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 |
|---|---|---|---|---|---|
| 11 | g.67490216_67490316del | CA2792512322 | AIP | c.622+2_623del c.456+2_457del n.1157+2_1158del c.468+761_469-681del (n.468+761_469-681del) c.276+2_277del c.645+2_646del c.468+2_469del c.465+2_466del c.297+2_298del | |
| 11 | g.67490296C= | CA1980172391 | AIP,MIR6752 | c.623-20C= c.457-20C= (n.457-20C=) n.1158-20C= c.469-701C= (n.469-701C=) c.277-20C= (n.277-20C=) c.646-20C= (n.646-20C=) c.469-20C= (n.469-20C=) c.466-20C= (n.466-20C=) c.298-20C= (n.298-20C=) n.52C= | |
| 11 | g.67490296C>G | CA6140903 | AIP,MIR6752 | c.623-20C>G c.457-20C>G (n.457-20C>G) n.1158-20C>G c.469-701C>G (n.469-701C>G) c.277-20C>G (n.277-20C>G) c.646-20C>G (n.646-20C>G) c.469-20C>G (n.469-20C>G) c.466-20C>G (n.466-20C>G) c.298-20C>G (n.298-20C>G) n.52C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.67490296_67490297insA | CA2507285438 | AIP,MIR6752 | c.623-20_623-19insA c.457-20_457-19insA (n.457-20_457-19insA) n.1158-20_1158-19insA c.469-701_469-700insA (n.469-701_469-700insA) c.277-20_277-19insA (n.277-20_277-19insA) c.646-20_646-19insA (n.646-20_646-19insA) c.469-20_469-19insA (n.469-20_469-19insA) c.466-20_466-19insA (n.466-20_466-19insA) c.298-20_298-19insA (n.298-20_298-19insA) n.52_53insA | |
| 11 | g.67490297_67490298insT | CA2521142059 | AIP,MIR6752 | c.623-19_623-18insT c.457-19_457-18insT (n.457-19_457-18insT) n.1158-19_1158-18insT c.469-700_469-699insT (n.469-700_469-699insT) c.277-19_277-18insT (n.277-19_277-18insT) c.646-19_646-18insT (n.646-19_646-18insT) c.469-19_469-18insT (n.469-19_469-18insT) c.466-19_466-18insT (n.466-19_466-18insT) c.298-19_298-18insT (n.298-19_298-18insT) n.53_54insT | |
| 11 | g.67490298C= | CA1980172392 | AIP,MIR6752 | c.623-18C= c.457-18C= (n.457-18C=) n.1158-18C= c.469-699C= (n.469-699C=) c.277-18C= (n.277-18C=) c.646-18C= (n.646-18C=) c.469-18C= (n.469-18C=) c.466-18C= (n.466-18C=) c.298-18C= (n.298-18C=) n.54C= | |
| 11 | g.67490298C>T | CA224165170 | AIP,MIR6752 | c.623-18C>T c.457-18C>T (n.457-18C>T) n.1158-18C>T c.469-699C>T (n.469-699C>T) c.277-18C>T (n.277-18C>T) c.646-18C>T (n.646-18C>T) c.469-18C>T (n.469-18C>T) c.466-18C>T (n.466-18C>T) c.298-18C>T (n.298-18C>T) n.54C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490298_67490299delinsCT | CA1980172393 | AIP,MIR6752 | c.623-18_623-17delinsCT c.457-18_457-17delinsCT (n.457-18_457-17delinsCT) n.1158-18_1158-17delinsCT c.469-699_469-698delinsCT (n.469-699_469-698delinsCT) c.277-18_277-17delinsCT (n.277-18_277-17delinsCT) c.646-18_646-17delinsCT (n.646-18_646-17delinsCT) c.469-18_469-17delinsCT (n.469-18_469-17delinsCT) c.466-18_466-17delinsCT (n.466-18_466-17delinsCT) c.298-18_298-17delinsCT (n.298-18_298-17delinsCT) n.54_55delinsCT | |
| 11 | g.67490299del | CA6140904 | AIP,MIR6752 | c.623-17del c.457-17del (n.457-17del) n.1158-17del c.469-698del (n.469-698del) c.277-17del (n.277-17del) c.646-17del (n.646-17del) c.469-17del (n.469-17del) c.466-17del (n.466-17del) c.298-17del (n.298-17del) n.55del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.67490301C>A | CA2614623544 | AIP,MIR6752 | c.623-15C>A c.457-15C>A (n.457-15C>A) n.1158-15C>A c.469-696C>A (n.469-696C>A) c.277-15C>A (n.277-15C>A) c.646-15C>A (n.646-15C>A) c.469-15C>A (n.469-15C>A) c.466-15C>A (n.466-15C>A) c.298-15C>A (n.298-15C>A) n.57C>A | gnomAD v4 |
| 11 | g.67490301C= | CA1980172394 | AIP,MIR6752 | c.623-15C= c.457-15C= (n.457-15C=) n.1158-15C= c.469-696C= (n.469-696C=) c.277-15C= (n.277-15C=) c.646-15C= (n.646-15C=) c.469-15C= (n.469-15C=) c.466-15C= (n.466-15C=) c.298-15C= (n.298-15C=) n.57C= | |
| 11 | g.67490301C>T | CA1980172395 | AIP,MIR6752 | c.623-15C>T c.457-15C>T (n.457-15C>T) n.1158-15C>T c.469-696C>T (n.469-696C>T) c.277-15C>T (n.277-15C>T) c.646-15C>T (n.646-15C>T) c.469-15C>T (n.469-15C>T) c.466-15C>T (n.466-15C>T) c.298-15C>T (n.298-15C>T) n.57C>T | dbSNP gnomAD v4 |
| 11 | g.67490302C= | CA1980172396 | AIP,MIR6752 | c.623-14C= c.457-14C= (n.457-14C=) n.1158-14C= c.469-695C= (n.469-695C=) c.277-14C= (n.277-14C=) c.646-14C= (n.646-14C=) c.469-14C= (n.469-14C=) c.466-14C= (n.466-14C=) c.298-14C= (n.298-14C=) n.58C= | |
| 11 | g.67490302C>T | CA1980172397 | AIP,MIR6752 | c.623-14C>T c.457-14C>T (n.457-14C>T) n.1158-14C>T c.469-695C>T (n.469-695C>T) c.277-14C>T (n.277-14C>T) c.646-14C>T (n.646-14C>T) c.469-14C>T (n.469-14C>T) c.466-14C>T (n.466-14C>T) c.298-14C>T (n.298-14C>T) n.58C>T | ClinVar dbSNP |
| 11 | g.67490303C>A | CA2792512335 | AIP,MIR6752 | c.623-13C>A c.457-13C>A (n.457-13C>A) n.1158-13C>A c.469-694C>A (n.469-694C>A) c.277-13C>A (n.277-13C>A) c.646-13C>A (n.646-13C>A) c.469-13C>A (n.469-13C>A) c.466-13C>A (n.466-13C>A) c.298-13C>A (n.298-13C>A) n.59C>A | |
| 11 | g.67490304C= | CA1980172398 | AIP,MIR6752 | c.623-12C= c.457-12C= (n.457-12C=) n.1158-12C= c.469-693C= (n.469-693C=) c.277-12C= (n.277-12C=) c.646-12C= (n.646-12C=) c.469-12C= (n.469-12C=) c.466-12C= (n.466-12C=) c.298-12C= (n.298-12C=) n.60C= | |
| 11 | g.67490304C>G | CA2598397910 | AIP,MIR6752 | c.623-12C>G c.457-12C>G (n.457-12C>G) n.1158-12C>G c.469-693C>G (n.469-693C>G) c.277-12C>G (n.277-12C>G) c.646-12C>G (n.646-12C>G) c.469-12C>G (n.469-12C>G) c.466-12C>G (n.466-12C>G) c.298-12C>G (n.298-12C>G) n.60C>G | gnomAD v3 gnomAD v4 |
| 11 | g.67490304C>T | CA6140905 | AIP,MIR6752 | c.623-12C>T c.457-12C>T (n.457-12C>T) n.1158-12C>T c.469-693C>T (n.469-693C>T) c.277-12C>T (n.277-12C>T) c.646-12C>T (n.646-12C>T) c.469-12C>T (n.469-12C>T) c.466-12C>T (n.466-12C>T) c.298-12C>T (n.298-12C>T) n.60C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.67490305C>T | CA2614623563 | AIP,MIR6752 | c.623-11C>T c.457-11C>T (n.457-11C>T) n.1158-11C>T c.469-692C>T (n.469-692C>T) c.277-11C>T (n.277-11C>T) c.646-11C>T (n.646-11C>T) c.469-11C>T (n.469-11C>T) c.466-11C>T (n.466-11C>T) c.298-11C>T (n.298-11C>T) n.61C>T | gnomAD v4 |
| 11 | g.67490306A= | CA1980172399 | AIP,MIR6752 | c.623-10A= c.457-10A= (n.457-10A=) n.1158-10A= c.469-691A= (n.469-691A=) c.277-10A= (n.277-10A=) c.646-10A= (n.646-10A=) c.469-10A= (n.469-10A=) c.466-10A= (n.466-10A=) c.298-10A= (n.298-10A=) n.62A= | |
| 11 | g.67490306A>G | CA939069724 | AIP,MIR6752 | c.623-10A>G c.457-10A>G (n.457-10A>G) n.1158-10A>G c.469-691A>G (n.469-691A>G) c.277-10A>G (n.277-10A>G) c.646-10A>G (n.646-10A>G) c.469-10A>G (n.469-10A>G) c.466-10A>G (n.466-10A>G) c.298-10A>G (n.298-10A>G) n.62A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.67490306A>T | CA2573147635 | AIP,MIR6752 | c.623-10A>T c.457-10A>T (n.457-10A>T) n.1158-10A>T c.469-691A>T (n.469-691A>T) c.277-10A>T (n.277-10A>T) c.646-10A>T (n.646-10A>T) c.469-10A>T (n.469-10A>T) c.466-10A>T (n.466-10A>T) c.298-10A>T (n.298-10A>T) n.62A>T | ClinVar dbSNP |
| 11 | g.67490308del | CA2549802067 | AIP,MIR6752 | c.623-8del c.457-8del (n.457-8del) n.1158-8del c.469-689del (n.469-689del) c.277-8del (n.277-8del) c.646-8del (n.646-8del) c.469-8del (n.469-8del) c.466-8del (n.466-8del) c.298-8del (n.298-8del) n.64del | |
| 11 | g.67490308A>G | CA2724392293 | AIP,MIR6752 | c.623-8A>G c.457-8A>G (n.457-8A>G) n.1158-8A>G c.469-689A>G (n.469-689A>G) c.277-8A>G (n.277-8A>G) c.646-8A>G (n.646-8A>G) c.469-8A>G (n.469-8A>G) c.466-8A>G (n.466-8A>G) c.298-8A>G (n.298-8A>G) n.64A>G | dbSNP |
| 11 | g.67490309C>G | CA2554884002 | AIP,MIR6752 | c.623-7C>G c.457-7C>G (n.457-7C>G) n.1158-7C>G c.469-688C>G (n.469-688C>G) c.277-7C>G (n.277-7C>G) c.646-7C>G (n.646-7C>G) c.469-7C>G (n.469-7C>G) c.466-7C>G (n.466-7C>G) c.298-7C>G (n.298-7C>G) n.65C>G | |
| 11 | g.67490309C>T | CA2614623569 | AIP,MIR6752 | c.623-7C>T c.457-7C>T (n.457-7C>T) n.1158-7C>T c.469-688C>T (n.469-688C>T) c.277-7C>T (n.277-7C>T) c.646-7C>T (n.646-7C>T) c.469-7C>T (n.469-7C>T) c.466-7C>T (n.466-7C>T) c.298-7C>T (n.298-7C>T) n.65C>T | gnomAD v4 |
| 11 | g.67490310T>C | CA2614623573 | AIP,MIR6752 | c.623-6T>C c.457-6T>C (n.457-6T>C) n.1158-6T>C c.469-687T>C (n.469-687T>C) c.277-6T>C (n.277-6T>C) c.646-6T>C (n.646-6T>C) c.469-6T>C (n.469-6T>C) c.466-6T>C (n.466-6T>C) c.298-6T>C (n.298-6T>C) n.66T>C | gnomAD v4 |
| 11 | g.67490311C= | CA1980172401 | AIP,MIR6752 | c.623-5C= c.457-5C= (n.457-5C=) n.1158-5C= c.469-686C= (n.469-686C=) c.277-5C= (n.277-5C=) c.646-5C= (n.646-5C=) c.469-5C= (n.469-5C=) c.466-5C= (n.466-5C=) c.298-5C= (n.298-5C=) n.67C= | |
| 11 | g.67490311C>G | CA1980172402 | AIP,MIR6752 | c.623-5C>G c.457-5C>G (n.457-5C>G) n.1158-5C>G c.469-686C>G (n.469-686C>G) c.277-5C>G (n.277-5C>G) c.646-5C>G (n.646-5C>G) c.469-5C>G (n.469-5C>G) c.466-5C>G (n.466-5C>G) c.298-5C>G (n.298-5C>G) n.67C>G | dbSNP |
| 11 | g.67490311C>T | CA1980172400 | AIP,MIR6752 | c.623-5C>T c.457-5C>T (n.457-5C>T) n.1158-5C>T c.469-686C>T (n.469-686C>T) c.277-5C>T (n.277-5C>T) c.646-5C>T (n.646-5C>T) c.469-5C>T (n.469-5C>T) c.466-5C>T (n.466-5C>T) c.298-5C>T (n.298-5C>T) n.67C>T | dbSNP |
| 11 | g.67490312C>T | CA2574896291 | AIP,MIR6752 | c.623-4C>T c.457-4C>T (n.457-4C>T) n.1158-4C>T c.469-685C>T (n.469-685C>T) c.277-4C>T (n.277-4C>T) c.646-4C>T (n.646-4C>T) c.469-4C>T (n.469-4C>T) c.466-4C>T (n.466-4C>T) c.298-4C>T (n.298-4C>T) n.68C>T | ClinVar gnomAD v4 |
| 11 | g.67490313C>T | CA2573147636 | AIP,MIR6752 | c.623-3C>T c.457-3C>T (n.457-3C>T) n.1158-3C>T c.469-684C>T (n.469-684C>T) c.277-3C>T (n.277-3C>T) c.646-3C>T (n.646-3C>T) c.469-3C>T (n.469-3C>T) c.466-3C>T (n.466-3C>T) c.298-3C>T (n.298-3C>T) n.69C>T | ClinVar dbSNP |
| 11 | g.67490313_67490314insGC | CA2550933795 | AIP,MIR6752 | c.623-3_623-2insGC c.457-3_457-2insGC (n.457-3_457-2insGC) n.1158-3_1158-2insGC c.469-684_469-683insGC (n.469-684_469-683insGC) c.277-3_277-2insGC (n.277-3_277-2insGC) c.646-3_646-2insGC (n.646-3_646-2insGC) c.469-3_469-2insGC (n.469-3_469-2insGC) c.466-3_466-2insGC (n.466-3_466-2insGC) c.298-3_298-2insGC (n.298-3_298-2insGC) n.69_70insGC | |
| 11 | g.67490314A>C | CA381551459 | AIP,MIR6752 | c.623-2A>C c.457-2A>C (n.457-2A>C) n.1158-2A>C c.469-683A>C (n.469-683A>C) c.277-2A>C (n.277-2A>C) c.646-2A>C (n.646-2A>C) c.469-2A>C (n.469-2A>C) c.466-2A>C (n.466-2A>C) c.298-2A>C (n.298-2A>C) n.70A>C | |
