APC APC regulator of WNT signaling pathway

Canonical transcript: NM_000038

1535 unique variant annotations were identified in 1228 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
5-112073664-A-G c.-19+42A>G - intron_variant - 1/15 2
5-112073671-A-G c.-19+49A>G - intron_variant - 1/15 2
5-112073675-T-C c.-19+53T>C - intron_variant - 1/15 2
5-112073675-T-G c.-19+53T>G - intron_variant - 1/15 2
5-112073763-T-C c.-19+141T>C - intron_variant - 1/15 1
5-112073770-G-C c.-19+148G>C - intron_variant - 1/15 1
5-112074269-A-C c.-19+647A>C - intron_variant - 1/15 4
5-112074269-A-G c.-19+647A>G - intron_variant - 1/15 4
5-112078782-A-G c.-19+5160A>G - intron_variant - 1/15 3
5-112081924-A-G c.-19+8302A>G - intron_variant - 1/15 3
5-112086874-C-T c.-18-3696C>T - IntronicSNV - 1/15 1
5-112087327-T-G c.-18-3243T>G - IntronicSNV - 1/15 4
5-112089282-T-C c.-18-1288T>C - IntronicSNV - 1/15 1
5-112089480-T-C c.-18-1090T>C - IntronicSNV - 1/15 2
5-112090615-TT-GC c.28_29delinsGC p.Leu10Ala Missense 2/16 - 4
5-112090616-T-A c.29T>A p.Leu10* Nonsense 2/16 - 1
5-112090616-T-G c.29T>G p.Leu10* Nonsense 2/16 - 1
5-112090619-A-G c.32A>G p.Lys11Arg Missense 2/16 - 9
5-112090621-CAA-TGG c.34_36delinsTGG p.Gln12Trp Missense 2/16 - 1
5-112090622-A-G c.35A>G p.Gln12Arg Missense 2/16 - 1
5-112090623-A-C c.36A>C p.Gln12His Missense 2/16 - 8
5-112090623-A-T c.36A>T p.Gln12His Missense 2/16 - 8
5-112090624-GT-CC c.37_38delinsCC p.Val13Pro Missense 2/16 - 1
5-112090627-GAG-TGT c.40_42delinsTGT p.Glu14Cys Missense 2/16 - 1
5-112090627-G-A c.40G>A p.Glu14Lys Missense 2/16 - 2
5-112090628-A-C c.41A>C p.Glu14Ala Missense 2/16 - 1
5-112090629-G-C c.42G>C p.Glu14Asp Missense 2/16 - 1
5-112090629-G-A c.42G>A p.Glu14Glu Synonymous 2/16 - 1
5-112090629-G-T c.42G>T p.Glu14Asp Missense 2/16 - 1
5-112090631-CA-AC c.44_45delinsAC p.Ala15Asp Missense 2/16 - 2
5-112090631-C-G c.44C>G p.Ala15Gly Missense 2/16 - 1
5-112090631-C-A c.44C>A p.Ala15Glu Missense 2/16 - 1
5-112090632-A-G c.45A>G p.Ala15Ala Synonymous 2/16 - 1
5-112090632-A-T c.45A>T p.Ala15Ala Synonymous 2/16 - 1
5-112090632-A-C c.45A>C p.Ala15Ala Synonymous 2/16 - 1
5-112090633-CT-GA c.46_47delinsGA p.Leu16Glu Missense 2/16 - 1
5-112090636-A-G c.49A>G p.Lys17Glu Missense 2/16 - 1
5-112090636-A-C c.49A>C p.Lys17Gln Missense 2/16 - 1
5-112090640-TG-GC c.53_54delinsGC p.Met18Ser Missense 2/16 - 3
5-112090642-GGAG-G c.55_57del p.Glu19del InFrameDeletion 2/16 - 3
5-112090643-A-C c.56A>C p.Glu19Ala Missense 2/16 - 1
5-112090644-G-C c.57G>C p.Glu19Asp Missense 2/16 - 1
5-112090644-G-T c.57G>T p.Glu19Asp Missense 2/16 - 1
5-112090645-AAC-TAA c.58_60delinsTAA p.Asn20* Nonsense 2/16 - 1
5-112090645-AAC-CAA c.58_60delinsCAA p.Asn20Gln Missense 2/16 - 1
5-112090647-C-G c.60C>G p.Asn20Lys Missense 2/16 - 1
5-112090647-C-A c.60C>A p.Asn20Lys Missense 2/16 - 1
5-112090648-TCA-GAC c.61_63delinsGAC p.Ser21Asp Missense 2/16 - 1
5-112090648-TCA-AAC c.61_63delinsAAC p.Ser21Asn Missense 2/16 - 1
5-112090648-TC-GA c.61_62inv p.Ser21Glu Missense 2/16 - 1
5-112090648-T-G c.61T>G p.Ser21Ala Missense 2/16 - 15
5-112090649-CA-GT c.62_63delinsGT p.Ser21Cys Missense 2/16 - 2
5-112090651-AA-GC c.64_65delinsGC p.Asn22Ala Missense 2/16 - 6
5-112090652-A-C c.65A>C p.Asn22Thr Missense 2/16 - 1
5-112090654-CT-GC c.67_68delinsGC p.Leu23Ala Missense 2/16 - 4
5-112090657-CGA-TGT c.70_72delinsTGT p.Arg24Cys Missense 2/16 - 3
5-112090657-CG-GC c.70_71delinsGC p.Arg24Ala Missense 2/16 - 1
5-112090657-C-T c.70C>T p.Arg24* Nonsense 2/16 - 2
5-112090663-G-A c.76G>A p.Glu26Lys Missense 2/16 - 1
5-112090664-A-C c.77A>C p.Glu26Ala Missense 2/16 - 1
5-112090665-G-T c.78G>T p.Glu26Asp Missense 2/16 - 1
5-112090665-G-C c.78G>C p.Glu26Asp Missense 2/16 - 1
5-112090666-CT-GC c.79_80delinsGC p.Leu27Ala Missense 2/16 - 3
5-112090670-A-C c.83A>C p.Glu28Ala Missense 2/16 - 2
5-112090670-A-G c.83A>G p.Glu28Gly Missense 2/16 - 1
5-112090673-A-C c.86A>C p.Asp29Ala Missense 2/16 - 1
5-112090674-T-C c.87T>C p.Asp29Asp Synonymous 2/16 - 1
5-112090675-AA-GC c.88_89delinsGC p.Asn30Ala Missense 2/16 - 3
5-112090676-A-G c.89A>G p.Asn30Ser Missense 2/16 - 1
5-112090678-T-A c.91T>A p.Ser31Thr Missense 2/16 - 1
5-112090681-AA-GC c.94_95delinsGC p.Asn32Ala Missense 2/16 - 1
5-112090681-A-C c.94A>C p.Asn32His Missense 2/16 - 3
5-112090682-A-G c.95A>G p.Asn32Ser Missense 2/16 - 3
5-112090685-A-C c.98A>C p.His33Pro Missense 2/16 - 1
5-112090685-A-T c.98A>T p.His33Leu Missense 2/16 - 7
5-112090687-CT-TA c.100_101delinsTA p.Leu34Tyr Missense 2/16 - 1
5-112090690-A-G c.103A>G p.Thr35Ala Missense 2/16 - 2
5-112090690-A-T c.103A>T p.Thr35Ser Missense 2/16 - 1
5-112090693-A-G c.106A>G p.Lys36Glu Missense 2/16 - 1
5-112090693-AA-GC c.106_107delinsGC p.Lys36Ala Missense 2/16 - 1
5-112090699-GA-AG c.112_113delinsAG p.Glu38Arg Missense 2/16 - 1
5-112090699-G-A c.112G>A p.Glu38Lys Missense 2/16 - 2
5-112090702-A-C c.115A>C p.Thr39Pro Missense 2/16 - 1
5-112090702-A-G c.115A>G p.Thr39Ala Missense 2/16 - 3
5-112090708-GCA-TGT c.121_123delinsTGT p.Ala41Cys Missense 2/16 - 1
5-112090709-C-G c.122C>G p.Ala41Gly Missense 2/16 - 1
5-112090709-CA-AC c.122_123delinsAC p.Ala41Asp Missense 2/16 - 1
5-112090711-T-C c.124T>C p.Ser42Pro Missense 2/16 - 3
5-112090712-C-G c.125C>G p.Ser42Cys Missense 2/16 - 1
5-112090720-A-G c.133A>G p.Lys45Glu Missense 2/16 - 1
5-112097351-A-G c.136-4672A>G - IntronicSNV - 2/15 1
5-112101793-C-A c.136-230C>A - IntronicSNV - 2/15 1
5-112101970-T-C c.136-53T>C - IntronicSNV - 2/15 1
5-112102023-G-A c.136G>A p.Glu46Lys Missense 3/16 - 3
5-112102027-T-C c.140T>C p.Val47Ala Missense 3/16 - 2
5-112102030-T-G c.143T>G p.Leu48Arg Missense 3/16 - 1
5-112102032-AA-CC c.145_146delinsCC p.Lys49Pro Missense 3/16 - 1
5-112102033-A-G c.146A>G p.Lys49Arg Missense 3/16 - 4
5-112102034-A-T c.147A>T p.Lys49Asn Missense 3/16 - 1
5-112102034-A-C c.147A>C p.Lys49Asn Missense 3/16 - 1
5-112102034-AACAA-A c.147_150del p.Lys49Asnfs*20 Frameshift 3/16 - 1
5-112102035-C-G c.148C>G p.Gln50Glu Missense 3/16 - 1
5-112102035-CAA-TTT c.148_150delinsTTT p.Gln50Phe Missense 3/16 - 1
5-112102036-A-G c.149A>G p.Gln50Arg Missense 3/16 - 1
5-112102038-CTA-TGT c.151_153delinsTGT p.Leu51Cys Missense 3/16 - 1
5-112102043-A-G c.156A>G p.Gln52Gln Synonymous 3/16 - 1
5-112102045-G-T c.158G>T p.Gly53Val Missense 3/16 - 1
5-112102047-AG-GC c.160_161delinsGC p.Ser54Ala Missense 3/16 - 3
5-112102047-AG-GA c.160_161delinsGA p.Ser54Asp Missense 3/16 - 2
5-112102050-AT-TG c.163_164delinsTG p.Ile55Cys Missense 3/16 - 1
5-112102062-GC-TT c.175_176delinsTT p.Ala59Phe Missense 3/16 - 2
5-112102063-C-A c.176C>A p.Ala59Asp Missense 3/16 - 1
5-112102063-CT-AG c.176_177inv p.Ala59Glu Missense 3/16 - 1
5-112102063-C-G c.176C>G p.Ala59Gly Missense 3/16 - 1
5-112102064-T-C c.177T>C p.Ala59Ala Synonymous 3/16 - 1
5-112102064-T-A c.177T>A p.Ala59Ala Synonymous 3/16 - 1
5-112102064-T-G c.177T>G p.Ala59Ala Synonymous 3/16 - 1
5-112102065-AT-GC c.178_179delinsGC p.Met60Ala Missense 3/16 - 1
5-112102067-G-T c.180G>T p.Met60Ile Missense 3/16 - 1
5-112102067-G-C c.180G>C p.Met60Ile Missense 3/16 - 1
5-112102067-G-A c.180G>A p.Met60Ile Missense 3/16 - 1
5-112102068-GC-TG c.181_182delinsTG p.Ala61Cys Missense 3/16 - 1
5-112102068-GC-TT c.181_182delinsTT p.Ala61Phe Missense 3/16 - 2
5-112102069-C-A c.182C>A p.Ala61Asp Missense 3/16 - 2
5-112102069-C-G c.182C>G p.Ala61Gly Missense 3/16 - 3
5-112102069-GCTTCTTCTGGACAGATTGATTT-G c.182_203del p.Ala61Aspfs*2 Frameshift 3/16 - 1
5-112102071-TC-GA c.184_185inv p.Ser62Asp Missense 3/16 - 1
5-112102071-T-G c.184T>G p.Ser62Ala Missense 3/16 - 4
5-112102074-TT-T c.187del p.Ser63Leufs*7 Frameshift 3/16 - 1
5-112102074-TC-CG c.187_188delinsCG p.Ser63Arg Missense 3/16 - 2
5-112102074-TCT-AAG c.187_189delinsAAG p.Ser63Lys Missense 3/16 - 1
