81Thr) | |
| 15 | g.74891488A>G | CA393171582 | MPI | c.254A>G (p.Lys85Arg) c.104A>G (p.Lys35Arg) c.*150A>G (n.*150A>G) c.194A>G (p.Lys65Arg) n.285A>G c.215A>G (p.Lys72Arg) c.218A>G (p.Lys73Arg) n.363A>G c.311A>G (p.Lys104Arg) c.242A>G (p.Lys81Arg) | |
| 15 | g.74891488A>T | CA393171585 | MPI | c.254A>T (p.Lys85Met) c.104A>T (p.Lys35Met) c.*150A>T (n.*150A>T) c.194A>T (p.Lys65Met) n.285A>T c.215A>T (p.Lys72Met) c.218A>T (p.Lys73Met) n.363A>T c.311A>T (p.Lys104Met) c.242A>T (p.Lys81Met) | |
| 15 | g.74891489G>A | CA491220152 | MPI | c.255G>A (p.Lys85=) c.105G>A (p.Lys35=) c.*151G>A (n.*151G>A) c.195G>A (p.Lys65=) n.286G>A c.216G>A (p.Lys72=) c.219G>A (p.Lys73=) n.364G>A c.312G>A (p.Lys104=) c.243G>A (p.Lys81=) | |
| 15 | g.74891489G>C | CA393171587 | MPI | c.255G>C (p.Lys85Asn) c.105G>C (p.Lys35Asn) c.*151G>C (n.*151G>C) c.195G>C (p.Lys65Asn) n.286G>C c.216G>C (p.Lys72Asn) c.219G>C (p.Lys73Asn) n.364G>C c.312G>C (p.Lys104Asn) c.243G>C (p.Lys81Asn) | |
| 15 | g.74891489G>T | CA393171591 | MPI | c.255G>T (p.Lys85Asn) c.105G>T (p.Lys35Asn) c.*151G>T (n.*151G>T) c.195G>T (p.Lys65Asn) n.286G>T c.216G>T (p.Lys72Asn) c.219G>T (p.Lys73Asn) n.364G>T c.312G>T (p.Lys104Asn) c.243G>T (p.Lys81Asn) | |
| 15 | g.74891490G>A | CA7662398 | MPI | c.256G>A (p.Val86Ile) c.106G>A (p.Val36Ile) c.*152G>A (n.*152G>A) c.196G>A (p.Val66Ile) c.255+1G>A (n.255+1G>A) n.287G>A c.217G>A (p.Val73Ile) c.220G>A (p.Val74Ile) n.365G>A c.313G>A (p.Val105Ile) c.244G>A (p.Val82Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74891490G>C | CA393171598 | MPI | c.256G>C (p.Val86Leu) c.106G>C (p.Val36Leu) c.*152G>C (n.*152G>C) c.196G>C (p.Val66Leu) c.255+1G>C (n.255+1G>C) n.287G>C c.217G>C (p.Val73Leu) c.220G>C (p.Val74Leu) n.365G>C c.313G>C (p.Val105Leu) c.244G>C (p.Val82Leu) | |
| 15 | g.74891490G= | CA2187895669 | MPI | c.256G= (p.Val86=) c.106G= (p.Val36=) c.*152G= (n.*152G=) c.196G= (p.Val66=) c.255+1G= (n.255+1G=) n.287G= c.217G= (p.Val73=) c.220G= (p.Val74=) n.365G= c.313G= (p.Val105=) c.244G= (p.Val82=) | |
| 15 | g.74891490G>T | CA393171595 | MPI | c.256G>T (p.Val86Phe) c.106G>T (p.Val36Phe) c.*152G>T (n.*152G>T) c.196G>T (p.Val66Phe) c.255+1G>T (n.255+1G>T) n.287G>T c.217G>T (p.Val73Phe) c.220G>T (p.Val74Phe) n.365G>T c.313G>T (p.Val105Phe) c.244G>T (p.Val82Phe) | |
| 15 | g.74891491T>A | CA393171599 | MPI | c.257T>A (p.Val86Asp) c.107T>A (p.Val36Asp) c.*153T>A (n.*153T>A) c.197T>A (p.Val66Asp) c.255+2T>A (n.255+2T>A) n.288T>A c.218T>A (p.Val73Asp) c.221T>A (p.Val74Asp) n.366T>A c.314T>A (p.Val105Asp) c.245T>A (p.Val82Asp) | |
| 15 | g.74891491T>C | CA393171603 | MPI | c.257T>C (p.Val86Ala) c.107T>C (p.Val36Ala) c.*153T>C (n.*153T>C) c.197T>C (p.Val66Ala) c.255+2T>C (n.255+2T>C) n.288T>C c.218T>C (p.Val73Ala) c.221T>C (p.Val74Ala) n.366T>C c.314T>C (p.Val105Ala) c.245T>C (p.Val82Ala) | |
| 15 | g.74891491T>G | CA393171600 | MPI | c.257T>G (p.Val86Gly) c.107T>G (p.Val36Gly) c.*153T>G (n.*153T>G) c.197T>G (p.Val66Gly) c.255+2T>G (n.255+2T>G) n.288T>G c.218T>G (p.Val73Gly) c.221T>G (p.Val74Gly) n.366T>G c.314T>G (p.Val105Gly) c.245T>G (p.Val82Gly) | |