| 11 | g.67490314A>G | CA381551460 | AIP,MIR6752 | c.623-2A>G c.457-2A>G (n.457-2A>G) n.1158-2A>G c.469-683A>G (n.469-683A>G) c.277-2A>G (n.277-2A>G) c.646-2A>G (n.646-2A>G) c.469-2A>G (n.469-2A>G) c.466-2A>G (n.466-2A>G) c.298-2A>G (n.298-2A>G) n.70A>G | gnomAD v4 |
| 11 | g.67490314A>T | CA381551461 | AIP,MIR6752 | c.623-2A>T c.457-2A>T (n.457-2A>T) n.1158-2A>T c.469-683A>T (n.469-683A>T) c.277-2A>T (n.277-2A>T) c.646-2A>T (n.646-2A>T) c.469-2A>T (n.469-2A>T) c.466-2A>T (n.466-2A>T) c.298-2A>T (n.298-2A>T) n.70A>T | |
| 11 | g.67490315G>A | CA381551462 | AIP,MIR6752 | c.623-1G>A c.457-1G>A (n.457-1G>A) n.1158-1G>A c.469-682G>A (n.469-682G>A) c.277-1G>A (n.277-1G>A) c.646-1G>A (n.646-1G>A) c.469-1G>A (n.469-1G>A) c.466-1G>A (n.466-1G>A) c.298-1G>A (n.298-1G>A) n.71G>A | gnomAD v4 |
| 11 | g.67490315G>C | CA381551463 | AIP,MIR6752 | c.623-1G>C c.457-1G>C (n.457-1G>C) n.1158-1G>C c.469-682G>C (n.469-682G>C) c.277-1G>C (n.277-1G>C) c.646-1G>C (n.646-1G>C) c.469-1G>C (n.469-1G>C) c.466-1G>C (n.466-1G>C) c.298-1G>C (n.298-1G>C) n.71G>C | |
| 11 | g.67490315G>T | CA381551464 | AIP,MIR6752 | c.623-1G>T c.457-1G>T (n.457-1G>T) n.1158-1G>T c.469-682G>T (n.469-682G>T) c.277-1G>T (n.277-1G>T) c.646-1G>T (n.646-1G>T) c.469-1G>T (n.469-1G>T) c.466-1G>T (n.466-1G>T) c.298-1G>T (n.298-1G>T) n.71G>T | |
| 11 | g.67490316G>A | CA381551465 | AIP | c.623G>A c.457G>A (p.Glu153Lys) n.1158G>A c.469-681G>A (n.469-681G>A) c.277G>A (p.Glu93Lys) c.646G>A (p.Glu216Lys) c.469G>A (p.Glu157Lys) c.466G>A (p.Glu156Lys) c.298G>A (p.Glu100Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.67490316G>C | CA381551466 | AIP | c.623G>C c.457G>C (p.Glu153Gln) n.1158G>C c.469-681G>C (n.469-681G>C) c.277G>C (p.Glu93Gln) c.646G>C (p.Glu216Gln) c.469G>C (p.Glu157Gln) c.466G>C (p.Glu156Gln) c.298G>C (p.Glu100Gln) | |
| 11 | g.67490316G= | CA1980172403 | AIP | c.623G= c.457G= (p.Glu153=) n.1158G= c.469-681G= (n.469-681G=) c.277G= (p.Glu93=) c.646G= (p.Glu216=) c.469G= (p.Glu157=) c.466G= (p.Glu156=) c.298G= (p.Glu100=) | |
| 11 | g.67490316G>T | CA344142 | AIP | c.623G>T c.457G>T (p.Glu153Ter) n.1158G>T c.469-681G>T (n.469-681G>T) c.277G>T (p.Glu93Ter) c.646G>T (p.Glu216Ter) c.469G>T (p.Glu157Ter) c.466G>T (p.Glu156Ter) c.298G>T (p.Glu100Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490317A>C | CA381551469 | AIP | c.624A>C c.458A>C (p.Glu153Ala) n.1159A>C c.469-680A>C (n.469-680A>C) c.278A>C (p.Glu93Ala) c.647A>C (p.Glu216Ala) c.470A>C (p.Glu157Ala) c.467A>C (p.Glu156Ala) c.299A>C (p.Glu100Ala) | |
| 11 | g.67490317A>G | CA381551468 | AIP | c.624A>G c.458A>G (p.Glu153Gly) n.1159A>G c.469-680A>G (n.469-680A>G) c.278A>G (p.Glu93Gly) c.647A>G (p.Glu216Gly) c.470A>G (p.Glu157Gly) c.467A>G (p.Glu156Gly) c.299A>G (p.Glu100Gly) | |
| 11 | g.67490317A>T | CA381551467 | AIP | c.624A>T c.458A>T (p.Glu153Val) n.1159A>T c.469-680A>T (n.469-680A>T) c.278A>T (p.Glu93Val) c.647A>T (p.Glu216Val) c.470A>T (p.Glu157Val) c.467A>T (p.Glu156Val) c.299A>T (p.Glu100Val) | |
| 11 | g.67490318A>C | CA381551470 | AIP | c.625A>C c.459A>C (p.Glu153Asp) n.1160A>C c.469-679A>C (n.469-679A>C) c.279A>C (p.Glu93Asp) c.648A>C (p.Glu216Asp) c.471A>C (p.Glu157Asp) c.468A>C (p.Glu156Asp) c.300A>C (p.Glu100Asp) | |
| 11 | g.67490318A>G | CA475509176 | AIP | c.625A>G c.459A>G (p.Glu153=) n.1160A>G c.469-679A>G (n.469-679A>G) c.279A>G (p.Glu93=) c.648A>G (p.Glu216=) c.471A>G (p.Glu157=) c.468A>G (p.Glu156=) c.300A>G (p.Glu100=) | |
| 11 | g.67490318A>T | CA381551471 | AIP | c.625A>T c.459A>T (p.Glu153Asp) n.1160A>T c.469-679A>T (n.469-679A>T) c.279A>T (p.Glu93Asp) c.648A>T (p.Glu216Asp) c.471A>T (p.Glu157Asp) c.468A>T (p.Glu156Asp) c.300A>T (p.Glu100Asp) | |
| 11 | g.67490319C>A | CA381551472 | AIP | c.626C>A c.460C>A (p.Gln154Lys) n.1161C>A c.469-678C>A (n.469-678C>A) c.280C>A (p.Gln94Lys) c.649C>A (p.Gln217Lys) c.472C>A (p.Gln158Lys) c.469C>A (p.Gln157Lys) c.301C>A (p.Gln101Lys) | ClinVar |
| 11 | g.67490319C= | CA1980172404 | AIP | c.626C= c.460C= (p.Gln154=) n.1161C= c.469-678C= (n.469-678C=) c.280C= (p.Gln94=) c.649C= (p.Gln217=) c.472C= (p.Gln158=) c.469C= (p.Gln157=) c.301C= (p.Gln101=) | |
| 11 | g.67490319C>G | CA381551473 | AIP | c.626C>G c.460C>G (p.Gln154Glu) n.1161C>G c.469-678C>G (n.469-678C>G) c.280C>G (p.Gln94Glu) c.649C>G (p.Gln217Glu) c.472C>G (p.Gln158Glu) c.469C>G (p.Gln157Glu) c.301C>G (p.Gln101Glu) | ClinVar |
| 11 | g.67490319C>T | CA344146 | AIP | c.626C>T c.460C>T (p.Gln154Ter) n.1161C>T c.469-678C>T (n.469-678C>T) c.280C>T (p.Gln94Ter) c.649C>T (p.Gln217Ter) c.472C>T (p.Gln158Ter) c.469C>T (p.Gln157Ter) c.301C>T (p.Gln101Ter) | ClinVar dbSNP |
| 11 | g.67490320_67490322dup | CA2614623597 | AIP | c.627_629dup c.461_463dup (p.Gln154_Pro155insGln) n.1162_1164dup c.469-677_469-675dup (n.469-677_469-675dup) c.281_283dup (p.Gln94_Pro95insGln) c.650_652dup (p.Gln217_Pro218insGln) c.473_475dup (p.Gln158_Pro159insGln) c.470_472dup (p.Gln157_Pro158insGln) c.302_304dup (p.Gln101_Pro102insGln) | gnomAD v4 |
| 11 | g.67490320A= | CA1980172405 | AIP | c.627A= c.461A= (p.Gln154=) n.1162A= c.469-677A= (n.469-677A=) c.281A= (p.Gln94=) c.650A= (p.Gln217=) c.473A= (p.Gln158=) c.470A= (p.Gln157=) c.302A= (p.Gln101=) | |
| 11 | g.67490320A>C | CA381551474 | AIP | c.627A>C c.461A>C (p.Gln154Pro) n.1162A>C c.469-677A>C (n.469-677A>C) c.281A>C (p.Gln94Pro) c.650A>C (p.Gln217Pro) c.473A>C (p.Gln158Pro) c.470A>C (p.Gln157Pro) c.302A>C (p.Gln101Pro) | |
| 11 | g.67490320A>G | CA381551475 | AIP | c.627A>G c.461A>G (p.Gln154Arg) n.1162A>G c.469-677A>G (n.469-677A>G) c.281A>G (p.Gln94Arg) c.650A>G (p.Gln217Arg) c.473A>G (p.Gln158Arg) c.470A>G (p.Gln157Arg) c.302A>G (p.Gln101Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.67490320A>T | CA381551476 | AIP | c.627A>T c.461A>T (p.Gln154Leu) n.1162A>T c.469-677A>T (n.469-677A>T) c.281A>T (p.Gln94Leu) c.650A>T (p.Gln217Leu) c.473A>T (p.Gln158Leu) c.470A>T (p.Gln157Leu) c.302A>T (p.Gln101Leu) | |
| 11 | g.67490321G>A | CA475509178 | AIP | c.628G>A c.462G>A (p.Gln154=) n.1163G>A c.469-676G>A (n.469-676G>A) c.282G>A (p.Gln94=) c.651G>A (p.Gln217=) c.474G>A (p.Gln158=) c.471G>A (p.Gln157=) c.303G>A (p.Gln101=) | ClinVar |
| 11 | g.67490321G>C | CA381551477 | AIP | c.628G>C c.462G>C (p.Gln154His) n.1163G>C c.469-676G>C (n.469-676G>C) c.282G>C (p.Gln94His) c.651G>C (p.Gln217His) c.474G>C (p.Gln158His) c.471G>C (p.Gln157His) c.303G>C (p.Gln101His) | ClinVar dbSNP |
| 11 | g.67490321G>T | CA381551478 | AIP | c.628G>T c.462G>T (p.Gln154His) n.1163G>T c.469-676G>T (n.469-676G>T) c.282G>T (p.Gln94His) c.651G>T (p.Gln217His) c.474G>T (p.Gln158His) c.471G>T (p.Gln157His) c.303G>T (p.Gln101His) | gnomAD v4 |
| 11 | g.67490322C>A | CA381551479 | AIP | c.629C>A c.463C>A (p.Pro155Thr) n.1164C>A c.469-675C>A (n.469-675C>A) c.283C>A (p.Pro95Thr) c.652C>A (p.Pro218Thr) c.475C>A (p.Pro159Thr) c.472C>A (p.Pro158Thr) c.304C>A (p.Pro102Thr) | |
| 11 | g.67490322C>G | CA381551480 | AIP | c.629C>G c.463C>G (p.Pro155Ala) n.1164C>G c.469-675C>G (n.469-675C>G) c.283C>G (p.Pro95Ala) c.652C>G (p.Pro218Ala) c.475C>G (p.Pro159Ala) c.472C>G (p.Pro158Ala) c.304C>G (p.Pro102Ala) | |
| 11 | g.67490322C>T | CA381551481 | AIP | c.629C>T c.463C>T (p.Pro155Ser) n.1164C>T c.469-675C>T (n.469-675C>T) c.283C>T (p.Pro95Ser) c.652C>T (p.Pro218Ser) c.475C>T (p.Pro159Ser) c.472C>T (p.Pro158Ser) c.304C>T (p.Pro102Ser) | |
| 11 | g.67490323C>A | CA381551484 | AIP | c.630C>A c.464C>A (p.Pro155His) n.1165C>A c.469-674C>A (n.469-674C>A) c.284C>A (p.Pro95His) c.653C>A (p.Pro218His) c.476C>A (p.Pro159His) c.473C>A (p.Pro158His) c.305C>A (p.Pro102His) | |
| 11 | g.67490323C>G | CA381551482 | AIP | c.630C>G c.464C>G (p.Pro155Arg) n.1165C>G c.469-674C>G (n.469-674C>G) c.284C>G (p.Pro95Arg) c.653C>G (p.Pro218Arg) c.476C>G (p.Pro159Arg) c.473C>G (p.Pro158Arg) c.305C>G (p.Pro102Arg) | |
| 11 | g.67490323C>T | CA381551483 | AIP | c.630C>T c.464C>T (p.Pro155Leu) n.1165C>T c.469-674C>T (n.469-674C>T) c.284C>T (p.Pro95Leu) c.653C>T (p.Pro218Leu) c.476C>T (p.Pro159Leu) c.473C>T (p.Pro158Leu) c.305C>T (p.Pro102Leu) | |
| 11 | g.67490324T>A | CA475509180 | AIP | c.631T>A c.465T>A (p.Pro155=) n.1166T>A c.469-673T>A (n.469-673T>A) c.285T>A (p.Pro95=) c.654T>A (p.Pro218=) c.477T>A (p.Pro159=) c.474T>A (p.Pro158=) c.306T>A (p.Pro102=) | |
| 11 | g.67490324T>C | CA475509181 | AIP | c.631T>C c.465T>C (p.Pro155=) n.1166T>C c.469-673T>C (n.469-673T>C) c.285T>C (p.Pro95=) c.654T>C (p.Pro218=) c.477T>C (p.Pro159=) c.474T>C (p.Pro158=) c.306T>C (p.Pro102=) | |
| 11 | g.67490324T>G | CA475509182 | AIP | c.631T>G c.465T>G (p.Pro155=) n.1166T>G c.469-673T>G (n.469-673T>G) c.285T>G (p.Pro95=) c.654T>G (p.Pro218=) c.477T>G (p.Pro159=) c.474T>G (p.Pro158=) c.306T>G (p.Pro102=) | |
| 11 | g.67490325G>A | CA381551485 | AIP | c.632G>A c.466G>A (p.Gly156Arg) n.1167G>A c.469-672G>A (n.469-672G>A) c.286G>A (p.Gly96Arg) c.655G>A (p.Gly219Arg) c.478G>A (p.Gly160Arg) c.475G>A (p.Gly159Arg) c.307G>A (p.Gly103Arg) | |
| 11 | g.67490325G>C | CA381551486 | AIP | c.632G>C c.466G>C (p.Gly156Arg) n.1167G>C c.469-672G>C (n.469-672G>C) c.286G>C (p.Gly96Arg) c.655G>C (p.Gly219Arg) c.478G>C (p.Gly160Arg) c.475G>C (p.Gly159Arg) c.307G>C (p.Gly103Arg) | |
| 11 | g.67490325G>T | CA381551487 | AIP | c.632G>T c.466G>T (p.Gly156Trp) n.1167G>T c.469-672G>T (n.469-672G>T) c.286G>T (p.Gly96Trp) c.655G>T (p.Gly219Trp) c.478G>T (p.Gly160Trp) c.475G>T (p.Gly159Trp) c.307G>T (p.Gly103Trp) | |
| 11 | g.67490326G>A | CA381551488 | AIP | c.633G>A c.467G>A (p.Gly156Glu) n.1168G>A c.469-671G>A (n.469-671G>A) c.287G>A (p.Gly96Glu) c.656G>A (p.Gly219Glu) c.479G>A (p.Gly160Glu) c.476G>A (p.Gly159Glu) c.308G>A (p.Gly103Glu) | |
| 11 | g.67490326G>C | CA381551489 | AIP | c.633G>C c.467G>C (p.Gly156Ala) n.1168G>C c.469-671G>C (n.469-671G>C) c.287G>C (p.Gly96Ala) c.656G>C (p.Gly219Ala) c.479G>C (p.Gly160Ala) c.476G>C (p.Gly159Ala) c.308G>C (p.Gly103Ala) | gnomAD v4 |
