NSF N-ethylmaleimide sensitive factor, vesicle fusing ATPase

Canonical transcript: NM_006178

629 unique variant annotations were identified in 711 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
17-44668148-GGC-AAG c.7_9delinsAAG p.Gly3Lys Missense 1/21 - 1
17-44701622-G-A c.25G>A p.Ala9Thr Missense 2/21 - 1
17-44701625-AGA-CAT c.28_30delinsCAT p.Arg10His Missense 2/21 - 1
17-44701625-AG-GA c.28_29delinsGA p.Arg10Glu Missense 2/21 - 1
17-44701625-AG-GC c.28_29delinsGC p.Arg10Ala Missense 2/21 - 4
17-44701626-G-T c.29G>T p.Arg10Ile Missense 2/21 - 1
17-44701628-T-G c.31T>G p.Cys11Gly Missense 2/21 - 4
17-44701628-TG-AC c.31_32delinsAC p.Cys11Thr Missense 2/21 - 2
17-44701628-TG-CA c.31_32inv p.Cys11His Missense 2/21 - 1
17-44701628-TG-GA c.31_32delinsGA p.Cys11Asp Missense 2/21 - 7
17-44701628-TG-GC c.31_32delinsGC p.Cys11Ala Missense 2/21 - 46
17-44701628-TGT-GAG c.31_33delinsGAG p.Cys11Glu Missense 2/21 - 3
17-44701629-G-T c.32G>T p.Cys11Phe Missense 2/21 - 1
17-44701630-T-C c.33T>C p.Cys11Cys Synonymous 2/21 - 18
17-44701631-CC-GA c.34_35delinsGA p.Pro12Asp Missense 2/21 - 1
17-44701631-CC-TG c.34_35delinsTG p.Pro12Cys Missense 2/21 - 1
17-44701631-C-G c.34C>G p.Pro12Ala Missense 2/21 - 2
17-44701631-C-T c.34C>T p.Pro12Ser Missense 2/21 - 2
17-44701632-C-T c.35C>T p.Pro12Leu Missense 2/21 - 1
17-44701634-AC-CT c.37_38delinsCT p.Thr13Leu Missense 2/21 - 1
17-44701634-A-T c.37A>T p.Thr13Ser Missense 2/21 - 1
17-44701635-CA-AC c.38_39delinsAC p.Thr13Asn Missense 2/21 - 1
17-44701636-A-C c.39A>C p.Thr13Thr Synonymous 2/21 - 1
17-44701636-A-G c.39A>G p.Thr13Thr Synonymous 2/21 - 1
17-44701636-A-T c.39A>T p.Thr13Thr Synonymous 2/21 - 1
17-44701637-GA-AG c.40_41delinsAG p.Asp14Ser Missense 2/21 - 1
17-44701637-GA-CG c.40_41delinsCG p.Asp14Arg Missense 2/21 - 1
17-44701637-GAT-AAG c.40_42delinsAAG p.Asp14Lys Missense 2/21 - 1
17-44701637-GA-TG c.40_41delinsTG p.Asp14Cys Missense 2/21 - 1
17-44701637-GA-TT c.40_41delinsTT p.Asp14Phe Missense 2/21 - 1
17-44701638-A-C c.41A>C p.Asp14Ala Missense 2/21 - 7
17-44701639-T-A c.42T>A p.Asp14Glu Missense 2/21 - 1
17-44701639-T-G c.42T>G p.Asp14Glu Missense 2/21 - 1
17-44701640-G-A c.43G>A p.Glu15Lys Missense 2/21 - 1
17-44701640-GA-AG c.43_44delinsAG p.Glu15Arg Missense 2/21 - 1
17-44701640-GAA-TTT c.43_45delinsTTT p.Glu15Phe Missense 2/21 - 1
17-44701641-A-C c.44A>C p.Glu15Ala Missense 2/21 - 1
17-44701643-TT-CA c.46_47delinsCA p.Leu16Gln Missense 2/21 - 2
17-44701643-TT-GC c.46_47delinsGC p.Leu16Ala Missense 2/21 - 1
17-44701643-TT-GG c.46_47delinsGG p.Leu16Gly Missense 2/21 - 1
17-44701646-T-C c.49T>C p.Ser17Pro Missense 2/21 - 2
17-44701646-TC-AA c.49_50delinsAA p.Ser17Asn Missense 2/21 - 1
17-44701646-TC-AT c.49_50delinsAT p.Ser17Ile Missense 2/21 - 1
17-44701646-TC-CT c.49_50delinsCT p.Ser17Leu Missense 2/21 - 1
17-44701646-TC-GA c.49_50inv p.Ser17Asp Missense 2/21 - 2
17-44701646-TCT-GAG c.49_51delinsGAG p.Ser17Glu Missense 2/21 - 3
17-44701646-T-G c.49T>G p.Ser17Ala Missense 2/21 - 23
17-44701647-C-G c.50C>G p.Ser17Cys Missense 2/21 - 6
17-44701647-C-T c.50C>T p.Ser17Phe Missense 2/21 - 2
17-44701648-T-A c.51T>A p.Ser17Ser Synonymous 2/21 - 1
17-44701648-T-C c.51T>C p.Ser17Ser Synonymous 2/21 - 1
17-44701648-T-G c.51T>G p.Ser17Ser Synonymous 2/21 - 1
17-44701649-TTA-GAC c.52_54delinsGAC p.Leu18Asp Missense 2/21 - 1
17-44701649-TT-CC c.52_53delinsCC p.Leu18Pro Missense 2/21 - 2
17-44701649-TT-GA c.52_53delinsGA p.Leu18Glu Missense 2/21 - 3
17-44701649-TT-GC c.52_53delinsGC p.Leu18Ala Missense 2/21 - 4
17-44701652-AC-TA c.55_56delinsTA p.Thr19Tyr Missense 2/21 - 3
17-44701655-AA-GC c.58_59delinsGC p.Asn20Ala Missense 2/21 - 1
17-44701658-TG-GC c.61_62delinsGC p.Cys21Ala Missense 2/21 - 14
17-44701659-G-T c.62G>T p.Cys21Phe Missense 2/21 - 1
17-44701660-T-C c.63T>C p.Cys21Cys Synonymous 2/21 - 5
17-44701661-GCA-TGT c.64_66delinsTGT p.Ala22Cys Missense 2/21 - 2
17-44701662-CA-AC c.65_66delinsAC p.Ala22Asp Missense 2/21 - 1
17-44701662-C-G c.65C>G p.Ala22Gly Missense 2/21 - 1
17-44701664-GTT-AAG c.67_69delinsAAG p.Val23Lys Missense 2/21 - 2
17-44701665-T-A c.68T>A p.Val23Asp Missense 2/21 - 2
17-44701665-T-C c.68T>C p.Val23Ala Missense 2/21 - 1
17-44701665-TT-AG c.68_69delinsAG p.Val23Glu Missense 2/21 - 1
17-44701667-G-A c.70G>A p.Val24Met Missense 2/21 - 1
17-44701668-T-C c.71T>C p.Val24Ala Missense 2/21 - 1
17-44701670-AA-GG c.73_74delinsGG p.Asn25Gly Missense 2/21 - 1
17-44701673-G-A c.76G>A p.Glu26Lys Missense 2/21 - 2
17-44701674-A-C c.77A>C p.Glu26Ala Missense 2/21 - 1
17-44701674-A-G c.77A>G p.Glu26Gly Missense 2/21 - 1
17-44701676-A-G c.79A>G p.Lys27Glu Missense 2/21 - 2
17-44701679-G-A c.82G>A p.Asp28Asn Missense 2/21 - 1
17-44701679-GA-CG c.82_83delinsCG p.Asp28Arg Missense 2/21 - 1
