F2 coagulation factor II, thrombin

Canonical transcript: NM_000506

1206 unique variant annotations were identified in 1645 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
11-46740786-A-C c.1A>C p.Met1? Missense 1/14 - 2
11-46740786-A-G c.1A>G p.Met1? Missense 1/14 - 2
11-46740786-A-T c.1A>T p.Met1? Missense 1/14 - 2
11-46740789-GC-TA c.4_5delinsTA p.Ala2* Nonsense 1/14 - 1
11-46740789-G-T c.4G>T p.Ala2Ser Missense 1/14 - 1
11-46740790-C-G c.5C>G p.Ala2Gly Missense 1/14 - 1
11-46740790-C-T c.5C>T p.Ala2Val Missense 1/14 - 1
11-46740791-G-A c.6G>A p.Ala2Ala Synonymous 1/14 - 10
11-46740791-G-C c.6G>C p.Ala2Ala Synonymous 1/14 - 10
11-46740791-G-T c.6G>T p.Ala2Ala Synonymous 1/14 - 10
11-46740794-C-T c.9C>T p.His3His Synonymous 1/14 - 4
11-46740795-G-A c.10G>A p.Val4Ile Missense 1/14 - 1
11-46740797-C-A c.12C>A p.Val4Val Synonymous 1/14 - 1
11-46740797-C-G c.12C>G p.Val4Val Synonymous 1/14 - 1
11-46740797-C-T c.12C>T p.Val4Val Synonymous 1/14 - 1
11-46740798-C-T c.13C>T p.Arg5* Nonsense 1/14 - 1
11-46740801-GG-TT c.16_17delinsTT p.Gly6Phe Missense 1/14 - 1
11-46740803-C-A c.18C>A p.Gly6Gly Synonymous 1/14 - 4
11-46740803-C-G c.18C>G p.Gly6Gly Synonymous 1/14 - 4
11-46740803-C-T c.18C>T p.Gly6Gly Synonymous 1/14 - 4
11-46740804-T-C c.19T>C p.Leu7Leu Synonymous 1/14 - 1
11-46740804-TT-CC c.19_20delinsCC p.Leu7Pro Missense 1/14 - 1
11-46740806-G-A c.21G>A p.Leu7Leu Synonymous 1/14 - 1
11-46740805-TT-T c.20del p.Leu7Cysfs*114 Frameshift 1/14 - 1
11-46740807-C-A c.22C>A p.Gln8Lys Missense 1/14 - 1
11-46740810-C-T c.25C>T p.Leu9Leu Synonymous 1/14 - 2
11-46740813-C-A c.28C>A p.Pro10Thr Missense 1/14 - 1
11-46740816-G-C c.31G>C p.Gly11Arg Missense 1/14 - 1
11-46740816-G-T c.31G>T p.Gly11Cys Missense 1/14 - 1
11-46740817-G-C c.32G>C p.Gly11Ala Missense 1/14 - 2
11-46740817-G-T c.32G>T p.Gly11Val Missense 1/14 - 2
11-46740818-C-T c.33C>T p.Gly11Gly Synonymous 1/14 - 2
11-46740819-T-A c.34T>A p.Cys12Ser Missense 1/14 - 3
11-46740819-T-C c.34T>C p.Cys12Arg Missense 1/14 - 1
11-46740819-TG-AA c.34_35delinsAA p.Cys12Asn Missense 1/14 - 1
11-46740819-TG-AT c.34_35delinsAT p.Cys12Ile Missense 1/14 - 1
11-46740819-TGC-AAG c.34_36delinsAAG p.Cys12Lys Missense 1/14 - 1
11-46740819-TGC-ATG c.34_36delinsATG p.Cys12Met Missense 1/14 - 2
11-46740819-TGC-GAG c.34_36delinsGAG p.Cys12Glu Missense 1/14 - 2
11-46740819-TG-CT c.34_35delinsCT p.Cys12Leu Missense 1/14 - 3
11-46740819-TG-GA c.34_35delinsGA p.Cys12Asp Missense 1/14 - 3
11-46740819-TG-GC c.34_35delinsGC p.Cys12Ala Missense 1/14 - 22
11-46740820-G-C c.35G>C p.Cys12Ser Missense 1/14 - 3
11-46740820-G-T c.35G>T p.Cys12Phe Missense 1/14 - 1
11-46740820-TG-T c.35del p.Cys12Serfs*109 Frameshift 1/14 - 1
11-46740821-C-A c.36C>A p.Cys12* Nonsense 1/14 - 2
11-46740821-C-T c.36C>T p.Cys12Cys Synonymous 1/14 - 4
11-46740822-CT-GA c.37_38delinsGA p.Leu13Glu Missense 1/14 - 3
11-46740822-CT-GC c.37_38delinsGC p.Leu13Ala Missense 1/14 - 125
11-46740822-CT-GG c.37_38delinsGG p.Leu13Gly Missense 1/14 - 1
11-46740822-CTG-TGT c.37_39delinsTGT p.Leu13Cys Missense 1/14 - 1
11-46740822-CTG-TTT c.37_39delinsTTT p.Leu13Phe Missense 1/14 - 1
11-46740822-CT-TA c.37_38delinsTA p.Leu13* Nonsense 1/14 - 1
11-46740823-T-C c.38T>C p.Leu13Pro Missense 1/14 - 3
11-46740822-C-T c.37C>T p.Leu13Leu Synonymous 1/14 - 1
11-46740824-G-A c.39G>A p.Leu13Leu Synonymous 1/14 - 1
11-46740824-G-C c.39G>C p.Leu13Leu Synonymous 1/14 - 1
11-46740824-G-T c.39G>T p.Leu13Leu Synonymous 1/14 - 1
11-46740825-G-A c.40G>A p.Ala14Thr Missense 1/14 - 1
11-46740825-G-C c.40G>C p.Ala14Pro Missense 1/14 - 3
11-46740825-GC-AA c.40_41delinsAA p.Ala14Asn Missense 1/14 - 1
11-46740825-GC-CG c.40_41delinsCG p.Ala14Arg Missense 1/14 - 3
11-46740825-GCC-TAA c.40_42delinsTAA p.Ala14* Nonsense 1/14 - 1
11-46740825-GCC-TGG c.40_42delinsTGG p.Ala14Trp Missense 1/14 - 1
11-46740825-GC-TG c.40_41delinsTG p.Ala14Cys Missense 1/14 - 2
11-46740825-GC-TT c.40_41delinsTT p.Ala14Phe Missense 1/14 - 2
11-46740825-G-T c.40G>T p.Ala14Ser Missense 1/14 - 2
11-46740826-C-A c.41C>A p.Ala14Asp Missense 1/14 - 1
11-46740826-CC-AG c.41_42delinsAG p.Ala14Glu Missense 1/14 - 4
11-46740827-C-A c.42C>A p.Ala14Ala Synonymous 1/14 - 7
11-46740827-C-G c.42C>G p.Ala14Ala Synonymous 1/14 - 7
11-46740827-C-T c.42C>T p.Ala14Ala Synonymous 1/14 - 7
11-46740828-C-T c.43C>T p.Leu15Leu Synonymous 1/14 - 1
11-46740828-CTG-ATC c.43_45delinsATC p.Leu15Ile Missense 1/14 - 1
11-46740828-CT-GC c.43_44delinsGC p.Leu15Ala Missense 1/14 - 1
11-46740828-CT-GG c.43_44delinsGG p.Leu15Gly Missense 1/14 - 1
11-46740828-CTG-GAC c.43_45delinsGAC p.Leu15Asp Missense 1/14 - 1
11-46740828-CTG-TTT c.43_45delinsTTT p.Leu15Phe Missense 1/14 - 1
11-46740829-T-C c.44T>C p.Leu15Pro Missense 1/14 - 1
11-46740831-G-A c.46G>A p.Ala16Thr Missense 1/14 - 1
11-46740831-GC-AA c.46_47delinsAA p.Ala16Asn Missense 1/14 - 2
11-46740831-GC-AT c.46_47delinsAT p.Ala16Ile Missense 1/14 - 1
11-46740831-GC-CG c.46_47delinsCG p.Ala16Arg Missense 1/14 - 3
11-46740831-GC-TA c.46_47delinsTA p.Ala16Tyr Missense 1/14 - 1
11-46740831-GC-TG c.46_47delinsTG p.Ala16Cys Missense 1/14 - 3
11-46740831-GC-TT c.46_47delinsTT p.Ala16Phe Missense 1/14 - 2
11-46740831-GCT-TAA c.46_48delinsTAA p.Ala16* Nonsense 1/14 - 2
11-46740832-C-A c.47C>A p.Ala16Asp Missense 1/14 - 3
11-46740832-C-G c.47C>G p.Ala16Gly Missense 1/14 - 1
11-46740832-C-T c.47C>T p.Ala16Val Missense 1/14 - 3
11-46740832-CT-AG c.47_48inv p.Ala16Glu Missense 1/14 - 2
11-46740834-G-A c.49G>A p.Ala17Thr Missense 1/14 - 1
11-46740834-GC-CA c.49_50delinsCA p.Ala17His Missense 1/14 - 1
11-46740834-GCC-AAG c.49_51delinsAAG p.Ala17Lys Missense 1/14 - 1
11-46740834-GCC-ATG c.49_51delinsATG p.Ala17Met Missense 1/14 - 1
11-46740834-GCC-CAA c.49_51delinsCAA p.Ala17Gln Missense 1/14 - 1
11-46740834-GC-CG c.49_50delinsCG p.Ala17Arg Missense 1/14 - 1
11-46740834-GC-CT c.49_50delinsCT p.Ala17Leu Missense 1/14 - 1
11-46740834-GCC-TAA c.49_51delinsTAA p.Ala17* Nonsense 1/14 - 1
11-46740834-GC-TA c.49_50delinsTA p.Ala17Tyr Missense 1/14 - 1
11-46740834-GC-TG c.49_50delinsTG p.Ala17Cys Missense 1/14 - 1
11-46740834-GC-TT c.49_50delinsTT p.Ala17Phe Missense 1/14 - 2
11-46740834-G-T c.49G>T p.Ala17Ser Missense 1/14 - 2
11-46740835-C-A c.50C>A p.Ala17Asp Missense 1/14 - 2
11-46740836-C-A c.51C>A p.Ala17Ala Synonymous 1/14 - 1
11-46740836-C-G c.51C>G p.Ala17Ala Synonymous 1/14 - 1
11-46740836-C-T c.51C>T p.Ala17Ala Synonymous 1/14 - 1
11-46740837-C-T c.52C>T p.Leu18Leu Synonymous 1/14 - 1
11-46740837-CT-GC c.52_53delinsGC p.Leu18Ala Missense 1/14 - 101
11-46740837-CTG-TGT c.52_54delinsTGT p.Leu18Cys Missense 1/14 - 1
11-46740838-T-C c.53T>C p.Leu18Pro Missense 1/14 - 2
11-46740840-T-A c.55T>A p.Cys19Ser Missense 1/14 - 1
11-46740840-T-C c.55T>C p.Cys19Arg Missense 1/14 - 1
11-46740840-TG-AA c.55_56delinsAA p.Cys19Asn Missense 1/14 - 1
11-46740840-TG-AT c.55_56delinsAT p.Cys19Ile Missense 1/14 - 3
11-46740840-TG-CA c.55_56inv p.Cys19His Missense 1/14 - 2
11-46740840-TG-CT c.55_56delinsCT p.Cys19Leu Missense 1/14 - 2
11-46740840-TG-GC c.55_56delinsGC p.Cys19Ala Missense 1/14 - 21
11-46740840-TGT-AAG c.55_57delinsAAG p.Cys19Lys Missense 1/14 - 1
11-46740840-TGT-ATG c.55_57delinsATG p.Cys19Met Missense 1/14 - 1
11-46740840-TGT-GAG c.55_57delinsGAG p.Cys19Glu Missense 1/14 - 1
11-46740841-G-C c.56G>C p.Cys19Ser Missense 1/14 - 1
11-46740841-G-A c.56G>A p.Cys19Tyr Missense 1/14 - 2
11-46740841-G-T c.56G>T p.Cys19Phe Missense 1/14 - 1
11-46740842-T-A c.57T>A p.Cys19* Nonsense 1/14 - 2
11-46740842-T-C c.57T>C p.Cys19Cys Synonymous 1/14 - 3
11-46740843-A-G c.58A>G p.Ser20Gly Missense 1/14 - 2
11-46740843-AGC-GAG c.58_60delinsGAG p.Ser20Glu Missense 1/14 - 2
11-46740843-AG-GA c.58_59delinsGA p.Ser20Asp Missense 1/14 - 1
11-46740843-AG-GC c.58_59delinsGC p.Ser20Ala Missense 1/14 - 9
11-46740843-AG-TT c.58_59delinsTT p.Ser20Phe Missense 1/14 - 1
11-46740843-A-T c.58A>T p.Ser20Cys Missense 1/14 - 1
11-46740844-G-C c.59G>C p.Ser20Thr Missense 1/14 - 1
11-46740845-C-T c.60C>T p.Ser20Ser Synonymous 1/14 - 1
11-46740846-C-G c.61C>G p.Leu21Val Missense 1/14 - 1
11-46740846-CT-GC c.61_62delinsGC p.Leu21Ala Missense 1/14 - 1
11-46740846-CTT-GAG c.61_63delinsGAG p.Leu21Glu Missense 1/14 - 3
11-46740847-T-C c.62T>C p.Leu21Pro Missense 1/14 - 3
11-46740849-G-A c.64G>A p.Val22Met Missense 1/14 - 1
11-46740849-GTG-ATC c.64_66delinsATC p.Val22Ile Missense 1/14 - 1
11-46740849-GTG-TTT c.64_66delinsTTT p.Val22Phe Missense 1/14 - 1
11-46740852-C-A c.67C>A p.His23Asn Missense 1/14 - 1
11-46740852-CA-AG c.67_68delinsAG p.His23Ser Missense 1/14 - 1
11-46740852-CA-AT c.67_68delinsAT p.His23Ile Missense 1/14 - 4
11-46740852-CAC-AAG c.67_69delinsAAG p.His23Lys Missense 1/14 - 2
11-46740852-CAC-ATG c.67_69delinsATG p.His23Met Missense 1/14 - 3
11-46740852-CAC-GAG c.67_69delinsGAG p.His23Glu Missense 1/14 - 7
11-46740852-CA-GC c.67_68delinsGC p.His23Ala Missense 1/14 - 148
11-46740852-CA-GG c.67_68delinsGG p.His23Gly Missense 1/14 - 2
11-46740852-CA-TG c.67_68inv p.His23Cys Missense 1/14 - 49