| 11 | g.67490326G>T | CA381551490 | AIP | c.633G>T c.467G>T (p.Gly156Val) n.1168G>T c.469-671G>T (n.469-671G>T) c.287G>T (p.Gly96Val) c.656G>T (p.Gly219Val) c.479G>T (p.Gly160Val) c.476G>T (p.Gly159Val) c.308G>T (p.Gly103Val) | COSMIC |
| 11 | g.67490327G>A | CA475509183 | AIP | c.634G>A c.468G>A (p.Gly156=) n.1169G>A c.469-670G>A (n.469-670G>A) c.288G>A (p.Gly96=) c.657G>A (p.Gly219=) c.480G>A (p.Gly160=) c.477G>A (p.Gly159=) c.309G>A (p.Gly103=) | ClinVar |
| 11 | g.67490327G>C | CA475509184 | AIP | c.634G>C c.468G>C (p.Gly156=) n.1169G>C c.469-670G>C (n.469-670G>C) c.288G>C (p.Gly96=) c.657G>C (p.Gly219=) c.480G>C (p.Gly160=) c.477G>C (p.Gly159=) c.309G>C (p.Gly103=) | |
| 11 | g.67490327G>T | CA475509185 | AIP | c.634G>T c.468G>T (p.Gly156=) n.1169G>T c.469-670G>T (n.469-670G>T) c.288G>T (p.Gly96=) c.657G>T (p.Gly219=) c.480G>T (p.Gly160=) c.477G>T (p.Gly159=) c.309G>T (p.Gly103=) | ClinVar gnomAD v4 |
| 11 | g.67490328T>A | CA381551491 | AIP | c.635T>A c.469T>A (p.Ser157Thr) n.1170T>A c.469-669T>A (n.469-669T>A) c.289T>A (p.Ser97Thr) c.658T>A (p.Ser220Thr) c.481T>A (p.Ser161Thr) c.478T>A (p.Ser160Thr) c.310T>A (p.Ser104Thr) | |
| 11 | g.67490328T>C | CA381551492 | AIP | c.635T>C c.469T>C (p.Ser157Pro) n.1170T>C c.469-669T>C (n.469-669T>C) c.289T>C (p.Ser97Pro) c.658T>C (p.Ser220Pro) c.481T>C (p.Ser161Pro) c.478T>C (p.Ser160Pro) c.310T>C (p.Ser104Pro) | |
| 11 | g.67490328T>G | CA381551493 | AIP | c.635T>G c.469T>G (p.Ser157Ala) n.1170T>G c.469-669T>G (n.469-669T>G) c.289T>G (p.Ser97Ala) c.658T>G (p.Ser220Ala) c.481T>G (p.Ser161Ala) c.478T>G (p.Ser160Ala) c.310T>G (p.Ser104Ala) | |
| 11 | g.67490328T= | CA1980172406 | AIP | c.635T= c.469T= (p.Ser157=) n.1170T= c.469-669T= (n.469-669T=) c.289T= (p.Ser97=) c.658T= (p.Ser220=) c.481T= (p.Ser161=) c.478T= (p.Ser160=) c.310T= (p.Ser104=) | |
| 11 | g.67490329C>A | CA381551494 | AIP | c.636C>A c.470C>A (p.Ser157Tyr) n.1171C>A c.469-668C>A (n.469-668C>A) c.290C>A (p.Ser97Tyr) c.659C>A (p.Ser220Tyr) c.482C>A (p.Ser161Tyr) c.479C>A (p.Ser160Tyr) c.311C>A (p.Ser104Tyr) | |
| 11 | g.67490329C= | CA1980172407 | AIP | c.636C= c.470C= (p.Ser157=) n.1171C= c.469-668C= (n.469-668C=) c.290C= (p.Ser97=) c.659C= (p.Ser220=) c.482C= (p.Ser161=) c.479C= (p.Ser160=) c.311C= (p.Ser104=) | |
| 11 | g.67490329C>G | CA381551495 | AIP | c.636C>G c.470C>G (p.Ser157Cys) n.1171C>G c.469-668C>G (n.469-668C>G) c.290C>G (p.Ser97Cys) c.659C>G (p.Ser220Cys) c.482C>G (p.Ser161Cys) c.479C>G (p.Ser160Cys) c.311C>G (p.Ser104Cys) | |
| 11 | g.67490329C>T | CA381551496 | AIP | c.636C>T c.470C>T (p.Ser157Phe) n.1171C>T c.469-668C>T (n.469-668C>T) c.290C>T (p.Ser97Phe) c.659C>T (p.Ser220Phe) c.482C>T (p.Ser161Phe) c.479C>T (p.Ser160Phe) c.311C>T (p.Ser104Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490332dup | CA344150 | AIP | c.639dup c.473dup (p.Glu159Ter) n.1174dup c.469-665dup (n.469-665dup) c.293dup (p.Glu99Ter) c.662dup (p.Glu222Ter) c.485dup (p.Glu163Ter) c.482dup (p.Glu162Ter) c.314dup (p.Glu106Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490330C>A | CA475509189 | AIP | c.637C>A c.471C>A (p.Ser157=) n.1172C>A c.469-667C>A (n.469-667C>A) c.291C>A (p.Ser97=) c.660C>A (p.Ser220=) c.483C>A (p.Ser161=) c.480C>A (p.Ser160=) c.312C>A (p.Ser104=) | dbSNP |
| 11 | g.67490330C= | CA1980172408 | AIP | c.637C= c.471C= (p.Ser157=) n.1172C= c.469-667C= (n.469-667C=) c.291C= (p.Ser97=) c.660C= (p.Ser220=) c.483C= (p.Ser161=) c.480C= (p.Ser160=) c.312C= (p.Ser104=) | |
| 11 | g.67490330C>G | CA475509190 | AIP | c.637C>G c.471C>G (p.Ser157=) n.1172C>G c.469-667C>G (n.469-667C>G) c.291C>G (p.Ser97=) c.660C>G (p.Ser220=) c.483C>G (p.Ser161=) c.480C>G (p.Ser160=) c.312C>G (p.Ser104=) | |
| 11 | g.67490330C>T | CA6140906 | AIP | c.637C>T c.471C>T (p.Ser157=) n.1172C>T c.469-667C>T (n.469-667C>T) c.291C>T (p.Ser97=) c.660C>T (p.Ser220=) c.483C>T (p.Ser161=) c.480C>T (p.Ser160=) c.312C>T (p.Ser104=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.67490331C>A | CA381551498 | AIP | c.638C>A c.472C>A (p.Pro158Thr) n.1173C>A c.469-666C>A (n.469-666C>A) c.292C>A (p.Pro98Thr) c.661C>A (p.Pro221Thr) c.484C>A (p.Pro162Thr) c.481C>A (p.Pro161Thr) c.313C>A (p.Pro105Thr) | |
| 11 | g.67490331C= | CA1980172409 | AIP | c.638C= c.472C= (p.Pro158=) n.1173C= c.469-666C= (n.469-666C=) c.292C= (p.Pro98=) c.661C= (p.Pro221=) c.484C= (p.Pro162=) c.481C= (p.Pro161=) c.313C= (p.Pro105=) | |
| 11 | g.67490331C>G | CA381551497 | AIP | c.638C>G c.472C>G (p.Pro158Ala) n.1173C>G c.469-666C>G (n.469-666C>G) c.292C>G (p.Pro98Ala) c.661C>G (p.Pro221Ala) c.484C>G (p.Pro162Ala) c.481C>G (p.Pro161Ala) c.313C>G (p.Pro105Ala) | |
| 11 | g.67490331C>T | CA381551499 | AIP | c.638C>T c.472C>T (p.Pro158Ser) n.1173C>T c.469-666C>T (n.469-666C>T) c.292C>T (p.Pro98Ser) c.661C>T (p.Pro221Ser) c.484C>T (p.Pro162Ser) c.481C>T (p.Pro161Ser) c.313C>T (p.Pro105Ser) | ClinVar dbSNP |
| 11 | g.67490332C>A | CA381551500 | AIP | c.639C>A c.473C>A (p.Pro158His) n.1174C>A c.469-665C>A (n.469-665C>A) c.293C>A (p.Pro98His) c.662C>A (p.Pro221His) c.485C>A (p.Pro162His) c.482C>A (p.Pro161His) c.314C>A (p.Pro105His) | |
| 11 | g.67490332C= | CA1980172410 | AIP | c.639C= c.473C= (p.Pro158=) n.1174C= c.469-665C= (n.469-665C=) c.293C= (p.Pro98=) c.662C= (p.Pro221=) c.485C= (p.Pro162=) c.482C= (p.Pro161=) c.314C= (p.Pro105=) | |
| 11 | g.67490332C>G | CA381551501 | AIP | c.639C>G c.473C>G (p.Pro158Arg) n.1174C>G c.469-665C>G (n.469-665C>G) c.293C>G (p.Pro98Arg) c.662C>G (p.Pro221Arg) c.485C>G (p.Pro162Arg) c.482C>G (p.Pro161Arg) c.314C>G (p.Pro105Arg) | |
| 11 | g.67490332C>T | CA381551502 | AIP | c.639C>T c.473C>T (p.Pro158Leu) n.1174C>T c.469-665C>T (n.469-665C>T) c.293C>T (p.Pro98Leu) c.662C>T (p.Pro221Leu) c.485C>T (p.Pro162Leu) c.482C>T (p.Pro161Leu) c.314C>T (p.Pro105Leu) | ClinVar dbSNP gnomAD v2 |
| 11 | g.67490332_67490333delinsCT | CA1980172411 | AIP | c.639_640delinsCT c.473_474delinsCT (p.Pro158=) n.1174_1175delinsCT c.469-665_469-664delinsCT (n.469-665_469-664delinsCT) c.293_294delinsCT (p.Pro98=) c.662_663delinsCT (p.Pro221=) c.485_486delinsCT (p.Pro162=) c.482_483delinsCT (p.Pro161=) c.314_315delinsCT (p.Pro105=) | |
| 11 | g.67490333del | CA1139662046 | AIP | c.640del c.474del (p.Glu159AsnfsTer?) n.1175del c.469-664del (n.469-664del) c.294del (p.Glu99AsnfsTer?) c.663del (p.Glu222AsnfsTer?) c.486del (p.Glu163AsnfsTer?) c.483del (p.Glu162AsnfsTer?) c.315del (p.Glu106AsnfsTer?) | ClinVar dbSNP |
| 11 | g.67490333T>A | CA475509191 | AIP | c.640T>A c.474T>A (p.Pro158=) n.1175T>A c.469-664T>A (n.469-664T>A) c.294T>A (p.Pro98=) c.663T>A (p.Pro221=) c.486T>A (p.Pro162=) c.483T>A (p.Pro161=) c.315T>A (p.Pro105=) | |
| 11 | g.67490333T>C | CA475509192 | AIP | c.640T>C c.474T>C (p.Pro158=) n.1175T>C c.469-664T>C (n.469-664T>C) c.294T>C (p.Pro98=) c.663T>C (p.Pro221=) c.486T>C (p.Pro162=) c.483T>C (p.Pro161=) c.315T>C (p.Pro105=) | ClinVar gnomAD v4 |
| 11 | g.67490333T>G | CA475509193 | AIP | c.640T>G c.474T>G (p.Pro158=) n.1175T>G c.469-664T>G (n.469-664T>G) c.294T>G (p.Pro98=) c.663T>G (p.Pro221=) c.486T>G (p.Pro162=) c.483T>G (p.Pro161=) c.315T>G (p.Pro105=) | |
| 11 | g.67490334G>A | CA381551503 | AIP | c.641G>A c.475G>A (p.Glu159Lys) n.1176G>A c.469-663G>A (n.469-663G>A) c.295G>A (p.Glu99Lys) c.664G>A (p.Glu222Lys) c.487G>A (p.Glu163Lys) c.484G>A (p.Glu162Lys) c.316G>A (p.Glu106Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490334G>C | CA381551504 | AIP | c.641G>C c.475G>C (p.Glu159Gln) n.1176G>C c.469-663G>C (n.469-663G>C) c.295G>C (p.Glu99Gln) c.664G>C (p.Glu222Gln) c.487G>C (p.Glu163Gln) c.484G>C (p.Glu162Gln) c.316G>C (p.Glu106Gln) | |
| 11 | g.67490334G= | CA1980172412 | AIP | c.641G= c.475G= (p.Glu159=) n.1176G= c.469-663G= (n.469-663G=) c.295G= (p.Glu99=) c.664G= (p.Glu222=) c.487G= (p.Glu163=) c.484G= (p.Glu162=) c.316G= (p.Glu106=) | |
| 11 | g.67490334G>T | CA381551505 | AIP | c.641G>T c.475G>T (p.Glu159Ter) n.1176G>T c.469-663G>T (n.469-663G>T) c.295G>T (p.Glu99Ter) c.664G>T (p.Glu222Ter) c.487G>T (p.Glu163Ter) c.484G>T (p.Glu162Ter) c.316G>T (p.Glu106Ter) | |
| 11 | g.67490335A>C | CA381551508 | AIP | c.642A>C c.476A>C (p.Glu159Ala) n.1177A>C c.469-662A>C (n.469-662A>C) c.296A>C (p.Glu99Ala) c.665A>C (p.Glu222Ala) c.488A>C (p.Glu163Ala) c.485A>C (p.Glu162Ala) c.317A>C (p.Glu106Ala) | |
| 11 | g.67490335A>G | CA381551506 | AIP | c.642A>G c.476A>G (p.Glu159Gly) n.1177A>G c.469-662A>G (n.469-662A>G) c.296A>G (p.Glu99Gly) c.665A>G (p.Glu222Gly) c.488A>G (p.Glu163Gly) c.485A>G (p.Glu162Gly) c.317A>G (p.Glu106Gly) | |
| 11 | g.67490335A>T | CA381551507 | AIP | c.642A>T c.476A>T (p.Glu159Val) n.1177A>T c.469-662A>T (n.469-662A>T) c.296A>T (p.Glu99Val) c.665A>T (p.Glu222Val) c.488A>T (p.Glu163Val) c.485A>T (p.Glu162Val) c.317A>T (p.Glu106Val) | |
| 11 | g.67490336A>C | CA381551509 | AIP | c.643A>C c.477A>C (p.Glu159Asp) n.1178A>C c.469-661A>C (n.469-661A>C) c.297A>C (p.Glu99Asp) c.666A>C (p.Glu222Asp) c.489A>C (p.Glu163Asp) c.486A>C (p.Glu162Asp) c.318A>C (p.Glu106Asp) | |
| 11 | g.67490336A>G | CA475509195 | AIP | c.643A>G c.477A>G (p.Glu159=) n.1178A>G c.469-661A>G (n.469-661A>G) c.297A>G (p.Glu99=) c.666A>G (p.Glu222=) c.489A>G (p.Glu163=) c.486A>G (p.Glu162=) c.318A>G (p.Glu106=) | ClinVar dbSNP |
| 11 | g.67490336A>T | CA381551510 | AIP | c.643A>T c.477A>T (p.Glu159Asp) n.1178A>T c.469-661A>T (n.469-661A>T) c.297A>T (p.Glu99Asp) c.666A>T (p.Glu222Asp) c.489A>T (p.Glu163Asp) c.486A>T (p.Glu162Asp) c.318A>T (p.Glu106Asp) | gnomAD v4 |
| 11 | g.67490337T>A | CA381551511 | AIP | c.644T>A c.478T>A (p.Trp160Arg) n.1179T>A c.469-660T>A (n.469-660T>A) c.298T>A (p.Trp100Arg) c.667T>A (p.Trp223Arg) c.490T>A (p.Trp164Arg) c.487T>A (p.Trp163Arg) c.319T>A (p.Trp107Arg) | |
| 11 | g.67490337T>C | CA381551512 | AIP | c.644T>C c.478T>C (p.Trp160Arg) n.1179T>C c.469-660T>C (n.469-660T>C) c.298T>C (p.Trp100Arg) c.667T>C (p.Trp223Arg) c.490T>C (p.Trp164Arg) c.487T>C (p.Trp163Arg) c.319T>C (p.Trp107Arg) | |