17-44701679-GAT-AAG c.82_84delinsAAG p.Asp28Lys Missense 2/21 - 18
17-44701680-A-C c.83A>C p.Asp28Ala Missense 2/21 - 4
17-44701681-T-A c.84T>A p.Asp28Glu Missense 2/21 - 3
17-44701681-T-G c.84T>G p.Asp28Glu Missense 2/21 - 3
17-44701682-T-A c.85T>A p.Phe29Ile Missense 2/21 - 2
17-44701682-T-C c.85T>C p.Phe29Leu Missense 2/21 - 1
17-44701682-TT-CG c.85_86delinsCG p.Phe29Arg Missense 2/21 - 1
17-44701684-C-A c.87C>A p.Phe29Leu Missense 2/21 - 1
17-44701684-C-G c.87C>G p.Phe29Leu Missense 2/21 - 1
17-44701685-CA-AT c.88_89delinsAT p.Gln30Met Missense 2/21 - 1
17-44701685-CAG-AAC c.88_90delinsAAC p.Gln30Asn Missense 2/21 - 2
17-44701685-CAG-TAT c.88_90delinsTAT p.Gln30Tyr Missense 2/21 - 1
17-44701685-CAG-TTT c.88_90delinsTTT p.Gln30Phe Missense 2/21 - 1
17-44701685-CA-TG c.88_89inv p.Gln30Trp Missense 2/21 - 1
17-44701685-C-G c.88C>G p.Gln30Glu Missense 2/21 - 1
17-44701685-C-T c.88C>T p.Gln30* Nonsense 2/21 - 1
17-44701686-A-T c.89A>T p.Gln30Leu Missense 2/21 - 1
17-44701687-G-C c.90G>C p.Gln30His Missense 2/21 - 1
17-44701687-G-T c.90G>T p.Gln30His Missense 2/21 - 1
17-44701688-T-C c.91T>C p.Ser31Pro Missense 2/21 - 1
17-44701688-TC-AA c.91_92delinsAA p.Ser31Asn Missense 2/21 - 4
17-44701688-TC-CA c.91_92delinsCA p.Ser31His Missense 2/21 - 1
17-44701688-TC-CT c.91_92delinsCT p.Ser31Leu Missense 2/21 - 1
17-44701688-T-G c.91T>G p.Ser31Ala Missense 2/21 - 2
17-44701689-C-A c.92C>A p.Ser31Tyr Missense 2/21 - 1
17-44701690-T-A c.93T>A p.Ser31Ser Synonymous 2/21 - 1
17-44701690-T-C c.93T>C p.Ser31Ser Synonymous 2/21 - 1
17-44701690-T-G c.93T>G p.Ser31Ser Synonymous 2/21 - 1
17-44701691-GGC-TGA c.94_96delinsTGA p.Gly32* Nonsense 2/21 - 1
17-44701692-G-A c.95G>A p.Gly32Asp Missense 2/21 - 2
17-44701692-G-C c.95G>C p.Gly32Ala Missense 2/21 - 2
17-44701694-CA-GC c.97_98delinsGC p.Gln33Ala Missense 2/21 - 3
17-44703980-CA-GC c.100_101delinsGC p.His34Ala Missense 3/21 - 18
17-44703980-CA-GG c.100_101delinsGG p.His34Gly Missense 3/21 - 1
17-44703980-CA-TG c.100_101inv p.His34Cys Missense 3/21 - 8
17-44703980-C-G c.100C>G p.His34Asp Missense 3/21 - 1
17-44703982-T-A c.102T>A p.His34Gln Missense 3/21 - 1
17-44703982-T-G c.102T>G p.His34Gln Missense 3/21 - 1
17-44703983-GTG-TGT c.103_105delinsTGT p.Val35Cys Missense 3/21 - 3
17-44703986-AT-TG c.106_107delinsTG p.Ile36Cys Missense 3/21 - 1
17-44703989-G-C c.109G>C p.Val37Leu Missense 3/21 - 1
17-44703989-G-T c.109G>T p.Val37Leu Missense 3/21 - 1
17-44703990-T-A c.110T>A p.Val37Glu Missense 3/21 - 1
17-44703990-T-C c.110T>C p.Val37Ala Missense 3/21 - 2
17-44703992-AG-CA c.112_113delinsCA p.Arg38Gln Missense 3/21 - 1
17-44703992-AG-GC c.112_113delinsGC p.Arg38Ala Missense 3/21 - 3
17-44703995-A-T c.115A>T p.Thr39Ser Missense 3/21 - 1
17-44703996-C-A c.116C>A p.Thr39Asn Missense 3/21 - 2
17-44703996-C-G c.116C>G p.Thr39Ser Missense 3/21 - 1
17-44703998-TC-CA c.118_119delinsCA p.Ser40His Missense 3/21 - 1
17-44703998-TC-GA c.118_119inv p.Ser40Asp Missense 3/21 - 1
17-44703999-C-G c.119C>G p.Ser40Cys Missense 3/21 - 2
17-44704001-C-A c.121C>A p.Pro41Thr Missense 3/21 - 2
17-44704005-AT-GG c.125_126delinsGG p.Asn42Arg Missense 3/21 - 1
17-44704007-CAC-GAG c.127_129delinsGAG p.His43Glu Missense 3/21 - 1
17-44704007-CA-GC c.127_128delinsGC p.His43Ala Missense 3/21 - 7
17-44704007-CA-TG c.127_128inv p.His43Cys Missense 3/21 - 2
17-44704007-CA-TT c.127_128delinsTT p.His43Phe Missense 3/21 - 1
17-44704007-C-G c.127C>G p.His43Asp Missense 3/21 - 1
17-44704010-AG-GA c.130_131delinsGA p.Arg44Glu Missense 3/21 - 1
17-44704010-AG-GC c.130_131delinsGC p.Arg44Ala Missense 3/21 - 2
17-44704011-G-A c.131G>A p.Arg44Lys Missense 3/21 - 1
17-44704016-ACA-TGT c.136_138inv p.Thr46Cys Missense 3/21 - 1
17-44704016-A-G c.136A>G p.Thr46Ala Missense 3/21 - 1
17-44704017-C-T c.137C>T p.Thr46Ile Missense 3/21 - 1
17-44704020-T-A c.140T>A p.Phe47Tyr Missense 3/21 - 1
17-44704020-T-G c.140T>G p.Phe47Cys Missense 3/21 - 1
17-44704022-A-G c.142A>G p.Thr48Ala Missense 3/21 - 2
17-44704025-CTG-TTT c.145_147delinsTTT p.Leu49Phe Missense 3/21 - 1
17-44704028-AA-CT c.148_149delinsCT p.Lys50Leu Missense 3/21 - 1
17-44704028-AA-GC c.148_149delinsGC p.Lys50Ala Missense 3/21 - 1
17-44704028-AAG-TGT c.148_150delinsTGT p.Lys50Cys Missense 3/21 - 1
17-44704034-CA-GC c.154_155delinsGC p.His52Ala Missense 3/21 - 7
17-44704034-CA-TG c.154_155inv p.His52Cys Missense 3/21 - 3
17-44704034-CA-TT c.154_155delinsTT p.His52Phe Missense 3/21 - 1
17-44704035-A-G c.155A>G p.His52Arg Missense 3/21 - 1
17-44704038-C-G c.158C>G p.Pro53Arg Missense 3/21 - 2
17-44704040-T-C c.160T>C p.Ser54Pro Missense 3/21 - 2
17-44704040-TCG-AAC c.160_162delinsAAC p.Ser54Asn Missense 3/21 - 1
17-44704043-GT-CC c.163_164delinsCC p.Val55Pro Missense 3/21 - 1
17-44704044-T-C c.164T>C p.Val55Ala Missense 3/21 - 1