| 15 | g.74891492C>A | CA491220156 | MPI | c.258C>A (p.Val86=) c.108C>A (p.Val36=) c.*154C>A (n.*154C>A) c.198C>A (p.Val66=) c.255+3C>A (n.255+3C>A) n.289C>A c.219C>A (p.Val73=) c.222C>A (p.Val74=) n.367C>A c.315C>A (p.Val105=) c.246C>A (p.Val82=) | |
| 15 | g.74891492C>G | CA491220157 | MPI | c.258C>G (p.Val86=) c.108C>G (p.Val36=) c.*154C>G (n.*154C>G) c.198C>G (p.Val66=) c.255+3C>G (n.255+3C>G) n.289C>G c.219C>G (p.Val73=) c.222C>G (p.Val74=) n.367C>G c.315C>G (p.Val105=) c.246C>G (p.Val82=) | |
| 15 | g.74891492C>T | CA491220158 | MPI | c.258C>T (p.Val86=) c.108C>T (p.Val36=) c.*154C>T (n.*154C>T) c.198C>T (p.Val66=) c.255+3C>T (n.255+3C>T) n.289C>T c.219C>T (p.Val73=) c.222C>T (p.Val74=) n.367C>T c.315C>T (p.Val105=) c.246C>T (p.Val82=) | ClinVar dbSNP |
| 15 | g.74891493A>C | CA393171610 | MPI | c.259A>C (p.Lys87Gln) c.109A>C (p.Lys37Gln) c.*155A>C (n.*155A>C) c.199A>C (p.Lys67Gln) c.255+4A>C (n.255+4A>C) n.290A>C c.220A>C (p.Lys74Gln) c.223A>C (p.Lys75Gln) n.368A>C c.316A>C (p.Lys106Gln) c.247A>C (p.Lys83Gln) | |
| 15 | g.74891493A>G | CA393171613 | MPI | c.259A>G (p.Lys87Glu) c.109A>G (p.Lys37Glu) c.*155A>G (n.*155A>G) c.199A>G (p.Lys67Glu) c.255+4A>G (n.255+4A>G) n.290A>G c.220A>G (p.Lys74Glu) c.223A>G (p.Lys75Glu) n.368A>G c.316A>G (p.Lys106Glu) c.247A>G (p.Lys83Glu) | |
| 15 | g.74891493A>T | CA393171617 | MPI | c.259A>T (p.Lys87Ter) c.109A>T (p.Lys37Ter) c.*155A>T (n.*155A>T) c.199A>T (p.Lys67Ter) c.255+4A>T (n.255+4A>T) n.290A>T c.220A>T (p.Lys74Ter) c.223A>T (p.Lys75Ter) n.368A>T c.316A>T (p.Lys106Ter) c.247A>T (p.Lys83Ter) | |
| 15 | g.74891493_74891495del | CA2731161814 | MPI | c.259_261del (p.Lys87del) c.109_111del (p.Lys37del) c.*155_*157del (n.*155_*157del) c.199_201del (p.Lys67del) c.255+4_255+6del (n.255+4_255+6del) n.290_292del c.220_222del (p.Lys74del) c.223_225del (p.Lys75del) n.368_370del c.316_318del (p.Lys106del) c.247_249del (p.Lys83del) | dbSNP |
| 15 | g.74891494A>C | CA393171620 | MPI | c.260A>C (p.Lys87Thr) c.110A>C (p.Lys37Thr) c.*156A>C (n.*156A>C) c.200A>C (p.Lys67Thr) c.255+5A>C (n.255+5A>C) n.291A>C c.221A>C (p.Lys74Thr) c.224A>C (p.Lys75Thr) n.369A>C c.317A>C (p.Lys106Thr) c.248A>C (p.Lys83Thr) | |
| 15 | g.74891494A>G | CA393171622 | MPI | c.260A>G (p.Lys87Arg) c.110A>G (p.Lys37Arg) c.*156A>G (n.*156A>G) c.200A>G (p.Lys67Arg) c.255+5A>G (n.255+5A>G) n.291A>G c.221A>G (p.Lys74Arg) c.224A>G (p.Lys75Arg) n.369A>G c.317A>G (p.Lys106Arg) c.248A>G (p.Lys83Arg) | |
| 15 | g.74891494A>T | CA393171625 | MPI | c.260A>T (p.Lys87Met) c.110A>T (p.Lys37Met) c.*156A>T (n.*156A>T) c.200A>T (p.Lys67Met) c.255+5A>T (n.255+5A>T) n.291A>T c.221A>T (p.Lys74Met) c.224A>T (p.Lys75Met) n.369A>T c.317A>T (p.Lys106Met) c.248A>T (p.Lys83Met) | |