11-46740852-CA-TT c.67_68delinsTT p.His23Phe Missense 1/14 - 4
11-46740852-C-G c.67C>G p.His23Asp Missense 1/14 - 11
11-46740853-A-T c.68A>T p.His23Leu Missense 1/14 - 2
11-46740854-C-T c.69C>T p.His23His Synonymous 1/14 - 2
11-46740855-AGC-GAG c.70_72delinsGAG p.Ser24Glu Missense 1/14 - 5
11-46740855-AG-GC c.70_71delinsGC p.Ser24Ala Missense 1/14 - 2
11-46740856-G-A c.71G>A p.Ser24Asn Missense 1/14 - 2
11-46740857-C-A c.72C>A p.Ser24Arg Missense 1/14 - 1
11-46740857-GCCAGCATG-G c.72_79del p.Gln25Valfs*64 SpliceDonorDeletion 1/14 - 1
11-46740858-CA-GC c.73_74delinsGC p.Gln25Ala Missense 1/14 - 1
11-46740861-CA-AT c.76_77delinsAT p.His26Ile Missense 1/14 - 3
11-46740861-CA-GC c.76_77delinsGC p.His26Ala Missense 1/14 - 127
11-46740861-CA-GG c.76_77delinsGG p.His26Gly Missense 1/14 - 2
11-46740861-CAT-AAG c.76_78delinsAAG p.His26Lys Missense 1/14 - 1
11-46740861-CA-TG c.76_77inv p.His26Cys Missense 1/14 - 38
11-46740861-CAT-GAG c.76_78delinsGAG p.His26Glu Missense 1/14 - 3
11-46740861-CA-TT c.76_77delinsTT p.His26Phe Missense 1/14 - 3
11-46740861-C-G c.76C>G p.His26Asp Missense 1/14 - 7
11-46740862-A-T c.77A>T p.His26Leu Missense 1/14 - 1
11-46740863-T-C c.78T>C p.His26His Synonymous 1/14 - 2
11-46740864-G-A c.79G>A p.Val27Met Missense 1/14 - 1
11-46740864-G-C c.79G>C p.Val27Leu Missense 1/14 - 1
11-46740871-G-A c.79+7G>A - IntronicSNV - 1/13 1
11-46741252-T-TT c.80dup p.Phe28Valfs*64 SpliceAcceptorInsertion 2/14 - 1
11-46741254-T-C c.82T>C p.Phe28Leu Missense 2/14 - 2
11-46741254-TT-CG c.82_83delinsCG p.Phe28Arg Missense 2/14 - 1
11-46741254-TT-GC c.82_83delinsGC p.Phe28Ala Missense 2/14 - 4
11-46741256-C-A c.84C>A p.Phe28Leu Missense 2/14 - 2
11-46741256-C-G c.84C>G p.Phe28Leu Missense 2/14 - 2
11-46741257-CT-AC c.85_86delinsAC p.Leu29Thr Missense 2/14 - 2
11-46741257-CT-GC c.85_86delinsGC p.Leu29Ala Missense 2/14 - 2
11-46741257-CTG-TTT c.85_87delinsTTT p.Leu29Phe Missense 2/14 - 2
11-46741257-CT-TC c.85_86delinsTC p.Leu29Ser Missense 2/14 - 2
11-46741258-TG-AT c.86_87delinsAT p.Leu29His Missense 2/14 - 1
11-46741257-C-T c.85C>T p.Leu29Leu Synonymous 2/14 - 1
11-46741259-G-A c.87G>A p.Leu29Leu Synonymous 2/14 - 1
11-46741259-G-C c.87G>C p.Leu29Leu Synonymous 2/14 - 1
11-46741259-G-T c.87G>T p.Leu29Leu Synonymous 2/14 - 1
11-46741260-G-C c.88G>C p.Ala30Pro Missense 2/14 - 11
11-46741260-GC-AT c.88_89delinsAT p.Ala30Ile Missense 2/14 - 1
11-46741260-GC-TG c.88_89delinsTG p.Ala30Cys Missense 2/14 - 3
11-46741260-GC-TT c.88_89delinsTT p.Ala30Phe Missense 2/14 - 2
11-46741261-C-T c.89C>T p.Ala30Val Missense 2/14 - 4
11-46741262-T-A c.90T>A p.Ala30Ala Synonymous 2/14 - 3
11-46741262-T-C c.90T>C p.Ala30Ala Synonymous 2/14 - 3
11-46741262-T-G c.90T>G p.Ala30Ala Synonymous 2/14 - 3
11-46741263-CCT-ATG c.91_93delinsATG p.Pro31Met Missense 2/14 - 1
11-46741263-CC-TG c.91_92delinsTG p.Pro31Cys Missense 2/14 - 3
11-46741264-C-G c.92C>G p.Pro31Arg Missense 2/14 - 1
11-46741267-A-G c.95A>G p.Gln32Arg Missense 2/14 - 1
11-46741268-G-GT c.96_97insT p.Gln33Serfs*59 Frameshift 2/14 - 1
11-46741269-C-A c.97C>A p.Gln33Lys Missense 2/14 - 1
11-46741269-C-T c.97C>T p.Gln33* Nonsense 2/14 - 1
11-46741272-G-A c.100G>A p.Ala34Thr Missense 2/14 - 1
11-46741272-GC-AT c.100_101delinsAT p.Ala34Ile Missense 2/14 - 1
11-46741272-GCA-TGT c.100_102delinsTGT p.Ala34Cys Missense 2/14 - 1
11-46741272-GCA-TTT c.100_102delinsTTT p.Ala34Phe Missense 2/14 - 3
11-46741273-C-A c.101C>A p.Ala34Glu Missense 2/14 - 1
11-46741273-CA-AC c.101_102delinsAC p.Ala34Asp Missense 2/14 - 1
11-46741273-C-T c.101C>T p.Ala34Val Missense 2/14 - 1
11-46741275-C-G c.103C>G p.Arg35Gly Missense 2/14 - 1
11-46741275-CG-GA c.103_104delinsGA p.Arg35Glu Missense 2/14 - 1
11-46741275-CG-GC c.103_104delinsGC p.Arg35Ala Missense 2/14 - 2
11-46741275-CGG-TGT c.103_105delinsTGT p.Arg35Cys Missense 2/14 - 2
11-46741275-CG-TA c.103_104delinsTA p.Arg35* Nonsense 2/14 - 1
11-46741278-T-C c.106T>C p.Ser36Pro Missense 2/14 - 1
11-46741278-T-G c.106T>G p.Ser36Ala Missense 2/14 - 7
11-46741279-C-CC c.107dup p.Leu37Alafs*55 Frameshift 2/14 - 1
11-46741281-CT-GA c.109_110delinsGA p.Leu37Glu Missense 2/14 - 1
11-46741281-CT-GC c.109_110delinsGC p.Leu37Ala Missense 2/14 - 79
11-46741281-C-T c.109C>T p.Leu37Leu Synonymous 2/14 - 3
11-46741284-C-A c.112C>A p.Leu38Ile Missense 2/14 - 1
11-46741284-C-T c.112C>T p.Leu38Phe Missense 2/14 - 1
11-46741284-CTC-GAG c.112_114inv p.Leu38Glu Missense 2/14 - 4
11-46741287-C-T c.115C>T p.Gln39* Nonsense 2/14 - 3
11-46741289-G-C c.117G>C p.Gln39His Missense 2/14 - 1
11-46741289-G-T c.117G>T p.Gln39His Missense 2/14 - 1
11-46741294-T-C c.122T>C p.Val41Ala Missense 2/14 - 1
11-46741294-TC-AG c.122_123delinsAG p.Val41Glu Missense 2/14 - 1
11-46741296-CC-C c.124del p.Arg42Glyfs*79 Frameshift 2/14 - 1
11-46741296-CG-AA c.124_125delinsAA p.Arg42Lys Missense 2/14 - 1
11-46741296-CGG-TGT c.124_126delinsTGT p.Arg42Cys Missense 2/14 - 2
11-46741296-C-T c.124C>T p.Arg42Trp Missense 2/14 - 2
11-46741297-G-C c.125G>C p.Arg42Pro Missense 2/14 - 1
11-46741300-G-A c.128G>A p.Arg43Gln Missense 2/14 - 1
11-46741302-G-A c.130G>A p.Ala44Thr Missense 2/14 - 1
11-46741302-G-C c.130G>C p.Ala44Pro Missense 2/14 - 1
11-46741302-GCC-CAA c.130_132delinsCAA p.Ala44Gln Missense 2/14 - 1
11-46741302-GC-CG c.130_131delinsCG p.Ala44Arg Missense 2/14 - 1
11-46741302-GC-TT c.130_131delinsTT p.Ala44Phe Missense 2/14 - 1
11-46741303-C-A c.131C>A p.Ala44Asp Missense 2/14 - 1
11-46741303-CC-AG c.131_132delinsAG p.Ala44Glu Missense 2/14 - 1
11-46741303-C-G c.131C>G p.Ala44Gly Missense 2/14 - 1
11-46741304-C-A c.132C>A p.Ala44Ala Synonymous 2/14 - 5
11-46741304-C-G c.132C>G p.Ala44Ala Synonymous 2/14 - 5
11-46741304-C-T c.132C>T p.Ala44Ala Synonymous 2/14 - 5
11-46741305-AAC-GAG c.133_135delinsGAG p.Asn45Glu Missense 2/14 - 1
11-46741305-AA-GC c.133_134delinsGC p.Asn45Ala Missense 2/14 - 1
11-46741305-A-T c.133A>T p.Asn45Tyr Missense 2/14 - 1
11-46741307-C-T c.135C>T p.Asn45Asn Synonymous 2/14 - 1
11-46741308-A-G c.136A>G p.Thr46Ala Missense 2/14 - 1
11-46741309-CC-GG c.137_138inv p.Thr46Arg Missense 2/14 - 1
11-46741311-TT-CG c.139_140delinsCG p.Phe47Arg Missense 2/14 - 1
11-46741311-TTC-GAG c.139_141delinsGAG p.Phe47Glu Missense 2/14 - 1
11-46741311-TT-GC c.139_140delinsGC p.Phe47Ala Missense 2/14 - 1
11-46741312-TC-GG c.140_141delinsGG p.Phe47Trp Missense 2/14 - 1
11-46741313-C-T c.141C>T p.Phe47Phe Synonymous 2/14 - 1
11-46741314-T-G c.142T>G p.Leu48Val Missense 2/14 - 2
11-46741314-TT-CC c.142_143delinsCC p.Leu48Pro Missense 2/14 - 1
11-46741317-GA-CC c.145_146delinsCC p.Glu49Pro Missense 2/14 - 1
11-46741318-A-C c.146A>C p.Glu49Ala Missense 2/14 - 2
11-46741319-G-A c.147G>A p.Glu49Glu Synonymous 2/14 - 1
11-46741319-G-C c.147G>C p.Glu49Asp Missense 2/14 - 1
11-46741319-G-T c.147G>T p.Glu49Asp Missense 2/14 - 1
11-46741320-GAG-TTT c.148_150delinsTTT p.Glu50Phe Missense 2/14 - 1
11-46741320-GGAGGTGCGCAAGGGCAACC-G c.148_166del p.Glu50Trpfs*65 Frameshift 2/14 - 1
11-46741322-G-C c.150G>C p.Glu50Asp Missense 2/14 - 2
11-46741322-G-T c.150G>T p.Glu50Asp Missense 2/14 - 2
11-46741323-G-T c.151G>T p.Val51Leu Missense 2/14 - 1
11-46741324-T-A c.152T>A p.Val51Glu Missense 2/14 - 1
11-46741326-CGC-AAG c.154_156delinsAAG p.Arg52Lys Missense 2/14 - 1
11-46741326-CG-GC c.154_155delinsGC p.Arg52Ala Missense 2/14 - 2
11-46741326-C-T c.154C>T p.Arg52Cys Missense 2/14 - 1
11-46741329-AA-GC c.157_158delinsGC p.Lys53Ala Missense 2/14 - 2
11-46741329-AA-GT c.157_158delinsGT p.Lys53Val Missense 2/14 - 1
11-46741330-A-G c.158A>G p.Lys53Arg Missense 2/14 - 2
11-46741331-G-C c.159G>C p.Lys53Asn Missense 2/14 - 1
11-46741331-G-T c.159G>T p.Lys53Asn Missense 2/14 - 1
11-46741335-A-C c.163A>C p.Asn55His Missense 2/14 - 1
11-46741336-A-G c.164A>G p.Asn55Ser Missense 2/14 - 1
11-46741338-CT-TC c.166_167delinsTC p.Leu56Ser Missense 2/14 - 1
11-46741340-G-GT c.168_169insT p.Glu57* Nonsense 2/14 - 1
11-46741341-G-A c.169G>A p.Glu57Lys Missense 2/14 - 1
11-46741342-A-C c.170A>C p.Glu57Ala Missense 2/14 - 1
11-46741343-G-C c.171G>C p.Glu57Asp Missense 2/14 - 1
11-46741343-G-T c.171G>T p.Glu57Asp Missense 2/14 - 1
11-46741344-C-G c.172C>G p.Arg58Gly Missense 2/14 - 2
11-46741344-CGA-TGT c.172_174delinsTGT p.Arg58Cys Missense 2/14 - 1
11-46741344-C-T c.172C>T p.Arg58* Nonsense 2/14 - 2
11-46741348-A-C c.176A>C p.Glu59Ala Missense 2/14 - 1
11-46741350-T-G c.178T>G p.Cys60Gly Missense 2/14 - 1
11-46741350-TGC-GAG c.178_180delinsGAG p.Cys60Glu Missense 2/14 - 1
11-46741350-TG-GC c.178_179delinsGC p.Cys60Ala Missense 2/14 - 2
11-46741352-C-A c.180C>A p.Cys60* Nonsense 2/14 - 2
11-46741352-C-T c.180C>T p.Cys60Cys Synonymous 2/14 - 1
11-46741356-GA-CC c.184_185delinsCC p.Glu62Pro Missense 2/14 - 1
11-46741356-GAG-TGT c.184_186delinsTGT p.Glu62Cys Missense 2/14 - 1
11-46741356-GAG-TTT c.184_186delinsTTT p.Glu62Phe Missense 2/14 - 1
11-46741357-A-C c.185A>C p.Glu62Ala Missense 2/14 - 2
11-46741358-G-C c.186G>C p.Glu62Asp Missense 2/14 - 5
11-46741358-G-T c.186G>T p.Glu62Asp Missense 2/14 - 5
11-46741359-GAG-TGT c.187_189delinsTGT p.Glu63Cys Missense 2/14 - 3