17-44704047-TT-AG c.167_168delinsAG p.Val56Glu Missense 3/21 - 1
17-44704053-GG-AC c.173_174delinsAC p.Gly58Asp Missense 3/21 - 1
17-44704061-GCA-TTT c.181_183delinsTTT p.Ala61Phe Missense 3/21 - 2
17-44704062-C-A c.182C>A p.Ala61Glu Missense 3/21 - 2
17-44704062-CA-AC c.182_183delinsAC p.Ala61Asp Missense 3/21 - 1
17-44704062-C-T c.182C>T p.Ala61Val Missense 3/21 - 1
17-44704063-A-C c.183A>C p.Ala61Ala Synonymous 3/21 - 1
17-44704063-A-G c.183A>G p.Ala61Ala Synonymous 3/21 - 1
17-44704063-A-T c.183A>T p.Ala61Ala Synonymous 3/21 - 1
17-44704064-TT-GC c.184_185delinsGC p.Phe62Ala Missense 3/21 - 1
17-44704067-AG-CA c.187_188delinsCA p.Ser63His Missense 3/21 - 1
17-44704067-AG-GC c.187_188delinsGC p.Ser63Ala Missense 3/21 - 1
17-44704067-A-T c.187A>T p.Ser63Cys Missense 3/21 - 2
17-44704070-TT-CC c.190_191delinsCC p.Leu64Pro Missense 3/21 - 1
17-44704073-C-G c.193C>G p.Pro65Ala Missense 3/21 - 1
17-44707777-AG-GA c.199_200delinsGA p.Arg67Glu Missense 4/21 - 2
17-44707777-AG-GC c.199_200delinsGC p.Arg67Ala Missense 4/21 - 5
17-44707780-AAA-CAT c.202_204delinsCAT p.Lys68His Missense 4/21 - 1
17-44707780-A-G c.202A>G p.Lys68Glu Missense 4/21 - 1
17-44707782-A-C c.204A>C p.Lys68Asn Missense 4/21 - 1
17-44707782-A-T c.204A>T p.Lys68Asn Missense 4/21 - 1
17-44707786-GC-TG c.208_209delinsTG p.Ala70Cys Missense 4/21 - 1
17-44707786-GC-TT c.208_209delinsTT p.Ala70Phe Missense 4/21 - 1
17-44707789-GGG-AGC c.211_213delinsAGC p.Gly71Ser Missense 4/21 - 1
17-44707790-G-C c.212G>C p.Gly71Ala Missense 4/21 - 1
17-44707790-GG-AC c.212_213delinsAC p.Gly71Asp Missense 4/21 - 2
17-44707792-CT-TG c.214_215delinsTG p.Leu72Cys Missense 4/21 - 1
17-44707795-TC-CG c.217_218delinsCG p.Ser73Arg Missense 4/21 - 1
17-44707795-TCT-GAG c.217_219delinsGAG p.Ser73Glu Missense 4/21 - 1
17-44707805-A-G c.227A>G p.Gln76Arg Missense 4/21 - 1
17-44707808-A-C c.230A>C p.Glu77Ala Missense 4/21 - 1
17-44707811-TA-AC c.233_234delinsAC p.Ile78Asn Missense 4/21 - 1
17-44707811-T-C c.233T>C p.Ile78Thr Missense 4/21 - 1
17-44707815-A-C c.237A>C p.Glu79Asp Missense 4/21 - 1
17-44707815-A-T c.237A>T p.Glu79Asp Missense 4/21 - 1
17-44707816-G-A c.238G>A p.Val80Ile Missense 4/21 - 1
17-44707816-G-C c.238G>C p.Val80Leu Missense 4/21 - 1
17-44714742-T-C c.239T>C p.Val80Ala Missense 5/21 - 3
17-44714742-TC-AG c.239_240delinsAG p.Val80Glu Missense 5/21 - 1
17-44714742-T-G c.239T>G p.Val80Gly Missense 5/21 - 1
17-44714745-C-T c.242C>T p.Ser81Phe Missense 5/21 - 1
17-44714747-TT-AG c.244_245delinsAG p.Leu82Arg Missense 5/21 - 1
17-44714750-TA-GC c.247_248delinsGC p.Tyr83Ala Missense 5/21 - 1
17-44714750-TAT-GAG c.247_249delinsGAG p.Tyr83Glu Missense 5/21 - 3
17-44714751-A-T c.248A>T p.Tyr83Phe Missense 5/21 - 5
17-44714759-G-A c.256G>A p.Asp86Asn Missense 5/21 - 2
17-44714759-GA-TT c.256_257delinsTT p.Asp86Phe Missense 5/21 - 1
17-44714759-G-C c.256G>C p.Asp86His Missense 5/21 - 1
17-44714763-A-G c.260A>G p.Lys87Arg Missense 5/21 - 1
17-44714765-GC-TG c.262_263delinsTG p.Ala88Cys Missense 5/21 - 2
17-44714766-C-A c.263C>A p.Ala88Asp Missense 5/21 - 1
17-44714766-CC-AG c.263_264delinsAG p.Ala88Glu Missense 5/21 - 1
17-44714767-C-A c.264C>A p.Ala88Ala Synonymous 5/21 - 1
17-44714767-C-G c.264C>G p.Ala88Ala Synonymous 5/21 - 1
17-44714767-C-T c.264C>T p.Ala88Ala Synonymous 5/21 - 1
17-44714771-C-G c.268C>G p.Gln90Glu Missense 5/21 - 1
17-44714774-T-A c.271T>A p.Cys91Ser Missense 5/21 - 1
17-44714774-TG-GC c.271_272delinsGC p.Cys91Ala Missense 5/21 - 3
17-44714774-TGT-GAG c.271_273delinsGAG p.Cys91Glu Missense 5/21 - 1
17-44714775-G-C c.272G>C p.Cys91Ser Missense 5/21 - 1
17-44714778-T-G c.275T>G p.Ile92Ser Missense 5/21 - 1
17-44714781-G-C c.278G>C p.Gly93Ala Missense 5/21 - 15
17-44714781-G-T c.278G>T p.Gly93Val Missense 5/21 - 1
17-44714783-A-G c.280A>G p.Thr94Ala Missense 5/21 - 1
17-44714784-C-A c.281C>A p.Thr94Lys Missense 5/21 - 1
17-44714784-C-T c.281C>T p.Thr94Ile Missense 5/21 - 1
17-44714789-AC-CA c.286_287delinsCA p.Thr96His Missense 5/21 - 1
17-44714789-ACC-TAA c.286_288delinsTAA p.Thr96* Nonsense 5/21 - 1
17-44714789-AC-TG c.286_287delinsTG p.Thr96Cys Missense 5/21 - 4
17-44714789-A-G c.286A>G p.Thr96Ala Missense 5/21 - 1
17-44714792-A-G c.289A>G p.Ile97Val Missense 5/21 - 1
17-44714796-A-C c.293A>C p.Glu98Ala Missense 5/21 - 1
17-44714802-A-C c.299A>C p.Asp100Ala Missense 5/21 - 1
17-44714804-T-C c.301T>C p.Phe101Leu Missense 5/21 - 1
17-44714806-C-A c.303C>A p.Phe101Leu Missense 5/21 - 1
17-44714806-C-G c.303C>G p.Phe101Leu Missense 5/21 - 1
17-44714807-CT-GG c.304_305delinsGG p.Leu102Gly Missense 5/21 - 2
17-44714807-CT-TC c.304_305delinsTC p.Leu102Ser Missense 5/21 - 2
17-44714808-T-C c.305T>C p.Leu102Pro Missense 5/21 - 2
17-44714810-CA-GC c.307_308delinsGC p.Gln103Ala Missense 5/21 - 1
17-44714810-C-T c.307C>T p.Gln103* Nonsense 5/21 - 1