| 15 | g.74891495G>A | CA491220160 | MPI | c.261G>A (p.Lys87=) c.111G>A (p.Lys37=) c.*157G>A (n.*157G>A) c.201G>A (p.Lys67=) c.255+6G>A (n.255+6G>A) n.292G>A c.222G>A (p.Lys74=) c.225G>A (p.Lys75=) n.370G>A c.318G>A (p.Lys106=) c.249G>A (p.Lys83=) | |
| 15 | g.74891495G>C | CA393171627 | MPI | c.261G>C (p.Lys87Asn) c.111G>C (p.Lys37Asn) c.*157G>C (n.*157G>C) c.201G>C (p.Lys67Asn) c.255+6G>C (n.255+6G>C) n.292G>C c.222G>C (p.Lys74Asn) c.225G>C (p.Lys75Asn) n.370G>C c.318G>C (p.Lys106Asn) c.249G>C (p.Lys83Asn) | |
| 15 | g.74891495G>T | CA393171629 | MPI | c.261G>T (p.Lys87Asn) c.111G>T (p.Lys37Asn) c.*157G>T (n.*157G>T) c.201G>T (p.Lys67Asn) c.255+6G>T (n.255+6G>T) n.292G>T c.222G>T (p.Lys74Asn) c.225G>T (p.Lys75Asn) n.370G>T c.318G>T (p.Lys106Asn) c.249G>T (p.Lys83Asn) | |
| 15 | g.74891496G>A | CA393171634 | MPI | c.262G>A (p.Asp88Asn) c.112G>A (p.Asp38Asn) c.*158G>A (n.*158G>A) c.202G>A (p.Asp68Asn) c.255+7G>A (n.255+7G>A) n.293G>A c.223G>A (p.Asp75Asn) c.226G>A (p.Asp76Asn) n.371G>A c.319G>A (p.Asp107Asn) c.250G>A (p.Asp84Asn) | dbSNP |
| 15 | g.74891496G>C | CA393171636 | MPI | c.262G>C (p.Asp88His) c.112G>C (p.Asp38His) c.*158G>C (n.*158G>C) c.202G>C (p.Asp68His) c.255+7G>C (n.255+7G>C) n.293G>C c.223G>C (p.Asp75His) c.226G>C (p.Asp76His) n.371G>C c.319G>C (p.Asp107His) c.250G>C (p.Asp84His) | |
| 15 | g.74891496G= | CA2187895673 | MPI | c.262G= (p.Asp88=) c.112G= (p.Asp38=) c.*158G= (n.*158G=) c.202G= (p.Asp68=) c.255+7G= (n.255+7G=) n.293G= c.223G= (p.Asp75=) c.226G= (p.Asp76=) n.371G= c.319G= (p.Asp107=) c.250G= (p.Asp84=) | |
| 15 | g.74891496G>T | CA393171639 | MPI | c.262G>T (p.Asp88Tyr) c.112G>T (p.Asp38Tyr) c.*158G>T (n.*158G>T) c.202G>T (p.Asp68Tyr) c.255+7G>T (n.255+7G>T) n.293G>T c.223G>T (p.Asp75Tyr) c.226G>T (p.Asp76Tyr) n.371G>T c.319G>T (p.Asp107Tyr) c.250G>T (p.Asp84Tyr) | |
| 15 | g.74891497A>C | CA393171650 | MPI | c.263A>C (p.Asp88Ala) c.113A>C (p.Asp38Ala) c.*159A>C (n.*159A>C) c.203A>C (p.Asp68Ala) c.255+8A>C (n.255+8A>C) n.294A>C c.224A>C (p.Asp75Ala) c.227A>C (p.Asp76Ala) n.372A>C c.320A>C (p.Asp107Ala) c.251A>C (p.Asp84Ala) | |
| 15 | g.74891497A>G | CA393171644 | MPI | c.263A>G (p.Asp88Gly) c.113A>G (p.Asp38Gly) c.*159A>G (n.*159A>G) c.203A>G (p.Asp68Gly) c.255+8A>G (n.255+8A>G) n.294A>G c.224A>G (p.Asp75Gly) c.227A>G (p.Asp76Gly) n.372A>G c.320A>G (p.Asp107Gly) c.251A>G (p.Asp84Gly) | |
| 15 | g.74891497A>T | CA393171646 | MPI | c.263A>T (p.Asp88Val) c.113A>T (p.Asp38Val) c.*159A>T (n.*159A>T) c.203A>T (p.Asp68Val) c.255+8A>T (n.255+8A>T) n.294A>T c.224A>T (p.Asp75Val) c.227A>T (p.Asp76Val) n.372A>T c.320A>T (p.Asp107Val) c.251A>T (p.Asp84Val) | |
| 15 | g.74891497_74891498delinsAC | CA2187895676 | MPI | c.263_264delinsAC (p.Asp88=) c.113_114delinsAC (p.Asp38=) c.*159_*160delinsAC (n.*159_*160delinsAC) c.203_204delinsAC (p.Asp68=) c.255+8_255+9delinsAC (n.255+8_255+9delinsAC) n.294_295delinsAC c.224_225delinsAC (p.Asp75=) c.227_228delinsAC (p.Asp76=) n.372_373delinsAC c.320_321delinsAC (p.Asp107=) c.251_252delinsAC (p.Asp84=) | |