11-46741360-GAGACGTGCAGCTACGAGGAGGCCTTCGAG-G c.188_216del p.Glu63Glyfs*19 Frameshift 2/14 - 1
11-46741361-G-C c.189G>C p.Glu63Asp Missense 2/14 - 2
11-46741361-G-T c.189G>T p.Glu63Asp Missense 2/14 - 2
11-46741362-A-G c.190A>G p.Thr64Ala Missense 2/14 - 1
11-46741362-A-T c.190A>T p.Thr64Ser Missense 2/14 - 1
11-46741363-C-T c.191C>T p.Thr64Met Missense 2/14 - 1
11-46741364-G-C c.192G>C p.Thr64Thr Synonymous 2/14 - 1
11-46741365-TG-GA c.193_194delinsGA p.Cys65Asp Missense 2/14 - 1
11-46741365-TG-GC c.193_194delinsGC p.Cys65Ala Missense 2/14 - 1
11-46741366-G-A c.194G>A p.Cys65Tyr Missense 2/14 - 3
11-46741366-G-T c.194G>T p.Cys65Phe Missense 2/14 - 1
11-46741367-C-A c.195C>A p.Cys65* Nonsense 2/14 - 1
11-46741368-A-G c.196A>G p.Ser66Gly Missense 2/14 - 1
11-46741371-TA-GC c.199_200delinsGC p.Tyr67Ala Missense 2/14 - 2
11-46741372-A-G c.200A>G p.Tyr67Cys Missense 2/14 - 1
11-46741374-GA-CT c.202_203delinsCT p.Glu68Leu Missense 2/14 - 1
11-46741374-GAG-TGT c.202_204delinsTGT p.Glu68Cys Missense 2/14 - 1
11-46741374-GAG-TTT c.202_204delinsTTT p.Glu68Phe Missense 2/14 - 1
11-46741374-G-GG c.202dup p.Glu68Glyfs*24 Frameshift 2/14 - 1
11-46741375-A-C c.203A>C p.Glu68Ala Missense 2/14 - 1
11-46741375-A-G c.203A>G p.Glu68Gly Missense 2/14 - 1
11-46741376-G-C c.204G>C p.Glu68Asp Missense 2/14 - 2
11-46741376-G-T c.204G>T p.Glu68Asp Missense 2/14 - 2
11-46741377-GA-AG c.205_206delinsAG p.Glu69Arg Missense 2/14 - 1
11-46741377-GG-G c.205del p.Glu69Argfs*52 Frameshift 2/14 - 1
11-46741378-A-C c.206A>C p.Glu69Ala Missense 2/14 - 1
11-46741379-G-A c.207G>A p.Glu69Glu Synonymous 2/14 - 2
11-46741379-G-C c.207G>C p.Glu69Asp Missense 2/14 - 2
11-46741379-G-T c.207G>T p.Glu69Asp Missense 2/14 - 2
11-46741380-GC-AT c.208_209delinsAT p.Ala70Ile Missense 2/14 - 1
11-46741380-GC-TT c.208_209delinsTT p.Ala70Phe Missense 2/14 - 1
11-46741380-G-T c.208G>T p.Ala70Ser Missense 2/14 - 1
11-46741381-C-A c.209C>A p.Ala70Asp Missense 2/14 - 1
11-46741381-CC-AG c.209_210delinsAG p.Ala70Glu Missense 2/14 - 2
11-46741381-C-G c.209C>G p.Ala70Gly Missense 2/14 - 1
11-46741382-C-A c.210C>A p.Ala70Ala Synonymous 2/14 - 1
11-46741382-C-G c.210C>G p.Ala70Ala Synonymous 2/14 - 1
11-46741382-C-T c.210C>T p.Ala70Ala Synonymous 2/14 - 1
11-46741383-TT-GC c.211_212delinsGC p.Phe71Ala Missense 2/14 - 1
11-46741385-C-T c.213C>T p.Phe71Phe Synonymous 2/14 - 1
11-46741386-G-A c.214G>A p.Glu72Lys Missense 2/14 - 2
11-46741386-GAG-TGT c.214_216delinsTGT p.Glu72Cys Missense 2/14 - 1
11-46741386-G-C c.214G>C p.Glu72Gln Missense 2/14 - 1
11-46741386-G-T c.214G>T p.Glu72* Nonsense 2/14 - 1
11-46741388-G-A c.216G>A p.Glu72Glu Synonymous 2/14 - 1
11-46741389-GCT-CAA c.217_219delinsCAA p.Ala73Gln Missense 2/14 - 1
11-46741389-GC-TT c.217_218delinsTT p.Ala73Phe Missense 2/14 - 3
11-46741389-GGCTCTGGAGTCCT-G c.217_229del p.Ala73Profs*44 Frameshift 2/14 - 1
11-46741389-G-GG c.217dup p.Ala73Glyfs*19 Frameshift 2/14 - 1
11-46741389-G-T c.217G>T p.Ala73Ser Missense 2/14 - 1
11-46741390-C-A c.218C>A p.Ala73Asp Missense 2/14 - 3
11-46741390-C-G c.218C>G p.Ala73Gly Missense 2/14 - 2
11-46741390-CT-AG c.218_219inv p.Ala73Glu Missense 2/14 - 3
11-46741391-T-A c.219T>A p.Ala73Ala Synonymous 2/14 - 2
11-46741391-T-C c.219T>C p.Ala73Ala Synonymous 2/14 - 2
11-46741391-T-G c.219T>G p.Ala73Ala Synonymous 2/14 - 2
11-46741392-C-A c.220C>A p.Leu74Met Missense 2/14 - 5
11-46741392-C-G c.220C>G p.Leu74Val Missense 2/14 - 10
11-46741392-CTG-ATC c.220_222delinsATC p.Leu74Ile Missense 2/14 - 5
11-46741392-CTG-TTT c.220_222delinsTTT p.Leu74Phe Missense 2/14 - 2
11-46741393-T-G c.221T>G p.Leu74Arg Missense 2/14 - 1
11-46741392-C-T c.220C>T p.Leu74Leu Synonymous 2/14 - 1
11-46741394-G-A c.222G>A p.Leu74Leu Synonymous 2/14 - 1
11-46741394-G-C c.222G>C p.Leu74Leu Synonymous 2/14 - 1
11-46741394-G-T c.222G>T p.Leu74Leu Synonymous 2/14 - 1
11-46741395-G-A c.223G>A p.Glu75Lys Missense 2/14 - 1
11-46741395-GAG-TGT c.223_225delinsTGT p.Glu75Cys Missense 2/14 - 2
11-46741395-G-T c.223G>T p.Glu75* Nonsense 2/14 - 1
11-46741396-A-C c.224A>C p.Glu75Ala Missense 2/14 - 2
11-46741396-A-G c.224A>G p.Glu75Gly Missense 2/14 - 1
11-46741397-G-A c.225G>A p.Glu75Glu Synonymous 2/14 - 1
11-46741397-G-C c.225G>C p.Glu75Asp Missense 2/14 - 1
11-46741397-G-T c.225G>T p.Glu75Asp Missense 2/14 - 1
11-46741398-TC-GA c.226_227inv p.Ser76Asp Missense 2/14 - 1
11-46741398-T-G c.226T>G p.Ser76Ala Missense 2/14 - 1
11-46741400-C-G c.228C>G p.Ser76Ser Synonymous 2/14 - 1
11-46741401-TC-CA c.229_230delinsCA p.Ser77His Missense 2/14 - 1
11-46741401-TC-GG c.229_230delinsGG p.Ser77Gly Missense 2/14 - 1
11-46741401-T-G c.229T>G p.Ser77Ala Missense 2/14 - 1
11-46741402-C-T c.230C>T p.Ser77Phe Missense 2/14 - 2
11-46741404-A-G c.232A>G p.Thr78Ala Missense 2/14 - 1
11-46741405-C-T c.233C>T p.Thr78Met Missense 2/14 - 1
11-46741407-G-A c.235G>A p.Ala79Thr Missense 2/14 - 2
11-46741407-GC-TG c.235_236delinsTG p.Ala79Cys Missense 2/14 - 1
11-46741408-C-G c.236C>G p.Ala79Gly Missense 2/14 - 1
11-46741408-C-T c.236C>T p.Ala79Val Missense 2/14 - 2
11-46741408-CT-AG c.236_237inv p.Ala79Glu Missense 2/14 - 2
11-46741411-CG-AC c.239_240delinsAC p.Thr80Asn Missense 2/14 - 1
11-46741411-CG-TC c.239_240delinsTC p.Thr80Ile Missense 2/14 - 1
11-46741495-C-T c.240+83C>T - IntronicSNV - 2/13 8
11-46741908-C-A c.241-165C>A - IntronicSNV - 2/13 2
11-46742074-A-C c.242A>C p.Asp81Ala Missense 3/14 - 2
11-46742075-T-A c.243T>A p.Asp81Glu Missense 3/14 - 1
11-46742075-T-G c.243T>G p.Asp81Glu Missense 3/14 - 1
11-46742076-G-C c.244G>C p.Val82Leu Missense 3/14 - 3
11-46742076-G-T c.244G>T p.Val82Leu Missense 3/14 - 3
11-46742076-GT-AC c.244_245inv p.Val82Thr Missense 3/14 - 5
11-46742076-GTG-ATC c.244_246delinsATC p.Val82Ile Missense 3/14 - 10
11-46742076-GTG-TGT c.244_246delinsTGT p.Val82Cys Missense 3/14 - 2
11-46742076-GTG-TTT c.244_246delinsTTT p.Val82Phe Missense 3/14 - 5
11-46742076-GT-TC c.244_245delinsTC p.Val82Ser Missense 3/14 - 1
11-46742077-T-C c.245T>C p.Val82Ala Missense 3/14 - 19
11-46742078-G-A c.246G>A p.Val82Val Synonymous 3/14 - 2
11-46742079-TTC-GAG c.247_249delinsGAG p.Phe83Glu Missense 3/14 - 1
11-46742083-G-A c.251G>A p.Trp84* Nonsense 3/14 - 2
11-46742084-G-A c.252G>A p.Trp84* Nonsense 3/14 - 2
11-46742085-G-A c.253G>A p.Ala85Thr Missense 3/14 - 1
11-46742085-GC-TT c.253_254delinsTT p.Ala85Phe Missense 3/14 - 1
11-46742086-CC-AG c.254_255delinsAG p.Ala85Glu Missense 3/14 - 2
11-46742087-C-A c.255C>A p.Ala85Ala Synonymous 3/14 - 2
11-46742087-C-G c.255C>G p.Ala85Ala Synonymous 3/14 - 2
11-46742087-C-T c.255C>T p.Ala85Ala Synonymous 3/14 - 2
11-46742088-A-G c.256A>G p.Lys86Glu Missense 3/14 - 1
11-46742088-A-T c.256A>T p.Lys86* Nonsense 3/14 - 1
11-46742089-A-AA c.257dup p.Tyr87Valfs*5 Frameshift 3/14 - 1
11-46742090-G-C c.258G>C p.Lys86Asn Missense 3/14 - 2
11-46742090-G-T c.258G>T p.Lys86Asn Missense 3/14 - 2
11-46742091-TA-GC c.259_260delinsGC p.Tyr87Ala Missense 3/14 - 1
11-46742091-T-C c.259T>C p.Tyr87His Missense 3/14 - 1
11-46742093-C-A c.261C>A p.Tyr87* Nonsense 3/14 - 1
11-46742094-AC-GG c.262_263delinsGG p.Thr88Gly Missense 3/14 - 1
11-46742094-A-G c.262A>G p.Thr88Ala Missense 3/14 - 1
11-46742095-CA-TG c.263_264inv p.Thr88Met Missense 3/14 - 1
11-46742340-C-A c.266C>A p.Ala89Asp Missense 4/14 - 5
11-46742340-CT-AG c.266_267inv p.Ala89Glu Missense 4/14 - 1
11-46742341-T-A c.267T>A p.Ala89Ala Synonymous 4/14 - 2
11-46742341-T-C c.267T>C p.Ala89Ala Synonymous 4/14 - 2
11-46742341-T-G c.267T>G p.Ala89Ala Synonymous 4/14 - 2
11-46742346-A-C c.272A>C p.Glu91Ala Missense 4/14 - 1
11-46742347-G-C c.273G>C p.Glu91Asp Missense 4/14 - 2
11-46742347-G-T c.273G>T p.Glu91Asp Missense 4/14 - 2
11-46742348-AC-GA c.274_275delinsGA p.Thr92Glu Missense 4/14 - 1
11-46742348-A-G c.274A>G p.Thr92Ala Missense 4/14 - 1
11-46742351-GCG-TGT c.277_279delinsTGT p.Ala93Cys Missense 4/14 - 2
11-46742351-GCG-TTT c.277_279delinsTTT p.Ala93Phe Missense 4/14 - 4
11-46742352-C-A c.278C>A p.Ala93Glu Missense 4/14 - 3
11-46742352-CG-AC c.278_279delinsAC p.Ala93Asp Missense 4/14 - 2
11-46742352-GCGAGGACGCCTCGAGATAAGCTTGCTGCA-G c.278_306del p.Ala93Valfs*5 Frameshift 4/14 - 1
11-46742353-G-A c.279G>A p.Ala93Ala Synonymous 4/14 - 3
11-46742353-G-C c.279G>C p.Ala93Ala Synonymous 4/14 - 3
11-46742353-G-T c.279G>T p.Ala93Ala Synonymous 4/14 - 3
11-46742354-A-G c.280A>G p.Arg94Gly Missense 4/14 - 1
11-46742354-AGG-CAT c.280_282delinsCAT p.Arg94His Missense 4/14 - 2
11-46742357-AC-GA c.283_284delinsGA p.Thr95Glu Missense 4/14 - 1
11-46742360-CC-GG c.286_287inv p.Pro96Gly Missense 4/14 - 2
11-46742361-CT-AA c.287_288delinsAA p.Pro96Gln Missense 4/14 - 1
11-46742363-CG-GC c.289_290delinsGC p.Arg97Ala Missense 4/14 - 2
11-46742364-G-T c.290G>T p.Arg97Leu Missense 4/14 - 1
11-46742366-G-T c.292G>T p.Asp98Tyr Missense 4/14 - 1
11-46742367-A-C c.293A>C p.Asp98Ala Missense 4/14 - 2
11-46742367-A-G c.293A>G p.Asp98Gly Missense 4/14 - 1
11-46742369-AA-CC c.295_296delinsCC p.Lys99Pro Missense 4/14 - 1
11-46742369-AA-GC c.295_296delinsGC p.Lys99Ala Missense 4/14 - 2