17-44714813-AA-GC c.310_311delinsGC p.Lys104Ala Missense 5/21 - 1
17-44714813-A-G c.310A>G p.Lys104Glu Missense 5/21 - 1
17-44714815-A-C c.312A>C p.Lys104Asn Missense 5/21 - 1
17-44714815-A-T c.312A>T p.Lys104Asn Missense 5/21 - 1
17-44714816-AA-GC c.313_314delinsGC p.Lys105Ala Missense 5/21 - 3
17-44714816-A-G c.313A>G p.Lys105Glu Missense 5/21 - 2
17-44714817-A-G c.314A>G p.Lys105Arg Missense 5/21 - 1
17-44714819-AG-CC c.316_317delinsCC p.Ser106Pro Missense 5/21 - 2
17-44714819-A-C c.316A>C p.Ser106Arg Missense 5/21 - 1
17-44714821-C-A c.318C>A p.Ser106Arg Missense 5/21 - 1
17-44714821-C-G c.318C>G p.Ser106Arg Missense 5/21 - 1
17-44714822-AT-CA c.319_320delinsCA p.Ile107His Missense 5/21 - 1
17-44714822-ATT-GAG c.319_321delinsGAG p.Ile107Glu Missense 5/21 - 1
17-44714826-A-G c.323A>G p.Asp108Gly Missense 5/21 - 1
17-44714828-T-G c.325T>G p.Ser109Ala Missense 5/21 - 1
17-44714834-CCT-AAG c.331_333delinsAAG p.Pro111Lys Missense 5/21 - 1
17-44714837-TA-GC c.334_335delinsGC p.Tyr112Ala Missense 5/21 - 1
17-44714838-A-T c.335A>T p.Tyr112Phe Missense 5/21 - 1
17-44714840-G-A c.337G>A p.Asp113Asn Missense 5/21 - 2
17-44714843-ACC-CAA c.340_342delinsCAA p.Thr114Gln Missense 5/21 - 1
17-44714846-G-A c.343G>A p.Asp115Asn Missense 5/21 - 1
17-44714847-A-C c.344A>C p.Asp115Ala Missense 5/21 - 1
17-44714856-C-G c.353C>G p.Ala118Gly Missense 5/21 - 2
17-44714858-GC-CA c.355_356delinsCA p.Ala119Gln Missense 5/21 - 1
17-44714858-GC-CT c.355_356delinsCT p.Ala119Leu Missense 5/21 - 1
17-44714864-T-C c.361T>C p.Phe121Leu Missense 5/21 - 1
17-44714864-TT-GC c.361_362delinsGC p.Phe121Ala Missense 5/21 - 2
17-44714866-T-A c.363T>A p.Phe121Leu Missense 5/21 - 1
17-44714866-T-G c.363T>G p.Phe121Leu Missense 5/21 - 1
17-44714867-AT-GC c.364_365delinsGC p.Ile122Ala Missense 5/21 - 1
17-44714870-CAG-TGT c.367_369delinsTGT p.Gln123Cys Missense 5/21 - 1
17-44714876-TTC-ATG c.373_375delinsATG p.Phe125Met Missense 5/21 - 4
17-44714876-TTC-GAG c.373_375delinsGAG p.Phe125Glu Missense 5/21 - 1
17-44714877-TC-GG c.374_375delinsGG p.Phe125Trp Missense 5/21 - 1
17-44714883-AC-GG c.380_381delinsGG p.Asn127Arg Missense 5/21 - 1
17-44714883-A-T c.380A>T p.Asn127Ile Missense 5/21 - 1
17-44714885-CA-GG c.382_383delinsGG p.Gln128Gly Missense 5/21 - 1
17-44714887-G-C c.384G>C p.Gln128His Missense 5/21 - 1
17-44714887-G-T c.384G>T p.Gln128His Missense 5/21 - 1
17-44714900-G-A c.397G>A p.Gly133Arg Missense 5/21 - 3
17-44714900-G-C c.397G>C p.Gly133Arg Missense 5/21 - 3
17-44717426-TT-GC c.412_413delinsGC p.Phe138Ala Missense 6/21 - 1
17-44717427-T-C c.413T>C p.Phe138Ser Missense 6/21 - 1
17-44717427-T-G c.413T>G p.Phe138Cys Missense 6/21 - 1
17-44717429-AG-TT c.415_416delinsTT p.Ser139Phe Missense 6/21 - 1
17-44717430-G-A c.416G>A p.Ser139Asn Missense 6/21 - 1
17-44717436-A-T c.422A>T p.Asn141Ile Missense 6/21 - 1
17-44717441-AA-GC c.427_428delinsGC p.Lys143Ala Missense 6/21 - 1
17-44717441-A-G c.427A>G p.Lys143Glu Missense 6/21 - 1
17-44717444-CTT-ATG c.430_432delinsATG p.Leu144Met Missense 6/21 - 1
17-44717447-T-C c.433T>C p.Phe145Leu Missense 6/21 - 3
17-44717449-T-A c.435T>A p.Phe145Leu Missense 6/21 - 3
17-44717449-T-G c.435T>G p.Phe145Leu Missense 6/21 - 3
17-44717448-TT-GG c.434_435delinsGG p.Phe145Trp Missense 6/21 - 1
17-44717450-G-A c.436G>A p.Gly146Ser Missense 6/21 - 1
17-44717456-CT-GC c.442_443delinsGC p.Leu148Ala Missense 6/21 - 1
17-44717456-CTG-TTT c.442_444delinsTTT p.Leu148Phe Missense 6/21 - 1
17-44717459-GT-AC c.445_446inv p.Val149Thr Missense 6/21 - 1
17-44717459-GT-TA c.445_446delinsTA p.Val149* Nonsense 6/21 - 1
17-44717460-T-G c.446T>G p.Val149Gly Missense 6/21 - 1
17-44717462-AA-GC c.448_449delinsGC p.Lys150Ala Missense 6/21 - 3
17-44717462-A-T c.448A>T p.Lys150* Nonsense 6/21 - 1
17-44717465-G-A c.451G>A p.Asp151Asn Missense 6/21 - 1
17-44717465-GAC-TAA c.451_453delinsTAA p.Asp151* Nonsense 6/21 - 1
17-44717466-A-G c.452A>G p.Asp151Gly Missense 6/21 - 2
17-44717472-A-C c.458A>C p.Glu153Ala Missense 6/21 - 1
17-44717472-A-T c.458A>T p.Glu153Val Missense 6/21 - 1
17-44717481-A-C c.467A>C p.Asp156Ala Missense 6/21 - 2
17-44717483-C-G c.469C>G p.Pro157Ala Missense 6/21 - 1
17-44717486-AG-GT c.472_473delinsGT p.Ser158Val Missense 6/21 - 1
17-44717492-CT-GC c.478_479delinsGC p.Leu160Ala Missense 6/21 - 1
17-44717492-CT-TC c.478_479delinsTC p.Leu160Ser Missense 6/21 - 1
17-44717495-AA-GC c.481_482delinsGC p.Lys161Ala Missense 6/21 - 1
17-44717501-G-C c.487G>C p.Glu163Gln Missense 6/21 - 2
17-44717510-A-T c.496A>T p.Thr166Ser Missense 6/21 - 1
17-44717516-AA-GC c.502_503delinsGC p.Lys168Ala Missense 6/21 - 1
17-44717516-A-G c.502A>G p.Lys168Glu Missense 6/21 - 1
17-44717519-AG-GA c.505_506delinsGA p.Arg169Glu Missense 6/21 - 1
17-44717519-AG-GC c.505_506delinsGC p.Arg169Ala Missense 6/21 - 1