| 15 | g.74891498del | CA272822405 | MPI | c.264del (p.Asp88GlufsTer?) c.114del (p.Asp38GlufsTer?) c.*160del (n.*160del) c.204del (p.Asp68GlufsTer?) c.255+9del (n.255+9del) n.295del c.225del (p.Asp75GlufsTer?) c.228del (p.Asp76GlufsTer?) n.373del c.321del (p.Asp107GlufsTer?) c.252del (p.Asp84GlufsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.74891498C>A | CA393171657 | MPI | c.264C>A (p.Asp88Glu) c.114C>A (p.Asp38Glu) c.*160C>A (n.*160C>A) c.204C>A (p.Asp68Glu) c.255+9C>A (n.255+9C>A) n.295C>A c.225C>A (p.Asp75Glu) c.228C>A (p.Asp76Glu) n.373C>A c.321C>A (p.Asp107Glu) c.252C>A (p.Asp84Glu) | |
| 15 | g.74891498C= | CA2187895680 | MPI | c.264C= (p.Asp88=) c.114C= (p.Asp38=) c.*160C= (n.*160C=) c.204C= (p.Asp68=) c.255+9C= (n.255+9C=) n.295C= c.225C= (p.Asp75=) c.228C= (p.Asp76=) n.373C= c.321C= (p.Asp107=) c.252C= (p.Asp84=) | |
| 15 | g.74891498C>G | CA393171661 | MPI | c.264C>G (p.Asp88Glu) c.114C>G (p.Asp38Glu) c.*160C>G (n.*160C>G) c.204C>G (p.Asp68Glu) c.255+9C>G (n.255+9C>G) n.295C>G c.225C>G (p.Asp75Glu) c.228C>G (p.Asp76Glu) n.373C>G c.321C>G (p.Asp107Glu) c.252C>G (p.Asp84Glu) | |
| 15 | g.74891498C>T | CA272822407 | MPI | c.264C>T (p.Asp88=) c.114C>T (p.Asp38=) c.*160C>T (n.*160C>T) c.204C>T (p.Asp68=) c.255+9C>T (n.255+9C>T) n.295C>T c.225C>T (p.Asp75=) c.228C>T (p.Asp76=) n.373C>T c.321C>T (p.Asp107=) c.252C>T (p.Asp84=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74891499del | CA393171687 | MPI | c.265del (p.Thr89ProfsTer?) c.115del (p.Thr39ProfsTer?) c.*161del (n.*161del) c.205del (p.Thr69ProfsTer?) c.255+10del (n.255+10del) n.296del c.226del (p.Thr76ProfsTer?) c.229del (p.Thr77ProfsTer?) n.374del c.322del (p.Thr108ProfsTer?) c.253del (p.Thr85ProfsTer?) | |
| 15 | g.74891499A>C | CA393171676 | MPI | c.265A>C (p.Thr89Pro) c.115A>C (p.Thr39Pro) c.*161A>C (n.*161A>C) c.205A>C (p.Thr69Pro) c.255+10A>C (n.255+10A>C) n.296A>C c.226A>C (p.Thr76Pro) c.229A>C (p.Thr77Pro) n.374A>C c.322A>C (p.Thr108Pro) c.253A>C (p.Thr85Pro) | |
| 15 | g.74891499A>G | CA393171680 | MPI | c.265A>G (p.Thr89Ala) c.115A>G (p.Thr39Ala) c.*161A>G (n.*161A>G) c.205A>G (p.Thr69Ala) c.255+10A>G (n.255+10A>G) n.296A>G c.226A>G (p.Thr76Ala) c.229A>G (p.Thr77Ala) n.374A>G c.322A>G (p.Thr108Ala) c.253A>G (p.Thr85Ala) | |
| 15 | g.74891499A>T | CA393171684 | MPI | c.265A>T (p.Thr89Ser) c.115A>T (p.Thr39Ser) c.*161A>T (n.*161A>T) c.205A>T (p.Thr69Ser) c.255+10A>T (n.255+10A>T) n.296A>T c.226A>T (p.Thr76Ser) c.229A>T (p.Thr77Ser) n.374A>T c.322A>T (p.Thr108Ser) c.253A>T (p.Thr85Ser) | |
| 15 | g.74891500C>A | CA393171690 | MPI | c.266C>A (p.Thr89Asn) c.116C>A (p.Thr39Asn) c.*162C>A (n.*162C>A) c.206C>A (p.Thr69Asn) c.255+11C>A (n.255+11C>A) n.297C>A c.227C>A (p.Thr76Asn) c.230C>A (p.Thr77Asn) n.375C>A c.323C>A (p.Thr108Asn) c.254C>A (p.Thr85Asn) | gnomAD v4 |
| 15 | g.74891500C>G | CA393171692 | MPI | c.266C>G (p.Thr89Ser) c.116C>G (p.Thr39Ser) c.*162C>G (n.*162C>G) c.206C>G (p.Thr69Ser) c.255+11C>G (n.255+11C>G) n.297C>G c.227C>G (p.Thr76Ser) c.230C>G (p.Thr77Ser) n.375C>G c.323C>G (p.Thr108Ser) c.254C>G (p.Thr85Ser) | |