11-46742369-A-C c.295A>C p.Lys99Gln Missense 4/14 - 1
11-46742372-C-A c.298C>A p.Leu100Ile Missense 4/14 - 16
11-46742372-C-T c.298C>T p.Leu100Phe Missense 4/14 - 1
11-46742372-CTT-AAG c.298_300inv p.Leu100Lys Missense 4/14 - 1
11-46742373-T-C c.299T>C p.Leu100Pro Missense 4/14 - 2
11-46742374-T-A c.300T>A p.Leu100Leu Synonymous 4/14 - 1
11-46742374-T-C c.300T>C p.Leu100Leu Synonymous 4/14 - 1
11-46742374-T-G c.300T>G p.Leu100Leu Synonymous 4/14 - 1
11-46742375-G-A c.301G>A p.Ala101Thr Missense 4/14 - 1
11-46742375-G-C c.301G>C p.Ala101Pro Missense 4/14 - 1
11-46742375-GC-CG c.301_302delinsCG p.Ala101Arg Missense 4/14 - 1
11-46742375-G-T c.301G>T p.Ala101Ser Missense 4/14 - 1
11-46742378-GCA-TGT c.304_306delinsTGT p.Ala102Cys Missense 4/14 - 1
11-46742381-T-A c.307T>A p.Cys103Ser Missense 4/14 - 3
11-46742382-G-C c.308G>C p.Cys103Ser Missense 4/14 - 3
11-46742384-CTG-TGT c.310_312delinsTGT p.Leu104Cys Missense 4/14 - 1
11-46742384-CTG-TTT c.310_312delinsTTT p.Leu104Phe Missense 4/14 - 1
11-46742390-G-A c.316G>A p.Gly106Ser Missense 4/14 - 3
11-46742426-G-A c.316+36G>A - IntronicSNV - 4/13 7
11-46743135-T-C c.316+745T>C - IntronicSNV - 4/13 2
11-46743232-C-T c.316+842C>T - IntronicSNV - 4/13 8
11-46743247-T-C c.316+857T>C - IntronicSNV - 4/13 73
11-46744368-T-C c.317-362T>C - IntronicSNV - 4/13 6
11-46744528-T-C c.317-202T>C - IntronicSNV - 4/13 6
11-46744732-AA-GG c.319_320delinsGG p.Asn107Gly Missense 5/14 - 1
11-46744733-A-T c.320A>T p.Asn107Ile Missense 5/14 - 1
11-46744734-ACT-A c.321_322del p.Asn107Lysfs*3 Frameshift 5/14 - 1
11-46744735-T-G c.322T>G p.Cys108Gly Missense 5/14 - 1
11-46744736-G-A c.323G>A p.Cys108Tyr Missense 5/14 - 1
11-46744737-T-A c.324T>A p.Cys108* Nonsense 5/14 - 1
11-46744738-GC-TT c.325_326delinsTT p.Ala109Phe Missense 5/14 - 1
11-46744738-G-T c.325G>T p.Ala109Ser Missense 5/14 - 1
11-46744739-C-T c.326C>T p.Ala109Val Missense 5/14 - 4
11-46744742-A-C c.329A>C p.Glu110Ala Missense 5/14 - 2
11-46744744-GGT-CAA c.331_333delinsCAA p.Gly111Gln Missense 5/14 - 1
11-46744748-T-A c.335T>A p.Leu112Gln Missense 5/14 - 1
11-46744749-G-T c.336G>T p.Leu112Leu Synonymous 5/14 - 1
11-46744751-G-A c.338G>A p.Gly113Asp Missense 5/14 - 2
11-46744751-G-C c.338G>C p.Gly113Ala Missense 5/14 - 1
11-46744751-GT-AG c.338_339delinsAG p.Gly113Glu Missense 5/14 - 2
11-46744752-GT-G c.339del p.Thr114Argfs*7 Frameshift 5/14 - 1
11-46744753-A-G c.340A>G p.Thr114Ala Missense 5/14 - 3
11-46744754-CG-TC c.341_342delinsTC p.Thr114Ile Missense 5/14 - 1
11-46744762-CGA-TGG c.349_351delinsTGG p.Arg117Trp Missense 5/14 - 2
11-46744762-CG-GA c.349_350delinsGA p.Arg117Glu Missense 5/14 - 1
11-46744762-CG-GC c.349_350delinsGC p.Arg117Ala Missense 5/14 - 1
11-46744762-C-T c.349C>T p.Arg117* Nonsense 5/14 - 1
11-46744765-G-A c.352G>A p.Gly118Arg Missense 5/14 - 4
11-46744765-G-C c.352G>C p.Gly118Arg Missense 5/14 - 4
11-46744766-G-T c.353G>T p.Gly118Val Missense 5/14 - 2
11-46744772-T-C c.359T>C p.Val120Ala Missense 5/14 - 2
11-46744773-G-C c.360G>C p.Val120Val Synonymous 5/14 - 1
11-46744774-AA-GG c.361_362delinsGG p.Asn121Gly Missense 5/14 - 2
11-46744774-A-T c.361A>T p.Asn121Tyr Missense 5/14 - 1
11-46744776-C-A c.363C>A p.Asn121Lys Missense 5/14 - 1
11-46744776-C-G c.363C>G p.Asn121Lys Missense 5/14 - 1
11-46744778-T-G c.365T>G p.Ile122Ser Missense 5/14 - 1
11-46744780-AC-TG c.367_368delinsTG p.Thr123Cys Missense 5/14 - 1
11-46744780-A-G c.367A>G p.Thr123Ala Missense 5/14 - 2
11-46744781-C-T c.368C>T p.Thr123Ile Missense 5/14 - 1
11-46744783-CG-AA c.370_371delinsAA p.Arg124Lys Missense 5/14 - 1
11-46744783-CGG-AGC c.370_372delinsAGC p.Arg124Ser Missense 5/14 - 1
11-46744784-G-A c.371G>A p.Arg124Gln Missense 5/14 - 1
11-46744786-T-A c.373T>A p.Ser125Thr Missense 5/14 - 1
11-46744787-C-T c.374C>T p.Ser125Leu Missense 5/14 - 1
11-46744789-G-A c.376G>A p.Gly126Ser Missense 5/14 - 1
11-46744791-C-A c.378C>A p.Gly126Gly Synonymous 5/14 - 1
11-46744791-C-G c.378C>G p.Gly126Gly Synonymous 5/14 - 1
11-46744791-C-T c.378C>T p.Gly126Gly Synonymous 5/14 - 1
11-46744795-GAG-ATC c.382_384delinsATC p.Glu128Ile Missense 5/14 - 1
11-46744797-AGTGCCAGC-A c.384_391del p.Glu128Aspfs*9 Frameshift 5/14 - 1
11-46744798-GTG-G c.385_386del p.Cys129Profs*10 Frameshift 5/14 - 1
11-46744798-T-A c.385T>A p.Cys129Ser Missense 5/14 - 2
11-46744798-TG-GC c.385_386delinsGC p.Cys129Ala Missense 5/14 - 1
11-46744799-G-C c.386G>C p.Cys129Ser Missense 5/14 - 2
11-46744799-G-A c.386G>A p.Cys129Tyr Missense 5/14 - 1
11-46744804-C-T c.391C>T p.Leu131Leu Synonymous 5/14 - 2
11-46744804-CT-GC c.391_392delinsGC p.Leu131Ala Missense 5/14 - 1
11-46744806-A-C c.393A>C p.Leu131Leu Synonymous 5/14 - 1
11-46744806-A-G c.393A>G p.Leu131Leu Synonymous 5/14 - 1
11-46744806-A-T c.393A>T p.Leu131Leu Synonymous 5/14 - 1
11-46744810-AGG-CAT c.397_399delinsCAT p.Arg133His Missense 5/14 - 1
11-46744810-A-T c.397A>T p.Arg133Trp Missense 5/14 - 2
11-46744812-GG-G c.399del p.Ser134Valfs*43 Frameshift 5/14 - 1
11-46744813-AG-GC c.400_401delinsGC p.Ser134Ala Missense 5/14 - 1
11-46744813-AG-TT c.400_401delinsTT p.Ser134Phe Missense 5/14 - 1
11-46744816-C-G c.403C>G p.Arg135Gly Missense 5/14 - 1
11-46744816-CGC-AAG c.403_405delinsAAG p.Arg135Lys Missense 5/14 - 1
11-46744816-CGC-GAG c.403_405delinsGAG p.Arg135Glu Missense 5/14 - 1
11-46744816-CG-GC c.403_404delinsGC p.Arg135Ala Missense 5/14 - 1
11-46744817-G-A c.404G>A p.Arg135His Missense 5/14 - 2
11-46744817-GC-AA c.404_405delinsAA p.Arg135Gln Missense 5/14 - 1
11-46744817-G-T c.404G>T p.Arg135Leu Missense 5/14 - 1
11-46744818-C-A c.405C>A p.Arg135Arg Synonymous 5/14 - 1
11-46744818-C-G c.405C>G p.Arg135Arg Synonymous 5/14 - 1
11-46744818-C-T c.405C>T p.Arg135Arg Synonymous 5/14 - 1
11-46744820-A-T c.407A>T p.Tyr136Phe Missense 5/14 - 3
11-46744822-CCC-C c.409_410del p.Pro137Thrfs*2 Frameshift 5/14 - 1
11-46744823-C-G c.410C>G p.Pro137Arg Missense 5/14 - 3
11-46744823-C-T c.410C>T p.Pro137Leu Missense 5/14 - 1
11-46744824-A-C c.411A>C p.Pro137Pro Synonymous 5/14 - 1
11-46744824-A-G c.411A>G p.Pro137Pro Synonymous 5/14 - 1
11-46744824-A-T c.411A>T p.Pro137Pro Synonymous 5/14 - 1
11-46744828-A-G c.415A>G p.Lys139Glu Missense 5/14 - 1
11-46744830-G-A c.417G>A p.Lys139Lys Synonymous 5/14 - 1
11-46744833-T-A c.420T>A p.Pro140Pro Synonymous 5/14 - 1
11-46744833-T-C c.420T>C p.Pro140Pro Synonymous 5/14 - 1
11-46744833-T-G c.420T>G p.Pro140Pro Synonymous 5/14 - 1
11-46744834-G-C c.421G>C p.Glu141Gln Missense 5/14 - 1
11-46744925-G-A c.423-7G>A - IntronicSNV - 5/13 19
11-46744925-G-C c.423-7G>C - IntronicSNV - 5/13 20
11-46744925-G-T c.423-7G>T - IntronicSNV - 5/13 19
11-46744936-AAC-CAA c.427_429delinsCAA p.Asn143Gln Missense 6/14 - 1
11-46744941-C-A c.432C>A p.Ser144Ser Synonymous 6/14 - 1
11-46744943-C-A c.434C>A p.Thr145Asn Missense 6/14 - 1
11-46744943-CT-TG c.434_435delinsTG p.Thr145Met Missense 6/14 - 2
11-46744945-AC-TG c.436_437delinsTG p.Thr146Cys Missense 6/14 - 1
11-46744947-C-A c.438C>A p.Thr146Thr Synonymous 6/14 - 2
11-46744947-C-G c.438C>G p.Thr146Thr Synonymous 6/14 - 2
11-46744947-C-T c.438C>T p.Thr146Thr Synonymous 6/14 - 2
11-46744952-C-T c.443C>T p.Pro148Leu Missense 6/14 - 1
11-46744954-GGG-AGC c.445_447delinsAGC p.Gly149Ser Missense 6/14 - 1
11-46744955-G-A c.446G>A p.Gly149Glu Missense 6/14 - 1
11-46744958-C-G c.449C>G p.Ala150Gly Missense 6/14 - 1
11-46744958-C-T c.449C>T p.Ala150Val Missense 6/14 - 4
11-46744960-G-A c.451G>A p.Asp151Asn Missense 6/14 - 1
11-46744960-GA-CC c.451_452delinsCC p.Asp151Pro Missense 6/14 - 1
11-46744960-G-C c.451G>C p.Asp151His Missense 6/14 - 1
11-46744963-CC-C c.454del p.Leu152Tyrfs*25 Frameshift 6/14 - 1
11-46744963-C-T c.454C>T p.Leu152Leu Synonymous 6/14 - 1
11-46744964-CT-C c.455del p.Leu152Hisfs*25 Frameshift 6/14 - 1
11-46744972-A-C c.463A>C p.Asn155His Missense 6/14 - 6
11-46744972-GAAT-G c.463_465del p.Asn155del InFrameDeletion 6/14 - 1
11-46744975-TT-CG c.466_467delinsCG p.Phe156Arg Missense 6/14 - 1
11-46744976-T-G c.467T>G p.Phe156Cys Missense 6/14 - 1
11-46744978-T-A c.469T>A p.Cys157Ser Missense 6/14 - 1
11-46744978-T-C c.469T>C p.Cys157Arg Missense 6/14 - 1
11-46744978-TGC-CAA c.469_471delinsCAA p.Cys157Gln Missense 6/14 - 1
11-46744979-G-C c.470G>C p.Cys157Ser Missense 6/14 - 1
11-46744980-C-T c.471C>T p.Cys157Cys Synonymous 6/14 - 1
11-46744981-C-T c.472C>T p.Arg158Cys Missense 6/14 - 1
11-46744982-G-A c.473G>A p.Arg158His Missense 6/14 - 1
11-46744982-GC-AA c.473_474delinsAA p.Arg158Gln Missense 6/14 - 1
11-46744984-AA-GC c.475_476delinsGC p.Asn159Ala Missense 6/14 - 1
11-46744987-C-A c.478C>A p.Pro160Thr Missense 6/14 - 1
11-46744987-CC-TG c.478_479delinsTG p.Pro160Cys Missense 6/14 - 1
11-46744989-C-G c.480C>G p.Pro160Pro Synonymous 6/14 - 1
11-46744989-C-T c.480C>T p.Pro160Pro Synonymous 6/14 - 1
11-46744993-AG-GC c.484_485delinsGC p.Ser162Ala Missense 6/14 - 2
11-46744993-AG-TA c.484_485delinsTA p.Ser162Tyr Missense 6/14 - 1
11-46745000-ACCAC-A c.491_494del p.Thr164Argfs*12 Frameshift 6/14 - 1
11-46745001-CC-C c.492del p.Thr165Argfs*12 Frameshift 6/14 - 1