5-112102074-T-G c.187T>G p.Ser63Ala Missense 3/16 - 2
5-112102074-T-C c.187T>C p.Ser63Pro Missense 3/16 - 1
5-112102075-C-G c.188C>G p.Ser63Cys Missense 3/16 - 1
5-112102077-GG-CT c.190_191delinsCT p.Gly64Leu Missense 3/16 - 1
5-112102078-G-T c.191G>T p.Gly64Val Missense 3/16 - 1
5-112102080-C-G c.193C>G p.Gln65Glu Missense 3/16 - 2
5-112102080-C-A c.193C>A p.Gln65Lys Missense 3/16 - 1
5-112102080-CA-GC c.193_194delinsGC p.Gln65Ala Missense 3/16 - 1
5-112102086-GA-TT c.199_200delinsTT p.Asp67Phe Missense 3/16 - 1
5-112102086-GA-CG c.199_200delinsCG p.Asp67Arg Missense 3/16 - 1
5-112102087-A-C c.200A>C p.Asp67Ala Missense 3/16 - 1
5-112102092-TT-GC c.205_206delinsGC p.Leu69Ala Missense 3/16 - 1
5-112102096-A-G c.209A>G p.Glu70Gly Missense 3/16 - 1
5-112102096-A-C c.209A>C p.Glu70Ala Missense 3/16 - 1
5-112102098-C-T c.211C>T p.Arg71Cys Missense 3/16 - 1
5-112102098-C-G c.211C>G p.Arg71Gly Missense 3/16 - 1
5-112102098-CG-TA c.211_212delinsTA p.Arg71Tyr Missense 3/16 - 1
5-112102098-CGT-GAG c.211_213delinsGAG p.Arg71Glu Missense 3/16 - 1
5-112102101-CT-GG c.214_215delinsGG p.Leu72Gly Missense 3/16 - 1
5-112102102-TT-AA c.215_216inv p.Leu72Gln Missense 3/16 - 1
5-112102107-G-T c.220G>T p.Glu74* Nonsense 3/16 - 1
5-112102111-G-A c.220+4G>A - IntronicSNV - 3/15 1
5-112102142-T-A c.220+35T>A - IntronicSNV - 3/15 1
5-112102147-T-C c.220+40T>C - IntronicSNV - 3/15 1
5-112102884-A-G c.221-2A>G - IntronicSNV - 3/15 2
5-112102885-G-A c.221-1G>A - IntronicSNV - 3/15 1
5-112102886-A-G c.221A>G p.Glu74Gly Missense 4/16 - 1
5-112102888-C-T c.223C>T p.Leu75Phe Missense 4/16 - 1
5-112102895-T-G c.230T>G p.Leu77* Nonsense 4/16 - 1
5-112102897-G-A c.232G>A p.Asp78Asn Missense 4/16 - 1
5-112102898-GATAG-G c.233_236del p.Asp78Alafs*7 Frameshift 4/16 - 1
5-112102898-A-C c.233A>C p.Asp78Ala Missense 4/16 - 1
5-112102899-T-C c.234T>C p.Asp78Asp Synonymous 4/16 - 1
5-112102906-AA-GC c.241_242delinsGC p.Asn81Ala Missense 4/16 - 1
5-112102909-TT-GC c.244_245delinsGC p.Phe82Ala Missense 4/16 - 1
5-112102921-A-T c.256A>T p.Lys86* Nonsense 4/16 - 1
5-112102921-AA-GC c.256_257delinsGC p.Lys86Ala Missense 4/16 - 1
5-112102927-CG-AA c.262_263delinsAA p.Arg88Lys Missense 4/16 - 2
5-112102931-C-G c.266C>G p.Ser89* Nonsense 4/16 - 2
5-112102933-AA-GC c.268_269delinsGC p.Lys90Ala Missense 4/16 - 1
5-112102934-A-G c.269A>G p.Lys90Arg Missense 4/16 - 1
5-112102935-A-T c.270A>T p.Lys90Asn Missense 4/16 - 1
5-112102935-A-C c.270A>C p.Lys90Asn Missense 4/16 - 1
5-112102939-T-C c.274T>C p.Ser92Pro Missense 4/16 - 1
5-112102939-TCC-GAG c.274_276delinsGAG p.Ser92Glu Missense 4/16 - 1
5-112102940-C-G c.275C>G p.Ser92Cys Missense 4/16 - 1
5-112102945-CG-GC c.280_281delinsGC p.Arg94Ala Missense 4/16 - 1
5-112102946-G-A c.281G>A p.Arg94His Missense 4/16 - 1
5-112102948-TC-AA c.283_284delinsAA p.Ser95Asn Missense 4/16 - 1
5-112102951-TAT-AAG c.286_288delinsAAG p.Tyr96Lys Missense 4/16 - 1
5-112102951-TA-GC c.286_287delinsGC p.Tyr96Ala Missense 4/16 - 1
5-112102953-T-TCC c.288_289insCC p.Gly97Profs*29 Frameshift 4/16 - 1
5-112102953-T-A c.288T>A p.Tyr96* Nonsense 4/16 - 1
5-112102954-G-A c.289G>A p.Gly97Arg Missense 4/16 - 2
5-112102954-G-T c.289G>T p.Gly97* Nonsense 4/16 - 1
5-112102955-G-C c.290G>C p.Gly97Ala Missense 4/16 - 1
5-112102960-C-T c.295C>T p.Arg99Trp Missense 4/16 - 4
5-112102960-C-A c.295C>A p.Arg99Arg Synonymous 4/16 - 1
5-112102967-GA-AC c.302_303delinsAC p.Gly101Asp Missense 4/16 - 1
5-112102969-T-C c.304T>C p.Ser102Pro Missense 4/16 - 1
5-112102969-T-A c.304T>A p.Ser102Thr Missense 4/16 - 1
5-112102969-T-G c.304T>G p.Ser102Ala Missense 4/16 - 4
5-112102973-T-G c.308T>G p.Val103Gly Missense 4/16 - 1
5-112102975-T-G c.310T>G p.Ser104Ala Missense 4/16 - 1
5-112102975-TC-GA c.310_311inv p.Ser104Glu Missense 4/16 - 1
5-112102976-C-G c.311C>G p.Ser104* Nonsense 4/16 - 1
5-112102978-A-G c.313A>G p.Ser105Gly Missense 4/16 - 1
5-112102981-C-G c.316C>G p.Arg106Gly Missense 4/16 - 1
5-112102981-C-A c.316C>A p.Arg106Ser Missense 4/16 - 1
5-112102982-G-A c.317G>A p.Arg106His Missense 4/16 - 1
5-112102990-G-T c.325G>T p.Glu109* Nonsense 4/16 - 1
5-112102993-TG-AC c.328_329delinsAC p.Cys110Thr Missense 4/16 - 1
5-112102993-TG-GC c.328_329delinsGC p.Cys110Ala Missense 4/16 - 1
5-112102996-AG-GC c.331_332delinsGC p.Ser111Ala Missense 4/16 - 1
5-112102996-A-G c.331A>G p.Ser111Gly Missense 4/16 - 1
5-112102999-C-G c.334C>G p.Pro112Ala Missense 4/16 - 1
5-112103003-T-C c.338T>C p.Val113Ala Missense 4/16 - 1
5-112103006-CC-C c.341del p.Pro114Leufs*11 Frameshift 4/16 - 1
5-112103010-G-T c.345G>T p.Met115Ile Missense 4/16 - 1
5-112103012-G-T c.347G>T p.Gly116Val Missense 4/16 - 1
5-112103023-AG-GC c.358_359delinsGC p.Arg120Ala Missense 4/16 - 2
5-112103024-G-A c.359G>A p.Arg120Lys Missense 4/16 - 1
5-112103031-GG-G c.366del p.Phe123Leufs*2 Frameshift 4/16 - 1
5-112103032-TT-GC c.367_368delinsGC p.Phe123Ala Missense 4/16 - 1
5-112103032-T-A c.367T>A p.Phe123Ile Missense 4/16 - 1
5-112103040-T-G c.375T>G p.Asn125Lys Missense 4/16 - 1
5-112103040-T-A c.375T>A p.Asn125Lys Missense 4/16 - 1
5-112103041-G-T c.376G>T p.Gly126* Nonsense 4/16 - 2
5-112103041-GGA-AGC c.376_378delinsAGC p.Gly126Ser Missense 4/16 - 2
5-112103044-AGC-TGA c.379_381delinsTGA p.Ser127* Nonsense 4/16 - 1
5-112103044-AG-GC c.379_380delinsGC p.Ser127Ala Missense 4/16 - 11
5-112103044-AG-GA c.379_380delinsGA p.Ser127Asp Missense 4/16 - 3
5-112103047-AGA-TGT c.382_384delinsTGT p.Arg128Cys Missense 4/16 - 1
5-112103050-G-C c.385G>C p.Glu129Gln Missense 4/16 - 1
5-112103050-G-A c.385G>A p.Glu129Lys Missense 4/16 - 1
5-112103052-A-AT c.387_388insT p.Ser130* Nonsense 4/16 - 1
5-112103053-A-G c.388A>G p.Ser130Gly Missense 4/16 - 2
5-112103053-AG-GC c.388_389delinsGC p.Ser130Ala Missense 4/16 - 3
5-112103053-A-T c.388A>T p.Ser130Cys Missense 4/16 - 2
5-112103056-A-G c.391A>G p.Thr131Ala Missense 4/16 - 1
5-112103062-T-G c.397T>G p.Tyr133Asp Missense 4/16 - 1
5-112103063-A-C c.398A>C p.Tyr133Ser Missense 4/16 - 1
5-112103074-CTT-GAG c.409_411delinsGAG p.Leu137Glu Missense 4/16 - 1
5-112103077-G-C c.412G>C p.Glu138Gln Missense 4/16 - 1
5-112103079-G-C c.414G>C p.Glu138Asp Missense 4/16 - 1
5-112103079-G-T c.414G>T p.Glu138Asp Missense 4/16 - 1
5-112103080-A-G c.415A>G p.Lys139Glu Missense 4/16 - 1
5-112103081-AAAGA-A c.416_419del p.Lys139Argfs*30 Frameshift 4/16 - 1
5-112103083-GAG-ATC c.418_420delinsATC p.Glu140Ile Missense 4/16 - 1
5-112103085-G-C c.420G>C p.Glu140Asp Missense 4/16 - 1
5-112103086-AG-GC c.421_422delinsGC p.Arg141Ala Missense 4/16 - 1
5-112107058-G-A c.422+3971G>A - IntronicSNV - 4/15 1
5-112107058-G-T c.422+3971G>T - IntronicSNV - 4/15 1
5-112109668-TGATGGTAGCATACATTGGTATAACATCTCACAAGGGCAGTAAGTTAAAAATTTATATAT-T c.423-1658_423-1600del - Unclassified - 4/15 1
5-112109779-G-C c.423-1547G>C - IntronicSNV - 4/15 2
5-112111309-T-TT c.423-17dup - IntronicInsertion - 4/15 1
5-112111314-A-G c.423-12A>G - IntronicSNV - 4/15 1
5-112111318-A-G c.423-8A>G - IntronicSNV - 4/15 1
5-112111321-A-G c.423-5A>G - IntronicSNV - 4/15 1
5-112111322-AA-A c.423-4del - IntronicDeletion - 4/15 2
5-112111323-T-A c.423-3T>A - IntronicSNV - 4/15 2
5-112111324-A-G c.423-2A>G - IntronicSNV - 4/15 2
5-112111326-G-T c.423G>T p.Arg141Ser Missense 5/16 - 2
5-112111326-GGTCATTGCTTCTTGCTGATCTTGACAAAGAAGAAAAGGAAAAAGACTGGTATTACGCTC-G c.423_481del p.Ser142Thrfs*6 Multi:SpliceAcceptorDeletion,CdsStopDeletion 5/16 - 3
5-112111329-CAT-C c.426_427del p.Leu143Alafs*4 Frameshift 5/16 - 2
5-112111337-TT-AA c.434_435inv p.Leu145Gln Missense 5/16 - 1
5-112111339-G-C c.436G>C p.Ala146Pro Missense 5/16 - 1
5-112111339-G-A c.436G>A p.Ala146Thr Missense 5/16 - 4
5-112111339-GC-TT c.436_437delinsTT p.Ala146Phe Missense 5/16 - 1
5-112111339-GCT-TAA c.436_438delinsTAA p.Ala146* Nonsense 5/16 - 1