| 11 | g.67490337T>G | CA381551513 | AIP | c.644T>G c.478T>G (p.Trp160Gly) n.1179T>G c.469-660T>G (n.469-660T>G) c.298T>G (p.Trp100Gly) c.667T>G (p.Trp223Gly) c.490T>G (p.Trp164Gly) c.487T>G (p.Trp163Gly) c.319T>G (p.Trp107Gly) | |
| 11 | g.67490338G>A | CA381551514 | AIP | c.645G>A c.479G>A (p.Trp160Ter) n.1180G>A c.469-659G>A (n.469-659G>A) c.299G>A (p.Trp100Ter) c.668G>A (p.Trp223Ter) c.491G>A (p.Trp164Ter) c.488G>A (p.Trp163Ter) c.320G>A (p.Trp107Ter) | |
| 11 | g.67490338G>C | CA381551516 | AIP | c.645G>C c.479G>C (p.Trp160Ser) n.1180G>C c.469-659G>C (n.469-659G>C) c.299G>C (p.Trp100Ser) c.668G>C (p.Trp223Ser) c.491G>C (p.Trp164Ser) c.488G>C (p.Trp163Ser) c.320G>C (p.Trp107Ser) | ClinVar dbSNP |
| 11 | g.67490338G>T | CA381551515 | AIP | c.645G>T c.479G>T (p.Trp160Leu) n.1180G>T c.469-659G>T (n.469-659G>T) c.299G>T (p.Trp100Leu) c.668G>T (p.Trp223Leu) c.491G>T (p.Trp164Leu) c.488G>T (p.Trp163Leu) c.320G>T (p.Trp107Leu) | |
| 11 | g.67490339G>A | CA381551517 | AIP | c.646G>A c.480G>A (p.Trp160Ter) n.1181G>A c.469-658G>A (n.469-658G>A) c.300G>A (p.Trp100Ter) c.669G>A (p.Trp223Ter) c.492G>A (p.Trp164Ter) c.489G>A (p.Trp163Ter) c.321G>A (p.Trp107Ter) | |
| 11 | g.67490339G>C | CA381551518 | AIP | c.646G>C c.480G>C (p.Trp160Cys) n.1181G>C c.469-658G>C (n.469-658G>C) c.300G>C (p.Trp100Cys) c.669G>C (p.Trp223Cys) c.492G>C (p.Trp164Cys) c.489G>C (p.Trp163Cys) c.321G>C (p.Trp107Cys) | |
| 11 | g.67490339G>T | CA381551519 | AIP | c.646G>T c.480G>T (p.Trp160Cys) n.1181G>T c.469-658G>T (n.469-658G>T) c.300G>T (p.Trp100Cys) c.669G>T (p.Trp223Cys) c.492G>T (p.Trp164Cys) c.489G>T (p.Trp163Cys) c.321G>T (p.Trp107Cys) | gnomAD v4 |
| 11 | g.67490340A>C | CA381551520 | AIP | c.647A>C c.481A>C (p.Ile161Leu) n.1182A>C c.469-657A>C (n.469-657A>C) c.301A>C (p.Ile101Leu) c.670A>C (p.Ile224Leu) c.493A>C (p.Ile165Leu) c.490A>C (p.Ile164Leu) c.322A>C (p.Ile108Leu) | |
| 11 | g.67490340A>G | CA381551522 | AIP | c.647A>G c.481A>G (p.Ile161Val) n.1182A>G c.469-657A>G (n.469-657A>G) c.301A>G (p.Ile101Val) c.670A>G (p.Ile224Val) c.493A>G (p.Ile165Val) c.490A>G (p.Ile164Val) c.322A>G (p.Ile108Val) | ClinVar |
| 11 | g.67490340A>T | CA381551523 | AIP | c.647A>T c.481A>T (p.Ile161Phe) n.1182A>T c.469-657A>T (n.469-657A>T) c.301A>T (p.Ile101Phe) c.670A>T (p.Ile224Phe) c.493A>T (p.Ile165Phe) c.490A>T (p.Ile164Phe) c.322A>T (p.Ile108Phe) | COSMIC |
| 11 | g.67490341T>A | CA381551525 | AIP | c.648T>A c.482T>A (p.Ile161Asn) n.1183T>A c.469-656T>A (n.469-656T>A) c.302T>A (p.Ile101Asn) c.671T>A (p.Ile224Asn) c.494T>A (p.Ile165Asn) c.491T>A (p.Ile164Asn) c.323T>A (p.Ile108Asn) | |
| 11 | g.67490341T>C | CA381551527 | AIP | c.648T>C c.482T>C (p.Ile161Thr) n.1183T>C c.469-656T>C (n.469-656T>C) c.302T>C (p.Ile101Thr) c.671T>C (p.Ile224Thr) c.494T>C (p.Ile165Thr) c.491T>C (p.Ile164Thr) c.323T>C (p.Ile108Thr) | |
| 11 | g.67490341T>G | CA381551529 | AIP | c.648T>G c.482T>G (p.Ile161Ser) n.1183T>G c.469-656T>G (n.469-656T>G) c.302T>G (p.Ile101Ser) c.671T>G (p.Ile224Ser) c.494T>G (p.Ile165Ser) c.491T>G (p.Ile164Ser) c.323T>G (p.Ile108Ser) | |
| 11 | g.67490342C>A | CA475509200 | AIP | c.649C>A c.483C>A (p.Ile161=) n.1184C>A c.469-655C>A (n.469-655C>A) c.303C>A (p.Ile101=) c.672C>A (p.Ile224=) c.495C>A (p.Ile165=) c.492C>A (p.Ile164=) c.324C>A (p.Ile108=) | ClinVar |
| 11 | g.67490342C= | CA1980172413 | AIP | c.649C= c.483C= (p.Ile161=) n.1184C= c.469-655C= (n.469-655C=) c.303C= (p.Ile101=) c.672C= (p.Ile224=) c.495C= (p.Ile165=) c.492C= (p.Ile164=) c.324C= (p.Ile108=) | |
| 11 | g.67490342C>G | CA381551531 | AIP | c.649C>G c.483C>G (p.Ile161Met) n.1184C>G c.469-655C>G (n.469-655C>G) c.303C>G (p.Ile101Met) c.672C>G (p.Ile224Met) c.495C>G (p.Ile165Met) c.492C>G (p.Ile164Met) c.324C>G (p.Ile108Met) | ClinVar |
| 11 | g.67490342C>T | CA475509201 | AIP | c.649C>T c.483C>T (p.Ile161=) n.1184C>T c.469-655C>T (n.469-655C>T) c.303C>T (p.Ile101=) c.672C>T (p.Ile224=) c.495C>T (p.Ile165=) c.492C>T (p.Ile164=) c.324C>T (p.Ile108=) | ClinVar dbSNP gnomAD v2 |
| 11 | g.67490343C>A | CA381551543 | AIP | c.650C>A c.484C>A (p.Gln162Lys) n.1185C>A c.469-654C>A (n.469-654C>A) c.304C>A (p.Gln102Lys) c.673C>A (p.Gln225Lys) c.496C>A (p.Gln166Lys) c.493C>A (p.Gln165Lys) c.325C>A (p.Gln109Lys) | |
| 11 | g.67490343C>G | CA381551542 | AIP | c.650C>G c.484C>G (p.Gln162Glu) n.1185C>G c.469-654C>G (n.469-654C>G) c.304C>G (p.Gln102Glu) c.673C>G (p.Gln225Glu) c.496C>G (p.Gln166Glu) c.493C>G (p.Gln165Glu) c.325C>G (p.Gln109Glu) | |
| 11 | g.67490343C>T | CA381551540 | AIP | c.650C>T c.484C>T (p.Gln162Ter) n.1185C>T c.469-654C>T (n.469-654C>T) c.304C>T (p.Gln102Ter) c.673C>T (p.Gln225Ter) c.496C>T (p.Gln166Ter) c.493C>T (p.Gln165Ter) c.325C>T (p.Gln109Ter) | ClinVar dbSNP |
| 11 | g.67490344A>C | CA381551545 | AIP | c.651A>C c.485A>C (p.Gln162Pro) n.1186A>C c.469-653A>C (n.469-653A>C) c.305A>C (p.Gln102Pro) c.674A>C (p.Gln225Pro) c.497A>C (p.Gln166Pro) c.494A>C (p.Gln165Pro) c.326A>C (p.Gln109Pro) | |
| 11 | g.67490344A>G | CA381551547 | AIP | c.651A>G c.485A>G (p.Gln162Arg) n.1186A>G c.469-653A>G (n.469-653A>G) c.305A>G (p.Gln102Arg) c.674A>G (p.Gln225Arg) c.497A>G (p.Gln166Arg) c.494A>G (p.Gln165Arg) c.326A>G (p.Gln109Arg) | |
| 11 | g.67490344A>T | CA381551548 | AIP | c.651A>T c.485A>T (p.Gln162Leu) n.1186A>T c.469-653A>T (n.469-653A>T) c.305A>T (p.Gln102Leu) c.674A>T (p.Gln225Leu) c.497A>T (p.Gln166Leu) c.494A>T (p.Gln165Leu) c.326A>T (p.Gln109Leu) | |
| 11 | g.67490345G>A | CA6140907 | AIP | c.652G>A c.486G>A (p.Gln162=) n.1187G>A c.469-652G>A (n.469-652G>A) c.306G>A (p.Gln102=) c.675G>A (p.Gln225=) c.498G>A (p.Gln166=) c.495G>A (p.Gln165=) c.327G>A (p.Gln109=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.67490345G>C | CA381551550 | AIP | c.652G>C c.486G>C (p.Gln162His) n.1187G>C c.469-652G>C (n.469-652G>C) c.306G>C (p.Gln102His) c.675G>C (p.Gln225His) c.498G>C (p.Gln166His) c.495G>C (p.Gln165His) c.327G>C (p.Gln109His) | |
| 11 | g.67490345G= | CA1980172414 | AIP | c.652G= c.486G= (p.Gln162=) n.1187G= c.469-652G= (n.469-652G=) c.306G= (p.Gln102=) c.675G= (p.Gln225=) c.498G= (p.Gln166=) c.495G= (p.Gln165=) c.327G= (p.Gln109=) | |
| 11 | g.67490345G>T | CA381551551 | AIP | c.652G>T c.486G>T (p.Gln162His) n.1187G>T c.469-652G>T (n.469-652G>T) c.306G>T (p.Gln102His) c.675G>T (p.Gln225His) c.498G>T (p.Gln166His) c.495G>T (p.Gln165His) c.327G>T (p.Gln109His) | gnomAD v4 |
| 11 | g.67490346C>A | CA381551553 | AIP | c.653C>A c.487C>A (p.Leu163Met) n.1188C>A c.469-651C>A (n.469-651C>A) c.307C>A (p.Leu103Met) c.676C>A (p.Leu226Met) c.499C>A (p.Leu167Met) c.496C>A (p.Leu166Met) c.328C>A (p.Leu110Met) | |
| 11 | g.67490346C= | CA1980172415 | AIP | c.653C= c.487C= (p.Leu163=) n.1188C= c.469-651C= (n.469-651C=) c.307C= (p.Leu103=) c.676C= (p.Leu226=) c.499C= (p.Leu167=) c.496C= (p.Leu166=) c.328C= (p.Leu110=) | |
| 11 | g.67490346C>G | CA6140908 | AIP | c.653C>G c.487C>G (p.Leu163Val) n.1188C>G c.469-651C>G (n.469-651C>G) c.307C>G (p.Leu103Val) c.676C>G (p.Leu226Val) c.499C>G (p.Leu167Val) c.496C>G (p.Leu166Val) c.328C>G (p.Leu110Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.67490346C>T | CA475509203 | AIP | c.653C>T c.487C>T (p.Leu163=) n.1188C>T c.469-651C>T (n.469-651C>T) c.307C>T (p.Leu103=) c.676C>T (p.Leu226=) c.499C>T (p.Leu167=) c.496C>T (p.Leu166=) c.328C>T (p.Leu110=) | gnomAD v4 |
| 11 | g.67490347T>A | CA381551555 | AIP | c.654T>A c.488T>A (p.Leu163Gln) n.1189T>A c.469-650T>A (n.469-650T>A) c.308T>A (p.Leu103Gln) c.677T>A (p.Leu226Gln) c.500T>A (p.Leu167Gln) c.497T>A (p.Leu166Gln) c.329T>A (p.Leu110Gln) | |
| 11 | g.67490347T>C | CA381551558 | AIP | c.654T>C c.488T>C (p.Leu163Pro) n.1189T>C c.469-650T>C (n.469-650T>C) c.308T>C (p.Leu103Pro) c.677T>C (p.Leu226Pro) c.500T>C (p.Leu167Pro) c.497T>C (p.Leu166Pro) c.329T>C (p.Leu110Pro) | |
| 11 | g.67490347T>G | CA381551560 | AIP | c.654T>G c.488T>G (p.Leu163Arg) n.1189T>G c.469-650T>G (n.469-650T>G) c.308T>G (p.Leu103Arg) c.677T>G (p.Leu226Arg) c.500T>G (p.Leu167Arg) c.497T>G (p.Leu166Arg) c.329T>G (p.Leu110Arg) | |
| 11 | g.67490348G>A | CA475509205 | AIP | c.655G>A c.489G>A (p.Leu163=) n.1190G>A c.469-649G>A (n.469-649G>A) c.309G>A (p.Leu103=) c.678G>A (p.Leu226=) c.501G>A (p.Leu167=) c.498G>A (p.Leu166=) c.330G>A (p.Leu110=) | |
| 11 | g.67490348G>C | CA475509206 | AIP | c.655G>C c.489G>C (p.Leu163=) n.1190G>C c.469-649G>C (n.469-649G>C) c.309G>C (p.Leu103=) c.678G>C (p.Leu226=) c.501G>C (p.Leu167=) c.498G>C (p.Leu166=) c.330G>C (p.Leu110=) | |
| 11 | g.67490348G>T | CA475509207 | AIP | c.655G>T c.489G>T (p.Leu163=) n.1190G>T c.469-649G>T (n.469-649G>T) c.309G>T (p.Leu103=) c.678G>T (p.Leu226=) c.501G>T (p.Leu167=) c.498G>T (p.Leu166=) c.330G>T (p.Leu110=) | gnomAD v4 |
| 11 | g.67490349G>A | CA381551563 | AIP | c.656G>A c.490G>A (p.Asp164Asn) n.1191G>A c.469-648G>A (n.469-648G>A) c.310G>A (p.Asp104Asn) c.679G>A (p.Asp227Asn) c.502G>A (p.Asp168Asn) c.499G>A (p.Asp167Asn) c.331G>A (p.Asp111Asn) | |
| 11 | g.67490349G>C | CA381551565 | AIP | c.656G>C c.490G>C (p.Asp164His) n.1191G>C c.469-648G>C (n.469-648G>C) c.310G>C (p.Asp104His) c.679G>C (p.Asp227His) c.502G>C (p.Asp168His) c.499G>C (p.Asp167His) c.331G>C (p.Asp111His) | |
| 11 | g.67490349G>T | CA381551567 | AIP | c.656G>T c.490G>T (p.Asp164Tyr) n.1191G>T c.469-648G>T (n.469-648G>T) c.310G>T (p.Asp104Tyr) c.679G>T (p.Asp227Tyr) c.502G>T (p.Asp168Tyr) c.499G>T (p.Asp167Tyr) c.331G>T (p.Asp111Tyr) | gnomAD v4 |
| 11 | g.67490350A>C | CA381551569 | AIP | c.657A>C c.491A>C (p.Asp164Ala) n.1192A>C c.469-647A>C (n.469-647A>C) c.311A>C (p.Asp104Ala) c.680A>C (p.Asp227Ala) c.503A>C (p.Asp168Ala) c.500A>C (p.Asp167Ala) c.332A>C (p.Asp111Ala) | |
| 11 | g.67490350A>G | CA381551572 | AIP | c.657A>G c.491A>G (p.Asp164Gly) n.1192A>G c.469-647A>G (n.469-647A>G) c.311A>G (p.Asp104Gly) c.680A>G (p.Asp227Gly) c.503A>G (p.Asp168Gly) c.500A>G (p.Asp167Gly) c.332A>G (p.Asp111Gly) | |
| 11 | g.67490350A>T | CA381551571 | AIP | c.657A>T c.491A>T (p.Asp164Val) n.1192A>T c.469-647A>T (n.469-647A>T) c.311A>T (p.Asp104Val) c.680A>T (p.Asp227Val) c.503A>T (p.Asp168Val) c.500A>T (p.Asp167Val) c.332A>T (p.Asp111Val) | gnomAD v4 |