17-44717520-G-A c.506G>A p.Arg169Lys Missense 6/21 - 1
17-44717522-CA-GC c.508_509delinsGC p.Gln170Ala Missense 6/21 - 1
17-44717525-AA-CT c.511_512delinsCT p.Lys171Leu Missense 6/21 - 1
17-44717525-AA-GC c.511_512delinsGC p.Lys171Ala Missense 6/21 - 1
17-44717526-A-G c.512A>G p.Lys171Arg Missense 6/21 - 1
17-44718016-T-C c.521T>C p.Val174Ala Missense 7/21 - 1
17-44718018-GGA-AGC c.523_525delinsAGC p.Gly175Ser Missense 7/21 - 1
17-44718019-GA-AC c.524_525delinsAC p.Gly175Asp Missense 7/21 - 2
17-44718021-C-G c.526C>G p.Leu176Val Missense 7/21 - 1
17-44718021-CT-GC c.526_527delinsGC p.Leu176Ala Missense 7/21 - 1
17-44718021-CT-GG c.526_527delinsGG p.Leu176Gly Missense 7/21 - 1
17-44718030-G-A c.535G>A p.Gly179Arg Missense 7/21 - 1
17-44718030-G-C c.535G>C p.Gly179Arg Missense 7/21 - 1
17-44718030-GGA-TGT c.535_537delinsTGT p.Gly179Cys Missense 7/21 - 1
17-44718031-G-C c.536G>C p.Gly179Ala Missense 7/21 - 1
17-44718033-AA-TG c.538_539delinsTG p.Asn180Cys Missense 7/21 - 1
17-44718039-C-G c.544C>G p.Gln182Glu Missense 7/21 - 2
17-44718040-A-G c.545A>G p.Gln182Arg Missense 7/21 - 1
17-44718045-G-A c.550G>A p.Ala184Thr Missense 7/21 - 1
17-44718046-C-T c.551C>T p.Ala184Val Missense 7/21 - 4
17-44718048-T-A c.553T>A p.Phe185Ile Missense 7/21 - 1
17-44718048-T-G c.553T>G p.Phe185Val Missense 7/21 - 1
17-44718048-TT-CA c.553_554delinsCA p.Phe185His Missense 7/21 - 1
17-44718048-TTT-AAG c.553_555delinsAAG p.Phe185Lys Missense 7/21 - 1
17-44718052-A-G c.557A>G p.Glu186Gly Missense 7/21 - 1
17-44718067-C-A c.572C>A p.Ser191* Nonsense 7/21 - 1
17-44718078-CTT-ATG c.583_585delinsATG p.Leu195Met Missense 7/21 - 1
17-44720475-GCT-TGG c.595_597delinsTGG p.Ala199Trp Missense 8/21 - 1
17-44720475-G-T c.595G>T p.Ala199Ser Missense 8/21 - 2
17-44720476-CT-AG c.596_597inv p.Ala199Glu Missense 8/21 - 1
17-44720479-A-G c.599A>G p.Lys200Arg Missense 8/21 - 1
17-44720487-G-C c.607G>C p.Glu203Gln Missense 8/21 - 1
17-44720488-A-C c.608A>C p.Glu203Ala Missense 8/21 - 1
17-44720490-AA-GC c.610_611delinsGC p.Asn204Ala Missense 8/21 - 1
17-44720493-CG-GC c.613_614delinsGC p.Arg205Ala Missense 8/21 - 3
17-44720496-CA-GC c.616_617delinsGC p.Gln206Ala Missense 8/21 - 1
17-44720499-T-G c.619T>G p.Ser207Ala Missense 8/21 - 2
17-44720502-AT-GC c.622_623delinsGC p.Ile208Ala Missense 8/21 - 1
17-44720503-T-C c.623T>C p.Ile208Thr Missense 8/21 - 1
17-44720505-A-T c.625A>T p.Ile209Phe Missense 8/21 - 1
17-44720505-AT-GC c.625_626delinsGC p.Ile209Ala Missense 8/21 - 1
17-44720508-AA-GC c.628_629delinsGC p.Asn210Ala Missense 8/21 - 1
17-44720508-AA-GG c.628_629delinsGG p.Asn210Gly Missense 8/21 - 1
17-44720511-C-G c.631C>G p.Pro211Ala Missense 8/21 - 1
17-44720514-G-A c.634G>A p.Asp212Asn Missense 8/21 - 1
17-44720515-A-C c.635A>C p.Asp212Ala Missense 8/21 - 2
17-44720517-TG-GC c.637_638delinsGC p.Trp213Ala Missense 8/21 - 2
17-44720520-AA-GC c.640_641delinsGC p.Asn214Ala Missense 8/21 - 1
17-44720523-TT-GC c.643_644delinsGC p.Phe215Ala Missense 8/21 - 2
17-44720527-A-C c.647A>C p.Glu216Ala Missense 8/21 - 1
17-44720529-AA-GC c.649_650delinsGC p.Lys217Ala Missense 8/21 - 2
17-44720532-A-C c.652A>C p.Met218Leu Missense 8/21 - 1
17-44720532-A-T c.652A>T p.Met218Leu Missense 8/21 - 1
17-44720532-AT-GC c.652_653delinsGC p.Met218Ala Missense 8/21 - 1
17-44720532-AT-GG c.652_653delinsGG p.Met218Gly Missense 8/21 - 1
17-44720532-ATG-TTT c.652_654delinsTTT p.Met218Phe Missense 8/21 - 1
17-44720536-G-C c.656G>C p.Gly219Ala Missense 8/21 - 1
17-44720538-AT-GC c.658_659delinsGC p.Ile220Ala Missense 8/21 - 1
17-44720547-CTA-GAC c.667_669delinsGAC p.Leu223Asp Missense 8/21 - 1
17-44720547-CT-GC c.667_668delinsGC p.Leu223Ala Missense 8/21 - 1
17-44720548-T-G c.668T>G p.Leu223Arg Missense 8/21 - 1
17-44720553-A-C c.673A>C p.Lys225Gln Missense 8/21 - 1
17-44720563-CA-GT c.683_684delinsGT p.Ser228Cys Missense 8/21 - 4
17-44720566-A-C c.686A>C p.Asp229Ala Missense 8/21 - 1
17-44720568-AT-GC c.688_689delinsGC p.Ile230Ala Missense 8/21 - 1
17-44720575-G-A c.695G>A p.Arg232Gln Missense 8/21 - 1
17-44720577-CG-GC c.697_698delinsGC p.Arg233Ala Missense 8/21 - 1
17-44720578-GA-AT c.698_699delinsAT p.Arg233His Missense 8/21 - 2
17-44720586-GC-TT c.706_707delinsTT p.Ala236Phe Missense 8/21 - 1
17-44720589-T-G c.709T>G p.Ser237Ala Missense 8/21 - 1
17-44720592-C-G c.712C>G p.Arg238Gly Missense 8/21 - 1
17-44720592-CGA-ATG c.712_714delinsATG p.Arg238Met Missense 8/21 - 1
17-44720610-ATT-GAG c.730_732delinsGAG p.Ile244Glu Missense 8/21 - 1
17-44720614-T-C c.734T>C p.Val245Ala Missense 8/21 - 1
17-44720617-A-C c.737A>C p.Glu246Ala Missense 8/21 - 1
17-44751780-G-T c.746G>T p.Gly249Val Missense 9/21 - 1
17-44751785-AA-GC c.751_752delinsGC p.Lys251Ala Missense 9/21 - 1
17-44751788-C-T c.754C>T p.His252Tyr Missense 9/21 - 1