5-112111340-C-T c.437C>T p.Ala146Val Missense 5/16 - 2
5-112111345-CTT-GAG c.442_444delinsGAG p.Leu148Glu Missense 5/16 - 1
5-112111349-A-C c.446A>C p.Asp149Ala Missense 5/16 - 1
5-112111349-A-T c.446A>T p.Asp149Val Missense 5/16 - 1
5-112111350-C-CC c.447dup p.Lys150Glnfs*18 Frameshift 5/16 - 2
5-112111351-A-T c.448A>T p.Lys150* Nonsense 5/16 - 1
5-112111351-CAAA-C c.448_450del p.Lys150del InFrameDeletion 5/16 - 2
5-112111355-A-C c.452A>C p.Glu151Ala Missense 5/16 - 1
5-112111358-A-AGAAA c.455_456insGAAA p.Glu154Lysfs*15 Frameshift 5/16 - 1
5-112111361-A-G c.458A>G p.Lys153Arg Missense 5/16 - 1
5-112111363-G-A c.460G>A p.Glu154Lys Missense 5/16 - 1
5-112111363-GAA-CAT c.460_462delinsCAT p.Glu154His Missense 5/16 - 1
5-112111366-AAA-GAC c.463_465delinsGAC p.Lys155Asp Missense 5/16 - 1
5-112111366-A-G c.463A>G p.Lys155Glu Missense 5/16 - 9
5-112111366-AA-GC c.463_464delinsGC p.Lys155Ala Missense 5/16 - 1
5-112111367-AA-TG c.464_465delinsTG p.Lys155Met Missense 5/16 - 2
5-112111368-A-G c.465A>G p.Lys155Lys Synonymous 5/16 - 2
5-112111370-A-C c.467A>C p.Asp156Ala Missense 5/16 - 1
5-112111375-TA-GC c.472_473delinsGC p.Tyr158Ala Missense 5/16 - 1
5-112111376-A-T c.473A>T p.Tyr158Phe Missense 5/16 - 1
5-112111377-T-G c.474T>G p.Tyr158* Nonsense 5/16 - 1
5-112111383-CTCAA-C c.480_483del p.Gln161Phefs*8 Frameshift 5/16 - 1
5-112111390-C-T c.487C>T p.Gln163* Nonsense 5/16 - 3
5-112111393-AA-CC c.490_491delinsCC p.Asn164Pro Missense 5/16 - 1
5-112111399-A-G c.496A>G p.Thr166Ala Missense 5/16 - 1
5-112111399-A-AA c.496dup p.Thr166Asnfs*2 Frameshift 5/16 - 1
5-112111400-C-CC c.497dup p.Lys167* Nonsense 5/16 - 1
5-112111403-AA-TG c.500_501delinsTG p.Lys167Met Missense 5/16 - 2
5-112111405-A-T c.502A>T p.Arg168* Nonsense 5/16 - 2
5-112111408-AATAGA-A c.505_509del p.Ile169* Frameshift 5/16 - 1
5-112111412-A-C c.509A>C p.Asp170Ala Missense 5/16 - 2
5-112111412-GA-G c.509del p.Asp170Valfs*5 Frameshift 5/16 - 1
5-112111414-A-AA c.511dup p.Ser171Lysfs*6 Frameshift 5/16 - 2
5-112111416-GTCTT-G c.513_516del p.Pro173* Frameshift 5/16 - 1
5-112111420-C-A c.517C>A p.Pro173Thr Missense 5/16 - 1
5-112111420-TCCTT-T c.517_520del p.Pro173* Frameshift 5/16 - 1
5-112111423-TT-GC c.520_521delinsGC p.Leu174Ala Missense 5/16 - 1
5-112111426-A-T c.523A>T p.Thr175Ser Missense 5/16 - 1
5-112111427-C-G c.524C>G p.Thr175Ser Missense 5/16 - 1
5-112111430-A-C c.527A>C p.Glu176Ala Missense 5/16 - 1
5-112111431-A-G c.528A>G p.Glu176Glu Synonymous 5/16 - 1
5-112111432-AA-GG c.529_530delinsGG p.Asn177Gly Missense 5/16 - 1
5-112111435-G-A c.531+1G>A - IntronicSNV - 5/15 1
5-112111435-G-T c.531+1G>T - IntronicSNV - 5/15 1
5-112111436-T-A c.531+2T>A - IntronicSNV - 5/15 1
5-112111439-G-C c.531+5G>C - IntronicSNV - 5/15 1
5-112113527-A-T c.531+2093A>T - IntronicSNV - 5/15 1
5-112115487-GG-G c.532-1000del - IntronicDeletion - 5/15 1
5-112115546-G-A c.532-941G>A - IntronicSNV - 5/15 1
5-112115642-A-G c.532-845A>G - IntronicSNV - 5/15 1
5-112116479-G-A c.532-8G>A - IntronicSNV - 5/15 1
5-112116485-A-T c.532-2A>T - IntronicSNV - 5/15 2
5-112116491-CC-AA c.536_537delinsAA p.Ser179* Nonsense 6/16 - 1
5-112116493-TT-GC c.538_539delinsGC p.Leu180Ala Missense 6/16 - 1
5-112116495-A-AA c.540dup p.Gln181Thrfs*12 Frameshift 6/16 - 1
5-112116496-CA-GC c.541_542delinsGC p.Gln181Ala Missense 6/16 - 1
5-112116499-A-AA c.544dup p.Thr182Asnfs*11 Frameshift 6/16 - 1
5-112116499-A-G c.544A>G p.Thr182Ala Missense 6/16 - 1
5-112116505-A-G c.550A>G p.Met184Val Missense 6/16 - 6
5-112116508-AC-GA c.553_554delinsGA p.Thr185Asp Missense 6/16 - 1
5-112116511-CA-C c.556del p.Arg186Glufs*19 Frameshift 6/16 - 2
5-112116514-AG-CA c.559_560delinsCA p.Arg187Gln Missense 6/16 - 3
5-112116514-AG-GC c.559_560delinsGC p.Arg187Ala Missense 6/16 - 2
5-112116515-G-A c.560G>A p.Arg187Lys Missense 6/16 - 1
5-112116516-G-C c.561G>C p.Arg187Ser Missense 6/16 - 1
5-112116516-G-T c.561G>T p.Arg187Ser Missense 6/16 - 1
5-112116520-TT-AA c.565_566inv p.Leu189Lys Missense 6/16 - 1
5-112116523-G-A c.568G>A p.Glu190Lys Missense 6/16 - 2
5-112116523-G-T c.568G>T p.Glu190* Nonsense 6/16 - 1
5-112116524-A-C c.569A>C p.Glu190Ala Missense 6/16 - 1
5-112116526-TA-AT c.571_572delinsAT p.Tyr191Ile Missense 6/16 - 1
5-112116528-T-C c.573T>C p.Tyr191Tyr Synonymous 6/16 - 2
5-112116532-GCA-TGT c.577_579delinsTGT p.Ala193Cys Missense 6/16 - 1
5-112116541-A-G c.586A>G p.Ile196Val Missense 6/16 - 1
5-112116544-CA-C c.589del p.Arg197Glufs*8 Frameshift 6/16 - 1
5-112116544-AG-GA c.589_590delinsGA p.Arg197Glu Missense 6/16 - 1
5-112116544-AG-GC c.589_590delinsGC p.Arg197Ala Missense 6/16 - 1
5-112116553-AT-GC c.598_599delinsGC p.Met200Ala Missense 6/16 - 1
5-112116553-AT-GG c.598_599delinsGG p.Met200Gly Missense 6/16 - 1
5-112116556-G-T c.601G>T p.Glu201* Nonsense 6/16 - 1
5-112116560-A-C c.605A>C p.Glu202Ala Missense 6/16 - 1
5-112116562-C-T c.607C>T p.Gln203* Nonsense 6/16 - 1
5-112116571-A-G c.616A>G p.Thr206Ala Missense 6/16 - 2
5-112116571-AC-GA c.616_617delinsGA p.Thr206Asp Missense 6/16 - 3
5-112116576-C-A c.621C>A p.Cys207* Nonsense 6/16 - 1
5-112116577-C-T c.622C>T p.Gln208* Nonsense 6/16 - 1
5-112116581-A-C c.626A>C p.Asp209Ala Missense 6/16 - 1
5-112116583-ATG-TTT c.628_630delinsTTT p.Met210Phe Missense 6/16 - 3
5-112116587-A-C c.632A>C p.Glu211Ala Missense 6/16 - 1
5-112116589-AA-GC c.634_635delinsGC p.Lys212Ala Missense 6/16 - 1
5-112116591-A-AA c.636dup p.Arg213Thrfs*39 Frameshift 6/16 - 1
5-112116592-C-T c.637C>T p.Arg213* Nonsense 6/16 - 16
5-112116592-C-G c.637C>G p.Arg213Gly Missense 6/16 - 1
5-112116595-G-T c.640G>T p.Ala214Ser Missense 6/16 - 1
5-112116601-G-T c.645+1G>T - IntronicSNV - 6/15 1
5-112116632-C-T c.645+32C>T - IntronicSNV - 6/15 2
5-112116646-GG-G c.645+46del - IntronicDeletion - 6/15 1
5-112116729-A-C c.645+129A>C - IntronicSNV - 6/15 2
5-112116773-A-T c.645+173A>T - IntronicSNV - 6/15 1
5-112116773-A-G c.645+173A>G - IntronicSNV - 6/15 1
5-112118338-G-A c.645+1738G>A - IntronicSNV - 6/15 2
5-112118956-C-T c.645+2356C>T - IntronicSNV - 6/15 3
5-112122532-G-C c.646-5611G>C - IntronicSNV - 6/15 2
5-112122532-G-A c.646-5611G>A - IntronicSNV - 6/15 2
5-112122532-G-T c.646-5611G>T - IntronicSNV - 6/15 2
5-112124369-T-G c.646-3774T>G - IntronicSNV - 6/15 9
5-112124369-T-C c.646-3774T>C - IntronicSNV - 6/15 9
5-112126337-T-G c.646-1806T>G - IntronicSNV - 6/15 1
5-112128142-G-T c.646-1G>T - IntronicSNV - 6/15 1
5-112128143-CGA-TGG c.646_648delinsTGG p.Arg216Trp Missense 7/16 - 1
5-112128143-C-T c.646C>T p.Arg216* Nonsense 7/16 - 22
5-112128143-C-G c.646C>G p.Arg216Gly Missense 7/16 - 2
5-112128150-T-C c.653T>C p.Ile218Thr Missense 7/16 - 1
5-112128165-A-G c.668A>G p.Gln223Arg Missense 7/16 - 1
5-112128167-A-G c.670A>G p.Ile224Val Missense 7/16 - 1
5-112128167-AT-GC c.670_671delinsGC p.Ile224Ala Missense 7/16 - 1
5-112128168-T-C c.671T>C p.Ile224Thr Missense 7/16 - 1
5-112128171-A-C c.674A>C p.Glu225Ala Missense 7/16 - 1
5-112128176-GAC-AAG c.679_681delinsAAG p.Asp227Lys Missense 7/16 - 18
5-112128176-G-A c.679G>A p.Asp227Asn Missense 7/16 - 1
5-112128176-GG-G c.679del p.Asp227Thrfs*66 Frameshift 7/16 - 1
5-112128177-A-G c.680A>G p.Asp227Gly Missense 7/16 - 1
5-112128177-A-C c.680A>C p.Asp227Ala Missense 7/16 - 2
5-112128185-CG-GC c.688_689delinsGC p.Arg230Ala Missense 7/16 - 1
5-112128185-C-T c.688C>T p.Arg230Cys Missense 7/16 - 2
5-112128191-C-T c.694C>T p.Arg232* Nonsense 7/16 - 21
5-112128192-GA-AT c.695_696delinsAT p.Arg232His Missense 7/16 - 1
5-112128197-CT-GC c.700_701delinsGC p.Leu234Ala Missense 7/16 - 7
5-112128200-TT-GC c.703_704delinsGC p.Leu235Ala Missense 7/16 - 4
5-112128202-A-T c.705A>T p.Leu235Phe Missense 7/16 - 2
5-112128202-A-C c.705A>C p.Leu235Phe Missense 7/16 - 2
5-112128203-C-T c.706C>T p.Gln236* Nonsense 7/16 - 1