| 11 | g.67490351C>A | CA381551577 | AIP | c.658C>A c.492C>A (p.Asp164Glu) n.1193C>A c.469-646C>A (n.469-646C>A) c.312C>A (p.Asp104Glu) c.681C>A (p.Asp227Glu) c.504C>A (p.Asp168Glu) c.501C>A (p.Asp167Glu) c.333C>A (p.Asp111Glu) | |
| 11 | g.67490351C>G | CA381551579 | AIP | c.658C>G c.492C>G (p.Asp164Glu) n.1193C>G c.469-646C>G (n.469-646C>G) c.312C>G (p.Asp104Glu) c.681C>G (p.Asp227Glu) c.504C>G (p.Asp168Glu) c.501C>G (p.Asp167Glu) c.333C>G (p.Asp111Glu) | |
| 11 | g.67490351C>T | CA475509208 | AIP | c.658C>T c.492C>T (p.Asp164=) n.1193C>T c.469-646C>T (n.469-646C>T) c.312C>T (p.Asp104=) c.681C>T (p.Asp227=) c.504C>T (p.Asp168=) c.501C>T (p.Asp167=) c.333C>T (p.Asp111=) | |
| 11 | g.67490352C>A | CA6140909 | AIP | c.659C>A c.493C>A (p.Gln165Lys) n.1194C>A c.469-645C>A (n.469-645C>A) c.313C>A (p.Gln105Lys) c.682C>A (p.Gln228Lys) c.505C>A (p.Gln169Lys) c.502C>A (p.Gln168Lys) c.334C>A (p.Gln112Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490352C= | CA1980172416 | AIP | c.659C= c.493C= (p.Gln165=) n.1194C= c.469-645C= (n.469-645C=) c.313C= (p.Gln105=) c.682C= (p.Gln228=) c.505C= (p.Gln169=) c.502C= (p.Gln168=) c.334C= (p.Gln112=) | |
| 11 | g.67490352C>G | CA381551580 | AIP | c.659C>G c.493C>G (p.Gln165Glu) n.1194C>G c.469-645C>G (n.469-645C>G) c.313C>G (p.Gln105Glu) c.682C>G (p.Gln228Glu) c.505C>G (p.Gln169Glu) c.502C>G (p.Gln168Glu) c.334C>G (p.Gln112Glu) | ClinVar |
| 11 | g.67490352C>T | CA381551581 | AIP | c.659C>T c.493C>T (p.Gln165Ter) n.1194C>T c.469-645C>T (n.469-645C>T) c.313C>T (p.Gln105Ter) c.682C>T (p.Gln228Ter) c.505C>T (p.Gln169Ter) c.502C>T (p.Gln168Ter) c.334C>T (p.Gln112Ter) | gnomAD v3 gnomAD v4 |
| 11 | g.67490352_67490354delinsAAA | CA2580084748 | AIP | c.659_661delinsAAA c.493_495delinsAAA (p.Gln165Lys) n.1194_1196delinsAAA c.469-645_469-643delinsAAA (n.469-645_469-643delinsAAA) c.313_315delinsAAA (p.Gln105Lys) c.682_684delinsAAA (p.Gln228Lys) c.505_507delinsAAA (p.Gln169Lys) c.502_504delinsAAA (p.Gln168Lys) c.334_336delinsAAA (p.Gln112Lys) | ClinVar |
| 11 | g.67490353A>C | CA381551583 | AIP | c.660A>C c.494A>C (p.Gln165Pro) n.1195A>C c.469-644A>C (n.469-644A>C) c.314A>C (p.Gln105Pro) c.683A>C (p.Gln228Pro) c.506A>C (p.Gln169Pro) c.503A>C (p.Gln168Pro) c.335A>C (p.Gln112Pro) | |
| 11 | g.67490353A>G | CA381551585 | AIP | c.660A>G c.494A>G (p.Gln165Arg) n.1195A>G c.469-644A>G (n.469-644A>G) c.314A>G (p.Gln105Arg) c.683A>G (p.Gln228Arg) c.506A>G (p.Gln169Arg) c.503A>G (p.Gln168Arg) c.335A>G (p.Gln112Arg) | |
| 11 | g.67490353A>T | CA381551586 | AIP | c.660A>T c.494A>T (p.Gln165Leu) n.1195A>T c.469-644A>T (n.469-644A>T) c.314A>T (p.Gln105Leu) c.683A>T (p.Gln228Leu) c.506A>T (p.Gln169Leu) c.503A>T (p.Gln168Leu) c.335A>T (p.Gln112Leu) | |
| 11 | g.67490354G>A | CA475509211 | AIP | c.661G>A c.495G>A (p.Gln165=) n.1196G>A c.469-643G>A (n.469-643G>A) c.315G>A (p.Gln105=) c.684G>A (p.Gln228=) c.507G>A (p.Gln169=) c.504G>A (p.Gln168=) c.336G>A (p.Gln112=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490354G>C | CA381551589 | AIP | c.661G>C c.495G>C (p.Gln165His) n.1196G>C c.469-643G>C (n.469-643G>C) c.315G>C (p.Gln105His) c.684G>C (p.Gln228His) c.507G>C (p.Gln169His) c.504G>C (p.Gln168His) c.336G>C (p.Gln112His) | |
| 11 | g.67490354G= | CA1980172417 | AIP | c.661G= c.495G= (p.Gln165=) n.1196G= c.469-643G= (n.469-643G=) c.315G= (p.Gln105=) c.684G= (p.Gln228=) c.507G= (p.Gln169=) c.504G= (p.Gln168=) c.336G= (p.Gln112=) | |
| 11 | g.67490354G>T | CA381551592 | AIP | c.661G>T c.495G>T (p.Gln165His) n.1196G>T c.469-643G>T (n.469-643G>T) c.315G>T (p.Gln105His) c.684G>T (p.Gln228His) c.507G>T (p.Gln169His) c.504G>T (p.Gln168His) c.336G>T (p.Gln112His) | |
| 11 | g.67490355C>A | CA381551603 | AIP | c.662C>A c.496C>A (p.Gln166Lys) n.1197C>A c.469-642C>A (n.469-642C>A) c.316C>A (p.Gln106Lys) c.685C>A (p.Gln229Lys) c.508C>A (p.Gln170Lys) c.505C>A (p.Gln169Lys) c.337C>A (p.Gln113Lys) | |
| 11 | g.67490355C= | CA1980172418 | AIP | c.662C= c.496C= (p.Gln166=) n.1197C= c.469-642C= (n.469-642C=) c.316C= (p.Gln106=) c.685C= (p.Gln229=) c.508C= (p.Gln170=) c.505C= (p.Gln169=) c.337C= (p.Gln113=) | |
| 11 | g.67490355C>G | CA381551601 | AIP | c.662C>G c.496C>G (p.Gln166Glu) n.1197C>G c.469-642C>G (n.469-642C>G) c.316C>G (p.Gln106Glu) c.685C>G (p.Gln229Glu) c.508C>G (p.Gln170Glu) c.505C>G (p.Gln169Glu) c.337C>G (p.Gln113Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490355C>T | CA381551597 | AIP | c.662C>T c.496C>T (p.Gln166Ter) n.1197C>T c.469-642C>T (n.469-642C>T) c.316C>T (p.Gln106Ter) c.685C>T (p.Gln229Ter) c.508C>T (p.Gln170Ter) c.505C>T (p.Gln169Ter) c.337C>T (p.Gln113Ter) | ClinVar dbSNP |
| 11 | g.67490356A>C | CA381551605 | AIP | c.663A>C c.497A>C (p.Gln166Pro) n.1198A>C c.469-641A>C (n.469-641A>C) c.317A>C (p.Gln106Pro) c.686A>C (p.Gln229Pro) c.509A>C (p.Gln170Pro) c.506A>C (p.Gln169Pro) c.338A>C (p.Gln113Pro) | |
| 11 | g.67490356A>G | CA381551611 | AIP | c.663A>G c.497A>G (p.Gln166Arg) n.1198A>G c.469-641A>G (n.469-641A>G) c.317A>G (p.Gln106Arg) c.686A>G (p.Gln229Arg) c.509A>G (p.Gln170Arg) c.506A>G (p.Gln169Arg) c.338A>G (p.Gln113Arg) | |
| 11 | g.67490356A>T | CA381551608 | AIP | c.663A>T c.497A>T (p.Gln166Leu) n.1198A>T c.469-641A>T (n.469-641A>T) c.317A>T (p.Gln106Leu) c.686A>T (p.Gln229Leu) c.509A>T (p.Gln170Leu) c.506A>T (p.Gln169Leu) c.338A>T (p.Gln113Leu) | |
| 11 | g.67490357G>A | CA475509212 | AIP | c.664G>A c.498G>A (p.Gln166=) n.1199G>A c.469-640G>A (n.469-640G>A) c.318G>A (p.Gln106=) c.687G>A (p.Gln229=) c.510G>A (p.Gln170=) c.507G>A (p.Gln169=) c.339G>A (p.Gln113=) | |
| 11 | g.67490357G>C | CA381551614 | AIP | c.664G>C c.498G>C (p.Gln166His) n.1199G>C c.469-640G>C (n.469-640G>C) c.318G>C (p.Gln106His) c.687G>C (p.Gln229His) c.510G>C (p.Gln170His) c.507G>C (p.Gln169His) c.339G>C (p.Gln113His) | |
| 11 | g.67490357G>T | CA381551615 | AIP | c.664G>T c.498G>T (p.Gln166His) n.1199G>T c.469-640G>T (n.469-640G>T) c.318G>T (p.Gln106His) c.687G>T (p.Gln229His) c.510G>T (p.Gln170His) c.507G>T (p.Gln169His) c.339G>T (p.Gln113His) | gnomAD v4 |
| 11 | g.67490358A= | CA1980172419 | AIP | c.665A= c.499A= (p.Ile167=) n.1200A= c.469-639A= (n.469-639A=) c.319A= (p.Ile107=) c.688A= (p.Ile230=) c.511A= (p.Ile171=) c.508A= (p.Ile170=) c.340A= (p.Ile114=) | |
| 11 | g.67490358A>C | CA381551621 | AIP | c.665A>C c.499A>C (p.Ile167Leu) n.1200A>C c.469-639A>C (n.469-639A>C) c.319A>C (p.Ile107Leu) c.688A>C (p.Ile230Leu) c.511A>C (p.Ile171Leu) c.508A>C (p.Ile170Leu) c.340A>C (p.Ile114Leu) | |
| 11 | g.67490358A>G | CA381551622 | AIP | c.665A>G c.499A>G (p.Ile167Val) n.1200A>G c.469-639A>G (n.469-639A>G) c.319A>G (p.Ile107Val) c.688A>G (p.Ile230Val) c.511A>G (p.Ile171Val) c.508A>G (p.Ile170Val) c.340A>G (p.Ile114Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490358A>T | CA381551623 | AIP | c.665A>T c.499A>T (p.Ile167Phe) n.1200A>T c.469-639A>T (n.469-639A>T) c.319A>T (p.Ile107Phe) c.688A>T (p.Ile230Phe) c.511A>T (p.Ile171Phe) c.508A>T (p.Ile170Phe) c.340A>T (p.Ile114Phe) | |
| 11 | g.67490359T>A | CA381551626 | AIP | c.666T>A c.500T>A (p.Ile167Asn) n.1201T>A c.469-638T>A (n.469-638T>A) c.320T>A (p.Ile107Asn) c.689T>A (p.Ile230Asn) c.512T>A (p.Ile171Asn) c.509T>A (p.Ile170Asn) c.341T>A (p.Ile114Asn) | |
| 11 | g.67490359T>C | CA381551629 | AIP | c.666T>C c.500T>C (p.Ile167Thr) n.1201T>C c.469-638T>C (n.469-638T>C) c.320T>C (p.Ile107Thr) c.689T>C (p.Ile230Thr) c.512T>C (p.Ile171Thr) c.509T>C (p.Ile170Thr) c.341T>C (p.Ile114Thr) | |
| 11 | g.67490359T>G | CA381551638 | AIP | c.666T>G c.500T>G (p.Ile167Ser) n.1201T>G c.469-638T>G (n.469-638T>G) c.320T>G (p.Ile107Ser) c.689T>G (p.Ile230Ser) c.512T>G (p.Ile171Ser) c.509T>G (p.Ile170Ser) c.341T>G (p.Ile114Ser) | |
| 11 | g.67490360C>A | CA475509214 | AIP | c.667C>A c.501C>A (p.Ile167=) n.1202C>A c.469-637C>A (n.469-637C>A) c.321C>A (p.Ile107=) c.690C>A (p.Ile230=) c.513C>A (p.Ile171=) c.510C>A (p.Ile170=) c.342C>A (p.Ile114=) | |
| 11 | g.67490360C>G | CA381551639 | AIP | c.667C>G c.501C>G (p.Ile167Met) n.1202C>G c.469-637C>G (n.469-637C>G) c.321C>G (p.Ile107Met) c.690C>G (p.Ile230Met) c.513C>G (p.Ile171Met) c.510C>G (p.Ile170Met) c.342C>G (p.Ile114Met) | |
| 11 | g.67490360C>T | CA475509215 | AIP | c.667C>T c.501C>T (p.Ile167=) n.1202C>T c.469-637C>T (n.469-637C>T) c.321C>T (p.Ile107=) c.690C>T (p.Ile230=) c.513C>T (p.Ile171=) c.510C>T (p.Ile170=) c.342C>T (p.Ile114=) | |
| 11 | g.67490361A= | CA1980172420 | AIP | c.668A= c.502A= (p.Thr168=) n.1203A= c.469-636A= (n.469-636A=) c.322A= (p.Thr108=) c.691A= (p.Thr231=) c.514A= (p.Thr172=) c.511A= (p.Thr171=) c.343A= (p.Thr115=) | |
| 11 | g.67490361A>C | CA381551640 | AIP | c.668A>C c.502A>C (p.Thr168Pro) n.1203A>C c.469-636A>C (n.469-636A>C) c.322A>C (p.Thr108Pro) c.691A>C (p.Thr231Pro) c.514A>C (p.Thr172Pro) c.511A>C (p.Thr171Pro) c.343A>C (p.Thr115Pro) | |
| 11 | g.67490361A>G | CA381551641 | AIP | c.668A>G c.502A>G (p.Thr168Ala) n.1203A>G c.469-636A>G (n.469-636A>G) c.322A>G (p.Thr108Ala) c.691A>G (p.Thr231Ala) c.514A>G (p.Thr172Ala) c.511A>G (p.Thr171Ala) c.343A>G (p.Thr115Ala) | COSMIC |
| 11 | g.67490361A>T | CA6140910 | AIP | c.668A>T c.502A>T (p.Thr168Ser) n.1203A>T c.469-636A>T (n.469-636A>T) c.322A>T (p.Thr108Ser) c.691A>T (p.Thr231Ser) c.514A>T (p.Thr172Ser) c.511A>T (p.Thr171Ser) c.343A>T (p.Thr115Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.67490362C>A | CA381551648 | AIP | c.669C>A c.503C>A (p.Thr168Lys) n.1204C>A c.469-635C>A (n.469-635C>A) c.323C>A (p.Thr108Lys) c.692C>A (p.Thr231Lys) c.515C>A (p.Thr172Lys) c.512C>A (p.Thr171Lys) c.344C>A (p.Thr115Lys) | |
| 11 | g.67490362C= | CA1980172421 | AIP | c.669C= c.503C= (p.Thr168=) n.1204C= c.469-635C= (n.469-635C=) c.323C= (p.Thr108=) c.692C= (p.Thr231=) c.515C= (p.Thr172=) c.512C= (p.Thr171=) c.344C= (p.Thr115=) | |
| 11 | g.67490362C>G | CA381551646 | AIP | c.669C>G c.503C>G (p.Thr168Arg) n.1204C>G c.469-635C>G (n.469-635C>G) c.323C>G (p.Thr108Arg) c.692C>G (p.Thr231Arg) c.515C>G (p.Thr172Arg) c.512C>G (p.Thr171Arg) c.344C>G (p.Thr115Arg) | |