11-46745002-A-G c.493A>G p.Thr165Ala Missense 6/14 - 1
11-46745003-C-G c.494C>G p.Thr165Arg Missense 6/14 - 32
11-46745003-C-T c.494C>T p.Thr165Met Missense 6/14 - 39
11-46745006-G-A c.497G>A p.Gly166Glu Missense 6/14 - 1
11-46745011-T-C c.502T>C p.Trp168Arg Missense 6/14 - 1
11-46745017-CT-C c.508del p.Tyr170Thrfs*7 Frameshift 6/14 - 1
11-46745020-A-G c.511A>G p.Thr171Ala Missense 6/14 - 2
11-46745020-CAC-C c.511_512del p.Thr171Tyrfs*45 Frameshift 6/14 - 1
11-46745021-C-T c.512C>T p.Thr171Ile Missense 6/14 - 1
11-46745021-CT-TG c.512_513delinsTG p.Thr171Met Missense 6/14 - 1
11-46745023-A-T c.514A>T p.Thr172Ser Missense 6/14 - 1
11-46745024-C-G c.515C>G p.Thr172Arg Missense 6/14 - 1
11-46745027-A-AAGTA c.518_519insAGTA p.Asp173Glufs*45 Frameshift 6/14 - 1
11-46745027-A-C c.518A>C p.Asp173Ala Missense 6/14 - 2
11-46745029-CC-TG c.520_521delinsTG p.Pro174Cys Missense 6/14 - 1
11-46745037-G-A c.528G>A p.Val176Val Synonymous 6/14 - 1
11-46745038-AG-CA c.529_530delinsCA p.Arg177Gln Missense 6/14 - 1
11-46745041-AG-CC c.532_533delinsCC p.Arg178Pro Missense 6/14 - 1
11-46745041-AG-GC c.532_533delinsGC p.Arg178Ala Missense 6/14 - 1
11-46745041-AGG-CAT c.532_534delinsCAT p.Arg178His Missense 6/14 - 1
11-46745041-AG-TA c.532_533delinsTA p.Arg178* Nonsense 6/14 - 1
11-46745042-G-A c.533G>A p.Arg178Lys Missense 6/14 - 3
11-46745044-CA-GC c.535_536delinsGC p.Gln179Ala Missense 6/14 - 1
11-46745044-C-T c.535C>T p.Gln179* Nonsense 6/14 - 1
11-46745045-A-G c.536A>G p.Gln179Arg Missense 6/14 - 1
11-46745047-G-A c.538G>A p.Glu180Lys Missense 6/14 - 1
11-46745048-A-G c.539A>G p.Glu180Gly Missense 6/14 - 2
11-46745048-GAA-G c.539_540del p.Glu180Valfs*36 Frameshift 6/14 - 1
11-46745049-A-AA c.540dup p.Cys181Metfs*36 Frameshift 6/14 - 1
11-46745050-TG-GC c.541_542delinsGC p.Cys181Ala Missense 6/14 - 1
11-46745060-C-T c.551C>T p.Pro184Leu Missense 6/14 - 1
11-46745065-T-A c.556T>A p.Cys186Ser Missense 6/14 - 4
11-46745066-G-C c.557G>C p.Cys186Ser Missense 6/14 - 4
11-46745066-G-A c.557G>A p.Cys186Tyr Missense 6/14 - 1
11-46745861-C-A c.559+793C>A - IntronicSNV - 6/13 3
11-46745861-C-G c.559+793C>G - IntronicSNV - 6/13 3
11-46745861-C-T c.559+793C>T - IntronicSNV - 6/13 3
11-46746258-G-C c.560-1151G>C - IntronicSNV - 6/13 6
11-46747065-C-G c.560-344C>G - IntronicSNV - 6/13 5
11-46747065-C-T c.560-344C>T - IntronicSNV - 6/13 5
11-46747410-C-A c.561C>A p.Gly187Gly Synonymous 7/14 - 1
11-46747410-C-G c.561C>G p.Gly187Gly Synonymous 7/14 - 1
11-46747410-C-T c.561C>T p.Gly187Gly Synonymous 7/14 - 1
11-46747414-G-A c.565G>A p.Asp189Asn Missense 7/14 - 1
11-46747424-C-A c.575C>A p.Thr192Asn Missense 7/14 - 1
11-46747424-C-T c.575C>T p.Thr192Ile Missense 7/14 - 1
11-46747435-AC-TG c.586_587delinsTG p.Thr196Cys Missense 7/14 - 1
11-46747435-A-G c.586A>G p.Thr196Ala Missense 7/14 - 1
11-46747438-C-A c.589C>A p.Pro197Thr Missense 7/14 - 1
11-46747438-C-G c.589C>G p.Pro197Ala Missense 7/14 - 1
11-46747438-C-T c.589C>T p.Pro197Ser Missense 7/14 - 3
11-46747439-CA-AT c.590_591delinsAT p.Pro197His Missense 7/14 - 1
11-46747439-C-G c.590C>G p.Pro197Arg Missense 7/14 - 2
11-46747439-C-T c.590C>T p.Pro197Leu Missense 7/14 - 2
11-46747440-A-G c.591A>G p.Pro197Pro Synonymous 7/14 - 1
11-46747441-C-T c.592C>T p.Arg198Cys Missense 7/14 - 1
11-46747443-C-G c.594C>G p.Arg198Arg Synonymous 7/14 - 1
11-46747447-G-A c.598G>A p.Glu200Lys Missense 7/14 - 3
11-46747448-A-G c.599A>G p.Glu200Gly Missense 7/14 - 1
11-46747451-G-C c.602G>C p.Gly201Ala Missense 7/14 - 1
11-46747451-GC-AG c.602_603delinsAG p.Gly201Glu Missense 7/14 - 2
11-46747453-T-C c.604T>C p.Ser202Pro Missense 7/14 - 1
11-46747454-C-G c.605C>G p.Ser202Cys Missense 7/14 - 1
11-46747455-C-A c.606C>A p.Ser202Ser Synonymous 7/14 - 1
11-46747455-C-G c.606C>G p.Ser202Ser Synonymous 7/14 - 1
11-46747455-C-T c.606C>T p.Ser202Ser Synonymous 7/14 - 1
11-46747456-AG-GC c.607_608delinsGC p.Ser203Ala Missense 7/14 - 1
11-46747456-A-T c.607A>T p.Ser203Cys Missense 7/14 - 1
11-46747457-G-A c.608G>A p.Ser203Asn Missense 7/14 - 1
11-46747458-T-C c.609T>C p.Ser203Ser Synonymous 7/14 - 1
11-46747459-G-C c.610G>C p.Val204Leu Missense 7/14 - 1
11-46747459-G-T c.610G>T p.Val204Leu Missense 7/14 - 1
11-46747462-AA-CT c.613_614delinsCT p.Asn205Leu Missense 7/14 - 1
11-46747464-T-C c.615T>C p.Asn205Asn Synonymous 7/14 - 1
11-46747465-CTG-TGT c.616_618delinsTGT p.Leu206Cys Missense 7/14 - 1
11-46747468-T-C c.619T>C p.Ser207Pro Missense 7/14 - 1
11-46747474-C-T c.625C>T p.Pro209Ser Missense 7/14 - 1
11-46747475-C-T c.626C>T p.Pro209Leu Missense 7/14 - 1
11-46747477-T-C c.628T>C p.Leu210Leu Synonymous 7/14 - 1
11-46747479-G-A c.630G>A p.Leu210Leu Synonymous 7/14 - 1
11-46747478-T-G c.629T>G p.Leu210Trp Missense 7/14 - 22
11-46747481-A-G c.632A>G p.Glu211Gly Missense 7/14 - 2
11-46747481-GAGCAGTGTGT-G c.632_641del p.Glu211Alafs*14 Frameshift 7/14 - 1
11-46747483-C-T c.634C>T p.Gln212* Nonsense 7/14 - 1
11-46747487-G-A c.638G>A p.Cys213Tyr Missense 7/14 - 2
11-46747491-C-A c.642C>A p.Val214Val Synonymous 7/14 - 1
11-46747493-C-T c.644C>T p.Pro215Leu Missense 7/14 - 1
11-46747495-G-A c.646G>A p.Asp216Asn Missense 7/14 - 1
11-46747496-A-C c.647A>C p.Asp216Ala Missense 7/14 - 1
11-46747497-T-A c.648T>A p.Asp216Glu Missense 7/14 - 1
11-46747497-T-C c.648T>C p.Asp216Asp Synonymous 7/14 - 1
11-46747497-T-G c.648T>G p.Asp216Glu Missense 7/14 - 1
11-46747498-C-CC c.649dup p.Arg217Profs*53 Frameshift 7/14 - 1
11-46747498-CG-GA c.649_650delinsGA p.Arg217Glu Missense 7/14 - 1
11-46747498-CG-GC c.649_650delinsGC p.Arg217Ala Missense 7/14 - 1
11-46747498-CG-TA c.649_650delinsTA p.Arg217* Nonsense 7/14 - 1
11-46747499-GGGGGCAGCAGTACCAGGGGC-CAATGGTGCCACCACTGGGTTA c.650_670delinsCAATGGTGCCACCACTGGGTTA p.Arg217Profs*8 Frameshift 7/14 - 1
11-46747501-G-A c.652G>A p.Gly218Arg Missense 7/14 - 2
11-46747501-G-C c.652G>C p.Gly218Arg Missense 7/14 - 2
11-46747501-GG-AC c.652_653delinsAC p.Gly218Thr Missense 7/14 - 1
11-46747501-GGG-AGC c.652_654delinsAGC p.Gly218Ser Missense 7/14 - 1
11-46747502-G-C c.653G>C p.Gly218Ala Missense 7/14 - 1
11-46747505-A-G c.656A>G p.Gln219Arg Missense 7/14 - 1
11-46747508-A-G c.659A>G p.Gln220Arg Missense 7/14 - 1
11-46747514-A-C c.665A>C p.Gln222Pro Missense 7/14 - 1
11-46747514-A-G c.665A>G p.Gln222Arg Missense 7/14 - 1
11-46747516-GGG-AGC c.667_669delinsAGC p.Gly223Ser Missense 7/14 - 1
11-46747518-G-A c.669G>A p.Gly223Gly Synonymous 7/14 - 1
11-46747518-G-C c.669G>C p.Gly223Gly Synonymous 7/14 - 1
11-46747518-G-T c.669G>T p.Gly223Gly Synonymous 7/14 - 1
11-46747519-CG-GC c.670_671delinsGC p.Arg224Ala Missense 7/14 - 1
11-46747520-GC-AA c.671_672delinsAA p.Arg224Gln Missense 7/14 - 1
11-46747525-G-A c.676G>A p.Ala226Thr Missense 7/14 - 2
11-46747526-C-G c.677C>G p.Ala226Gly Missense 7/14 - 1
11-46747526-C-T c.677C>T p.Ala226Val Missense 7/14 - 10
11-46747528-G-A c.679G>A p.Val227Met Missense 7/14 - 2
11-46747529-T-C c.680T>C p.Val227Ala Missense 7/14 - 1
11-46747533-C-A c.684C>A p.Thr228Thr Synonymous 7/14 - 1
11-46747533-C-G c.684C>G p.Thr228Thr Synonymous 7/14 - 1
11-46747533-C-T c.684C>T p.Thr228Thr Synonymous 7/14 - 1
11-46747534-A-G c.685A>G p.Thr229Ala Missense 7/14 - 2
11-46747535-C-T c.686C>T p.Thr229Ile Missense 7/14 - 1
11-46747537-C-A c.688C>A p.His230Asn Missense 7/14 - 1
11-46747537-C-T c.688C>T p.His230Tyr Missense 7/14 - 1
11-46747539-AT-A c.690del p.His230Glnfs*16 Frameshift 7/14 - 1
11-46747540-GGG-AGC c.691_693delinsAGC p.Gly231Ser Missense 7/14 - 1
11-46747543-C-T c.694C>T p.Leu232Phe Missense 7/14 - 3
11-46747547-C-T c.698C>T p.Pro233Leu Missense 7/14 - 3
11-46747555-G-A c.706G>A p.Ala236Thr Missense 7/14 - 2
11-46747555-G-C c.706G>C p.Ala236Pro Missense 7/14 - 1
11-46747561-GC-CT c.712_713delinsCT p.Ala238Leu Missense 7/14 - 1
11-46747562-C-T c.713C>T p.Ala238Val Missense 7/14 - 1
11-46747564-A-AT c.715_716insT p.Ser239Metfs*31 Frameshift 7/14 - 1
11-46747564-AGC-TGA c.715_717delinsTGA p.Ser239* Nonsense 7/14 - 1
11-46747564-AG-GA c.715_716delinsGA p.Ser239Asp Missense 7/14 - 2
11-46747565-AGCG-A c.716_718del p.Ser239_Ala240delinsThr MultiAAMissense 7/14 - 1
11-46747565-G-A c.716G>A p.Ser239Asn Missense 7/14 - 1
11-46747567-G-A c.718G>A p.Ala240Thr Missense 7/14 - 1
11-46747570-C-G c.721C>G p.Gln241Glu Missense 7/14 - 1
11-46747571-A-G c.722A>G p.Gln241Arg Missense 7/14 - 1
11-46747577-A-T c.728A>T p.Lys243Met Missense 7/14 - 2
11-46747578-AGGCCCTGAGCAAGCACCAGGA-A c.729_749del p.Lys243_Asp250delinsAsn MultiAAMissense 7/14 - 1
11-46747579-G-A c.730G>A p.Ala244Thr Missense 7/14 - 2
11-46747580-CC-AG c.731_732delinsAG p.Ala244Glu Missense 7/14 - 1
11-46747581-C-A c.732C>A p.Ala244Ala Synonymous 7/14 - 1
11-46747581-C-G c.732C>G p.Ala244Ala Synonymous 7/14 - 1
11-46747581-C-T c.732C>T p.Ala244Ala Synonymous 7/14 - 1
11-46747582-CTG-TTT c.733_735delinsTTT p.Leu245Phe Missense 7/14 - 1
11-46747585-A-G c.736A>G p.Ser246Gly Missense 7/14 - 1
11-46747585-AG-CC c.736_737delinsCC p.Ser246Pro Missense 7/14 - 1
11-46747585-AG-GA c.736_737delinsGA p.Ser246Asp Missense 7/14 - 1