5-112128204-CA-C c.707del p.Gln236Argfs*57 Frameshift 7/16 - 1
5-112128206-T-G c.709T>G p.Ser237Ala Missense 7/16 - 1
5-112128215-A-T c.718A>T p.Thr240Ser Missense 7/16 - 1
5-112128216-C-G c.719C>G p.Thr240Arg Missense 7/16 - 1
5-112128216-CA-TG c.719_720inv p.Thr240Met Missense 7/16 - 1
5-112128218-G-A c.721G>A p.Glu241Lys Missense 7/16 - 1
5-112130086-C-A c.729+1860C>A - IntronicSNV - 7/15 1
5-112131288-A-G c.729+3062A>G - IntronicSNV - 7/15 1
5-112131787-A-G c.729+3561A>G - IntronicSNV - 7/15 1
5-112133138-A-G c.730-3838A>G - IntronicSNV - 7/15 1
5-112135090-G-C c.730-1886G>C - IntronicSNV - 7/15 1
5-112135090-G-A c.730-1886G>A - IntronicSNV - 7/15 1
5-112136961-A-G c.730-15A>G - IntronicSNV - 7/15 1
5-112136976-GAG-G c.730_731del p.Arg244Valfs*7 SpliceAcceptorDeletion 8/16 - 1
5-112136982-T-G c.736T>G p.Ser246Ala Missense 8/16 - 2
5-112136988-AAC-CAA c.742_744delinsCAA p.Asn248Gln Missense 8/16 - 2
5-112136988-AA-GC c.742_743delinsGC p.Asn248Ala Missense 8/16 - 1
5-112136989-A-G c.743A>G p.Asn248Ser Missense 8/16 - 1
5-112136998-A-C c.752A>C p.Glu251Ala Missense 8/16 - 1
5-112137000-A-G c.754A>G p.Thr252Ala Missense 8/16 - 2
5-112137003-G-A c.757G>A p.Gly253Ser Missense 8/16 - 2
5-112137004-G-A c.758G>A p.Gly253Asp Missense 8/16 - 8
5-112137006-T-A c.760T>A p.Ser254Thr Missense 8/16 - 2
5-112137010-A-AA c.764dup p.His255Glnfs*2 Frameshift 8/16 - 1
5-112137021-C-T c.775C>T p.Arg259Trp Missense 8/16 - 1
5-112137022-G-A c.776G>A p.Arg259Gln Missense 8/16 - 1
5-112137024-C-T c.778C>T p.Gln260* Nonsense 8/16 - 2
5-112137025-A-T c.779A>T p.Gln260Leu Missense 8/16 - 1
5-112137030-G-T c.784G>T p.Glu262* Nonsense 8/16 - 1
5-112137039-G-T c.793G>T p.Gly265* Nonsense 8/16 - 1
5-112137040-G-GG c.794dup p.Val266Serfs*11 Frameshift 8/16 - 2
5-112137045-G-T c.799G>T p.Gly267* Nonsense 8/16 - 1
5-112137046-GG-G c.800del p.Gly267Glufs*26 Frameshift 8/16 - 1
5-112137048-G-T c.802G>T p.Glu268* Nonsense 8/16 - 2
5-112137049-A-C c.803A>C p.Glu268Ala Missense 8/16 - 1
5-112137052-T-TAACAGCC c.806_807insAACAGCC p.Asn270Thrfs*9 Frameshift 8/16 - 1
5-112137058-AT-A c.812del p.Met271Argfs*22 Frameshift 8/16 - 1
5-112137064-CT-TG c.818_819delinsTG p.Thr273Met Missense 8/16 - 1
5-112137066-T-G c.820T>G p.Ser274Ala Missense 8/16 - 3
5-112137070-G-T c.824G>T p.Gly275Val Missense 8/16 - 1
5-112137070-GG-G c.824del p.Gly275Valfs*18 Frameshift 8/16 - 1
5-112137071-T-TT c.825dup p.Asn276* Nonsense 8/16 - 1
5-112137072-AA-GC c.826_827delinsGC p.Asn276Ala Missense 8/16 - 2
5-112137072-A-G c.826A>G p.Asn276Asp Missense 8/16 - 2
5-112137078-C-T c.832C>T p.Gln278* Nonsense 8/16 - 2
5-112137080-G-C c.834G>C p.Gln278His Missense 8/16 - 3
5-112137081-G-C c.834+1G>C - IntronicSNV - 8/15 1
5-112137081-G-A c.834+1G>A - IntronicSNV - 8/15 2
5-112137082-T-A c.834+2T>A - IntronicSNV - 8/15 1
5-112137082-T-C c.834+2T>C - IntronicSNV - 8/15 1
5-112140022-A-G c.834+2942A>G - IntronicSNV - 8/15 1
5-112144444-A-T c.835-6748A>T - IntronicSNV - 8/15 1
5-112144444-A-G c.835-6748A>G - IntronicSNV - 8/15 1
5-112146117-A-G c.835-5075A>G - IntronicSNV - 8/15 9
5-112146181-A-G c.835-5011A>G - IntronicSNV - 8/15 3
5-112149927-A-G c.835-1265A>G - IntronicSNV - 8/15 3
5-112151175-A-G c.835-17A>G - IntronicSNV - 8/15 1
5-112151184-A-G c.835-8A>G - IntronicSNV - 8/15 2
5-112151185-T-G c.835-7T>G - IntronicSNV - 8/15 2
5-112151196-C-A c.839C>A p.Ser280* Nonsense 9/16 - 1
5-112151196-C-G c.839C>G p.Ser280* Nonsense 9/16 - 1
5-112151196-TCAAC-T c.839_842del p.Ser280Leufs*12 Frameshift 9/16 - 1
5-112151204-C-T c.847C>T p.Arg283* Nonsense 9/16 - 15
5-112151204-CG-GC c.847_848delinsGC p.Arg283Ala Missense 9/16 - 1
5-112151213-C-T c.856C>T p.His286Tyr Missense 9/16 - 1
5-112151213-CCATGAAACAGCCAGTGTTTT-C c.856_875del p.His286Glufs*3 Frameshift 9/16 - 1
5-112151215-AT-A c.858del p.His286Glnfs*7 Frameshift 9/16 - 1
5-112151219-A-G c.862A>G p.Thr288Ala Missense 9/16 - 1
5-112151233-G-T c.876G>T p.Leu292Phe Missense 9/16 - 1
5-112151233-G-C c.876G>C p.Leu292Phe Missense 9/16 - 1
5-112151248-A-AA c.891dup p.His298Thrfs*29 Frameshift 9/16 - 1
5-112151252-TC-CG c.895_896delinsCG p.Ser299Arg Missense 9/16 - 1
5-112151253-C-T c.896C>T p.Ser299Phe Missense 9/16 - 1
5-112151255-GC-AA c.898_899delinsAA p.Ala300Lys Missense 9/16 - 8
5-112151256-CA-AC c.899_900delinsAC p.Ala300Asp Missense 9/16 - 1
5-112151258-ACC-A c.901_902del p.Pro301Serfs*25 Frameshift 9/16 - 1
5-112151261-C-T c.904C>T p.Arg302* Nonsense 9/16 - 11
5-112151273-AG-GC c.916_917delinsGC p.Ser306Ala Missense 9/16 - 1
5-112151275-T-A c.918T>A p.Ser306Arg Missense 9/16 - 1
5-112151279-TC-T c.922del p.Leu308Trpfs*28 Frameshift 9/16 - 1
5-112151282-G-A c.925G>A p.Gly309Arg Missense 9/16 - 1
5-112151282-G-C c.925G>C p.Gly309Arg Missense 9/16 - 1
5-112151285-A-G c.928A>G p.Thr310Ala Missense 9/16 - 1
5-112151288-AA-GC c.931_932delinsGC p.Lys311Ala Missense 9/16 - 1
5-112151288-AA-CT c.931_932delinsCT p.Lys311Leu Missense 9/16 - 1
5-112151290-G-C c.933G>C p.Lys311Asn Missense 9/16 - 1
5-112151290-G-T c.933G>T p.Lys311Asn Missense 9/16 - 1
5-112153665-C-T c.934-998C>T - IntronicSNV - 9/15 1
5-112153996-C-G c.934-667C>G - IntronicSNV - 9/15 1
5-112153996-C-A c.934-667C>A - IntronicSNV - 9/15 1
5-112154666-GGA-G c.937_938del p.Glu313Asnfs*13 Frameshift 10/16 - 1
5-112154666-G-A c.937G>A p.Glu313Lys Missense 10/16 - 1
5-112154666-G-C c.937G>C p.Glu313Gln Missense 10/16 - 1
5-112154672-GT-TA c.943_944delinsTA p.Val315* Nonsense 10/16 - 1
5-112154684-TT-AG c.955_956delinsAG p.Leu319Arg Missense 10/16 - 1
5-112154687-T-G c.958T>G p.Ser320Ala Missense 10/16 - 1
5-112154688-C-A c.959C>A p.Ser320* Nonsense 10/16 - 1
5-112154688-C-G c.959C>G p.Ser320* Nonsense 10/16 - 1
5-112154691-TG-GC c.962_963delinsGC p.Met321Ser Missense 10/16 - 2
5-112154693-CT-GC c.964_965delinsGC p.Leu322Ala Missense 10/16 - 1
5-112154696-G-C c.967G>C p.Gly323Arg Missense 10/16 - 1
5-112154697-G-T c.968G>T p.Gly323Val Missense 10/16 - 1
5-112154706-A-C c.977A>C p.Asp326Ala Missense 10/16 - 2
5-112154706-A-G c.977A>G p.Asp326Gly Missense 10/16 - 1
5-112154706-A-T c.977A>T p.Asp326Val Missense 10/16 - 1
5-112154708-AA-GC c.979_980delinsGC p.Lys327Ala Missense 10/16 - 1
5-112154711-G-A c.982G>A p.Asp328Asn Missense 10/16 - 1
5-112154720-T-G c.991T>G p.Ser331Ala Missense 10/16 - 1
5-112154721-C-T c.992C>T p.Ser331Leu Missense 10/16 - 1
5-112154723-C-T c.994C>T p.Arg332* Nonsense 10/16 - 7
5-112154729-TT-GC c.1000_1001delinsGC p.Leu334Ala Missense 10/16 - 1
5-112154733-T-A c.1004T>A p.Leu335Gln Missense 10/16 - 1
5-112154733-T-G c.1004T>G p.Leu335Arg Missense 10/16 - 1
5-112154734-A-G c.1005A>G p.Leu335Leu Synonymous 10/16 - 2
5-112154734-A-C c.1005A>C p.Leu335Leu Synonymous 10/16 - 2
5-112154738-AT-GG c.1009_1010delinsGG p.Met337Gly Missense 10/16 - 1
5-112154738-A-G c.1009A>G p.Met337Val Missense 10/16 - 2
5-112154742-CT-AA c.1013_1014delinsAA p.Ser338* Nonsense 10/16 - 2
5-112154750-C-T c.1021C>T p.Gln341* Nonsense 10/16 - 1
5-112154750-C-G c.1021C>G p.Gln341Glu Missense 10/16 - 1
5-112154771-C-A c.1042C>A p.Arg348Arg Synonymous 10/16 - 1
5-112154773-A-C c.1044A>C p.Arg348Arg Synonymous 10/16 - 1
5-112154771-CG-GC c.1042_1043delinsGC p.Arg348Ala Missense 10/16 - 1
5-112154771-C-T c.1042C>T p.Arg348* Nonsense 10/16 - 3
5-112154773-A-G c.1044A>G p.Arg348Arg Synonymous 10/16 - 1
5-112154773-A-T c.1044A>T p.Arg348Arg Synonymous 10/16 - 1
5-112154777-T-G c.1048T>G p.Ser350Ala Missense 10/16 - 1
5-112154783-TG-AT c.1054_1055delinsAT p.Cys352Ile Missense 10/16 - 1
5-112154801-C-T c.1072C>T p.Gln358* Nonsense 10/16 - 1
5-112154808-T-G c.1079T>G p.Leu360* Nonsense 10/16 - 3
5-112154808-T-A c.1079T>A p.Leu360* Nonsense 10/16 - 3
5-112154812-ATGGCA-A c.1083_1087del p.His361Glnfs*2 Frameshift 10/16 - 1
5-112154817-A-G c.1088A>G p.Asn363Ser Missense 10/16 - 1