| 15 | g.74891500C>T | CA393171693 | MPI | c.266C>T (p.Thr89Ile) c.116C>T (p.Thr39Ile) c.*162C>T (n.*162C>T) c.206C>T (p.Thr69Ile) c.255+11C>T (n.255+11C>T) n.297C>T c.227C>T (p.Thr76Ile) c.230C>T (p.Thr77Ile) n.375C>T c.323C>T (p.Thr108Ile) c.254C>T (p.Thr85Ile) | gnomAD v4 |
| 15 | g.74891501C>A | CA491220170 | MPI | c.267C>A (p.Thr89=) c.117C>A (p.Thr39=) c.*163C>A (n.*163C>A) c.207C>A (p.Thr69=) c.255+12C>A (n.255+12C>A) n.298C>A c.228C>A (p.Thr76=) c.231C>A (p.Thr77=) n.376C>A c.324C>A (p.Thr108=) c.255C>A (p.Thr85=) | |
| 15 | g.74891501C>G | CA491220168 | MPI | c.267C>G (p.Thr89=) c.117C>G (p.Thr39=) c.*163C>G (n.*163C>G) c.207C>G (p.Thr69=) c.255+12C>G (n.255+12C>G) n.298C>G c.228C>G (p.Thr76=) c.231C>G (p.Thr77=) n.376C>G c.324C>G (p.Thr108=) c.255C>G (p.Thr85=) | |
| 15 | g.74891501C>T | CA491220169 | MPI | c.267C>T (p.Thr89=) c.117C>T (p.Thr39=) c.*163C>T (n.*163C>T) c.207C>T (p.Thr69=) c.255+12C>T (n.255+12C>T) n.298C>T c.228C>T (p.Thr76=) c.231C>T (p.Thr77=) n.376C>T c.324C>T (p.Thr108=) c.255C>T (p.Thr85=) | |
| 15 | g.74891502T>A | CA393171699 | MPI | c.268T>A (p.Phe90Ile) c.118T>A (p.Phe40Ile) c.*164T>A (n.*164T>A) c.208T>A (p.Phe70Ile) c.255+13T>A (n.255+13T>A) n.299T>A c.229T>A (p.Phe77Ile) c.232T>A (p.Phe78Ile) n.377T>A c.325T>A (p.Phe109Ile) c.256T>A (p.Phe86Ile) | |
| 15 | g.74891502T>C | CA393171704 | MPI | c.268T>C (p.Phe90Leu) c.118T>C (p.Phe40Leu) c.*164T>C (n.*164T>C) c.208T>C (p.Phe70Leu) c.255+13T>C (n.255+13T>C) n.299T>C c.229T>C (p.Phe77Leu) c.232T>C (p.Phe78Leu) n.377T>C c.325T>C (p.Phe109Leu) c.256T>C (p.Phe86Leu) | dbSNP |
| 15 | g.74891502T>G | CA393171695 | MPI | c.268T>G (p.Phe90Val) c.118T>G (p.Phe40Val) c.*164T>G (n.*164T>G) c.208T>G (p.Phe70Val) c.255+13T>G (n.255+13T>G) n.299T>G c.229T>G (p.Phe77Val) c.232T>G (p.Phe78Val) n.377T>G c.325T>G (p.Phe109Val) c.256T>G (p.Phe86Val) | |
| 15 | g.74891502T= | CA2187895683 | MPI | c.268T= (p.Phe90=) c.118T= (p.Phe40=) c.*164T= (n.*164T=) c.208T= (p.Phe70=) c.255+13T= (n.255+13T=) n.299T= c.229T= (p.Phe77=) c.232T= (p.Phe78=) n.377T= c.325T= (p.Phe109=) c.256T= (p.Phe86=) | |
| 15 | g.74891503T>A | CA393171708 | MPI | c.269T>A (p.Phe90Tyr) c.119T>A (p.Phe40Tyr) c.*165T>A (n.*165T>A) c.209T>A (p.Phe70Tyr) c.255+14T>A (n.255+14T>A) n.300T>A c.230T>A (p.Phe77Tyr) c.233T>A (p.Phe78Tyr) n.378T>A c.326T>A (p.Phe109Tyr) c.257T>A (p.Phe86Tyr) | |
| 15 | g.74891503T>C | CA393171711 | MPI | c.269T>C (p.Phe90Ser) c.119T>C (p.Phe40Ser) c.*165T>C (n.*165T>C) c.209T>C (p.Phe70Ser) c.255+14T>C (n.255+14T>C) n.300T>C c.230T>C (p.Phe77Ser) c.233T>C (p.Phe78Ser) n.378T>C c.326T>C (p.Phe109Ser) c.257T>C (p.Phe86Ser) | |
| 15 | g.74891503T>G | CA393171715 | MPI | c.269T>G (p.Phe90Cys) c.119T>G (p.Phe40Cys) c.*165T>G (n.*165T>G) c.209T>G (p.Phe70Cys) c.255+14T>G (n.255+14T>G) n.300T>G c.230T>G (p.Phe77Cys) c.233T>G (p.Phe78Cys) n.378T>G c.326T>G (p.Phe109Cys) c.257T>G (p.Phe86Cys) | ClinVar gnomAD v4 |