17-44751790-T-A c.756T>A p.His252Gln Missense 9/21 - 1
17-44751790-T-G c.756T>G p.His252Gln Missense 9/21 - 1
17-44751824-T-A c.790T>A p.Cys264Ser Missense 9/21 - 1
17-44751824-TG-AC c.790_791delinsAC p.Cys264Thr Missense 9/21 - 1
17-44751824-TG-GC c.790_791delinsGC p.Cys264Ala Missense 9/21 - 2
17-44751825-G-C c.791G>C p.Cys264Ser Missense 9/21 - 1
17-44751830-AA-GC c.796_797delinsGC p.Lys266Ala Missense 9/21 - 5
17-44751830-A-C c.796A>C p.Lys266Gln Missense 9/21 - 1
17-44751842-GC-TG c.808_809delinsTG p.Ala270Cys Missense 9/21 - 1
17-44751846-G-A c.812G>A p.Arg271Gln Missense 9/21 - 1
17-44751848-CA-GC c.814_815delinsGC p.Gln272Ala Missense 9/21 - 1
17-44751849-A-G c.815A>G p.Gln272Arg Missense 9/21 - 1
17-44751855-GC-AG c.821_822delinsAG p.Gly274Glu Missense 9/21 - 4
17-44751858-A-G c.824A>G p.Lys275Arg Missense 9/21 - 1
17-44751869-GCA-TGT c.835_837delinsTGT p.Ala279Cys Missense 9/21 - 2
17-44751874-A-C c.840A>C p.Arg280Ser Missense 9/21 - 1
17-44751874-A-T c.840A>T p.Arg280Ser Missense 9/21 - 1
17-44751875-G-A c.841G>A p.Glu281Lys Missense 9/21 - 1
17-44751894-G-A c.860G>A p.Gly287Glu Missense 9/21 - 1
17-44751899-G-C c.865G>C p.Glu289Gln Missense 9/21 - 1
17-44751902-AT-GC c.868_869delinsGC p.Ile290Ala Missense 9/21 - 1
17-44751905-CT-GC c.871_872delinsGC p.Leu291Ala Missense 9/21 - 3
17-44751914-TA-CT c.880_881delinsCT p.Tyr294Leu Missense 9/21 - 1
17-44751914-TA-GC c.880_881delinsGC p.Tyr294Ala Missense 9/21 - 2
17-44751914-TAT-AAG c.880_882delinsAAG p.Tyr294Lys Missense 9/21 - 1
17-44751914-T-C c.880T>C p.Tyr294His Missense 9/21 - 4
17-44751920-G-A c.886G>A p.Gly296Arg Missense 9/21 - 1
17-44751920-G-C c.886G>C p.Gly296Arg Missense 9/21 - 1
17-44751929-G-C c.895G>C p.Glu299Gln Missense 9/21 - 1
17-44751931-G-C c.897G>C p.Glu299Asp Missense 9/21 - 1
17-44751931-G-T c.897G>T p.Glu299Asp Missense 9/21 - 1
17-44751932-GC-TG c.898_899delinsTG p.Ala300Cys Missense 9/21 - 1
17-44751933-C-T c.899C>T p.Ala300Val Missense 9/21 - 2
17-44751936-AC-GG c.902_903delinsGG p.Asn301Arg Missense 9/21 - 1
17-44751938-A-C c.904A>C p.Ile302Leu Missense 9/21 - 1
17-44751941-CG-GC c.907_908delinsGC p.Arg303Ala Missense 9/21 - 1
17-44751951-T-G c.917T>G p.Phe306Cys Missense 9/21 - 1
17-44751960-C-G c.926C>G p.Ala309Gly Missense 9/21 - 1
17-44751962-G-A c.928G>A p.Glu310Lys Missense 9/21 - 1
17-44751966-A-C c.932A>C p.Glu311Ala Missense 9/21 - 1
17-44751968-G-A c.934G>A p.Glu312Lys Missense 9/21 - 1
17-44751969-A-C c.935A>C p.Glu312Ala Missense 9/21 - 1
17-44751970-G-C c.936G>C p.Glu312Asp Missense 9/21 - 1
17-44751970-G-T c.936G>T p.Glu312Asp Missense 9/21 - 1
17-44762589-G-A c.946-7680G>A - IntronicSNV - 9/20 1
17-44770269-CT-GC c.946_947delinsGC p.Leu316Ala Missense 10/21 - 1
17-44770275-GC-TA c.952_953delinsTA p.Ala318Tyr Missense 10/21 - 1
17-44770278-AA-GC c.955_956delinsGC p.Asn319Ala Missense 10/21 - 1
17-44770279-A-C c.956A>C p.Asn319Thr Missense 10/21 - 1
17-44770287-T-A c.964T>A p.Leu322Met Missense 10/21 - 1
17-44770290-CA-GC c.967_968delinsGC p.His323Ala Missense 10/21 - 1
17-44770308-G-C c.985G>C p.Glu329Gln Missense 10/21 - 22
17-44770309-A-C c.986A>C p.Glu329Ala Missense 10/21 - 1
17-44770317-GC-AT c.994_995delinsAT p.Ala332Ile Missense 10/21 - 1
17-44770323-TG-GC c.1000_1001delinsGC p.Cys334Ala Missense 10/21 - 1
17-44770329-CA-GC c.1006_1007delinsGC p.Gln336Ala Missense 10/21 - 1
17-44770336-G-A c.1013G>A p.Gly338Glu Missense 10/21 - 1
17-44770350-AG-GC c.1027_1028delinsGC p.Ser343Ala Missense 10/21 - 1
17-44770351-G-C c.1028G>C p.Ser343Thr Missense 10/21 - 1
17-44770371-G-A c.1048G>A p.Val350Ile Missense 10/21 - 1
17-44770382-G-C c.1059G>C p.Gln353His Missense 10/21 - 1
17-44770382-G-T c.1059G>T p.Gln353His Missense 10/21 - 1
17-44770389-T-C c.1066T>C p.Ser356Pro Missense 10/21 - 2
17-44770389-TC-CT c.1066_1067delinsCT p.Ser356Leu Missense 10/21 - 1
17-44770392-A-C c.1069A>C p.Lys357Gln Missense 10/21 - 2
17-44770393-A-C c.1070A>C p.Lys357Thr Missense 10/21 - 1
17-44770393-A-G c.1070A>G p.Lys357Arg Missense 10/21 - 1
17-44770395-AT-GC c.1072_1073delinsGC p.Ile358Ala Missense 10/21 - 2
17-44770422-AT-TG c.1099_1100delinsTG p.Ile367Cys Missense 10/21 - 2
17-44770423-T-C c.1100T>C p.Ile367Thr Missense 10/21 - 1
17-44771213-G-T c.1112G>T p.Gly371Val Missense 11/21 - 1
17-44771218-A-G c.1117A>G p.Thr373Ala Missense 11/21 - 1
17-44771221-AA-GC c.1120_1121delinsGC p.Asn374Ala Missense 11/21 - 2
17-44771221-A-G c.1120A>G p.Asn374Asp Missense 11/21 - 1
17-44771224-AG-GA c.1123_1124delinsGA p.Arg375Glu Missense 11/21 - 1
17-44771224-AG-GC c.1123_1124delinsGC p.Arg375Ala Missense 11/21 - 1
17-44771227-C-G c.1126C>G p.Pro376Ala Missense 11/21 - 1
17-44771236-A-C c.1135A>C p.Ile379Leu Missense 11/21 - 1
17-44771236-A-T c.1135A>T p.Ile379Leu Missense 11/21 - 1