| 11 | g.67490362C>T | CA6140911 | AIP | c.669C>T c.503C>T (p.Thr168Met) n.1204C>T c.469-635C>T (n.469-635C>T) c.323C>T (p.Thr108Met) c.692C>T (p.Thr231Met) c.515C>T (p.Thr172Met) c.512C>T (p.Thr171Met) c.344C>T (p.Thr115Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.67490365_67490367dup | CA939069734 | AIP | c.672_674dup c.506_508dup (p.Pro169_Leu170insPro) n.1207_1209dup c.469-632_469-630dup (n.469-632_469-630dup) c.326_328dup (p.Pro109_Leu110insPro) c.695_697dup (p.Pro232_Leu233insPro) c.518_520dup (p.Pro173_Leu174insPro) c.515_517dup (p.Pro172_Leu173insPro) c.347_349dup (p.Pro116_Leu117insPro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.67490363G>A | CA6140912 | AIP | c.670G>A c.504G>A (p.Thr168=) n.1205G>A c.469-634G>A (n.469-634G>A) c.324G>A (p.Thr108=) c.693G>A (p.Thr231=) c.516G>A (p.Thr172=) c.513G>A (p.Thr171=) c.345G>A (p.Thr115=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490363G>C | CA475509219 | AIP | c.670G>C c.504G>C (p.Thr168=) n.1205G>C c.469-634G>C (n.469-634G>C) c.324G>C (p.Thr108=) c.693G>C (p.Thr231=) c.516G>C (p.Thr172=) c.513G>C (p.Thr171=) c.345G>C (p.Thr115=) | |
| 11 | g.67490363G= | CA1980172422 | AIP | c.670G= c.504G= (p.Thr168=) n.1205G= c.469-634G= (n.469-634G=) c.324G= (p.Thr108=) c.693G= (p.Thr231=) c.516G= (p.Thr172=) c.513G= (p.Thr171=) c.345G= (p.Thr115=) | |
| 11 | g.67490363G>T | CA475509220 | AIP | c.670G>T c.504G>T (p.Thr168=) n.1205G>T c.469-634G>T (n.469-634G>T) c.324G>T (p.Thr108=) c.693G>T (p.Thr231=) c.516G>T (p.Thr172=) c.513G>T (p.Thr171=) c.345G>T (p.Thr115=) | gnomAD v4 |
| 11 | g.67490364C>A | CA381551650 | AIP | c.671C>A c.505C>A (p.Pro169Thr) n.1206C>A c.469-633C>A (n.469-633C>A) c.325C>A (p.Pro109Thr) c.694C>A (p.Pro232Thr) c.517C>A (p.Pro173Thr) c.514C>A (p.Pro172Thr) c.346C>A (p.Pro116Thr) | |
| 11 | g.67490364C>G | CA381551651 | AIP | c.671C>G c.505C>G (p.Pro169Ala) n.1206C>G c.469-633C>G (n.469-633C>G) c.325C>G (p.Pro109Ala) c.694C>G (p.Pro232Ala) c.517C>G (p.Pro173Ala) c.514C>G (p.Pro172Ala) c.346C>G (p.Pro116Ala) | |
| 11 | g.67490364C>T | CA381551652 | AIP | c.671C>T c.505C>T (p.Pro169Ser) n.1206C>T c.469-633C>T (n.469-633C>T) c.325C>T (p.Pro109Ser) c.694C>T (p.Pro232Ser) c.517C>T (p.Pro173Ser) c.514C>T (p.Pro172Ser) c.346C>T (p.Pro116Ser) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490365C>A | CA381551655 | AIP | c.672C>A c.506C>A (p.Pro169Gln) n.1207C>A c.469-632C>A (n.469-632C>A) c.326C>A (p.Pro109Gln) c.695C>A (p.Pro232Gln) c.518C>A (p.Pro173Gln) c.515C>A (p.Pro172Gln) c.347C>A (p.Pro116Gln) | gnomAD v4 |
| 11 | g.67490365C= | CA1980172423 | AIP | c.672C= c.506C= (p.Pro169=) n.1207C= c.469-632C= (n.469-632C=) c.326C= (p.Pro109=) c.695C= (p.Pro232=) c.518C= (p.Pro173=) c.515C= (p.Pro172=) c.347C= (p.Pro116=) | |
| 11 | g.67490365C>G | CA381551657 | AIP | c.672C>G c.506C>G (p.Pro169Arg) n.1207C>G c.469-632C>G (n.469-632C>G) c.326C>G (p.Pro109Arg) c.695C>G (p.Pro232Arg) c.518C>G (p.Pro173Arg) c.515C>G (p.Pro172Arg) c.347C>G (p.Pro116Arg) | |
| 11 | g.67490365C>T | CA6140913 | AIP | c.672C>T c.506C>T (p.Pro169Leu) n.1207C>T c.469-632C>T (n.469-632C>T) c.326C>T (p.Pro109Leu) c.695C>T (p.Pro232Leu) c.518C>T (p.Pro173Leu) c.515C>T (p.Pro172Leu) c.347C>T (p.Pro116Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.67490366G>A | CA6140914 | AIP | c.673G>A c.507G>A (p.Pro169=) n.1208G>A c.469-631G>A (n.469-631G>A) c.327G>A (p.Pro109=) c.696G>A (p.Pro232=) c.519G>A (p.Pro173=) c.516G>A (p.Pro172=) c.348G>A (p.Pro116=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490366G>C | CA475509221 | AIP | c.673G>C c.507G>C (p.Pro169=) n.1208G>C c.469-631G>C (n.469-631G>C) c.327G>C (p.Pro109=) c.696G>C (p.Pro232=) c.519G>C (p.Pro173=) c.516G>C (p.Pro172=) c.348G>C (p.Pro116=) | ClinVar dbSNP |
| 11 | g.67490366G= | CA1980172424 | AIP | c.673G= c.507G= (p.Pro169=) n.1208G= c.469-631G= (n.469-631G=) c.327G= (p.Pro109=) c.696G= (p.Pro232=) c.519G= (p.Pro173=) c.516G= (p.Pro172=) c.348G= (p.Pro116=) | |
| 11 | g.67490366G>T | CA475509222 | AIP | c.673G>T c.507G>T (p.Pro169=) n.1208G>T c.469-631G>T (n.469-631G>T) c.327G>T (p.Pro109=) c.696G>T (p.Pro232=) c.519G>T (p.Pro173=) c.516G>T (p.Pro172=) c.348G>T (p.Pro116=) | |
| 11 | g.67490367C>A | CA381551660 | AIP | c.674C>A c.508C>A (p.Leu170Met) n.1209C>A c.469-630C>A (n.469-630C>A) c.328C>A (p.Leu110Met) c.697C>A (p.Leu233Met) c.520C>A (p.Leu174Met) c.517C>A (p.Leu173Met) c.349C>A (p.Leu117Met) | |
| 11 | g.67490367C= | CA1980172425 | AIP | c.674C= c.508C= (p.Leu170=) n.1209C= c.469-630C= (n.469-630C=) c.328C= (p.Leu110=) c.697C= (p.Leu233=) c.520C= (p.Leu174=) c.517C= (p.Leu173=) c.349C= (p.Leu117=) | |
| 11 | g.67490367C>G | CA381551662 | AIP | c.674C>G c.508C>G (p.Leu170Val) n.1209C>G c.469-630C>G (n.469-630C>G) c.328C>G (p.Leu110Val) c.697C>G (p.Leu233Val) c.520C>G (p.Leu174Val) c.517C>G (p.Leu173Val) c.349C>G (p.Leu117Val) | |
| 11 | g.67490367C>T | CA475509223 | AIP | c.674C>T c.508C>T (p.Leu170=) n.1209C>T c.469-630C>T (n.469-630C>T) c.328C>T (p.Leu110=) c.697C>T (p.Leu233=) c.520C>T (p.Leu174=) c.517C>T (p.Leu173=) c.349C>T (p.Leu117=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490368T>A | CA381551664 | AIP | c.675T>A c.509T>A (p.Leu170Gln) n.1210T>A c.469-629T>A (n.469-629T>A) c.329T>A (p.Leu110Gln) c.698T>A (p.Leu233Gln) c.521T>A (p.Leu174Gln) c.518T>A (p.Leu173Gln) c.350T>A (p.Leu117Gln) | |
| 11 | g.67490368T>C | CA381551665 | AIP | c.675T>C c.509T>C (p.Leu170Pro) n.1210T>C c.469-629T>C (n.469-629T>C) c.329T>C (p.Leu110Pro) c.698T>C (p.Leu233Pro) c.521T>C (p.Leu174Pro) c.518T>C (p.Leu173Pro) c.350T>C (p.Leu117Pro) | ClinVar |
| 11 | g.67490368T>G | CA381551667 | AIP | c.675T>G c.509T>G (p.Leu170Arg) n.1210T>G c.469-629T>G (n.469-629T>G) c.329T>G (p.Leu110Arg) c.698T>G (p.Leu233Arg) c.521T>G (p.Leu174Arg) c.518T>G (p.Leu173Arg) c.350T>G (p.Leu117Arg) | |
| 11 | g.67490369G>A | CA475509225 | AIP | c.676G>A c.510G>A (p.Leu170=) n.1211G>A c.469-628G>A (n.469-628G>A) c.330G>A (p.Leu110=) c.699G>A (p.Leu233=) c.522G>A (p.Leu174=) c.519G>A (p.Leu173=) c.351G>A (p.Leu117=) | dbSNP gnomAD v2 |
| 11 | g.67490369G>C | CA475509226 | AIP | c.676G>C c.510G>C (p.Leu170=) n.1211G>C c.469-628G>C (n.469-628G>C) c.330G>C (p.Leu110=) c.699G>C (p.Leu233=) c.522G>C (p.Leu174=) c.519G>C (p.Leu173=) c.351G>C (p.Leu117=) | |
| 11 | g.67490369G= | CA1980172426 | AIP | c.676G= c.510G= (p.Leu170=) n.1211G= c.469-628G= (n.469-628G=) c.330G= (p.Leu110=) c.699G= (p.Leu233=) c.522G= (p.Leu174=) c.519G= (p.Leu173=) c.351G= (p.Leu117=) | |
| 11 | g.67490369G>T | CA475509227 | AIP | c.676G>T c.510G>T (p.Leu170=) n.1211G>T c.469-628G>T (n.469-628G>T) c.330G>T (p.Leu110=) c.699G>T (p.Leu233=) c.522G>T (p.Leu174=) c.519G>T (p.Leu173=) c.351G>T (p.Leu117=) | |
| 11 | g.67490370C>A | CA381551669 | AIP | c.677C>A c.511C>A (p.Leu171Met) n.1212C>A c.469-627C>A (n.469-627C>A) c.331C>A (p.Leu111Met) c.700C>A (p.Leu234Met) c.523C>A (p.Leu175Met) c.520C>A (p.Leu174Met) c.352C>A (p.Leu118Met) | dbSNP |
| 11 | g.67490370C= | CA1980172427 | AIP | c.677C= c.511C= (p.Leu171=) n.1212C= c.469-627C= (n.469-627C=) c.331C= (p.Leu111=) c.700C= (p.Leu234=) c.523C= (p.Leu175=) c.520C= (p.Leu174=) c.352C= (p.Leu118=) | |
| 11 | g.67490370C>G | CA381551671 | AIP | c.677C>G c.511C>G (p.Leu171Val) n.1212C>G c.469-627C>G (n.469-627C>G) c.331C>G (p.Leu111Val) c.700C>G (p.Leu234Val) c.523C>G (p.Leu175Val) c.520C>G (p.Leu174Val) c.352C>G (p.Leu118Val) | |
| 11 | g.67490370C>T | CA475509228 | AIP | c.677C>T c.511C>T (p.Leu171=) n.1212C>T c.469-627C>T (n.469-627C>T) c.331C>T (p.Leu111=) c.700C>T (p.Leu234=) c.523C>T (p.Leu175=) c.520C>T (p.Leu174=) c.352C>T (p.Leu118=) | |
| 11 | g.67490371T>A | CA381551673 | AIP | c.678T>A c.512T>A (p.Leu171Gln) n.1213T>A c.469-626T>A (n.469-626T>A) c.332T>A (p.Leu111Gln) c.701T>A (p.Leu234Gln) c.524T>A (p.Leu175Gln) c.521T>A (p.Leu174Gln) c.353T>A (p.Leu118Gln) | |
| 11 | g.67490371T>C | CA381551677 | AIP | c.678T>C c.512T>C (p.Leu171Pro) n.1213T>C c.469-626T>C (n.469-626T>C) c.332T>C (p.Leu111Pro) c.701T>C (p.Leu234Pro) c.524T>C (p.Leu175Pro) c.521T>C (p.Leu174Pro) c.353T>C (p.Leu118Pro) | |
| 11 | g.67490371T>G | CA381551675 | AIP | c.678T>G c.512T>G (p.Leu171Arg) n.1213T>G c.469-626T>G (n.469-626T>G) c.332T>G (p.Leu111Arg) c.701T>G (p.Leu234Arg) c.524T>G (p.Leu175Arg) c.521T>G (p.Leu174Arg) c.353T>G (p.Leu118Arg) | |
| 11 | g.67490372G>A | CA475509234 | AIP | c.679G>A c.513G>A (p.Leu171=) n.1214G>A c.469-625G>A (n.469-625G>A) c.333G>A (p.Leu111=) c.702G>A (p.Leu234=) c.525G>A (p.Leu175=) c.522G>A (p.Leu174=) c.354G>A (p.Leu118=) | |
| 11 | g.67490372G>C | CA475509232 | AIP | c.679G>C c.513G>C (p.Leu171=) n.1214G>C c.469-625G>C (n.469-625G>C) c.333G>C (p.Leu111=) c.702G>C (p.Leu234=) c.525G>C (p.Leu175=) c.522G>C (p.Leu174=) c.354G>C (p.Leu118=) | |
| 11 | g.67490372G>T | CA475509230 | AIP | c.679G>T c.513G>T (p.Leu171=) n.1214G>T c.469-625G>T (n.469-625G>T) c.333G>T (p.Leu111=) c.702G>T (p.Leu234=) c.525G>T (p.Leu175=) c.522G>T (p.Leu174=) c.354G>T (p.Leu118=) | |
| 11 | g.67490373C>A | CA6140915 | AIP | c.680C>A c.514C>A (p.Leu172Ile) n.1215C>A c.469-624C>A (n.469-624C>A) c.334C>A (p.Leu112Ile) c.703C>A (p.Leu235Ile) c.526C>A (p.Leu176Ile) c.523C>A (p.Leu175Ile) c.355C>A (p.Leu119Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490373C= | CA1980172428 | AIP | c.680C= c.514C= (p.Leu172=) n.1215C= c.469-624C= (n.469-624C=) c.334C= (p.Leu112=) c.703C= (p.Leu235=) c.526C= (p.Leu176=) c.523C= (p.Leu175=) c.355C= (p.Leu119=) | |
| 11 | g.67490373C>G | CA381551681 | AIP | c.680C>G c.514C>G (p.Leu172Val) n.1215C>G c.469-624C>G (n.469-624C>G) c.334C>G (p.Leu112Val) c.703C>G (p.Leu235Val) c.526C>G (p.Leu176Val) c.523C>G (p.Leu175Val) c.355C>G (p.Leu119Val) | |
| 11 | g.67490373C>T | CA224165268 | AIP | c.680C>T c.514C>T (p.Leu172Phe) n.1215C>T c.469-624C>T (n.469-624C>T) c.334C>T (p.Leu112Phe) c.703C>T (p.Leu235Phe) c.526C>T (p.Leu176Phe) c.523C>T (p.Leu175Phe) c.355C>T (p.Leu119Phe) | dbSNP COSMIC |