| 15 | g.74891504T>A | CA393171718 | MPI | c.270T>A (p.Phe90Leu) c.120T>A (p.Phe40Leu) c.*166T>A (n.*166T>A) c.210T>A (p.Phe70Leu) c.255+15T>A (n.255+15T>A) n.301T>A c.231T>A (p.Phe77Leu) c.234T>A (p.Phe78Leu) n.379T>A c.327T>A (p.Phe109Leu) c.258T>A (p.Phe86Leu) | |
| 15 | g.74891504T>C | CA491220172 | MPI | c.270T>C (p.Phe90=) c.120T>C (p.Phe40=) c.*166T>C (n.*166T>C) c.210T>C (p.Phe70=) c.255+15T>C (n.255+15T>C) n.301T>C c.231T>C (p.Phe77=) c.234T>C (p.Phe78=) n.379T>C c.327T>C (p.Phe109=) c.258T>C (p.Phe86=) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.74891504T>G | CA393171720 | MPI | c.270T>G (p.Phe90Leu) c.120T>G (p.Phe40Leu) c.*166T>G (n.*166T>G) c.210T>G (p.Phe70Leu) c.255+15T>G (n.255+15T>G) n.301T>G c.231T>G (p.Phe77Leu) c.234T>G (p.Phe78Leu) n.379T>G c.327T>G (p.Phe109Leu) c.258T>G (p.Phe86Leu) | |
| 15 | g.74891504T= | CA2187895687 | MPI | c.270T= (p.Phe90=) c.120T= (p.Phe40=) c.*166T= (n.*166T=) c.210T= (p.Phe70=) c.255+15T= (n.255+15T=) n.301T= c.231T= (p.Phe77=) c.234T= (p.Phe78=) n.379T= c.327T= (p.Phe109=) c.258T= (p.Phe86=) | |
| 15 | g.74891505A>C | CA393171724 | MPI | c.271A>C (p.Asn91His) c.121A>C (p.Asn41His) c.*167A>C (n.*167A>C) c.211A>C (p.Asn71His) c.255+16A>C (n.255+16A>C) n.302A>C c.232A>C (p.Asn78His) c.235A>C (p.Asn79His) n.380A>C c.328A>C (p.Asn110His) c.259A>C (p.Asn87His) | |
| 15 | g.74891505A>G | CA393171728 | MPI | c.271A>G (p.Asn91Asp) c.121A>G (p.Asn41Asp) c.*167A>G (n.*167A>G) c.211A>G (p.Asn71Asp) c.255+16A>G (n.255+16A>G) n.302A>G c.232A>G (p.Asn78Asp) c.235A>G (p.Asn79Asp) n.380A>G c.328A>G (p.Asn110Asp) c.259A>G (p.Asn87Asp) | |
| 15 | g.74891505A>T | CA393171731 | MPI | c.271A>T (p.Asn91Tyr) c.121A>T (p.Asn41Tyr) c.*167A>T (n.*167A>T) c.211A>T (p.Asn71Tyr) c.255+16A>T (n.255+16A>T) n.302A>T c.232A>T (p.Asn78Tyr) c.235A>T (p.Asn79Tyr) n.380A>T c.328A>T (p.Asn110Tyr) c.259A>T (p.Asn87Tyr) | |
| 15 | g.74891506A>C | CA393171736 | MPI | c.272A>C (p.Asn91Thr) c.122A>C (p.Asn41Thr) c.*168A>C (n.*168A>C) c.212A>C (p.Asn71Thr) c.255+17A>C (n.255+17A>C) n.303A>C c.233A>C (p.Asn78Thr) c.236A>C (p.Asn79Thr) n.381A>C c.329A>C (p.Asn110Thr) c.260A>C (p.Asn87Thr) | |
| 15 | g.74891506A>G | CA393171739 | MPI | c.272A>G (p.Asn91Ser) c.122A>G (p.Asn41Ser) c.*168A>G (n.*168A>G) c.212A>G (p.Asn71Ser) c.255+17A>G (n.255+17A>G) n.303A>G c.233A>G (p.Asn78Ser) c.236A>G (p.Asn79Ser) n.381A>G c.329A>G (p.Asn110Ser) c.260A>G (p.Asn87Ser) | gnomAD v4 |
| 15 | g.74891506A>T | CA393171741 | MPI | c.272A>T (p.Asn91Ile) c.122A>T (p.Asn41Ile) c.*168A>T (n.*168A>T) c.212A>T (p.Asn71Ile) c.255+17A>T (n.255+17A>T) n.303A>T c.233A>T (p.Asn78Ile) c.236A>T (p.Asn79Ile) n.381A>T c.329A>T (p.Asn110Ile) c.260A>T (p.Asn87Ile) | |
| 15 | g.74891507T>A | CA393171751 | MPI | c.273T>A (p.Asn91Lys) c.123T>A (p.Asn41Lys) c.*169T>A (n.*169T>A) c.213T>A (p.Asn71Lys) c.255+18T>A (n.255+18T>A) n.304T>A c.234T>A (p.Asn78Lys) c.237T>A (p.Asn79Lys) n.382T>A c.330T>A (p.Asn110Lys) c.261T>A (p.Asn87Lys) | |