17-44771240-A-C c.1139A>C p.Asp380Ala Missense 11/21 - 1
17-44771245-G-T c.1144G>T p.Ala382Ser Missense 11/21 - 1
17-44771248-CTT-GAG c.1147_1149delinsGAG p.Leu383Glu Missense 11/21 - 1
17-44771254-AG-GC c.1153_1154delinsGC p.Arg385Ala Missense 11/21 - 4
17-44771260-GGA-AGC c.1159_1161delinsAGC p.Gly387Ser Missense 11/21 - 1
17-44771263-AG-GC c.1162_1163delinsGC p.Arg388Ala Missense 11/21 - 2
17-44771273-T-A c.1172T>A p.Val391Asp Missense 11/21 - 1
17-44771846-C-T c.1192C>T p.Pro398Ser Missense 12/21 - 1
17-44771861-CG-AA c.1207_1208delinsAA p.Arg403Lys Missense 12/21 - 1
17-44771861-CG-GA c.1207_1208delinsGA p.Arg403Glu Missense 12/21 - 1
17-44771861-CG-GC c.1207_1208delinsGC p.Arg403Ala Missense 12/21 - 1
17-44771867-C-T c.1213C>T p.Gln405* Nonsense 12/21 - 1
17-44771873-CT-GC c.1219_1220delinsGC p.Leu407Ala Missense 12/21 - 1
17-44771873-CT-TG c.1219_1220delinsTG p.Leu407Cys Missense 12/21 - 1
17-44771882-CA-TG c.1228_1229inv p.His410Cys Missense 12/21 - 1
17-44771891-AG-GC c.1237_1238delinsGC p.Arg413Ala Missense 12/21 - 1
17-44771919-C-T c.1265C>T p.Ala422Val Missense 12/21 - 1
17-44771927-G-A c.1273G>A p.Asp425Asn Missense 12/21 - 1
17-44771927-GA-AC c.1273_1274delinsAC p.Asp425Thr Missense 12/21 - 1
17-44771927-GA-AG c.1273_1274delinsAG p.Asp425Ser Missense 12/21 - 1
17-44771927-GA-AT c.1273_1274delinsAT p.Asp425Ile Missense 12/21 - 1
17-44771927-GAC-AAG c.1273_1275delinsAAG p.Asp425Lys Missense 12/21 - 1
17-44771927-GAC-ATG c.1273_1275delinsATG p.Asp425Met Missense 12/21 - 1
17-44771927-GAC-CAA c.1273_1275delinsCAA p.Asp425Gln Missense 12/21 - 1
17-44771927-GA-CG c.1273_1274delinsCG p.Asp425Arg Missense 12/21 - 1
17-44771927-GA-CT c.1273_1274delinsCT p.Asp425Leu Missense 12/21 - 1
17-44771927-GAC-TGG c.1273_1275delinsTGG p.Asp425Trp Missense 12/21 - 1
17-44771927-GA-TG c.1273_1274delinsTG p.Asp425Cys Missense 12/21 - 1
17-44771927-GA-TT c.1273_1274delinsTT p.Asp425Phe Missense 12/21 - 1
17-44771927-G-C c.1273G>C p.Asp425His Missense 12/21 - 1
17-44771927-G-T c.1273G>T p.Asp425Tyr Missense 12/21 - 1
17-44771928-A-C c.1274A>C p.Asp425Ala Missense 12/21 - 1
17-44771928-A-G c.1274A>G p.Asp425Gly Missense 12/21 - 1
17-44771928-A-T c.1274A>T p.Asp425Val Missense 12/21 - 1
17-44771929-C-A c.1275C>A p.Asp425Glu Missense 12/21 - 1
17-44771929-C-G c.1275C>G p.Asp425Glu Missense 12/21 - 1
17-44771933-AAA-GAC c.1279_1281delinsGAC p.Lys427Asp Missense 12/21 - 2
17-44771939-CT-GC c.1285_1286delinsGC p.Leu429Ala Missense 12/21 - 1
17-44771942-GCC-TGG c.1288_1290delinsTGG p.Ala430Trp Missense 12/21 - 1
17-44771954-AA-GC c.1300_1301delinsGC p.Lys434Ala Missense 12/21 - 1
17-44771954-A-G c.1300A>G p.Lys434Glu Missense 12/21 - 1
17-44771972-GA-AG c.1318_1319delinsAG p.Glu440Arg Missense 12/21 - 2
17-44771972-G-C c.1318G>C p.Glu440Gln Missense 12/21 - 1
17-44771973-A-C c.1319A>C p.Glu440Ala Missense 12/21 - 2
17-44771975-TT-GC c.1321_1322delinsGC p.Leu441Ala Missense 12/21 - 3
17-44771978-GA-AG c.1324_1325delinsAG p.Glu442Arg Missense 12/21 - 2
17-44771978-G-C c.1324G>C p.Glu442Gln Missense 12/21 - 1
17-44771979-A-C c.1325A>C p.Glu442Ala Missense 12/21 - 2
17-44771985-T-C c.1331T>C p.Leu444Pro Missense 12/21 - 3
17-44771990-CG-GC c.1336_1337delinsGC p.Arg446Ala Missense 12/21 - 1
17-44771996-G-A c.1342G>A p.Ala448Thr Missense 12/21 - 1
17-44772002-TC-GA c.1348_1349inv p.Ser450Asp Missense 12/21 - 2
17-44773783-A-G c.1374+1755A>G - IntronicSNV - 12/20 1
17-44782125-G-A c.1375G>A p.Ala459Thr Missense 13/21 - 1
17-44782128-AG-GC c.1378_1379delinsGC p.Ser460Ala Missense 13/21 - 1
17-44782128-AGT-GAG c.1378_1380delinsGAG p.Ser460Glu Missense 13/21 - 1
17-44782131-ACT-GAG c.1381_1383delinsGAG p.Thr461Glu Missense 13/21 - 1
17-44782131-A-G c.1381A>G p.Thr461Ala Missense 13/21 - 1
17-44782140-GA-AG c.1390_1391delinsAG p.Glu464Arg Missense 13/21 - 1
17-44782146-G-A c.1396G>A p.Asp466Asn Missense 13/21 - 2
17-44782152-G-A c.1402G>A p.Glu468Lys Missense 13/21 - 1
17-44782162-A-C c.1412A>C p.Glu471Ala Missense 13/21 - 1
17-44782164-AGC-GAG c.1414_1416delinsGAG p.Ser472Glu Missense 13/21 - 1
17-44782164-AG-GA c.1414_1415delinsGA p.Ser472Asp Missense 13/21 - 1
17-44782164-AG-GC c.1414_1415delinsGC p.Ser472Ala Missense 13/21 - 1
17-44782179-A-G c.1429A>G p.Arg477Gly Missense 13/21 - 1
17-44782194-G-A c.1444G>A p.Ala482Thr Missense 13/21 - 1
17-44782194-G-T c.1444G>T p.Ala482Ser Missense 13/21 - 1
17-44782197-TC-CT c.1447_1448delinsCT p.Ser483Leu Missense 13/21 - 1
17-44782203-GA-AG c.1453_1454delinsAG p.Glu485Arg Missense 13/21 - 1
17-44787312-C-T c.1471-1017C>T - IntronicSNV - 13/20 1
17-44787313-G-A c.1471-1016G>A - IntronicSNV - 13/20 1
17-44787313-G-C c.1471-1016G>C - IntronicSNV - 13/20 1
17-44788310-G-A c.1471-19G>A - IntronicSNV - 13/20 11
17-44788377-A-G c.1519A>G p.Ile507Val Missense 14/21 - 1