5-112154822-AA-GC c.1093_1094delinsGC p.Lys365Ala Missense 10/16 - 2
5-112154826-A-C c.1097A>C p.Asp366Ala Missense 10/16 - 1
5-112154829-TCT-T c.1100_1101del p.Ser367Cysfs*10 Frameshift 10/16 - 1
5-112154831-TGT-T c.1102_1103del p.Val368Ilefs*9 Frameshift 10/16 - 1
5-112154832-T-C c.1103T>C p.Val368Ala Missense 10/16 - 1
5-112154834-TT-AG c.1105_1106delinsAG p.Leu369Arg Missense 10/16 - 1
5-112154839-G-C c.1110G>C p.Leu370Phe Missense 10/16 - 1
5-112154839-G-T c.1110G>T p.Leu370Phe Missense 10/16 - 1
5-112154840-G-T c.1111G>T p.Gly371* Nonsense 10/16 - 1
5-112154843-A-C c.1114A>C p.Asn372His Missense 10/16 - 1
5-112154846-TC-GA c.1117_1118inv p.Ser373Asp Missense 10/16 - 1
5-112154847-CC-AA c.1118_1119delinsAA p.Ser373* Nonsense 10/16 - 1
5-112154855-AG-GC c.1126_1127delinsGC p.Ser376Ala Missense 10/16 - 1
5-112154870-G-A c.1141G>A p.Ala381Thr Missense 10/16 - 1
5-112154873-AGG-CAT c.1144_1146delinsCAT p.Arg382His Missense 10/16 - 1
5-112154873-AG-GA c.1144_1145delinsGA p.Arg382Glu Missense 10/16 - 1
5-112154873-AGG-TGT c.1144_1146delinsTGT p.Arg382Cys Missense 10/16 - 1
5-112154875-G-T c.1146G>T p.Arg382Ser Missense 10/16 - 1
5-112154875-G-C c.1146G>C p.Arg382Ser Missense 10/16 - 1
5-112154879-AG-TT c.1150_1151delinsTT p.Ser384Phe Missense 10/16 - 1
5-112154879-AG-GC c.1150_1151delinsGC p.Ser384Ala Missense 10/16 - 1
5-112154884-A-T c.1155A>T p.Ala385Ala Synonymous 10/16 - 1
5-112154888-C-G c.1159C>G p.Leu387Val Missense 10/16 - 1
5-112154888-CT-TG c.1159_1160delinsTG p.Leu387Cys Missense 10/16 - 1
5-112154902-T-G c.1173T>G p.Ile391Met Missense 10/16 - 1
5-112154907-CA-GT c.1178_1179delinsGT p.Ser393Cys Missense 10/16 - 1
5-112154907-C-A c.1178C>A p.Ser393* Nonsense 10/16 - 1
5-112154909-C-T c.1180C>T p.Gln394* Nonsense 10/16 - 1
5-112154917-T-A c.1188T>A p.Asp396Glu Missense 10/16 - 1
5-112154917-T-G c.1188T>G p.Asp396Glu Missense 10/16 - 1
5-112154921-CAA-C c.1192_1193del p.Lys398Glufs*5 Frameshift 10/16 - 1
5-112154924-AG-CA c.1195_1196delinsCA p.Arg399Gln Missense 10/16 - 8
5-112154928-G-T c.1199G>T p.Gly400Val Missense 10/16 - 2
5-112154942-C-T c.1213C>T p.Arg405* Nonsense 10/16 - 4
5-112154957-TT-AG c.1228_1229delinsAG p.Leu410Arg Missense 10/16 - 1
5-112154962-A-T c.1233A>T p.Glu411Asp Missense 10/16 - 1
5-112154962-A-C c.1233A>C p.Glu411Asp Missense 10/16 - 1
5-112154963-C-T c.1234C>T p.Gln412* Nonsense 10/16 - 1
5-112154969-C-A c.1240C>A p.Arg414Ser Missense 10/16 - 1
5-112154969-C-G c.1240C>G p.Arg414Gly Missense 10/16 - 2
5-112154969-CG-AC c.1240_1241delinsAC p.Arg414Thr Missense 10/16 - 1
5-112154969-CGC-TGA c.1240_1242delinsTGA p.Arg414* Nonsense 10/16 - 1
5-112154969-C-T c.1240C>T p.Arg414Cys Missense 10/16 - 4
5-112154969-CGC-AAG c.1240_1242delinsAAG p.Arg414Lys Missense 10/16 - 1
5-112154971-C-A c.1242C>A p.Arg414Arg Synonymous 10/16 - 1
5-112154971-C-G c.1242C>G p.Arg414Arg Synonymous 10/16 - 1
5-112154971-C-T c.1242C>T p.Arg414Arg Synonymous 10/16 - 1
5-112154977-C-A c.1248C>A p.Tyr416* Nonsense 10/16 - 1
5-112154980-GT-G c.1251del p.Cys417Trpfs*37 Frameshift 10/16 - 1
5-112154991-GG-AA c.1262_1263delinsAA p.Trp421* Missense 10/16 - 1
5-112154991-G-A c.1262G>A p.Trp421* Nonsense 10/16 - 3
5-112154992-G-A c.1263G>A p.Trp421* Nonsense 10/16 - 2
5-112154993-G-T c.1264G>T p.Glu422* Nonsense 10/16 - 1
5-112154996-TGG-CAT c.1267_1269delinsCAT p.Trp423His Missense 10/16 - 2
5-112154998-G-A c.1269G>A p.Trp423* Nonsense 10/16 - 1
5-112155002-G-T c.1273G>T p.Glu425* Nonsense 10/16 - 1
5-112155005-G-T c.1276G>T p.Ala426Ser Missense 10/16 - 2
5-112155013-AA-A c.1284del p.Glu428Aspfs*26 Frameshift 10/16 - 1
5-112155015-CC-C c.1286del p.Pro429Glnfs*25 Frameshift 10/16 - 1
5-112155017-GGC-CAA c.1288_1290delinsCAA p.Gly430Gln Missense 10/16 - 1
5-112155017-GG-TT c.1288_1289delinsTT p.Gly430Phe Missense 10/16 - 1
5-112155032-A-G c.1303A>G p.Lys435Glu Missense 10/16 - 1
5-112155032-AA-GC c.1303_1304delinsGC p.Lys435Ala Missense 10/16 - 5
5-112155039-C-T c.1310C>T p.Pro437Leu Missense 10/16 - 1
5-112155042-G-A c.1312+1G>A - IntronicSNV - 10/15 1
5-112155043-T-C c.1312+2T>C - IntronicSNV - 10/15 1
5-112155045-T-G c.1312+4T>G - IntronicSNV - 10/15 2
5-112155046-G-A c.1312+5G>A - IntronicSNV - 10/15 1
5-112155793-G-A c.1312+752G>A - IntronicSNV - 10/15 1
5-112155793-G-T c.1312+752G>T - IntronicSNV - 10/15 1
5-112155793-G-C c.1312+752G>C - IntronicSNV - 10/15 1
5-112157597-CA-C c.1317del p.Ala440Leufs*14 Frameshift 11/16 - 1
5-112157602-C-T c.1322C>T p.Pro441Leu Missense 11/16 - 1
5-112157605-T-C c.1325T>C p.Val442Ala Missense 11/16 - 1
5-112157607-G-T c.1327G>T p.Glu443* Nonsense 11/16 - 2
5-112157629-T-C c.1349T>C p.Val450Ala Missense 11/16 - 1
5-112157631-TG-GC c.1351_1352delinsGC p.Cys451Ala Missense 11/16 - 1
5-112157647-CTTTC-C c.1367_1370del p.Leu456Hisfs*10 Frameshift 11/16 - 1
5-112157650-C-G c.1370C>G p.Ser457* Nonsense 11/16 - 3
5-112157652-TTT-AAG c.1372_1374delinsAAG p.Phe458Lys Missense 11/16 - 1
5-112157658-G-T c.1378G>T p.Glu460* Nonsense 11/16 - 1
5-112157661-G-T c.1381G>T p.Glu461* Nonsense 11/16 - 2
5-112157682-G-T c.1402G>T p.Glu468* Nonsense 11/16 - 1
5-112157688-G-C c.1408G>C p.Gly470Arg Missense 11/16 - 1
5-112157688-G-A c.1408G>A p.Gly470Arg Missense 11/16 - 1
5-112158417-A-G c.1408+729A>G - IntronicSNV - 11/15 1
5-112158419-C-T c.1408+731C>T - IntronicSNV - 11/15 1
5-112158431-G-A c.1408+743G>A - IntronicSNV - 11/15 1
5-112161469-C-A c.1409-1336C>A - IntronicSNV - 11/15 2
5-112162804-G-A c.1409-1G>A - IntronicSNV - 11/15 2
5-112162807-GGA-AGC c.1411_1413delinsAGC p.Gly471Ser Missense 12/16 - 1
5-112162807-G-T c.1411G>T p.Gly471* Nonsense 12/16 - 1
5-112162808-GG-G c.1412del p.Gly471Aspfs*27 Frameshift 12/16 - 1
5-112162815-G-A c.1419G>A p.Gln473Gln Synonymous 12/16 - 1
5-112162829-T-G c.1433T>G p.Leu478* Nonsense 12/16 - 1
5-112162834-C-T c.1438C>T p.Gln480* Nonsense 12/16 - 2
5-112162847-A-C c.1451A>C p.Glu484Ala Missense 12/16 - 1
5-112162849-A-C c.1453A>C p.Met485Leu Missense 12/16 - 1
5-112162851-G-C c.1455G>C p.Met485Ile Missense 12/16 - 1
5-112162851-G-A c.1455G>A p.Met485Ile Missense 12/16 - 1
5-112162851-G-T c.1455G>T p.Met485Ile Missense 12/16 - 1
5-112162854-T-C c.1458T>C p.Tyr486Tyr Synonymous 12/16 - 35
5-112162854-T-G c.1458T>G p.Tyr486* Nonsense 12/16 - 23
5-112162867-G-T c.1471G>T p.Asp491Tyr Missense 12/16 - 1
5-112162884-A-T c.1488A>T p.Thr496Thr Synonymous 12/16 - 3
5-112162884-A-C c.1488A>C p.Thr496Thr Synonymous 12/16 - 1
5-112162884-A-G c.1488A>G p.Thr496Thr Synonymous 12/16 - 1
5-112162886-T-TT c.1490dup p.Arg498Lysfs*39 Frameshift 12/16 - 1
5-112162891-C-T c.1495C>T p.Arg499* Nonsense 12/16 - 12
5-112162896-T-A c.1500T>A p.Tyr500* Nonsense 12/16 - 2
5-112162897-GC-TG c.1501_1502delinsTG p.Ala501Cys Missense 12/16 - 2
5-112162897-G-A c.1501G>A p.Ala501Thr Missense 12/16 - 1
5-112162898-CT-AG c.1502_1503inv p.Ala501Glu Missense 12/16 - 1
5-112162901-G-A c.1505G>A p.Gly502Glu Missense 12/16 - 1
5-112162909-TTG-GAC c.1513_1515delinsGAC p.Leu505Asp Missense 12/16 - 1
5-112162912-ACA-TGT c.1516_1518inv p.Thr506Cys Missense 12/16 - 1
5-112162917-C-G c.1521C>G p.Asn507Lys Missense 12/16 - 6
5-112162917-C-A c.1521C>A p.Asn507Lys Missense 12/16 - 6
5-112162924-TTT-AAG c.1528_1530delinsAAG p.Phe510Lys Missense 12/16 - 1
5-112162934-GT-G c.1538del p.Val513Glufs*10 Frameshift 12/16 - 1
5-112162942-A-G c.1546A>G p.Lys516Glu Missense 12/16 - 1
5-112162944-G-A c.1548G>A p.Lys516Lys Synonymous 12/16 - 2
5-112162944-G-C c.1548G>C p.Lys516Asn Missense 12/16 - 2
5-112162945-G-A c.1548+1G>A - IntronicSNV - 12/15 2
5-112163077-C-A c.1548+133C>A - IntronicSNV - 12/15 1
5-112163636-TGCTCT-T c.1559_1563del p.Cys520Tyrfs*15 Frameshift 13/16 - 1
5-112163647-GG-AC c.1570_1571delinsAC p.Gly524Thr Missense 13/16 - 1