11-46747585-AG-TT c.736_737delinsTT p.Ser246Phe Missense 7/14 - 1
11-46747588-A-G c.739A>G p.Lys247Glu Missense 7/14 - 1
11-46747591-C-T c.742C>T p.His248Tyr Missense 7/14 - 2
11-46747597-GAC-AAG c.748_750delinsAAG p.Asp250Lys Missense 7/14 - 1
11-46747599-C-A c.750C>A p.Asp250Glu Missense 7/14 - 1
11-46747599-C-G c.750C>G p.Asp250Glu Missense 7/14 - 1
11-46747604-A-G c.755A>G p.Asn252Ser Missense 7/14 - 1
11-46747607-CA-GG c.758_759delinsGG p.Ser253Trp Missense 7/14 - 1
11-46747612-G-C c.763G>C p.Val255Leu Missense 7/14 - 1
11-46747612-G-T c.763G>T p.Val255Leu Missense 7/14 - 1
11-46747612-GTG-ATC c.763_765delinsATC p.Val255Ile Missense 7/14 - 1
11-46747612-GT-TG c.763_764delinsTG p.Val255Trp Missense 7/14 - 1
11-46747618-C-G c.769C>G p.Leu257Val Missense 7/14 - 2
11-46747618-C-T c.769C>T p.Leu257Leu Synonymous 7/14 - 1
11-46747628-A-C c.779A>C p.Asn260Thr Missense 7/14 - 2
11-46747628-AC-TG c.779_780delinsTG p.Asn260Met Missense 7/14 - 1
11-46747635-GCC-G c.786_787del p.Cys262Trpfs*7 Frameshift 7/14 - 1
11-46747636-C-A c.787C>A p.Arg263Ser Missense 7/14 - 2
11-46747636-CGC-AAG c.787_789delinsAAG p.Arg263Lys Missense 7/14 - 9
11-46747636-C-T c.787C>T p.Arg263Cys Missense 7/14 - 1
11-46747637-G-A c.788G>A p.Arg263His Missense 7/14 - 1
11-46747639-A-C c.790A>C p.Asn264His Missense 7/14 - 1
11-46747648-GG-TA c.799_800delinsTA p.Gly267* Nonsense 7/14 - 2
11-46747649-GG-AC c.800_801delinsAC p.Gly267Asp Missense 7/14 - 2
11-46747651-G-A c.802G>A p.Asp268Asn Missense 7/14 - 1
11-46747651-GG-G c.802del p.Asp268Metfs*112 Frameshift 7/14 - 1
11-46747654-G-C c.805G>C p.Glu269Gln Missense 7/14 - 1
11-46747655-A-C c.806A>C p.Glu269Ala Missense 7/14 - 2
11-46747656-G-GCTTTATGAGCCCCAAGA c.807_808insCTTTATGAGCCCCAAGA p.Glu270Leufs*116 Frameshift 7/14 - 1
11-46747657-G-A c.808G>A p.Glu270Lys Missense 7/14 - 2
11-46747657-GAG-AAC c.808_810delinsAAC p.Glu270Asn Missense 7/14 - 2
11-46747657-G-T c.808G>T p.Glu270* Nonsense 7/14 - 1
11-46747660-G-A c.811G>A p.Gly271Ser Missense 7/14 - 1
11-46747660-G-C c.811G>C p.Gly271Arg Missense 7/14 - 1
11-46747662-C-T c.813C>T p.Gly271Gly Synonymous 7/14 - 1
11-46747663-GTG-ATC c.814_816delinsATC p.Val272Ile Missense 7/14 - 1
11-46747664-T-C c.815T>C p.Val272Ala Missense 7/14 - 1
11-46747667-G-A c.818G>A p.Trp273* Nonsense 7/14 - 1
11-46747667-TGGTGCTATGTGGCCGGGAAGC-T c.818_838del p.Trp273_Pro280delinsSer MultiAAMissense 7/14 - 1
11-46747669-GT-G c.820del p.Cys274Alafs*106 Frameshift 7/14 - 1
11-46747670-G-A c.821G>A p.Cys274Tyr Missense 7/14 - 2
11-46747674-T-A c.825T>A p.Tyr275* Nonsense 7/14 - 1
11-46747674-T-G c.825T>G p.Tyr275* Nonsense 7/14 - 1
11-46747684-AA-GC c.835_836delinsGC p.Lys279Ala Missense 7/14 - 4
11-46747685-AA-A c.836del p.Lys279Serfs*101 Frameshift 7/14 - 1
11-46747686-G-C c.837G>C p.Lys279Asn Missense 7/14 - 1
11-46747686-G-T c.837G>T p.Lys279Asn Missense 7/14 - 1
11-46747688-C-T c.839C>T p.Pro280Leu Missense 7/14 - 2
11-46747691-G-A c.842G>A p.Gly281Asp Missense 7/14 - 1
11-46747691-G-C c.842G>C p.Gly281Ala Missense 7/14 - 1
11-46747695-C-T c.846C>T p.Asp282Asp Synonymous 7/14 - 1
11-46747696-T-C c.847T>C p.Phe283Leu Missense 7/14 - 2
11-46747696-TT-GC c.847_848delinsGC p.Phe283Ala Missense 7/14 - 2
11-46747698-T-A c.849T>A p.Phe283Leu Missense 7/14 - 2
11-46747698-T-G c.849T>G p.Phe283Leu Missense 7/14 - 2
11-46747700-G-A c.851G>A p.Gly284Glu Missense 7/14 - 3
11-46747700-G-C c.851G>C p.Gly284Ala Missense 7/14 - 1
11-46747702-TA-GC c.853_854delinsGC p.Tyr285Ala Missense 7/14 - 1
11-46747708-GA-CC c.859_860delinsCC p.Asp287Pro Missense 7/14 - 1
11-46747708-GA-CG c.859_860delinsCG p.Asp287Arg Missense 7/14 - 1
11-46747709-A-C c.860A>C p.Asp287Ala Missense 7/14 - 1
11-46747710-C-A c.861C>A p.Asp287Glu Missense 7/14 - 1
11-46747710-C-G c.861C>G p.Asp287Glu Missense 7/14 - 1
11-46747710-C-T c.861C>T p.Asp287Asp Synonymous 7/14 - 1
11-46747714-AA-TG c.865_866delinsTG p.Asn289Cys Missense 7/14 - 1
11-46747720-TG-GC c.871_872delinsGC p.Cys291Ala Missense 7/14 - 1
11-46747979-T-A c.875-69T>A - IntronicSNV - 7/13 1
11-46747979-T-C c.875-69T>C - IntronicSNV - 7/13 2
11-46747979-T-G c.875-69T>G - IntronicSNV - 7/13 1
11-46748050-G-A c.877G>A p.Glu293Lys Missense 8/14 - 1
11-46748051-A-C c.878A>C p.Glu293Ala Missense 8/14 - 2
11-46748053-G-A c.880G>A p.Ala294Thr Missense 8/14 - 1
11-46748053-G-T c.880G>T p.Ala294Ser Missense 8/14 - 1
11-46748054-C-T c.881C>T p.Ala294Val Missense 8/14 - 2
11-46748056-G-A c.883G>A p.Val295Met Missense 8/14 - 1
11-46748059-G-A c.886G>A p.Glu296Lys Missense 8/14 - 1
11-46748059-GA-CC c.886_887delinsCC p.Glu296Pro Missense 8/14 - 1
11-46748063-A-G c.890A>G p.Glu297Gly Missense 8/14 - 1
11-46748065-G-A c.892G>A p.Glu298Lys Missense 8/14 - 1
11-46748065-GA-AG c.892_893delinsAG p.Glu298Arg Missense 8/14 - 1
11-46748065-GGAGA-G c.892_895del p.Glu298Glnfs*81 Frameshift 8/14 - 1
11-46748067-G-C c.894G>C p.Glu298Asp Missense 8/14 - 11
11-46748067-G-T c.894G>T p.Glu298Asp Missense 8/14 - 11
11-46748069-C-G c.896C>G p.Thr299Arg Missense 8/14 - 1
11-46748072-G-C c.899G>C p.Gly300Ala Missense 8/14 - 2
11-46748074-G-A c.901G>A p.Asp301Asn Missense 8/14 - 1
11-46748077-G-A c.904G>A p.Gly302Arg Missense 8/14 - 2
11-46748081-T-C c.908T>C p.Leu303Pro Missense 8/14 - 1
11-46748083-G-A c.910G>A p.Asp304Asn Missense 8/14 - 1
11-46748086-G-A c.913G>A p.Glu305Lys Missense 8/14 - 1
11-46748095-AGA-A c.922_923del p.Asp308Glnfs*11 Frameshift 8/14 - 1
11-46748095-G-A c.922G>A p.Asp308Asn Missense 8/14 - 1
11-46748098-AG-CA c.925_926delinsCA p.Arg309Gln Missense 8/14 - 2
11-46748098-AG-GC c.925_926delinsGC p.Arg309Ala Missense 8/14 - 2
11-46748101-G-A c.928G>A p.Ala310Thr Missense 8/14 - 1
11-46748102-C-T c.929C>T p.Ala310Val Missense 8/14 - 1
11-46748107-G-T c.934G>T p.Glu312* Nonsense 8/14 - 1
11-46748108-A-G c.935A>G p.Glu312Gly Missense 8/14 - 1
11-46748110-GGG-AGC c.937_939delinsAGC p.Gly313Ser Missense 8/14 - 1
11-46748111-GG-AC c.938_939delinsAC p.Gly313Asp Missense 8/14 - 1
11-46748113-CG-GC c.940_941delinsGC p.Arg314Ala Missense 8/14 - 1
11-46748113-CGT-AAG c.940_942delinsAAG p.Arg314Lys Missense 8/14 - 2
11-46748113-C-T c.940C>T p.Arg314Cys Missense 8/14 - 1
11-46748117-ACCGCCACCAGTGAG-A c.944_957del p.Thr315Ilefs*79 Frameshift 8/14 - 1
11-46748117-C-T c.944C>T p.Thr315Ile Missense 8/14 - 6
11-46748120-C-A c.947C>A p.Ala316Asp Missense 8/14 - 1
11-46748122-A-AA c.949dup p.Thr317Asnfs*3 Frameshift 8/14 - 1
11-46748123-CC-AG c.950_951delinsAG p.Thr317Lys Missense 8/14 - 1
11-46748127-T-TC c.954_955insC p.Glu319Argfs*80 Frameshift 8/14 - 1
11-46748128-G-A c.955G>A p.Glu319Lys Missense 8/14 - 2
11-46748129-A-G c.956A>G p.Glu319Gly Missense 8/14 - 1
11-46748130-G-A c.957G>A p.Glu319Glu Synonymous 8/14 - 1
11-46748132-A-G c.959A>G p.Tyr320Cys Missense 8/14 - 2
11-46748138-C-T c.965C>T p.Thr322Ile Missense 8/14 - 2
11-46748141-T-TT c.968dup p.Phe324Leufs*75 Frameshift 8/14 - 1
11-46748144-T-C c.971T>C p.Phe324Ser Missense 8/14 - 1
11-46748146-A-G c.973A>G p.Asn325Asp Missense 8/14 - 1
11-46748149-C-T c.976C>T p.Pro326Ser Missense 8/14 - 1
11-46748152-AG-GC c.979_980delinsGC p.Arg327Ala Missense 8/14 - 1
11-46748153-G-A c.980G>A p.Arg327Lys Missense 8/14 - 1
11-46748156-C-T c.983C>T p.Thr328Ile Missense 8/14 - 1
11-46748162-GC-AG c.989_990delinsAG p.Gly330Glu Missense 8/14 - 2
11-46748167-G-A c.994G>A p.Gly332Arg Missense 8/14 - 2
11-46748167-G-C c.994G>C p.Gly332Arg Missense 8/14 - 2
11-46748168-G-A c.995G>A p.Gly332Glu Missense 8/14 - 1
11-46748168-G-T c.995G>T p.Gly332Val Missense 8/14 - 1
11-46748170-G-C c.997G>C p.Glu333Gln Missense 8/14 - 1
11-46748173-GC-TA c.1000_1001delinsTA p.Ala334* Nonsense 8/14 - 1
11-46748174-C-T c.1001C>T p.Ala334Val Missense 8/14 - 2
11-46748261-A-C c.1004A>C p.Asp335Ala Missense 9/14 - 3
11-46748263-T-A c.1006T>A p.Cys336Ser Missense 9/14 - 4
11-46748264-G-C c.1007G>C p.Cys336Ser Missense 9/14 - 4
11-46748266-G-A c.1009G>A p.Gly337Arg Missense 9/14 - 2
11-46748266-G-C c.1009G>C p.Gly337Arg Missense 9/14 - 2
11-46748266-GGG-TGT c.1009_1011delinsTGT p.Gly337Cys Missense 9/14 - 1
11-46748267-G-A c.1010G>A p.Gly337Glu Missense 9/14 - 2
11-46748272-C-G c.1015C>G p.Arg339Gly Missense 9/14 - 1
11-46748272-CGA-GAC c.1015_1017delinsGAC p.Arg339Asp Missense 9/14 - 1
11-46748276-C-T c.1019C>T p.Pro340Leu Missense 9/14 - 2
11-46748277-T-TG c.1020_1021insG p.Leu341Alafs*58 Frameshift 9/14 - 1
11-46748277-T-TT c.1020dup p.Leu341Serfs*58 Frameshift 9/14 - 1
11-46748281-T-C c.1024T>C p.Phe342Leu Missense 9/14 - 1
11-46748282-TTC-T c.1025_1026del p.Phe342* Frameshift 9/14 - 1
11-46748285-A-G c.1028A>G p.Glu343Gly Missense 9/14 - 1
11-46748292-AGTCGCTGGAGGACA-A c.1035_1048del p.Ser346Asnfs*48 Frameshift 9/14 - 1
11-46748301-G-GC c.1044_1045insC p.Asp349Argfs*50 Frameshift 9/14 - 1
11-46748303-A-C c.1046A>C p.Asp349Ala Missense 9/14 - 3
11-46748303-A-G c.1046A>G p.Asp349Gly Missense 9/14 - 1
11-46748311-G-A c.1054G>A p.Glu352Lys Missense 9/14 - 1
11-46748314-AGA-TGG c.1057_1059delinsTGG p.Arg353Trp Missense 9/14 - 1
11-46748314-AG-CA c.1057_1058delinsCA p.Arg353Gln Missense 9/14 - 4