17-44788389-G-C c.1531G>C p.Gly511Arg Missense 14/21 - 1
17-44788422-G-A c.1564G>A p.Glu522Lys Missense 14/21 - 1
17-44788444-A-G c.1586A>G p.Lys529Arg Missense 14/21 - 1
17-44788446-AA-CC c.1588_1589delinsCC p.Asn530Pro Missense 14/21 - 2
17-44788447-AC-TG c.1589_1590delinsTG p.Asn530Met Missense 14/21 - 10
17-44788467-GT-TG c.1609_1610delinsTG p.Val537Cys Missense 14/21 - 1
17-44790203-A-G c.1628-1016A>G - IntronicSNV - 14/20 5
17-44791236-AA-GC c.1645_1646delinsGC p.Lys549Ala Missense 15/21 - 2
17-44791239-AC-TG c.1648_1649delinsTG p.Thr550Cys Missense 15/21 - 1
17-44791254-A-C c.1663A>C p.Lys555Gln Missense 15/21 - 1
17-44791271-C-A c.1680C>A p.Ser560Ser Synonymous 15/21 - 1
17-44791271-C-G c.1680C>G p.Ser560Ser Synonymous 15/21 - 1
17-44791271-C-T c.1680C>T p.Ser560Ser Synonymous 15/21 - 1
17-44791279-C-T c.1688C>T p.Pro563Leu Missense 15/21 - 1
17-44791296-TCT-GAG c.1705_1707delinsGAG p.Ser569Glu Missense 15/21 - 1
17-44791296-T-G c.1705T>G p.Ser569Ala Missense 15/21 - 2
17-44791302-G-A c.1711G>A p.Asp571Asn Missense 15/21 - 2
17-44791305-AA-GC c.1714_1715delinsGC p.Lys572Ala Missense 15/21 - 1
17-44791314-GGC-AAG c.1723_1725delinsAAG p.Gly575Lys Missense 15/21 - 1
17-44791314-GG-CT c.1723_1724delinsCT p.Gly575Leu Missense 15/21 - 1
17-44791314-GG-TT c.1723_1724delinsTT p.Gly575Phe Missense 15/21 - 1
17-44791320-TC-AA c.1729_1730delinsAA p.Ser577Asn Missense 15/21 - 1
17-44791323-G-C c.1732G>C p.Glu578Gln Missense 15/21 - 4
17-44791335-TG-GC c.1744_1745delinsGC p.Cys582Ala Missense 15/21 - 1
17-44792632-C-G c.1761+1280C>G - IntronicSNV - 15/20 1
17-44793283-C-T c.1761+1931C>T - IntronicSNV - 15/20 1
17-44793503-A-G c.1761+2151A>G - IntronicSNV - 15/20 2
17-44795234-A-G c.1761+3882A>G - IntronicSNV - 15/20 7
17-44795469-C-T c.1761+4117C>T - IntronicSNV - 15/20 1
17-44797820-A-G c.1762-6095A>G - IntronicSNV - 15/20 1
17-44797919-C-T c.1762-5996C>T - IntronicSNV - 15/20 1
17-44799216-C-T c.1762-4699C>T - IntronicSNV - 15/20 1
17-44800046-G-A c.1762-3869G>A - IntronicSNV - 15/20 1
17-44801784-G-A c.1762-2131G>A - IntronicSNV - 15/20 2
17-44803924-GA-CG c.1771_1772delinsCG p.Asp591Arg Missense 16/21 - 1
17-44803928-C-T c.1775C>T p.Ala592Val Missense 16/21 - 1
17-44803952-T-A c.1799T>A p.Val600Glu Missense 16/21 - 7
17-44803963-GAC-CAA c.1810_1812delinsCAA p.Asp604Gln Missense 16/21 - 1
17-44803967-T-G c.1814T>G p.Ile605Ser Missense 16/21 - 1
17-44803969-G-A c.1816G>A p.Glu606Lys Missense 16/21 - 1
17-44803972-AG-CA c.1819_1820delinsCA p.Arg607Gln Missense 16/21 - 2
17-44803973-G-A c.1820G>A p.Arg607Lys Missense 16/21 - 1
17-44806238-C-G c.1846C>G p.Pro616Ala Missense 17/21 - 1
17-44806271-CTC-GAG c.1879_1881inv p.Leu627Glu Missense 17/21 - 1
17-44806286-AA-GC c.1894_1895delinsGC p.Lys632Ala Missense 17/21 - 1
17-44808360-G-A c.1908+2060G>A - IntronicSNV - 17/20 2
17-44809001-A-G c.1908+2701A>G - IntronicSNV - 17/20 4
17-44812188-C-T c.1908+5888C>T - IntronicSNV - 17/20 1
17-44814884-T-C c.1908+8584T>C - IntronicSNV - 17/20 1
17-44815743-A-G c.1908+9443A>G - IntronicSNV - 17/20 3
17-44816132-G-T c.1908+9832G>T - IntronicSNV - 17/20 1
17-44819565-C-T c.1909-7574C>T - IntronicSNV - 17/20 2
17-44819595-T-G c.1909-7544T>G - IntronicSNV - 17/20 1
17-44822662-A-G c.1909-4477A>G - IntronicSNV - 17/20 2
17-44824213-T-G c.1909-2926T>G - IntronicSNV - 17/20 1
17-44827142-CG-GC c.1912_1913delinsGC p.Arg638Ala Missense 18/21 - 1
17-44827145-A-C c.1915A>C p.Lys639Gln Missense 18/21 - 1
17-44827151-CT-GC c.1921_1922delinsGC p.Leu641Ala Missense 18/21 - 1
17-44827154-A-G c.1924A>G p.Ile642Val Missense 18/21 - 1
17-44827163-A-G c.1933A>G p.Thr645Ala Missense 18/21 - 2
17-44827166-A-G c.1936A>G p.Thr646Ala Missense 18/21 - 1
17-44827169-AG-GC c.1939_1940delinsGC p.Ser647Ala Missense 18/21 - 1
17-44827180-T-A c.1950T>A p.Asp650Glu Missense 18/21 - 1
17-44827180-T-G c.1950T>G p.Asp650Glu Missense 18/21 - 1
17-44827232-C-A c.2002C>A p.Pro668Thr Missense 18/21 - 1
17-44827233-C-T c.2003C>T p.Pro668Leu Missense 18/21 - 1
17-44827254-A-G c.2024A>G p.Gln675Arg Missense 18/21 - 2
17-44827263-A-C c.2033A>C p.Glu678Ala Missense 18/21 - 2
17-44827268-TT-GC c.2038_2039delinsGC p.Leu680Ala Missense 18/21 - 1
17-44827272-A-C c.2042A>C p.Glu681Ala Missense 18/21 - 1
17-44828872-TT-CC c.2047_2048delinsCC p.Leu683Pro Missense 19/21 - 1
17-44828873-T-C c.2048T>C p.Leu683Ser Missense 19/21 - 1
17-44828931-G-A c.2106G>A p.Lys702Lys Synonymous 19/21 - 30
17-44828939-T-G c.2114T>G p.Ile705Arg Missense 19/21 - 1
17-44828945-T-G c.2120T>G p.Ile707Ser Missense 19/21 - 1
17-44828962-CT-TC c.2137_2138delinsTC p.Leu713Ser Missense 19/21 - 1
17-44832731-G-A c.2209G>A p.Gly737Arg Missense 20/21 - 1
17-44833181-T-A c.2227T>A p.Phe743Ile Missense 21/21 - 1
17-44833217-C-A c.*28C>A - 3-UTRSNV 21/21 - 1