5-112163648-G-C c.1571G>C p.Gly524Ala Missense 13/16 - 2
5-112163653-A-T c.1576A>T p.Met526Leu Missense 13/16 - 1
5-112163653-A-C c.1576A>C p.Met526Leu Missense 13/16 - 1
5-112163656-A-G c.1579A>G p.Arg527Gly Missense 13/16 - 1
5-112163660-C-T c.1583C>T p.Ala528Val Missense 13/16 - 1
5-112163663-T-TAT c.1586_1587insAT p.Val530Leufs*5 Frameshift 13/16 - 1
5-112163665-G-C c.1588G>C p.Val530Leu Missense 13/16 - 1
5-112163665-G-T c.1588G>T p.Val530Leu Missense 13/16 - 1
5-112163679-AA-A c.1602del p.Lys534Asnfs*15 Frameshift 13/16 - 1
5-112163683-G-A c.1606G>A p.Glu536Lys Missense 13/16 - 1
5-112163689-G-A c.1612G>A p.Glu538Lys Missense 13/16 - 1
5-112163696-T-A c.1619T>A p.Leu540* Nonsense 13/16 - 1
5-112163696-T-G c.1619T>G p.Leu540* Nonsense 13/16 - 1
5-112163697-A-AA c.1620dup p.Gln541Thrfs*19 Frameshift 13/16 - 2
5-112163698-CA-AC c.1621_1622delinsAC p.Gln541Thr Missense 13/16 - 1
5-112163698-C-T c.1621C>T p.Gln541* Nonsense 13/16 - 3
5-112163701-C-T c.1624C>T p.Gln542* Nonsense 13/16 - 1
5-112164368-AACTCCTGGTCTCAGGAGATCCTCCTGCCTCAGCCTCCCAAAGTGATAGGATTACAGGCG-A c.1627-185_1627-127del - Unclassified - 13/15 1
5-112164557-T-C c.1631T>C p.Ile544Thr Missense 14/16 - 1
5-112164559-GC-AA c.1633_1634delinsAA p.Ala545Lys Missense 14/16 - 1
5-112164561-G-C c.1635G>C p.Ala545Ala Synonymous 14/16 - 8
5-112164561-G-T c.1635G>T p.Ala545Ala Synonymous 14/16 - 8
5-112164561-G-A c.1635G>A p.Ala545Ala Synonymous 14/16 - 15
5-112164576-T-A c.1650T>A p.Asn550Lys Missense 14/16 - 2
5-112164576-T-G c.1650T>G p.Asn550Lys Missense 14/16 - 2
5-112164580-T-G c.1654T>G p.Ser552Ala Missense 14/16 - 2
5-112164585-G-A c.1659G>A p.Trp553* Nonsense 14/16 - 1
5-112164586-C-T c.1660C>T p.Arg554* Nonsense 14/16 - 16
5-112164587-G-C c.1661G>C p.Arg554Pro Missense 14/16 - 1
5-112164604-A-G c.1678A>G p.Lys560Glu Missense 14/16 - 1
5-112164604-A-T c.1678A>T p.Lys560* Nonsense 14/16 - 1
5-112164608-A-AA c.1682dup p.Thr562Aspfs*19 Frameshift 14/16 - 1
5-112164608-AA-A c.1682del p.Lys561Argfs*9 Frameshift 14/16 - 1
5-112164610-ACG-GAC c.1684_1686delinsGAC p.Thr562Asp Missense 14/16 - 1
5-112164610-A-G c.1684A>G p.Thr562Ala Missense 14/16 - 1
5-112164611-CG-AC c.1685_1686delinsAC p.Thr562Asn Missense 14/16 - 1
5-112164616-C-T c.1690C>T p.Arg564* Nonsense 14/16 - 16
5-112164617-G-A c.1691G>A p.Arg564Gln Missense 14/16 - 2
5-112164625-G-T c.1699G>T p.Gly567* Nonsense 14/16 - 1
5-112164629-G-A c.1703G>A p.Ser568Asn Missense 14/16 - 1
5-112164649-T-A c.1723T>A p.Cys575Ser Missense 14/16 - 1
5-112164650-G-C c.1724G>C p.Cys575Ser Missense 14/16 - 1
5-112164649-TG-GC c.1723_1724delinsGC p.Cys575Ala Missense 14/16 - 1
5-112164658-G-T c.1732G>T p.Glu578* Nonsense 14/16 - 1
5-112164664-A-T c.1738A>T p.Lys580* Nonsense 14/16 - 1
5-112164668-A-G c.1742A>G p.Lys581Arg Missense 14/16 - 1
5-112167308-T-C c.1743+2639T>C - IntronicSNV - 14/15 3
5-112167587-T-G c.1743+2918T>G - IntronicSNV - 14/15 1
5-112167587-T-C c.1743+2918T>C - IntronicSNV - 14/15 1
5-112168065-A-G c.1744-2583A>G - IntronicSNV - 14/15 1
5-112168184-TGATGAAGAGAGTAAAGTAGCTATTTATTGGGTTAGACCCAAAATGTTTGCTGTGACATT-T c.1744-2464_1744-2406del - Unclassified - 14/15 1
5-112170646-A-G c.1744-2A>G - IntronicSNV - 14/15 2
5-112170647-G-C c.1744-1G>C - IntronicSNV - 14/15 1
5-112170647-G-A c.1744-1G>A - IntronicSNV - 14/15 4
5-112170648-G-A c.1744G>A p.Glu582Lys Missense 15/16 - 2
5-112170648-G-T c.1744G>T p.Glu582* Nonsense 15/16 - 4
5-112170652-C-CC c.1748dup p.Thr584Asnfs*18 Frameshift 15/16 - 1
5-112170660-A-T c.1756A>T p.Lys586* Nonsense 15/16 - 1
5-112170670-T-A c.1766T>A p.Leu589* Nonsense 15/16 - 2
5-112170679-T-G c.1775T>G p.Leu592* Nonsense 15/16 - 1
5-112170682-G-A c.1778G>A p.Trp593* Nonsense 15/16 - 1
5-112170683-G-A c.1779G>A p.Trp593* Nonsense 15/16 - 2
5-112170691-C-G c.1787C>G p.Ser596* Nonsense 15/16 - 1
5-112170693-G-A c.1789G>A p.Ala597Thr Missense 15/16 - 1
5-112170711-A-T c.1807A>T p.Lys603* Nonsense 15/16 - 1
5-112170725-GT-G c.1821del p.Cys607Trpfs*3 Frameshift 15/16 - 1
5-112170726-GC-TG c.1822_1823delinsTG p.Ala608Cys Missense 15/16 - 1
5-112170729-G-GA c.1825_1826insA p.Val609Aspfs*25 Frameshift 15/16 - 1
5-112170731-TAGATG-T c.1827_1831del p.Asp610Cysfs*22 Frameshift 15/16 - 1
5-112170732-G-GG c.1828dup p.Asp610Glyfs*24 Frameshift 15/16 - 2
5-112170744-G-A c.1840G>A p.Ala614Thr Missense 15/16 - 1
5-112170745-C-T c.1841C>T p.Ala614Val Missense 15/16 - 2
5-112170745-C-G c.1841C>G p.Ala614Gly Missense 15/16 - 1
5-112170750-TT-GG c.1846_1847delinsGG p.Leu616Gly Missense 15/16 - 1
5-112170753-G-T c.1849G>T p.Val617Phe Missense 15/16 - 16
5-112170757-GG-G c.1853del p.Gly618Alafs*12 Frameshift 15/16 - 1
5-112170765-A-AA c.1861dup p.Thr621Asnfs*13 Frameshift 15/16 - 2
5-112170770-C-G c.1866C>G p.Tyr622* Nonsense 15/16 - 1
5-112170770-C-A c.1866C>A p.Tyr622* Nonsense 15/16 - 1
5-112170773-G-T c.1869G>T p.Arg623Arg Synonymous 15/16 - 2
5-112170777-C-T c.1873C>T p.Gln625* Nonsense 15/16 - 3
5-112170779-AGACA-A c.1875_1878del p.Asn627Leufs*2 Frameshift 15/16 - 1
5-112170780-ACA-TGT c.1876_1878inv p.Thr626Cys Missense 15/16 - 1
5-112170789-TTT-T c.1885_1886del p.Leu629Serfs*4 Frameshift 15/16 - 1
5-112170790-TT-T c.1886del p.Leu629* Frameshift 15/16 - 1
5-112170793-C-T c.1889C>T p.Ala630Val Missense 15/16 - 1
5-112170804-A-G c.1900A>G p.Ser634Gly Missense 15/16 - 1
5-112170804-AG-GC c.1900_1901delinsGC p.Ser634Ala Missense 15/16 - 1
5-112170819-TT-GC c.1915_1916delinsGC p.Leu639Ala Missense 15/16 - 1
5-112170821-A-AA c.1917dup p.Arg640Thrfs*11 Frameshift 15/16 - 1
5-112170822-C-T c.1918C>T p.Arg640Trp Missense 15/16 - 1
5-112170822-C-G c.1918C>G p.Arg640Gly Missense 15/16 - 1
5-112170843-G-A c.1939G>A p.Ala647Thr Missense 15/16 - 1
5-112170850-A-AG c.1946_1947insG p.Asn649Lysfs*2 Frameshift 15/16 - 1
5-112170860-C-T c.1956C>T p.His652His Synonymous 15/16 - 2
5-112170861-A-G c.1957A>G p.Arg653Gly Missense 15/16 - 2
5-112170862-G-A c.1958G>A p.Arg653Lys Missense 15/16 - 1
5-112170862-G-C c.1958G>C p.Arg653Thr Missense 15/16 - 1
5-112170862-G-T c.1958G>T p.Arg653Met Missense 15/16 - 1
5-112170865-A-T c.1958+3A>T - IntronicSNV - 15/15 1
5-112170865-A-G c.1958+3A>G - IntronicSNV - 15/15 4
5-112170870-T-C c.1958+8T>C - IntronicSNV - 15/15 3
5-112172219-G-A c.1959-1031G>A - IntronicSNV - 15/15 1
5-112172219-G-C c.1959-1031G>C - IntronicSNV - 15/15 1
5-112173249-G-A c.1959-1G>A - IntronicSNV - 15/15 1
5-112170861-A-C c.1957A>C p.Arg653Arg Synonymous 15/16 - 3
5-112173250-G-A c.1959G>A p.Arg653Arg Synonymous 16/16 - 4
5-112173250-G-C c.1959G>C p.Arg653Ser Missense 16/16 - 1
5-112173250-G-T c.1959G>T p.Arg653Ser Missense 16/16 - 1
5-112173257-C-G c.1966C>G p.Leu656Val Missense 16/16 - 2
5-112173263-G-T c.1972G>T p.Glu658* Nonsense 16/16 - 1
5-112173263-AGAGA-A c.1972_1975del p.Glu658Thrfs*11 Frameshift 16/16 - 1
5-112173275-C-A c.1984C>A p.Leu662Ile Missense 16/16 - 3
5-112173280-A-G c.1989A>G p.Gln663Gln Synonymous 16/16 - 1
5-112173283-T-TA c.1992_1993insA p.Leu665Ilefs*9 Frameshift 16/16 - 1
5-112173285-T-A c.1994T>A p.Leu665* Nonsense 16/16 - 1
5-112173288-T-A c.1997T>A p.Leu666* Nonsense 16/16 - 1
5-112173288-T-G c.1997T>G p.Leu666* Nonsense 16/16 - 1
5-112173290-C-T c.1999C>T p.Gln667* Nonsense 16/16 - 2
5-112173294-CA-C c.2003del p.His668Profs*2 Frameshift 16/16 - 1
5-112173296-TT-GC c.2005_2006delinsGC p.Leu669Ala Missense 16/16 - 1
5-112173301-A-T c.2010A>T p.Lys670Asn Missense 16/16 - 1
5-112173301-A-C c.2010A>C p.Lys670Asn Missense 16/16 - 1
5-112173307-ATAGTTTGACAATAGTCAGTAATGCATGTGGAA-A c.2016_2047del p.Ser673Phefs*10 Frameshift 16/16 - 3
5-112173322-TCAGT-T c.2031_2034del p.Ser678Metfs*39 Frameshift 16/16 - 2
5-112173336-G-C c.2045G>C p.Gly682Ala Missense 16/16 - 1
5-112173336-G-A c.2045G>A p.Gly682Glu Missense 16/16 - 1
5-112173338-A-C c.2047A>C p.Thr683Pro Missense 16/16 - 1