11-46748314-AG-GC c.1057_1058delinsGC p.Arg353Ala Missense 9/14 - 1
11-46748317-AGAG-A c.1060_1062del p.Glu354del InFrameDeletion 9/14 - 1
11-46748317-G-A c.1060G>A p.Glu354Lys Missense 9/14 - 3
11-46748320-C-G c.1063C>G p.Leu355Val Missense 9/14 - 1
11-46748326-G-A c.1069G>A p.Glu357Lys Missense 9/14 - 5
11-46748326-G-C c.1069G>C p.Glu357Gln Missense 9/14 - 1
11-46748333-A-G c.1076A>G p.Tyr359Cys Missense 9/14 - 1
11-46748340-C-A c.1083C>A p.Asp361Glu Missense 9/14 - 2
11-46748340-C-G c.1083C>G p.Asp361Glu Missense 9/14 - 2
11-46748341-G-A c.1084G>A p.Gly362Arg Missense 9/14 - 2
11-46748341-G-C c.1084G>C p.Gly362Arg Missense 9/14 - 2
11-46748342-G-C c.1085G>C p.Gly362Ala Missense 9/14 - 1
11-46748342-GG-AC c.1085_1086delinsAC p.Gly362Asp Missense 9/14 - 1
11-46748348-ATT-A c.1091_1092del p.Ile364Serfs*34 Frameshift 9/14 - 2
11-46748349-T-A c.1092T>A p.Ile364Ile Synonymous 9/14 - 1
11-46748349-T-C c.1092T>C p.Ile364Ile Synonymous 9/14 - 1
11-46748349-TTGTGGAGGGCTCGGATG-T c.1092_1108del p.Val365Argfs*28 Frameshift 9/14 - 1
11-46748350-G-C c.1093G>C p.Val365Leu Missense 9/14 - 1
11-46748350-G-T c.1093G>T p.Val365Leu Missense 9/14 - 1
11-46748352-TGG-T c.1095_1096del p.Glu366Glyfs*32 Frameshift 9/14 - 1
11-46748356-G-C c.1099G>C p.Gly367Arg Missense 9/14 - 1
11-46748357-G-C c.1100G>C p.Gly367Ala Missense 9/14 - 1
11-46748358-C-G c.1101C>G p.Gly367Gly Synonymous 9/14 - 1
11-46748359-TC-GT c.1102_1103delinsGT p.Ser368Val Missense 9/14 - 1
11-46748361-G-GT c.1104_1105insT p.Asp369* Nonsense 9/14 - 1
11-46748364-T-C c.1107T>C p.Asp369Asp Synonymous 9/14 - 1
11-46748365-G-A c.1108G>A p.Ala370Thr Missense 9/14 - 1
11-46748372-AT-A c.1115del p.Ile372Thrfs*8 Frameshift 9/14 - 1
11-46748374-GG-AC c.1117_1118delinsAC p.Gly373Thr Missense 9/14 - 1
11-46748375-GC-AG c.1118_1119delinsAG p.Gly373Glu Missense 9/14 - 1
11-46748380-T-G c.1123T>G p.Ser375Ala Missense 9/14 - 1
11-46748382-CA-C c.1125del p.Pro376Leufs*4 Frameshift 9/14 - 1
11-46748383-C-T c.1126C>T p.Pro376Ser Missense 9/14 - 1
11-46748384-C-G c.1127C>G p.Pro376Arg Missense 9/14 - 1
11-46749553-A-G c.1138A>G p.Met380Val Missense 10/14 - 2
11-46749556-C-T c.1141C>T p.Leu381Phe Missense 10/14 - 1
11-46749556-CTT-ATG c.1141_1143delinsATG p.Leu381Met Missense 10/14 - 1
11-46749560-T-C c.1145T>C p.Phe382Ser Missense 10/14 - 1
11-46749562-CGG-GAC c.1147_1149delinsGAC p.Arg383Asp Missense 10/14 - 1
11-46749562-C-T c.1147C>T p.Arg383Trp Missense 10/14 - 3
11-46749563-GG-AT c.1148_1149delinsAT p.Arg383His Missense 10/14 - 2
11-46749566-A-G c.1151A>G p.Lys384Arg Missense 10/14 - 1
11-46749568-AG-GC c.1153_1154delinsGC p.Ser385Ala Missense 10/14 - 2
11-46749568-A-T c.1153A>T p.Ser385Cys Missense 10/14 - 1
11-46749570-T-C c.1155T>C p.Ser385Ser Synonymous 10/14 - 1
11-46749571-C-A c.1156C>A p.Pro386Thr Missense 10/14 - 1
11-46749572-C-T c.1157C>T p.Pro386Leu Missense 10/14 - 1
11-46749579-G-T c.1164G>T p.Glu388Asp Missense 10/14 - 1
11-46749580-CT-TC c.1165_1166delinsTC p.Leu389Ser Missense 10/14 - 1
11-46749581-TG-AT c.1166_1167delinsAT p.Leu389His Missense 10/14 - 1
11-46749586-TG-AC c.1171_1172delinsAC p.Cys391Thr Missense 10/14 - 1
11-46749592-G-A c.1177G>A p.Ala393Thr Missense 10/14 - 1
11-46749593-C-CA c.1178_1179insA p.Ser394Glnfs*5 Frameshift 10/14 - 1
11-46749595-AG-GC c.1180_1181delinsGC p.Ser394Ala Missense 10/14 - 2
11-46749598-CT-AA c.1183_1184delinsAA p.Leu395Asn Missense 10/14 - 1
11-46749601-A-G c.1186A>G p.Ile396Val Missense 10/14 - 1
11-46749602-ATC-A c.1187_1188del p.Ile396Lysfs*2 Frameshift 10/14 - 1
11-46749605-G-A c.1190G>A p.Ser397Asn Missense 10/14 - 2
11-46749611-GC-AA c.1196_1197delinsAA p.Arg399Gln Missense 10/14 - 2
11-46749612-C-A c.1197C>A p.Arg399Arg Synonymous 10/14 - 1
11-46749612-C-G c.1197C>G p.Arg399Arg Synonymous 10/14 - 1
11-46749619-C-G c.1204C>G p.Leu402Val Missense 10/14 - 1
11-46749621-C-A c.1206C>A p.Leu402Leu Synonymous 10/14 - 1
11-46749621-C-G c.1206C>G p.Leu402Leu Synonymous 10/14 - 2
11-46749621-C-T c.1206C>T p.Leu402Leu Synonymous 10/14 - 1
11-46749624-CC-C c.1209del p.Ala404Profs*62 Frameshift 10/14 - 2
11-46749627-C-A c.1212C>A p.Ala404Ala Synonymous 10/14 - 1
11-46749627-C-G c.1212C>G p.Ala404Ala Synonymous 10/14 - 1
11-46749627-C-T c.1212C>T p.Ala404Ala Synonymous 10/14 - 1
11-46749629-C-T c.1214C>T p.Ala405Val Missense 10/14 - 1
11-46749631-C-T c.1216C>T p.His406Tyr Missense 10/14 - 1
11-46749634-CTG-C c.1219_1220del p.Cys407Profs*14 Frameshift 10/14 - 1
11-46749636-C-A c.1221C>A p.Cys407* Nonsense 10/14 - 2
11-46749637-C-T c.1222C>T p.Leu408Phe Missense 10/14 - 1
11-46749637-CT-GC c.1222_1223delinsGC p.Leu408Ala Missense 10/14 - 1
11-46749638-T-G c.1223T>G p.Leu408Arg Missense 10/14 - 1
11-46749640-CT-GC c.1225_1226delinsGC p.Leu409Ala Missense 10/14 - 1
11-46749640-CTG-TTT c.1225_1227delinsTTT p.Leu409Phe Missense 10/14 - 1
11-46749641-T-C c.1226T>C p.Leu409Pro Missense 10/14 - 1
11-46749646-C-T c.1231C>T p.Pro411Ser Missense 10/14 - 1
11-46749648-G-A c.1233G>A p.Pro411Pro Synonymous 10/14 - 3
11-46749650-C-A c.1235C>A p.Pro412His Missense 10/14 - 1
11-46749650-C-G c.1235C>G p.Pro412Arg Missense 10/14 - 1
11-46749655-G-A c.1240G>A p.Asp414Asn Missense 10/14 - 1
11-46749656-A-C c.1241A>C p.Asp414Ala Missense 10/14 - 1
11-46749658-A-G c.1243A>G p.Lys415Glu Missense 10/14 - 1
11-46749659-AA-A c.1244del p.Lys415Argfs*51 Frameshift 10/14 - 1
11-46749661-AA-GC c.1246_1247delinsGC p.Asn416Ala Missense 10/14 - 1
11-46749666-C-G c.1251C>G p.Phe417Leu Missense 10/14 - 1
11-46749667-A-G c.1252A>G p.Thr418Ala Missense 10/14 - 1
11-46749680-T-G c.1265T>G p.Leu422Arg Missense 10/14 - 2
11-46749681-T-A c.1266T>A p.Leu422Leu Synonymous 10/14 - 2
11-46749681-T-C c.1266T>C p.Leu422Leu Synonymous 10/14 - 2
11-46749681-T-G c.1266T>G p.Leu422Leu Synonymous 10/14 - 2
11-46749682-C-G c.1267C>G p.Leu423Val Missense 10/14 - 1
11-46749682-C-T c.1267C>T p.Leu423Leu Synonymous 10/14 - 1
11-46749686-GT-G c.1271del p.Val424Glyfs*42 Frameshift 10/14 - 1
11-46749686-GTG-G c.1271_1272del p.Val424Alafs*15 Frameshift 10/14 - 1
11-46749687-G-A c.1272G>A p.Val424Val Synonymous 10/14 - 1
11-46749688-CGC-TGA c.1273_1275delinsTGA p.Arg425* Nonsense 10/14 - 1
11-46749689-G-A c.1274G>A p.Arg425His Missense 10/14 - 1
11-46749689-G-C c.1274G>C p.Arg425Pro Missense 10/14 - 1
11-46749692-T-A c.1277T>A p.Ile426Asn Missense 10/14 - 1
11-46749692-T-C c.1277T>C p.Ile426Thr Missense 10/14 - 1
11-46749700-CA-GC c.1285_1286delinsGC p.His429Ala Missense 10/14 - 1
11-46749701-A-C c.1286A>C p.His429Pro Missense 10/14 - 1
11-46749706-C-CC c.1291dup p.Arg431Profs*9 Frameshift 10/14 - 1
11-46749708-C-A c.1293C>A p.Arg431Arg Synonymous 10/14 - 1
11-46749708-C-G c.1293C>G p.Arg431Arg Synonymous 10/14 - 1
11-46749708-C-T c.1293C>T p.Arg431Arg Synonymous 10/14 - 1
11-46749709-A-G c.1294A>G p.Thr432Ala Missense 10/14 - 1
11-46750219-A-C c.1304A>C p.Glu435Ala Missense 11/14 - 1
11-46750221-CGA-AGC c.1306_1308delinsAGC p.Arg436Ser Missense 11/14 - 1
11-46750221-C-T c.1306C>T p.Arg436* Nonsense 11/14 - 2
11-46750222-G-A c.1307G>A p.Arg436Gln Missense 11/14 - 1
11-46750229-T-TT c.1314dup p.Glu439* Nonsense 11/14 - 1
11-46750230-G-A c.1315G>A p.Glu439Lys Missense 11/14 - 1
11-46750233-A-T c.1318A>T p.Lys440* Nonsense 11/14 - 1
11-46750236-A-G c.1321A>G p.Ile441Val Missense 11/14 - 1
11-46750245-TT-CC c.1330_1331delinsCC p.Leu444Pro Missense 11/14 - 1
11-46750248-G-A c.1333G>A p.Glu445Lys Missense 11/14 - 1
11-46750250-A-G c.1335A>G p.Glu445Glu Synonymous 11/14 - 1
11-46750257-TA-GC c.1342_1343delinsGC p.Tyr448Ala Missense 11/14 - 1
11-46750261-T-C c.1346T>C p.Ile449Thr Missense 11/14 - 1
11-46750263-CA-GG c.1348_1349delinsGG p.His450Gly Missense 11/14 - 1
11-46750264-A-G c.1349A>G p.His450Arg Missense 11/14 - 1
11-46750266-C-T c.1351C>T p.Pro451Ser Missense 11/14 - 1
11-46750267-C-T c.1352C>T p.Pro451Leu Missense 11/14 - 1
11-46750269-AG-CC c.1354_1355delinsCC p.Arg452Pro Missense 11/14 - 1
11-46750277-C-A c.1362C>A p.Asn454Lys Missense 11/14 - 1
11-46750277-C-G c.1362C>G p.Asn454Lys Missense 11/14 - 1
11-46750281-C-A c.1366C>A p.Arg456Arg Synonymous 11/14 - 1
11-46750281-CGG-GAC c.1366_1368delinsGAC p.Arg456Asp Missense 11/14 - 1
11-46750281-C-T c.1366C>T p.Arg456Trp Missense 11/14 - 1
11-46750282-G-A c.1367G>A p.Arg456Gln Missense 11/14 - 1
11-46750282-G-C c.1367G>C p.Arg456Pro Missense 11/14 - 1
11-46750282-GG-AT c.1367_1368delinsAT p.Arg456His Missense 11/14 - 1
11-46750282-G-T c.1367G>T p.Arg456Leu Missense 11/14 - 2
11-46750284-G-A c.1369G>A p.Glu457Lys Missense 11/14 - 1
11-46750285-A-C c.1370A>C p.Glu457Ala Missense 11/14 - 4
11-46750285-A-T c.1370A>T p.Glu457Val Missense 11/14 - 1
11-46750286-G-A c.1371G>A p.Glu457Glu Synonymous 11/14 - 1
11-46750286-G-C c.1371G>C p.Glu457Asp Missense 11/14 - 2
11-46750286-G-T c.1371G>T p.Glu457Asp Missense 11/14 - 2
11-46750287-A-T c.1372A>T p.Asn458Tyr Missense 11/14 - 2
11-46750292-TGGACCGGGACATTGC-T c.1377_1391del p.Asp460_Ala464del InFrameDeletion 11/14 - 1
11-46750293-G-A c.1378G>A p.Asp460Asn Missense 11/14 - 1