| 11 | g.67490374T>A | CA381551684 | AIP | c.681T>A c.515T>A (p.Leu172His) n.1216T>A c.469-623T>A (n.469-623T>A) c.335T>A (p.Leu112His) c.704T>A (p.Leu235His) c.527T>A (p.Leu176His) c.524T>A (p.Leu175His) c.356T>A (p.Leu119His) | |
| 11 | g.67490374T>C | CA381551686 | AIP | c.681T>C c.515T>C (p.Leu172Pro) n.1216T>C c.469-623T>C (n.469-623T>C) c.335T>C (p.Leu112Pro) c.704T>C (p.Leu235Pro) c.527T>C (p.Leu176Pro) c.524T>C (p.Leu175Pro) c.356T>C (p.Leu119Pro) | |
| 11 | g.67490374T>G | CA381551687 | AIP | c.681T>G c.515T>G (p.Leu172Arg) n.1216T>G c.469-623T>G (n.469-623T>G) c.335T>G (p.Leu112Arg) c.704T>G (p.Leu235Arg) c.527T>G (p.Leu176Arg) c.524T>G (p.Leu175Arg) c.356T>G (p.Leu119Arg) | |
| 11 | g.67490375C>A | CA475509235 | AIP | c.682C>A c.516C>A (p.Leu172=) n.1217C>A c.469-622C>A (n.469-622C>A) c.336C>A (p.Leu112=) c.705C>A (p.Leu235=) c.528C>A (p.Leu176=) c.525C>A (p.Leu175=) c.357C>A (p.Leu119=) | |
| 11 | g.67490375C= | CA1980172429 | AIP | c.682C= c.516C= (p.Leu172=) n.1217C= c.469-622C= (n.469-622C=) c.336C= (p.Leu112=) c.705C= (p.Leu235=) c.528C= (p.Leu176=) c.525C= (p.Leu175=) c.357C= (p.Leu119=) | |
| 11 | g.67490375C>G | CA475509236 | AIP | c.682C>G c.516C>G (p.Leu172=) n.1217C>G c.469-622C>G (n.469-622C>G) c.336C>G (p.Leu112=) c.705C>G (p.Leu235=) c.528C>G (p.Leu176=) c.525C>G (p.Leu175=) c.357C>G (p.Leu119=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.67490375C>T | CA475509237 | AIP | c.682C>T c.516C>T (p.Leu172=) n.1217C>T c.469-622C>T (n.469-622C>T) c.336C>T (p.Leu112=) c.705C>T (p.Leu235=) c.528C>T (p.Leu176=) c.525C>T (p.Leu175=) c.357C>T (p.Leu119=) | ClinVar dbSNP |
| 11 | g.67490376A>C | CA381551690 | AIP | c.683A>C c.517A>C (p.Asn173His) n.1218A>C c.469-621A>C (n.469-621A>C) c.337A>C (p.Asn113His) c.706A>C (p.Asn236His) c.529A>C (p.Asn177His) c.526A>C (p.Asn176His) c.358A>C (p.Asn120His) | |
| 11 | g.67490376A>G | CA381551692 | AIP | c.683A>G c.517A>G (p.Asn173Asp) n.1218A>G c.469-621A>G (n.469-621A>G) c.337A>G (p.Asn113Asp) c.706A>G (p.Asn236Asp) c.529A>G (p.Asn177Asp) c.526A>G (p.Asn176Asp) c.358A>G (p.Asn120Asp) | |
| 11 | g.67490376A>T | CA381551694 | AIP | c.683A>T c.517A>T (p.Asn173Tyr) n.1218A>T c.469-621A>T (n.469-621A>T) c.337A>T (p.Asn113Tyr) c.706A>T (p.Asn236Tyr) c.529A>T (p.Asn177Tyr) c.526A>T (p.Asn176Tyr) c.358A>T (p.Asn120Tyr) | |
| 11 | g.67490377A= | CA1980172430 | AIP | c.684A= c.518A= (p.Asn173=) n.1219A= c.469-620A= (n.469-620A=) c.338A= (p.Asn113=) c.707A= (p.Asn236=) c.530A= (p.Asn177=) c.527A= (p.Asn176=) c.359A= (p.Asn120=) | |
| 11 | g.67490377A>C | CA381551697 | AIP | c.684A>C c.518A>C (p.Asn173Thr) n.1219A>C c.469-620A>C (n.469-620A>C) c.338A>C (p.Asn113Thr) c.707A>C (p.Asn236Thr) c.530A>C (p.Asn177Thr) c.527A>C (p.Asn176Thr) c.359A>C (p.Asn120Thr) | |
| 11 | g.67490377A>G | CA381551698 | AIP | c.684A>G c.518A>G (p.Asn173Ser) n.1219A>G c.469-620A>G (n.469-620A>G) c.338A>G (p.Asn113Ser) c.707A>G (p.Asn236Ser) c.530A>G (p.Asn177Ser) c.527A>G (p.Asn176Ser) c.359A>G (p.Asn120Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490377A>T | CA381551700 | AIP | c.684A>T c.518A>T (p.Asn173Ile) n.1219A>T c.469-620A>T (n.469-620A>T) c.338A>T (p.Asn113Ile) c.707A>T (p.Asn236Ile) c.530A>T (p.Asn177Ile) c.527A>T (p.Asn176Ile) c.359A>T (p.Asn120Ile) | |
| 11 | g.67490378C>A | CA381551701 | AIP | c.685C>A c.519C>A (p.Asn173Lys) n.1220C>A c.469-619C>A (n.469-619C>A) c.339C>A (p.Asn113Lys) c.708C>A (p.Asn236Lys) c.531C>A (p.Asn177Lys) c.528C>A (p.Asn176Lys) c.360C>A (p.Asn120Lys) | |
| 11 | g.67490378C= | CA1980172431 | AIP | c.685C= c.519C= (p.Asn173=) n.1220C= c.469-619C= (n.469-619C=) c.339C= (p.Asn113=) c.708C= (p.Asn236=) c.531C= (p.Asn177=) c.528C= (p.Asn176=) c.360C= (p.Asn120=) | |
| 11 | g.67490378C>G | CA381551703 | AIP | c.685C>G c.519C>G (p.Asn173Lys) n.1220C>G c.469-619C>G (n.469-619C>G) c.339C>G (p.Asn113Lys) c.708C>G (p.Asn236Lys) c.531C>G (p.Asn177Lys) c.528C>G (p.Asn176Lys) c.360C>G (p.Asn120Lys) | |
| 11 | g.67490378C>T | CA475509239 | AIP | c.685C>T c.519C>T (p.Asn173=) n.1220C>T c.469-619C>T (n.469-619C>T) c.339C>T (p.Asn113=) c.708C>T (p.Asn236=) c.531C>T (p.Asn177=) c.528C>T (p.Asn176=) c.360C>T (p.Asn120=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490379T>A | CA381551704 | AIP | c.686T>A c.520T>A (p.Tyr174Asn) n.1221T>A c.469-618T>A (n.469-618T>A) c.340T>A (p.Tyr114Asn) c.709T>A (p.Tyr237Asn) c.532T>A (p.Tyr178Asn) c.529T>A (p.Tyr177Asn) c.361T>A (p.Tyr121Asn) | |
| 11 | g.67490379T>C | CA381551705 | AIP | c.686T>C c.520T>C (p.Tyr174His) n.1221T>C c.469-618T>C (n.469-618T>C) c.340T>C (p.Tyr114His) c.709T>C (p.Tyr237His) c.532T>C (p.Tyr178His) c.529T>C (p.Tyr177His) c.361T>C (p.Tyr121His) | |
| 11 | g.67490379T>G | CA381551707 | AIP | c.686T>G c.520T>G (p.Tyr174Asp) n.1221T>G c.469-618T>G (n.469-618T>G) c.340T>G (p.Tyr114Asp) c.709T>G (p.Tyr237Asp) c.532T>G (p.Tyr178Asp) c.529T>G (p.Tyr177Asp) c.361T>G (p.Tyr121Asp) | |
| 11 | g.67490380A= | CA1980172432 | AIP | c.687A= c.521A= (p.Tyr174=) n.1222A= c.469-617A= (n.469-617A=) c.341A= (p.Tyr114=) c.710A= (p.Tyr237=) c.533A= (p.Tyr178=) c.530A= (p.Tyr177=) c.362A= (p.Tyr121=) | |
| 11 | g.67490380A>C | CA381551710 | AIP | c.687A>C c.521A>C (p.Tyr174Ser) n.1222A>C c.469-617A>C (n.469-617A>C) c.341A>C (p.Tyr114Ser) c.710A>C (p.Tyr237Ser) c.533A>C (p.Tyr178Ser) c.530A>C (p.Tyr177Ser) c.362A>C (p.Tyr121Ser) | |
| 11 | g.67490380A>G | CA381551712 | AIP | c.687A>G c.521A>G (p.Tyr174Cys) n.1222A>G c.469-617A>G (n.469-617A>G) c.341A>G (p.Tyr114Cys) c.710A>G (p.Tyr237Cys) c.533A>G (p.Tyr178Cys) c.530A>G (p.Tyr177Cys) c.362A>G (p.Tyr121Cys) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490380A>T | CA381551713 | AIP | c.687A>T c.521A>T (p.Tyr174Phe) n.1222A>T c.469-617A>T (n.469-617A>T) c.341A>T (p.Tyr114Phe) c.710A>T (p.Tyr237Phe) c.533A>T (p.Tyr178Phe) c.530A>T (p.Tyr177Phe) c.362A>T (p.Tyr121Phe) | COSMIC |
| 11 | g.67490381C>A | CA381551716 | AIP | c.688C>A c.522C>A (p.Tyr174Ter) n.1223C>A c.469-616C>A (n.469-616C>A) c.342C>A (p.Tyr114Ter) c.711C>A (p.Tyr237Ter) c.534C>A (p.Tyr178Ter) c.531C>A (p.Tyr177Ter) c.363C>A (p.Tyr121Ter) | |
| 11 | g.67490381C= | CA1980172433 | AIP | c.688C= c.522C= (p.Tyr174=) n.1223C= c.469-616C= (n.469-616C=) c.342C= (p.Tyr114=) c.711C= (p.Tyr237=) c.534C= (p.Tyr178=) c.531C= (p.Tyr177=) c.363C= (p.Tyr121=) | |
| 11 | g.67490381C>G | CA381551717 | AIP | c.688C>G c.522C>G (p.Tyr174Ter) n.1223C>G c.469-616C>G (n.469-616C>G) c.342C>G (p.Tyr114Ter) c.711C>G (p.Tyr237Ter) c.534C>G (p.Tyr178Ter) c.531C>G (p.Tyr177Ter) c.363C>G (p.Tyr121Ter) | |
| 11 | g.67490381C>T | CA6140916 | AIP | c.688C>T c.522C>T (p.Tyr174=) n.1223C>T c.469-616C>T (n.469-616C>T) c.342C>T (p.Tyr114=) c.711C>T (p.Tyr237=) c.534C>T (p.Tyr178=) c.531C>T (p.Tyr177=) c.363C>T (p.Tyr121=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490382T>A | CA381551719 | AIP | c.689T>A c.523T>A (p.Cys175Ser) n.1224T>A c.469-615T>A (n.469-615T>A) c.343T>A (p.Cys115Ser) c.712T>A (p.Cys238Ser) c.535T>A (p.Cys179Ser) c.532T>A (p.Cys178Ser) c.364T>A (p.Cys122Ser) | |
| 11 | g.67490382T>C | CA224165278 | AIP | c.689T>C c.523T>C (p.Cys175Arg) n.1224T>C c.469-615T>C (n.469-615T>C) c.343T>C (p.Cys115Arg) c.712T>C (p.Cys238Arg) c.535T>C (p.Cys179Arg) c.532T>C (p.Cys178Arg) c.364T>C (p.Cys122Arg) | dbSNP |
| 11 | g.67490382T>G | CA381551721 | AIP | c.689T>G c.523T>G (p.Cys175Gly) n.1224T>G c.469-615T>G (n.469-615T>G) c.343T>G (p.Cys115Gly) c.712T>G (p.Cys238Gly) c.535T>G (p.Cys179Gly) c.532T>G (p.Cys178Gly) c.364T>G (p.Cys122Gly) | |
| 11 | g.67490382T= | CA1980172434 | AIP | c.689T= c.523T= (p.Cys175=) n.1224T= c.469-615T= (n.469-615T=) c.343T= (p.Cys115=) c.712T= (p.Cys238=) c.535T= (p.Cys179=) c.532T= (p.Cys178=) c.364T= (p.Cys122=) | |
| 11 | g.67490383G>A | CA344155 | AIP | c.690G>A c.524G>A (p.Cys175Tyr) n.1225G>A c.469-614G>A (n.469-614G>A) c.344G>A (p.Cys115Tyr) c.713G>A (p.Cys238Tyr) c.536G>A (p.Cys179Tyr) c.533G>A (p.Cys178Tyr) c.365G>A (p.Cys122Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.67490383G>C | CA381551727 | AIP | c.690G>C c.524G>C (p.Cys175Ser) n.1225G>C c.469-614G>C (n.469-614G>C) c.344G>C (p.Cys115Ser) c.713G>C (p.Cys238Ser) c.536G>C (p.Cys179Ser) c.533G>C (p.Cys178Ser) c.365G>C (p.Cys122Ser) | |
| 11 | g.67490383G= | CA1980172435 | AIP | c.690G= c.524G= (p.Cys175=) n.1225G= c.469-614G= (n.469-614G=) c.344G= (p.Cys115=) c.713G= (p.Cys238=) c.536G= (p.Cys179=) c.533G= (p.Cys178=) c.365G= (p.Cys122=) | |
| 11 | g.67490383G>T | CA381551725 | AIP | c.690G>T c.524G>T (p.Cys175Phe) n.1225G>T c.469-614G>T (n.469-614G>T) c.344G>T (p.Cys115Phe) c.713G>T (p.Cys238Phe) c.536G>T (p.Cys179Phe) c.533G>T (p.Cys178Phe) c.365G>T (p.Cys122Phe) | gnomAD v4 |
| 11 | g.67490384C>A | CA381551729 | AIP | c.691C>A c.525C>A (p.Cys175Ter) n.1226C>A c.469-613C>A (n.469-613C>A) c.345C>A (p.Cys115Ter) c.714C>A (p.Cys238Ter) c.537C>A (p.Cys179Ter) c.534C>A (p.Cys178Ter) c.366C>A (p.Cys122Ter) | dbSNP |
| 11 | g.67490384C= | CA1980172436 | AIP | c.691C= c.525C= (p.Cys175=) n.1226C= c.469-613C= (n.469-613C=) c.345C= (p.Cys115=) c.714C= (p.Cys238=) c.537C= (p.Cys179=) c.534C= (p.Cys178=) c.366C= (p.Cys122=) | |
| 11 | g.67490384C>G | CA381551730 | AIP | c.691C>G c.525C>G (p.Cys175Trp) n.1226C>G c.469-613C>G (n.469-613C>G) c.345C>G (p.Cys115Trp) c.714C>G (p.Cys238Trp) c.537C>G (p.Cys179Trp) c.534C>G (p.Cys178Trp) c.366C>G (p.Cys122Trp) | |
| 11 | g.67490384C>T | CA344159 | AIP | c.691C>T c.525C>T (p.Cys175=) n.1226C>T c.469-613C>T (n.469-613C>T) c.345C>T (p.Cys115=) c.714C>T (p.Cys238=) c.537C>T (p.Cys179=) c.534C>T (p.Cys178=) c.366C>T (p.Cys122=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490385C>A | CA381551732 | AIP | c.692C>A c.526C>A (p.Gln176Lys) n.1227C>A c.469-612C>A (n.469-612C>A) c.346C>A (p.Gln116Lys) c.715C>A (p.Gln239Lys) c.538C>A (p.Gln180Lys) c.535C>A (p.Gln179Lys) c.367C>A (p.Gln123Lys) | |