5-112173339-C-T c.2048C>T p.Thr683Ile Missense 16/16 - 1
5-112173345-G-A c.2054G>A p.Trp685* Nonsense 16/16 - 2
5-112173374-CA-GC c.2083_2084delinsGC p.Gln695Ala Missense 16/16 - 2
5-112173384-T-G c.2093T>G p.Leu698* Nonsense 16/16 - 1
5-112173387-G-A c.2096G>A p.Trp699* Nonsense 16/16 - 1
5-112173388-G-A c.2097G>A p.Trp699* Nonsense 16/16 - 1
5-112173389-G-GG c.2098dup p.Asp700Glyfs*6 Frameshift 16/16 - 1
5-112173404-AG-GC c.2113_2114delinsGC p.Ser705Ala Missense 16/16 - 1
5-112173407-CA-C c.2116del p.Met706Cysfs*12 Frameshift 16/16 - 1
5-112173419-C-T c.2128C>T p.Leu710Phe Missense 16/16 - 1
5-112173429-C-G c.2138C>G p.Ser713* Nonsense 16/16 - 2
5-112173433-G-GG c.2142dup p.His715Alafs*19 Frameshift 16/16 - 1
5-112173441-T-A c.2150T>A p.Met717Lys Missense 16/16 - 1
5-112173448-CT-C c.2157del p.Met720Trpfs*7 Frameshift 16/16 - 1
5-112173449-A-G c.2158A>G p.Met720Val Missense 16/16 - 1
5-112173452-G-T c.2161G>T p.Gly721* Nonsense 16/16 - 1
5-112173470-AG-TA c.2179_2180delinsTA p.Arg727* Nonsense 16/16 - 1
5-112173472-G-GG c.2181dup p.Asn728Glufs*6 Frameshift 16/16 - 1
5-112173477-T-TT c.2186dup p.Met730Hisfs*4 Frameshift 16/16 - 1
5-112173495-C-T c.2204C>T p.Ala735Val Missense 16/16 - 1
5-112173502-C-G c.2211C>G p.Tyr737* Nonsense 16/16 - 1
5-112173513-A-AA c.2222dup p.Asn741Lysfs*15 Frameshift 16/16 - 1
5-112173531-C-G c.2240C>G p.Ser747* Nonsense 16/16 - 2
5-112173540-C-G c.2249C>G p.Pro750Arg Missense 16/16 - 1
5-112173549-A-G c.2258A>G p.His753Arg Missense 16/16 - 1
5-112173554-AG-GC c.2263_2264delinsGC p.Arg755Ala Missense 16/16 - 2
5-112173560-C-T c.2269C>T p.Gln757* Nonsense 16/16 - 1
5-112173565-AA-A c.2274del p.Ala759Profs*2 Frameshift 16/16 - 1
5-112173578-G-T c.2287G>T p.Glu763* Nonsense 16/16 - 1
5-112173590-C-T c.2299C>T p.Gln767* Nonsense 16/16 - 1
5-112173601-CA-C c.2310del p.Glu771Lysfs*6 Frameshift 16/16 - 1
5-112173602-G-GGTG c.2311_2312insGTG p.Ser770_Glu771insGly InFrameInsertion 16/16 - 1
5-112173625-ATTTAA-A c.2334_2338del p.Asn778Lysfs*8 Frameshift 16/16 - 1
5-112173627-T-TT c.2336dup p.Leu779Phefs*9 Frameshift 16/16 - 2
5-112173627-TT-T c.2336del p.Leu779* Frameshift 16/16 - 2
5-112173628-A-C c.2337A>C p.Leu779Phe Missense 16/16 - 1
5-112173628-A-T c.2337A>T p.Leu779Phe Missense 16/16 - 1
5-112173641-T-A c.2350T>A p.Ser784Thr Missense 16/16 - 1
5-112173654-A-G c.2363A>G p.Lys788Arg Missense 16/16 - 1
5-112173656-C-T c.2365C>T p.Gln789* Nonsense 16/16 - 3
5-112173659-A-T c.2368A>T p.Arg790* Nonsense 16/16 - 1
5-112173678-TAT-T c.2387_2388del p.Tyr796Trpfs*2 Frameshift 16/16 - 1
5-112173681-G-A c.2390G>A p.Gly797Asp Missense 16/16 - 1
5-112173681-G-C c.2390G>C p.Gly797Ala Missense 16/16 - 1
5-112173681-GG-G c.2390del p.Gly797Valfs*23 Frameshift 16/16 - 1
5-112173683-G-A c.2392G>A p.Asp798Asn Missense 16/16 - 1
5-112173686-T-TT c.2395dup p.Tyr799Leufs*4 Frameshift 16/16 - 1
5-112173688-T-A c.2397T>A p.Tyr799* Nonsense 16/16 - 1
5-112173690-T-C c.2399T>C p.Val800Ala Missense 16/16 - 1
5-112173692-TT-GC c.2401_2402delinsGC p.Phe801Ala Missense 16/16 - 1
5-112173698-AC-TG c.2407_2408delinsTG p.Thr803Cys Missense 16/16 - 1
5-112173704-C-T c.2413C>T p.Arg805* Nonsense 16/16 - 10
5-112173714-A-G c.2423A>G p.Asp808Gly Missense 16/16 - 1
5-112173716-AA-CT c.2425_2426delinsCT p.Asn809Leu Missense 16/16 - 1
5-112173723-C-G c.2432C>G p.Ser811* Nonsense 16/16 - 4
5-112173723-C-A c.2432C>A p.Ser811* Nonsense 16/16 - 4
5-112173728-AA-GC c.2437_2438delinsGC p.Asn813Ala Missense 16/16 - 1
5-112173729-A-G c.2438A>G p.Asn813Ser Missense 16/16 - 3
5-112173739-T-C c.2448T>C p.Thr816Thr Synonymous 16/16 - 1
5-112173755-CTT-ATG c.2464_2466delinsATG p.Leu822Met Missense 16/16 - 1
5-112173787-CC-C c.2496del p.Ser833Alafs*9 Frameshift 16/16 - 1
5-112173801-C-CT c.2510_2511insT p.Arg838Lysfs*6 Frameshift 16/16 - 1
5-112173801-C-G c.2510C>G p.Ser837* Nonsense 16/16 - 3
5-112173807-G-A c.2516G>A p.Gly839Glu Missense 16/16 - 1
5-112173816-A-G c.2525A>G p.Asp842Gly Missense 16/16 - 1
5-112173816-A-T c.2525A>T p.Asp842Val Missense 16/16 - 2
5-112173817-T-TT c.2526dup p.Ser843* Nonsense 16/16 - 1
5-112173827-TC-GA c.2536_2537inv p.Ser846Asp Missense 16/16 - 1
5-112173830-G-T c.2539G>T p.Glu847* Nonsense 16/16 - 1
5-112173833-A-T c.2542A>T p.Lys848* Nonsense 16/16 - 1
5-112173836-AG-A c.2545del p.Asp849Ilefs*12 Frameshift 16/16 - 1
5-112173838-ATAGA-A c.2547_2550del p.Asp849Glufs*11 Frameshift 16/16 - 5
5-112173839-A-T c.2548A>T p.Arg850* Nonsense 16/16 - 5
5-112173848-G-T c.2557G>T p.Glu853* Nonsense 16/16 - 11
5-112173857-C-T c.2566C>T p.Arg856Cys Missense 16/16 - 1
5-112173860-G-T c.2569G>T p.Gly857* Nonsense 16/16 - 2
5-112173877-C-CCA c.2586_2587insCA p.Tyr863Hisfs*54 Frameshift 16/16 - 1
5-112173893-G-A c.2602G>A p.Glu868Lys Missense 16/16 - 1
5-112173897-A-C c.2606A>C p.Asn869Thr Missense 16/16 - 1
5-112173899-C-T c.2608C>T p.Pro870Ser Missense 16/16 - 2
5-112173905-A-G c.2614A>G p.Thr872Ala Missense 16/16 - 1
5-112173914-AA-GC c.2623_2624delinsGC p.Lys875Ala Missense 16/16 - 1
5-112173917-C-T c.2626C>T p.Arg876* Nonsense 16/16 - 41
5-112173929-A-C c.2638A>C p.Ile880Leu Missense 16/16 - 1
5-112173929-GA-G c.2638del p.Ile880Serfs*36 Frameshift 16/16 - 1
5-112173930-T-C c.2639T>C p.Ile880Thr Missense 16/16 - 1
5-112173937-C-T c.2646C>T p.Thr882Thr Synonymous 16/16 - 1
5-112173947-C-T c.2656C>T p.Gln886* Nonsense 16/16 - 2
5-112173953-G-A c.2662G>A p.Ala888Thr Missense 16/16 - 1
5-112173953-G-T c.2662G>T p.Ala888Ser Missense 16/16 - 1
5-112173954-C-T c.2663C>T p.Ala888Val Missense 16/16 - 1
5-112173955-C-CT c.2664_2665insT p.Lys889* Nonsense 16/16 - 1
5-112173964-G-C c.2673G>C p.Met891Ile Missense 16/16 - 1
5-112173965-G-A c.2674G>A p.Glu892Lys Missense 16/16 - 1
5-112173968-G-T c.2677G>T p.Glu893* Nonsense 16/16 - 3
5-112173968-G-A c.2677G>A p.Glu893Lys Missense 16/16 - 1
5-112173969-A-C c.2678A>C p.Glu893Ala Missense 16/16 - 1
5-112173975-C-A c.2684C>A p.Ser895* Nonsense 16/16 - 1
5-112173975-C-T c.2684C>T p.Ser895Leu Missense 16/16 - 1
5-112173978-C-G c.2687C>G p.Ala896Gly Missense 16/16 - 3
5-112173978-C-T c.2687C>T p.Ala896Val Missense 16/16 - 1
5-112173988-C-T c.2697C>T p.Thr899Thr Synonymous 16/16 - 1
5-112173992-C-T c.2701C>T p.Gln901* Nonsense 16/16 - 2
5-112173997-AAGACAGAAGTTCTGGGTCTA-A c.2706_2725del p.Glu902Aspfs*3 Frameshift 16/16 - 1
5-112174008-C-T c.2717C>T p.Ser906Phe Missense 16/16 - 1
5-112174016-A-G c.2725A>G p.Thr909Ala Missense 16/16 - 1
5-112174018-CC-C c.2727del p.Thr910Leufs*6 Frameshift 16/16 - 1
5-112174026-T-A c.2735T>A p.Leu912* Nonsense 16/16 - 1
5-112174026-T-G c.2735T>G p.Leu912* Nonsense 16/16 - 1
5-112174037-A-G c.2746A>G p.Thr916Ala Missense 16/16 - 1
5-112174040-G-T c.2749G>T p.Asp917Tyr Missense 16/16 - 1
5-112174046-A-T c.2755A>T p.Arg919* Nonsense 16/16 - 1
5-112174049-AAA-A c.2758_2759del p.Asn920Cysfs*3 Frameshift 16/16 - 1
5-112174058-A-T c.2767A>T p.Arg923* Nonsense 16/16 - 1
5-112174062-G-GT c.2771_2772insT p.Arg924Serfs*16 Frameshift 16/16 - 1
5-112174071-C-G c.2780C>G p.Ala927Gly Missense 16/16 - 1
5-112174074-C-A c.2783C>A p.Ala928Asp Missense 16/16 - 1
5-112174088-AAACA-A c.2797_2800del p.Asn933Leufs*21 Frameshift 16/16 - 1
5-112174093-T-G c.2802T>G p.Thr934Thr Synonymous 16/16 - 1
5-112174093-T-A c.2802T>A p.Thr934Thr Synonymous 16/16 - 1
5-112174093-T-C c.2802T>C p.Thr934Thr Synonymous 16/16 - 1
5-112174093-CTTAC-C c.2802_2805del p.Tyr935Ilefs*19 Frameshift 16/16 - 2
5-112174094-T-A c.2803T>A p.Tyr935Asn Missense 16/16 - 1
5-112174095-A-AA c.2804dup p.Tyr935* Nonsense 16/16 - 4
5-112174096-C-G c.2805C>G p.Tyr935* Nonsense 16/16 - 4
5-112174096-C-A c.2805C>A p.Tyr935* Nonsense 16/16 - 8
5-112174096-ACAATTTCACTA-A c.2805_2815del p.Tyr935* Frameshift 16/16 - 1
5-112174106-A-C c.2815A>C p.Lys939Gln Missense 16/16 - 3