11-46750294-A-C c.1379A>C p.Asp460Ala Missense 11/14 - 1
11-46750296-CG-GA c.1381_1382delinsGA p.Arg461Glu Missense 11/14 - 1
11-46750296-C-T c.1381C>T p.Arg461Trp Missense 11/14 - 1
11-46750299-G-A c.1384G>A p.Asp462Asn Missense 11/14 - 1
11-46750302-A-T c.1387A>T p.Ile463Phe Missense 11/14 - 1
11-46750302-AT-GC c.1387_1388delinsGC p.Ile463Ala Missense 11/14 - 1
11-46750305-G-A c.1390G>A p.Ala464Thr Missense 11/14 - 1
11-46750318-T-G c.1403T>G p.Leu468Arg Missense 11/14 - 1
11-46750320-A-G c.1405A>G p.Lys469Glu Missense 11/14 - 2
11-46750321-A-G c.1406A>G p.Lys469Arg Missense 11/14 - 1
11-46750330-T-G c.1415T>G p.Val472Gly Missense 11/14 - 1
11-46750332-GCC-AAG c.1417_1419delinsAAG p.Ala473Lys Missense 11/14 - 1
11-46750333-C-G c.1418C>G p.Ala473Gly Missense 11/14 - 1
11-46750345-A-T c.1430A>T p.Tyr477Phe Missense 11/14 - 3
11-46750350-CA-GC c.1435_1436delinsGC p.His479Ala Missense 11/14 - 1
11-46750350-C-T c.1435C>T p.His479Tyr Missense 11/14 - 1
11-46750358-G-GA c.1443_1444insA p.Cys482Metfs*36 Frameshift 11/14 - 1
11-46750361-T-C c.1446T>C p.Cys482Cys Synonymous 11/14 - 1
11-46750362-CTG-TAT c.1447_1449delinsTAT p.Leu483Tyr Missense 11/14 - 1
11-46750362-CTG-TTT c.1447_1449delinsTTT p.Leu483Phe Missense 11/14 - 1
11-46750362-CT-TC c.1447_1448delinsTC p.Leu483Ser Missense 11/14 - 1
11-46750363-T-G c.1448T>G p.Leu483Arg Missense 11/14 - 1
11-46750368-G-A c.1453G>A p.Asp485Asn Missense 11/14 - 1
11-46750369-A-T c.1454A>T p.Asp485Val Missense 11/14 - 1
11-46750371-AGG-TGT c.1456_1458delinsTGT p.Arg486Cys Missense 11/14 - 1
11-46750374-G-A c.1459G>A p.Glu487Lys Missense 11/14 - 4
11-46750374-G-C c.1459G>C p.Glu487Gln Missense 11/14 - 6
11-46750376-G-C c.1461G>C p.Glu487Asp Missense 11/14 - 2
11-46750376-G-T c.1461G>T p.Glu487Asp Missense 11/14 - 2
11-46750379-G-A c.1464G>A p.Thr488Thr Synonymous 11/14 - 1
11-46750379-G-C c.1464G>C p.Thr488Thr Synonymous 11/14 - 1
11-46750379-G-T c.1464G>T p.Thr488Thr Synonymous 11/14 - 1
11-46750383-GCC-AAG c.1468_1470delinsAAG p.Ala490Lys Missense 11/14 - 1
11-46750386-A-G c.1471A>G p.Ser491Gly Missense 11/14 - 1
11-46750819-T-C c.1473-111T>C - IntronicSNV - 11/13 3
11-46750941-C-T c.1484C>T p.Ala495Val Missense 12/14 - 1
11-46750941-GCTG-G c.1484_1486del p.Ala495del InFrameDeletion 12/14 - 1
11-46750943-G-A c.1486G>A p.Gly496Arg Missense 12/14 - 1
11-46750944-G-C c.1487G>C p.Gly496Ala Missense 12/14 - 1
11-46750956-G-A c.1499G>A p.Arg500Gln Missense 12/14 - 2
11-46750956-G-C c.1499G>C p.Arg500Pro Missense 12/14 - 1
11-46750960-G-A c.1503G>A p.Val501Val Synonymous 12/14 - 1
11-46750965-GC-AG c.1508_1509delinsAG p.Gly503Glu Missense 12/14 - 1
11-46750967-T-A c.1510T>A p.Trp504Arg Missense 12/14 - 2
11-46750967-T-C c.1510T>C p.Trp504Arg Missense 12/14 - 2
11-46750976-C-T c.1519C>T p.Leu507Leu Synonymous 12/14 - 1
11-46750977-T-C c.1520T>C p.Leu507Pro Missense 12/14 - 2
11-46750979-AA-GC c.1522_1523delinsGC p.Lys508Ala Missense 12/14 - 1
11-46750979-A-C c.1522A>C p.Lys508Gln Missense 12/14 - 1
11-46750980-A-G c.1523A>G p.Lys508Arg Missense 12/14 - 1
11-46750982-G-A c.1525G>A p.Glu509Lys Missense 12/14 - 1
11-46750986-C-A c.1529C>A p.Thr510Lys Missense 12/14 - 1
11-46750986-C-T c.1529C>T p.Thr510Met Missense 12/14 - 1
11-46750987-G-A c.1530G>A p.Thr510Thr Synonymous 12/14 - 1
11-46750987-G-C c.1530G>C p.Thr510Thr Synonymous 12/14 - 1
11-46750987-G-T c.1530G>T p.Thr510Thr Synonymous 12/14 - 1
11-46750995-C-T c.1538C>T p.Ala513Val Missense 12/14 - 1
11-46750997-A-G c.1540A>G p.Asn514Asp Missense 12/14 - 1
11-46750998-A-G c.1541A>G p.Asn514Ser Missense 12/14 - 1
11-46750998-A-T c.1541A>T p.Asn514Ile Missense 12/14 - 2
11-46751004-G-C c.1547G>C p.Gly516Ala Missense 12/14 - 1
11-46751004-G-T c.1547G>T p.Gly516Val Missense 12/14 - 1
11-46751006-AA-GC c.1549_1550delinsGC p.Lys517Ala Missense 12/14 - 1
11-46751006-A-C c.1549A>C p.Lys517Gln Missense 12/14 - 1
11-46751009-G-A c.1552G>A p.Gly518Arg Missense 12/14 - 1
11-46751010-G-C c.1553G>C p.Gly518Ala Missense 12/14 - 2
11-46751018-A-G c.1561A>G p.Ser521Gly Missense 12/14 - 1
11-46751018-AG-TA c.1561_1562delinsTA p.Ser521Tyr Missense 12/14 - 1
11-46751022-T-C c.1565T>C p.Val522Ala Missense 12/14 - 1
11-46751025-T-G c.1568T>G p.Leu523Arg Missense 12/14 - 1
11-46751035-G-A c.1578G>A p.Val526Val Synonymous 12/14 - 1
11-46751048-G-A c.1591G>A p.Val531Met Missense 12/14 - 1
11-46751054-CG-GC c.1597_1598delinsGC p.Arg533Ala Missense 12/14 - 1
11-46751057-C-T c.1600C>T p.Pro534Ser Missense 12/14 - 1
11-46751063-TG-AC c.1606_1607delinsAC p.Cys536Thr Missense 12/14 - 2
11-46751067-A-AA c.1610dup p.Asp538Glyfs*9 Frameshift 12/14 - 1
11-46751070-A-G c.1613A>G p.Asp538Gly Missense 12/14 - 1
11-46751076-C-G c.1619C>G p.Thr540Ser Missense 12/14 - 1
11-46751078-C-T c.1621C>T p.Arg541Trp Missense 12/14 - 3
11-46751079-G-A c.1622G>A p.Arg541Gln Missense 12/14 - 1
11-46751082-TC-AG c.1625_1626delinsAG p.Ile542Lys Missense 12/14 - 1
11-46751084-C-A c.1627C>A p.Arg543Ser Missense 12/14 - 1
11-46751085-G-A c.1628G>A p.Arg543His Missense 12/14 - 2
11-46751085-G-T c.1628G>T p.Arg543Leu Missense 12/14 - 2
11-46751093-GA-CG c.1636_1637delinsCG p.Asp546Arg Missense 12/14 - 2
11-46751096-AA-GC c.1639_1640delinsGC p.Asn547Ala Missense 12/14 - 1
11-46751097-A-G c.1640A>G p.Asn547Ser Missense 12/14 - 1
11-46751099-AT-GC c.1642_1643delinsGC p.Met548Ala Missense 12/14 - 1
11-46751105-T-A c.1648T>A p.Cys550Ser Missense 12/14 - 1
11-46751106-G-C c.1649G>C p.Cys550Ser Missense 12/14 - 1
11-46751401-T-C c.1654+290T>C - IntronicSNV - 12/13 4
11-46754649-C-T c.1654+3538C>T - IntronicSNV - 12/13 3
11-46755388-G-C c.1654+4277G>C - IntronicSNV - 12/13 2
11-46755464-A-G c.1654+4353A>G - IntronicSNV - 12/13 1
11-46758383-C-T c.1655-2215C>T - IntronicSNV - 12/13 1
11-46760609-G-T c.1666G>T p.Asp556Tyr Missense 13/14 - 1
11-46760609-TG-T c.1666del p.Asp556Metfs*19 Frameshift 13/14 - 1
11-46760610-A-C c.1667A>C p.Asp556Ala Missense 13/14 - 1
11-46760612-G-A c.1669G>A p.Glu557Lys Missense 13/14 - 1
11-46760615-G-A c.1672G>A p.Gly558Arg Missense 13/14 - 9
11-46760615-G-C c.1672G>C p.Gly558Arg Missense 13/14 - 9
11-46760621-CG-GC c.1678_1679delinsGC p.Arg560Ala Missense 13/14 - 1
11-46760633-TG-AC c.1690_1691delinsAC p.Cys564Thr Missense 13/14 - 1
11-46760634-G-A c.1691G>A p.Cys564Tyr Missense 13/14 - 6
11-46760636-G-A c.1693G>A p.Glu565Lys Missense 13/14 - 1
11-46760643-A-G c.1700A>G p.Asp567Gly Missense 13/14 - 1
11-46760652-G-A c.1709G>A p.Gly570Glu Missense 13/14 - 1
11-46760652-G-C c.1709G>C p.Gly570Ala Missense 13/14 - 1
11-46760666-A-T c.1723A>T p.Lys575* Nonsense 13/14 - 3
11-46760756-G-A c.1726-59G>A - IntronicSNV - 13/13 20
11-46760816-G-A c.1727G>A p.Ser576Asn Missense 14/14 - 1
11-46760822-T-A c.1733T>A p.Phe578Tyr Missense 14/14 - 1
11-46760823-TT-T c.1734del p.Phe578Leufs*32 Frameshift 14/14 - 1
11-46760835-G-A c.1746G>A p.Trp582* Nonsense 14/14 - 1
11-46760837-A-G c.1748A>G p.Tyr583Cys Missense 14/14 - 1
11-46760843-T-C c.1754T>C p.Met585Thr Missense 14/14 - 1
11-46760854-T-G c.1765T>G p.Ser589Ala Missense 14/14 - 1
11-46760860-G-A c.1771G>A p.Gly591Ser Missense 14/14 - 1
11-46760866-GG-AC c.1777_1778delinsAC p.Gly593Thr Missense 14/14 - 1
11-46760869-TG-AC c.1780_1781delinsAC p.Cys594Thr Missense 14/14 - 2
11-46760871-GT-G c.1782del p.Cys594Trpfs*16 Frameshift 14/14 - 1
11-46760872-G-A c.1783G>A p.Asp595Asn Missense 14/14 - 2
11-46760873-A-C c.1784A>C p.Asp595Ala Missense 14/14 - 1
11-46760875-CG-TA c.1786_1787delinsTA p.Arg596* Nonsense 14/14 - 1
11-46760875-C-T c.1786C>T p.Arg596Trp Missense 14/14 - 1
11-46760876-G-A c.1787G>A p.Arg596Gln Missense 14/14 - 1
11-46760876-G-T c.1787G>T p.Arg596Leu Missense 14/14 - 2
11-46760879-A-C c.1790A>C p.Asp597Ala Missense 14/14 - 1
11-46760879-A-G c.1790A>G p.Asp597Gly Missense 14/14 - 1
11-46760881-G-A c.1792G>A p.Gly598Arg Missense 14/14 - 1
11-46760881-G-C c.1792G>C p.Gly598Arg Missense 14/14 - 1
11-46760886-A-AA c.1797dup p.Tyr600Ilefs*19 Frameshift 14/14 - 1
11-46760893-T-C c.1804T>C p.Phe602Leu Missense 14/14 - 1
11-46760895-C-A c.1806C>A p.Phe602Leu Missense 14/14 - 1
11-46760895-C-G c.1806C>G p.Phe602Leu Missense 14/14 - 1
11-46760898-C-G c.1809C>G p.Tyr603* Nonsense 14/14 - 1
11-46760899-A-G c.1810A>G p.Thr604Ala Missense 14/14 - 1
11-46760903-CAT-C c.1814_1815del p.His605Argfs*13 Frameshift 14/14 - 1
11-46760906-T-C c.1817T>C p.Val606Ala Missense 14/14 - 1
11-46760911-C-T c.1822C>T p.Arg608Cys Missense 14/14 - 1
11-46760913-C-T c.1824C>T p.Arg608Arg Synonymous 14/14 - 1
11-46760914-C-T c.1825C>T p.Leu609Leu Synonymous 14/14 - 1
11-46760914-CTG-TTT c.1825_1827delinsTTT p.Leu609Phe Missense 14/14 - 1
11-46760917-AA-GC c.1828_1829delinsGC p.Lys610Ala Missense 14/14 - 1
11-46760923-TG-GC c.1834_1835delinsGC p.Trp612Ala Missense 14/14 - 2
11-46760928-A-AA c.1839dup p.Gln614Thrfs*5 Frameshift 14/14 - 1
11-46760930-A-C c.1841A>C p.Gln614Pro Missense 14/14 - 1
11-46760932-A-T c.1843A>T p.Lys615* Nonsense 14/14 - 1
11-46760950-G-A c.1861G>A p.Gly621Arg Missense 14/14 - 1
11-46761055-G-A c.*97G>A - 3-UTRSNV 14/14 - 237