| 15 | g.74891507T>C | CA491220176 | MPI | c.273T>C (p.Asn91=) c.123T>C (p.Asn41=) c.*169T>C (n.*169T>C) c.213T>C (p.Asn71=) c.255+18T>C (n.255+18T>C) n.304T>C c.234T>C (p.Asn78=) c.237T>C (p.Asn79=) n.382T>C c.330T>C (p.Asn110=) c.261T>C (p.Asn87=) | COSMIC |
| 15 | g.74891507T>G | CA393171753 | MPI | c.273T>G (p.Asn91Lys) c.123T>G (p.Asn41Lys) c.*169T>G (n.*169T>G) c.213T>G (p.Asn71Lys) c.255+18T>G (n.255+18T>G) n.304T>G c.234T>G (p.Asn78Lys) c.237T>G (p.Asn79Lys) n.382T>G c.330T>G (p.Asn110Lys) c.261T>G (p.Asn87Lys) | |
| 15 | g.74891508G>A | CA393171765 | MPI | c.274G>A (p.Gly92Ser) c.124G>A (p.Gly42Ser) c.*170G>A (n.*170G>A) c.214G>A (p.Gly72Ser) c.255+19G>A (n.255+19G>A) n.305G>A c.235G>A (p.Gly79Ser) c.238G>A (p.Gly80Ser) n.383G>A c.331G>A (p.Gly111Ser) c.262G>A (p.Gly88Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.74891508G>C | CA393171761 | MPI | c.274G>C (p.Gly92Arg) c.124G>C (p.Gly42Arg) c.*170G>C (n.*170G>C) c.214G>C (p.Gly72Arg) c.255+19G>C (n.255+19G>C) n.305G>C c.235G>C (p.Gly79Arg) c.238G>C (p.Gly80Arg) n.383G>C c.331G>C (p.Gly111Arg) c.262G>C (p.Gly88Arg) | |
| 15 | g.74891508G= | CA2187895689 | MPI | c.274G= (p.Gly92=) c.124G= (p.Gly42=) c.*170G= (n.*170G=) c.214G= (p.Gly72=) c.255+19G= (n.255+19G=) n.305G= c.235G= (p.Gly79=) c.238G= (p.Gly80=) n.383G= c.331G= (p.Gly111=) c.262G= (p.Gly88=) | |
| 15 | g.74891508G>T | CA393171759 | MPI | c.274G>T (p.Gly92Cys) c.124G>T (p.Gly42Cys) c.*170G>T (n.*170G>T) c.214G>T (p.Gly72Cys) c.255+19G>T (n.255+19G>T) n.305G>T c.235G>T (p.Gly79Cys) c.238G>T (p.Gly80Cys) n.383G>T c.331G>T (p.Gly111Cys) c.262G>T (p.Gly88Cys) | |
| 15 | g.74891509G>A | CA393171769 | MPI | c.275G>A (p.Gly92Asp) c.125G>A (p.Gly42Asp) c.*171G>A (n.*171G>A) c.215G>A (p.Gly72Asp) c.255+20G>A (n.255+20G>A) n.306G>A c.236G>A (p.Gly79Asp) c.239G>A (p.Gly80Asp) n.384G>A c.332G>A (p.Gly111Asp) c.263G>A (p.Gly88Asp) | |
| 15 | g.74891509G>C | CA393171770 | MPI | c.275G>C (p.Gly92Ala) c.125G>C (p.Gly42Ala) c.*171G>C (n.*171G>C) c.215G>C (p.Gly72Ala) c.255+20G>C (n.255+20G>C) n.306G>C c.236G>C (p.Gly79Ala) c.239G>C (p.Gly80Ala) n.384G>C c.332G>C (p.Gly111Ala) c.263G>C (p.Gly88Ala) | |
| 15 | g.74891509G>T | CA393171771 | MPI | c.275G>T (p.Gly92Val) c.125G>T (p.Gly42Val) c.*171G>T (n.*171G>T) c.215G>T (p.Gly72Val) c.255+20G>T (n.255+20G>T) n.306G>T c.236G>T (p.Gly79Val) c.239G>T (p.Gly80Val) n.384G>T c.332G>T (p.Gly111Val) c.263G>T (p.Gly88Val) | |
| 15 | g.74891510C>A | CA491220180 | MPI | c.276C>A (p.Gly92=) c.126C>A (p.Gly42=) c.*172C>A (n.*172C>A) c.216C>A (p.Gly72=) c.255+21C>A (n.255+21C>A) n.307C>A c.237C>A (p.Gly79=) c.240C>A (p.Gly80=) n.385C>A c.333C>A (p.Gly111=) c.264C>A (p.Gly88=) | |
| 15 | g.74891510C>G | CA491220181 | MPI | c.276C>G (p.Gly92=) c.126C>G (p.Gly42=) c.*172C>G (n.*172C>G) c.216C>G (p.Gly72=) c.255+21C>G (n.255+21C>G) n.307C>G c.237C>G (p.Gly79=) c.240C>G (p.Gly80=) n.385C>G c.333C>G (p.Gly111=) c.264C>G (p.Gly88=) | |