| 11 | g.67490385C= | CA1980172437 | AIP | c.692C= c.526C= (p.Gln176=) n.1227C= c.469-612C= (n.469-612C=) c.346C= (p.Gln116=) c.715C= (p.Gln239=) c.538C= (p.Gln180=) c.535C= (p.Gln179=) c.367C= (p.Gln123=) | |
| 11 | g.67490385C>G | CA381551733 | AIP | c.692C>G c.526C>G (p.Gln176Glu) n.1227C>G c.469-612C>G (n.469-612C>G) c.346C>G (p.Gln116Glu) c.715C>G (p.Gln239Glu) c.538C>G (p.Gln180Glu) c.535C>G (p.Gln179Glu) c.367C>G (p.Gln123Glu) | |
| 11 | g.67490385C>T | CA344163 | AIP | c.692C>T c.526C>T (p.Gln176Ter) n.1227C>T c.469-612C>T (n.469-612C>T) c.346C>T (p.Gln116Ter) c.715C>T (p.Gln239Ter) c.538C>T (p.Gln180Ter) c.535C>T (p.Gln179Ter) c.367C>T (p.Gln123Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490386A= | CA1980172438 | AIP | c.693A= c.527A= (p.Gln176=) n.1228A= c.469-611A= (n.469-611A=) c.347A= (p.Gln116=) c.716A= (p.Gln239=) c.539A= (p.Gln180=) c.536A= (p.Gln179=) c.368A= (p.Gln123=) | |
| 11 | g.67490386A>C | CA381551739 | AIP | c.693A>C c.527A>C (p.Gln176Pro) n.1228A>C c.469-611A>C (n.469-611A>C) c.347A>C (p.Gln116Pro) c.716A>C (p.Gln239Pro) c.539A>C (p.Gln180Pro) c.536A>C (p.Gln179Pro) c.368A>C (p.Gln123Pro) | |
| 11 | g.67490386A>G | CA6140917 | AIP | c.693A>G c.527A>G (p.Gln176Arg) n.1228A>G c.469-611A>G (n.469-611A>G) c.347A>G (p.Gln116Arg) c.716A>G (p.Gln239Arg) c.539A>G (p.Gln180Arg) c.536A>G (p.Gln179Arg) c.368A>G (p.Gln123Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490386A>T | CA381551737 | AIP | c.693A>T c.527A>T (p.Gln176Leu) n.1228A>T c.469-611A>T (n.469-611A>T) c.347A>T (p.Gln116Leu) c.716A>T (p.Gln239Leu) c.539A>T (p.Gln180Leu) c.536A>T (p.Gln179Leu) c.368A>T (p.Gln123Leu) | |
| 11 | g.67490387G>A | CA475509241 | AIP | c.694G>A c.528G>A (p.Gln176=) n.1229G>A c.469-610G>A (n.469-610G>A) c.348G>A (p.Gln116=) c.717G>A (p.Gln239=) c.540G>A (p.Gln180=) c.537G>A (p.Gln179=) c.369G>A (p.Gln123=) | ClinVar |
| 11 | g.67490387G>C | CA381551741 | AIP | c.694G>C c.528G>C (p.Gln176His) n.1229G>C c.469-610G>C (n.469-610G>C) c.348G>C (p.Gln116His) c.717G>C (p.Gln239His) c.540G>C (p.Gln180His) c.537G>C (p.Gln179His) c.369G>C (p.Gln123His) | |
| 11 | g.67490387G>T | CA381551743 | AIP | c.694G>T c.528G>T (p.Gln176His) n.1229G>T c.469-610G>T (n.469-610G>T) c.348G>T (p.Gln116His) c.717G>T (p.Gln239His) c.540G>T (p.Gln180His) c.537G>T (p.Gln179His) c.369G>T (p.Gln123His) | gnomAD v4 |
| 11 | g.67490388T>A | CA381551745 | AIP | c.695T>A c.529T>A (p.Cys177Ser) n.1230T>A c.469-609T>A (n.469-609T>A) c.349T>A (p.Cys117Ser) c.718T>A (p.Cys240Ser) c.541T>A (p.Cys181Ser) c.538T>A (p.Cys180Ser) c.370T>A (p.Cys124Ser) | |
| 11 | g.67490388T>C | CA381551747 | AIP | c.695T>C c.529T>C (p.Cys177Arg) n.1230T>C c.469-609T>C (n.469-609T>C) c.349T>C (p.Cys117Arg) c.718T>C (p.Cys240Arg) c.541T>C (p.Cys181Arg) c.538T>C (p.Cys180Arg) c.370T>C (p.Cys124Arg) | ClinVar gnomAD v4 |
| 11 | g.67490388T>G | CA381551748 | AIP | c.695T>G c.529T>G (p.Cys177Gly) n.1230T>G c.469-609T>G (n.469-609T>G) c.349T>G (p.Cys117Gly) c.718T>G (p.Cys240Gly) c.541T>G (p.Cys181Gly) c.538T>G (p.Cys180Gly) c.370T>G (p.Cys124Gly) | |
| 11 | g.67490389G>A | CA381551754 | AIP | c.696G>A c.530G>A (p.Cys177Tyr) n.1231G>A c.469-608G>A (n.469-608G>A) c.350G>A (p.Cys117Tyr) c.719G>A (p.Cys240Tyr) c.542G>A (p.Cys181Tyr) c.539G>A (p.Cys180Tyr) c.371G>A (p.Cys124Tyr) | ClinVar dbSNP |
| 11 | g.67490389G>C | CA381551750 | AIP | c.696G>C c.530G>C (p.Cys177Ser) n.1231G>C c.469-608G>C (n.469-608G>C) c.350G>C (p.Cys117Ser) c.719G>C (p.Cys240Ser) c.542G>C (p.Cys181Ser) c.539G>C (p.Cys180Ser) c.371G>C (p.Cys124Ser) | ClinVar |
| 11 | g.67490389G>T | CA381551752 | AIP | c.696G>T c.530G>T (p.Cys177Phe) n.1231G>T c.469-608G>T (n.469-608G>T) c.350G>T (p.Cys117Phe) c.719G>T (p.Cys240Phe) c.542G>T (p.Cys181Phe) c.539G>T (p.Cys180Phe) c.371G>T (p.Cys124Phe) | gnomAD v4 |
| 11 | g.67490390C>A | CA381551755 | AIP | c.697C>A c.531C>A (p.Cys177Ter) n.1232C>A c.469-607C>A (n.469-607C>A) c.351C>A (p.Cys117Ter) c.720C>A (p.Cys240Ter) c.543C>A (p.Cys181Ter) c.540C>A (p.Cys180Ter) c.372C>A (p.Cys124Ter) | |
| 11 | g.67490390C= | CA1980172439 | AIP | c.697C= c.531C= (p.Cys177=) n.1232C= c.469-607C= (n.469-607C=) c.351C= (p.Cys117=) c.720C= (p.Cys240=) c.543C= (p.Cys181=) c.540C= (p.Cys180=) c.372C= (p.Cys124=) | |
| 11 | g.67490390C>G | CA381551757 | AIP | c.697C>G c.531C>G (p.Cys177Trp) n.1232C>G c.469-607C>G (n.469-607C>G) c.351C>G (p.Cys117Trp) c.720C>G (p.Cys240Trp) c.543C>G (p.Cys181Trp) c.540C>G (p.Cys180Trp) c.372C>G (p.Cys124Trp) | |
| 11 | g.67490390C>T | CA224165299 | AIP | c.697C>T c.531C>T (p.Cys177=) n.1232C>T c.469-607C>T (n.469-607C>T) c.351C>T (p.Cys117=) c.720C>T (p.Cys240=) c.543C>T (p.Cys181=) c.540C>T (p.Cys180=) c.372C>T (p.Cys124=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490391A= | CA1980172440 | AIP | c.698A= c.532A= (p.Lys178=) n.1233A= c.469-606A= (n.469-606A=) c.352A= (p.Lys118=) c.721A= (p.Lys241=) c.544A= (p.Lys182=) c.541A= (p.Lys181=) c.373A= (p.Lys125=) | |
| 11 | g.67490391A>C | CA381551761 | AIP | c.698A>C c.532A>C (p.Lys178Gln) n.1233A>C c.469-606A>C (n.469-606A>C) c.352A>C (p.Lys118Gln) c.721A>C (p.Lys241Gln) c.544A>C (p.Lys182Gln) c.541A>C (p.Lys181Gln) c.373A>C (p.Lys125Gln) | |
| 11 | g.67490391A>G | CA344167 | AIP | c.698A>G c.532A>G (p.Lys178Glu) n.1233A>G c.469-606A>G (n.469-606A>G) c.352A>G (p.Lys118Glu) c.721A>G (p.Lys241Glu) c.544A>G (p.Lys182Glu) c.541A>G (p.Lys181Glu) c.373A>G (p.Lys125Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490391A>T | CA344171 | AIP | c.698A>T c.532A>T (p.Lys178Ter) n.1233A>T c.469-606A>T (n.469-606A>T) c.352A>T (p.Lys118Ter) c.721A>T (p.Lys241Ter) c.544A>T (p.Lys182Ter) c.541A>T (p.Lys181Ter) c.373A>T (p.Lys125Ter) | ClinVar dbSNP |
| 11 | g.67490392A>C | CA381551762 | AIP | c.699A>C c.533A>C (p.Lys178Thr) n.1234A>C c.469-605A>C (n.469-605A>C) c.353A>C (p.Lys118Thr) c.722A>C (p.Lys241Thr) c.545A>C (p.Lys182Thr) c.542A>C (p.Lys181Thr) c.374A>C (p.Lys125Thr) | |
| 11 | g.67490392A>G | CA381551764 | AIP | c.699A>G c.533A>G (p.Lys178Arg) n.1234A>G c.469-605A>G (n.469-605A>G) c.353A>G (p.Lys118Arg) c.722A>G (p.Lys241Arg) c.545A>G (p.Lys182Arg) c.542A>G (p.Lys181Arg) c.374A>G (p.Lys125Arg) | |
| 11 | g.67490392A>T | CA381551765 | AIP | c.699A>T c.533A>T (p.Lys178Met) n.1234A>T c.469-605A>T (n.469-605A>T) c.353A>T (p.Lys118Met) c.722A>T (p.Lys241Met) c.545A>T (p.Lys182Met) c.542A>T (p.Lys181Met) c.374A>T (p.Lys125Met) | |
| 11 | g.67490393G>A | CA475509247 | AIP | c.700G>A c.534G>A (p.Lys178=) n.1235G>A c.469-604G>A (n.469-604G>A) c.354G>A (p.Lys118=) c.723G>A (p.Lys241=) c.546G>A (p.Lys182=) c.543G>A (p.Lys181=) c.375G>A (p.Lys125=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490393G>C | CA381551767 | AIP | c.700G>C c.534G>C (p.Lys178Asn) n.1235G>C c.469-604G>C (n.469-604G>C) c.354G>C (p.Lys118Asn) c.723G>C (p.Lys241Asn) c.546G>C (p.Lys182Asn) c.543G>C (p.Lys181Asn) c.375G>C (p.Lys125Asn) | |
| 11 | g.67490393G= | CA1980172441 | AIP | c.700G= c.534G= (p.Lys178=) n.1235G= c.469-604G= (n.469-604G=) c.354G= (p.Lys118=) c.723G= (p.Lys241=) c.546G= (p.Lys182=) c.543G= (p.Lys181=) c.375G= (p.Lys125=) | |
| 11 | g.67490393G>T | CA381551769 | AIP | c.700G>T c.534G>T (p.Lys178Asn) n.1235G>T c.469-604G>T (n.469-604G>T) c.354G>T (p.Lys118Asn) c.723G>T (p.Lys241Asn) c.546G>T (p.Lys182Asn) c.543G>T (p.Lys181Asn) c.375G>T (p.Lys125Asn) | |
| 11 | g.67490394C>A | CA381551771 | AIP | c.701C>A c.535C>A (p.Leu179Met) n.1236C>A c.469-603C>A (n.469-603C>A) c.355C>A (p.Leu119Met) c.724C>A (p.Leu242Met) c.547C>A (p.Leu183Met) c.544C>A (p.Leu182Met) c.376C>A (p.Leu126Met) | |
| 11 | g.67490394C= | CA1980172442 | AIP | c.701C= c.535C= (p.Leu179=) n.1236C= c.469-603C= (n.469-603C=) c.355C= (p.Leu119=) c.724C= (p.Leu242=) c.547C= (p.Leu183=) c.544C= (p.Leu182=) c.376C= (p.Leu126=) | |
| 11 | g.67490394C>G | CA6140918 | AIP | c.701C>G c.535C>G (p.Leu179Val) n.1236C>G c.469-603C>G (n.469-603C>G) c.355C>G (p.Leu119Val) c.724C>G (p.Leu242Val) c.547C>G (p.Leu183Val) c.544C>G (p.Leu182Val) c.376C>G (p.Leu126Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490394C>T | CA475509248 | AIP | c.701C>T c.535C>T (p.Leu179=) n.1236C>T c.469-603C>T (n.469-603C>T) c.355C>T (p.Leu119=) c.724C>T (p.Leu242=) c.547C>T (p.Leu183=) c.544C>T (p.Leu182=) c.376C>T (p.Leu126=) | |
| 11 | g.67490395T>A | CA381551775 | AIP | c.702T>A c.536T>A (p.Leu179Gln) n.1237T>A c.469-602T>A (n.469-602T>A) c.356T>A (p.Leu119Gln) c.725T>A (p.Leu242Gln) c.548T>A (p.Leu183Gln) c.545T>A (p.Leu182Gln) c.377T>A (p.Leu126Gln) | |
| 11 | g.67490395T>C | CA381551777 | AIP | c.702T>C c.536T>C (p.Leu179Pro) n.1237T>C c.469-602T>C (n.469-602T>C) c.356T>C (p.Leu119Pro) c.725T>C (p.Leu242Pro) c.548T>C (p.Leu183Pro) c.545T>C (p.Leu182Pro) c.377T>C (p.Leu126Pro) | |
| 11 | g.67490395T>G | CA381551776 | AIP | c.702T>G c.536T>G (p.Leu179Arg) n.1237T>G c.469-602T>G (n.469-602T>G) c.356T>G (p.Leu119Arg) c.725T>G (p.Leu242Arg) c.548T>G (p.Leu183Arg) c.545T>G (p.Leu182Arg) c.377T>G (p.Leu126Arg) | |
| 11 | g.67490396G>A | CA475509250 | AIP | c.703G>A c.537G>A (p.Leu179=) n.1238G>A c.469-601G>A (n.469-601G>A) c.357G>A (p.Leu119=) c.726G>A (p.Leu242=) c.549G>A (p.Leu183=) c.546G>A (p.Leu182=) c.378G>A (p.Leu126=) | ClinVar dbSNP |
| 11 | g.67490396G>C | CA475509251 | AIP | c.703G>C c.537G>C (p.Leu179=) n.1238G>C c.469-601G>C (n.469-601G>C) c.357G>C (p.Leu119=) c.726G>C (p.Leu242=) c.549G>C (p.Leu183=) c.546G>C (p.Leu182=) c.378G>C (p.Leu126=) | ClinVar dbSNP |
| 11 | g.67490396G>T | CA475509252 | AIP | c.703G>T c.537G>T (p.Leu179=) n.1238G>T c.469-601G>T (n.469-601G>T) c.357G>T (p.Leu119=) c.726G>T (p.Leu242=) c.549G>T (p.Leu183=) c.546G>T (p.Leu182=) c.378G>T (p.Leu126=) | |
| 11 | g.67490396_67490397delinsAA | CA2580084756 | AIP | c.703_704delinsAA c.537_538delinsAA (p.Val180Met) n.1238_1239delinsAA c.469-601_469-600delinsAA (n.469-601_469-600delinsAA) c.357_358delinsAA (p.Val120Met) c.726_727delinsAA (p.Val243Met) c.549_550delinsAA (p.Val184Met) c.546_547delinsAA (p.Val183Met) c.378_379delinsAA (p.Val127Met) | ClinVar |