| 15 | g.74891510C>T | CA491220182 | MPI | c.276C>T (p.Gly92=) c.126C>T (p.Gly42=) c.*172C>T (n.*172C>T) c.216C>T (p.Gly72=) c.255+21C>T (n.255+21C>T) n.307C>T c.237C>T (p.Gly79=) c.240C>T (p.Gly80=) n.385C>T c.333C>T (p.Gly111=) c.264C>T (p.Gly88=) | |
| 15 | g.74891511A>C | CA393171776 | MPI | c.277A>C (p.Asn93His) c.127A>C (p.Asn43His) c.*173A>C (n.*173A>C) c.217A>C (p.Asn73His) c.255+22A>C (n.255+22A>C) n.308A>C c.238A>C (p.Asn80His) c.241A>C (p.Asn81His) n.386A>C c.334A>C (p.Asn112His) c.265A>C (p.Asn89His) | |
| 15 | g.74891511A>G | CA393171779 | MPI | c.277A>G (p.Asn93Asp) c.127A>G (p.Asn43Asp) c.*173A>G (n.*173A>G) c.217A>G (p.Asn73Asp) c.255+22A>G (n.255+22A>G) n.308A>G c.238A>G (p.Asn80Asp) c.241A>G (p.Asn81Asp) n.386A>G c.334A>G (p.Asn112Asp) c.265A>G (p.Asn89Asp) | |
| 15 | g.74891511A>T | CA393171781 | MPI | c.277A>T (p.Asn93Tyr) c.127A>T (p.Asn43Tyr) c.*173A>T (n.*173A>T) c.217A>T (p.Asn73Tyr) c.255+22A>T (n.255+22A>T) n.308A>T c.238A>T (p.Asn80Tyr) c.241A>T (p.Asn81Tyr) n.386A>T c.334A>T (p.Asn112Tyr) c.265A>T (p.Asn89Tyr) | |
| 15 | g.74891512A>C | CA393171785 | MPI | c.278A>C (p.Asn93Thr) c.128A>C (p.Asn43Thr) c.*174A>C (n.*174A>C) c.218A>C (p.Asn73Thr) c.255+23A>C (n.255+23A>C) n.309A>C c.239A>C (p.Asn80Thr) c.242A>C (p.Asn81Thr) n.387A>C c.335A>C (p.Asn112Thr) c.266A>C (p.Asn89Thr) | |
| 15 | g.74891512A>G | CA393171787 | MPI | c.278A>G (p.Asn93Ser) c.128A>G (p.Asn43Ser) c.*174A>G (n.*174A>G) c.218A>G (p.Asn73Ser) c.255+23A>G (n.255+23A>G) n.309A>G c.239A>G (p.Asn80Ser) c.242A>G (p.Asn81Ser) n.387A>G c.335A>G (p.Asn112Ser) c.266A>G (p.Asn89Ser) | gnomAD v4 |
| 15 | g.74891512A>T | CA393171791 | MPI | c.278A>T (p.Asn93Ile) c.128A>T (p.Asn43Ile) c.*174A>T (n.*174A>T) c.218A>T (p.Asn73Ile) c.255+23A>T (n.255+23A>T) n.309A>T c.239A>T (p.Asn80Ile) c.242A>T (p.Asn81Ile) n.387A>T c.335A>T (p.Asn112Ile) c.266A>T (p.Asn89Ile) | gnomAD v4 |
| 15 | g.74891513C>A | CA7662399 | MPI | c.279C>A (p.Asn93Lys) c.129C>A (p.Asn43Lys) c.*175C>A (n.*175C>A) c.219C>A (p.Asn73Lys) c.255+24C>A (n.255+24C>A) n.310C>A c.240C>A (p.Asn80Lys) c.243C>A (p.Asn81Lys) n.388C>A c.336C>A (p.Asn112Lys) c.267C>A (p.Asn89Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74891513C= | CA2187895693 | MPI | c.279C= (p.Asn93=) c.129C= (p.Asn43=) c.*175C= (n.*175C=) c.219C= (p.Asn73=) c.255+24C= (n.255+24C=) n.310C= c.240C= (p.Asn80=) c.243C= (p.Asn81=) n.388C= c.336C= (p.Asn112=) c.267C= (p.Asn89=) | |
| 15 | g.74891513C>G | CA393171795 | MPI | c.279C>G (p.Asn93Lys) c.129C>G (p.Asn43Lys) c.*175C>G (n.*175C>G) c.219C>G (p.Asn73Lys) c.255+24C>G (n.255+24C>G) n.310C>G c.240C>G (p.Asn80Lys) c.243C>G (p.Asn81Lys) n.388C>G c.336C>G (p.Asn112Lys) c.267C>G (p.Asn89Lys) | |
| 15 | g.74891513C>T | CA491220184 | MPI | c.279C>T (p.Asn93=) c.129C>T (p.Asn43=) c.*175C>T (n.*175C>T) c.219C>T (p.Asn73=) c.255+24C>T (n.255+24C>T) n.310C>T c.240C>T (p.Asn80=) c.243C>T (p.Asn81=) n.388C>T c.336C>T (p.Asn112=) c.267C>T (p.Asn89=) | gnomAD v4 |