5-112174110-C-A c.2819C>A p.Ser940* Nonsense 16/16 - 1
5-112174112-G-T c.2821G>T p.Glu941* Nonsense 16/16 - 2
5-112174118-T-C c.2827T>C p.Ser943Pro Missense 16/16 - 1
5-112174119-C-G c.2828C>G p.Ser943* Nonsense 16/16 - 1
5-112174121-A-G c.2830A>G p.Asn944Asp Missense 16/16 - 1
5-112174122-A-C c.2831A>C p.Asn944Thr Missense 16/16 - 1
5-112174129-CAT-C c.2838_2839del p.Cys947Phefs*15 Frameshift 16/16 - 1
5-112174154-G-T c.2863G>T p.Glu955* Nonsense 16/16 - 1
5-112174167-C-T c.2876C>T p.Ser959Phe Missense 16/16 - 1
5-112174185-AA-A c.2894del p.Asn965Ilefs*15 Frameshift 16/16 - 1
5-112174192-C-A c.2901C>A p.Val967Val Synonymous 16/16 - 1
5-112174202-G-A c.2911G>A p.Asp971Asn Missense 16/16 - 1
5-112174205-G-C c.2914G>C p.Gly972Arg Missense 16/16 - 3
5-112174211-GG-AA c.2920_2921delinsAA p.Gly974Asn Missense 16/16 - 1
5-112174219-GAG-G c.2928_2929del p.Gly977Serfs*7 Frameshift 16/16 - 1
5-112174223-C-T c.2932C>T p.Gln978* Nonsense 16/16 - 5
5-112174225-A-C c.2934A>C p.Gln978His Missense 16/16 - 1
5-112174225-A-T c.2934A>T p.Gln978His Missense 16/16 - 1
5-112174233-C-G c.2942C>G p.Pro981Arg Missense 16/16 - 1
5-112174249-T-G c.2958T>G p.Tyr986* Nonsense 16/16 - 3
5-112174256-G-A c.2965G>A p.Asp989Asn Missense 16/16 - 1
5-112174262-G-T c.2971G>T p.Glu991* Nonsense 16/16 - 3
5-112174268-A-T c.2977A>T p.Lys993* Nonsense 16/16 - 1
5-112174268-TAAGT-T c.2977_2980del p.Lys993Phefs*11 Frameshift 16/16 - 1
5-112174270-AG-A c.2979del p.Lys993Asnfs*12 Frameshift 16/16 - 1
5-112174272-TTTTGCAGTTAT-T c.2981_2991del p.Phe994Trpfs*10 Frameshift 16/16 - 1
5-112174275-TG-T c.2984del p.Cys995Serfs*10 Frameshift 16/16 - 1
5-112174278-G-GAC c.2987_2988insAC p.Ser996Argfs*10 Frameshift 16/16 - 1
5-112174282-T-A c.2991T>A p.Tyr997* Nonsense 16/16 - 1
5-112174318-T-TT c.3027dup p.Ser1010* Nonsense 16/16 - 1
5-112174341-AATGA-A c.3050_3053del p.Asn1017Metfs*4 Frameshift 16/16 - 3
5-112174349-G-A c.3058G>A p.Glu1020Lys Missense 16/16 - 3
5-112174357-T-TGA c.3066_3067insGA p.Thr1023Glufs*4 Frameshift 16/16 - 1
5-112174358-A-AA c.3067dup p.Thr1023Asnfs*6 Frameshift 16/16 - 1
5-112174368-A-G c.3077A>G p.Asn1026Ser Missense 16/16 - 4
5-112174371-A-G c.3080A>G p.Tyr1027Cys Missense 16/16 - 1
5-112174379-A-T c.3088A>T p.Lys1030* Nonsense 16/16 - 1
5-112174384-T-A c.3093T>A p.Tyr1031* Nonsense 16/16 - 1
5-112174386-C-A c.3095C>A p.Ser1032* Nonsense 16/16 - 1
5-112174395-A-G c.3104A>G p.Gln1035Arg Missense 16/16 - 1
5-112174412-C-T c.3121C>T p.Gln1041* Nonsense 16/16 - 1
5-112174415-AA-A c.3124del p.Ser1042Valfs*14 Frameshift 16/16 - 1
5-112174416-G-T c.3125G>T p.Ser1042Ile Missense 16/16 - 1
5-112174422-C-T c.3131C>T p.Ser1044Leu Missense 16/16 - 1
5-112174424-C-T c.3133C>T p.Gln1045* Nonsense 16/16 - 2
5-112174430-G-T c.3139G>T p.Glu1047* Nonsense 16/16 - 1
5-112174431-A-G c.3140A>G p.Glu1047Gly Missense 16/16 - 3
5-112174438-G-A c.3147G>A p.Trp1049* Nonsense 16/16 - 1
5-112174437-G-A c.3146G>A p.Trp1049* Nonsense 16/16 - 1
5-112174440-GC-G c.3149del p.Ala1050Glufs*6 Frameshift 16/16 - 2
5-112174455-ATA-A c.3164_3165del p.Ile1055Asnfs*4 Frameshift 16/16 - 1
5-112174456-A-G c.3165A>G p.Ile1055Met Missense 16/16 - 1
5-112174457-AA-A c.3166del p.Ile1056* Frameshift 16/16 - 1
5-112174457-A-AA c.3166dup p.Ile1056Asnfs*4 Frameshift 16/16 - 1
5-112174460-G-T c.3169G>T p.Glu1057* Nonsense 16/16 - 2
5-112174469-AA-A c.3178del p.Ile1060* Frameshift 16/16 - 1
5-112174471-A-AT c.3180_3181insT p.Lys1061* Nonsense 16/16 - 1
5-112174473-AAA-A c.3182_3183del p.Lys1061Thrfs*3 Frameshift 16/16 - 1
5-112174474-AACAAA-A c.3183_3187del p.Gln1062* Frameshift 16/16 - 14
5-112174475-C-T c.3184C>T p.Gln1062* Nonsense 16/16 - 4
5-112174475-ACAAA-A c.3184_3187del p.Gln1062Valfs*63 Frameshift 16/16 - 1
5-112174477-AAA-A c.3186_3187del p.Ser1063* Frameshift 16/16 - 1
5-112174480-GTGAG-G c.3189_3192del p.Glu1064Lysfs*61 Frameshift 16/16 - 1
5-112174484-C-T c.3193C>T p.Gln1065* Nonsense 16/16 - 1
5-112174490-C-T c.3199C>T p.Gln1067* Nonsense 16/16 - 2
5-112174490-CA-AC c.3199_3200delinsAC p.Gln1067Thr Missense 16/16 - 1
5-112174493-ATCAA-A c.3202_3205del p.Ser1068Glyfs*57 Frameshift 16/16 - 6
5-112174494-TCAAG-T c.3203_3206del p.Ser1068* Frameshift 16/16 - 1
5-112174494-C-A c.3203C>A p.Ser1068* Nonsense 16/16 - 1
5-112174494-C-G c.3203C>G p.Ser1068* Nonsense 16/16 - 1
5-112174496-A-AA c.3205dup p.Arg1069Lysfs*12 Frameshift 16/16 - 1
5-112174505-AA-A c.3214del p.Ser1072Valfs*54 Frameshift 16/16 - 1
5-112174515-A-AA c.3224dup p.Tyr1075* Nonsense 16/16 - 1
5-112174517-C-A c.3226C>A p.Pro1076Thr Missense 16/16 - 1
5-112174527-C-G c.3236C>G p.Thr1079Ser Missense 16/16 - 1
5-112174548-CAC-C c.3257_3258del p.His1086Profs*32 Frameshift 16/16 - 1
5-112174551-CTC-C c.3260_3261del p.Leu1087Glnfs*31 Frameshift 16/16 - 2
5-112174580-G-T c.3289G>T p.Glu1097* Nonsense 16/16 - 1
5-112174586-G-A c.3295G>A p.Val1099Ile Missense 16/16 - 1
5-112174589-T-G c.3298T>G p.Ser1100Ala Missense 16/16 - 1
5-112174589-T-TT c.3298dup p.Ser1100Phefs*19 Frameshift 16/16 - 1
5-112174598-A-T c.3307A>T p.Arg1103Trp Missense 16/16 - 1
5-112174600-G-A c.3309G>A p.Arg1103Arg Synonymous 16/16 - 1
5-112174601-GTCACGGG-G c.3310_3316del p.Ser1104Glufs*20 Frameshift 16/16 - 1
5-112174604-C-T c.3313C>T p.Arg1105Trp Missense 16/16 - 2
5-112174604-CG-TA c.3313_3314delinsTA p.Arg1105* Nonsense 16/16 - 1
5-112174607-G-T c.3316G>T p.Gly1106* Nonsense 16/16 - 1
5-112174607-G-C c.3316G>C p.Gly1106Arg Missense 16/16 - 1
5-112174607-G-A c.3316G>A p.Gly1106Arg Missense 16/16 - 1
5-112174608-GG-G c.3317del p.Gly1106Glufs*20 Frameshift 16/16 - 1
5-112174608-G-GG c.3317dup p.Ala1107Serfs*12 Frameshift 16/16 - 1
5-112174614-A-G c.3323A>G p.Asn1108Ser Missense 16/16 - 1
5-112174620-C-G c.3329C>G p.Ser1110* Nonsense 16/16 - 1
5-112174620-C-A c.3329C>A p.Ser1110* Nonsense 16/16 - 1
5-112174622-G-T c.3331G>T p.Glu1111* Nonsense 16/16 - 1
5-112174631-C-T c.3340C>T p.Arg1114* Nonsense 16/16 - 34
5-112174636-G-T c.3345G>T p.Val1115Val Synonymous 16/16 - 1
5-112174637-G-C c.3346G>C p.Gly1116Arg Missense 16/16 - 1
5-112174649-G-T c.3358G>T p.Gly1120* Nonsense 16/16 - 1
5-112174650-G-C c.3359G>C p.Gly1120Ala Missense 16/16 - 1
5-112174650-G-A c.3359G>A p.Gly1120Glu Missense 16/16 - 2
5-112174657-ATCAA-A c.3366_3369del p.Asn1122Lysfs*3 Frameshift 16/16 - 1
5-112174658-C-T c.3367C>T p.Gln1123* Nonsense 16/16 - 2
5-112174661-AAT-TAA c.3370_3372delinsTAA p.Asn1124* Nonsense 16/16 - 1
5-112174665-T-C c.3374T>C p.Val1125Ala Missense 16/16 - 4
5-112174667-AG-GC c.3376_3377delinsGC p.Ser1126Ala Missense 16/16 - 1
5-112174667-A-C c.3376A>C p.Ser1126Arg Missense 16/16 - 1
5-112174669-C-A c.3378C>A p.Ser1126Arg Missense 16/16 - 1
5-112174669-C-G c.3378C>G p.Ser1126Arg Missense 16/16 - 1
5-112174677-T-C c.3386T>C p.Leu1129Ser Missense 16/16 - 8
5-112174682-C-T c.3391C>T p.Gln1131* Nonsense 16/16 - 4
5-112174691-G-C c.3400G>C p.Asp1134His Missense 16/16 - 1
5-112174695-TAT-T c.3404_3405del p.Tyr1135* Frameshift 16/16 - 1
5-112174704-GA-G c.3413del p.Asp1138Valfs*27 Frameshift 16/16 - 1
5-112174710-C-T c.3419C>T p.Pro1140Leu Missense 16/16 - 1
5-112174710-CC-C c.3419del p.Pro1140Leufs*25 Frameshift 16/16 - 2
5-112174718-TT-T c.3427del p.Tyr1143Ilefs*22 Frameshift 16/16 - 1
5-112174724-G-A c.3433G>A p.Glu1145Lys Missense 16/16 - 1
5-112174724-G-T c.3433G>T p.Glu1145* Nonsense 16/16 - 1
5-112174727-C-T c.3436C>T p.Arg1146Cys Missense 16/16 - 1
5-112174751-G-T c.3460G>T p.Glu1154* Nonsense 16/16 - 1
5-112174758-A-G c.3467A>G p.Glu1156Gly Missense 16/16 - 1
5-112174759-A-AT c.3468_3469insT p.Glu1157* Nonsense 16/16 - 1
5-112174759-AAGA-A c.3468_3470del p.Glu1157del InFrameDeletion 16/16 - 2
5-112174762-AGAGA-A c.3471_3474del p.Glu1157Aspfs*7 Frameshift 16/16 - 2
5-112174764-AGA-A c.3473_3474del p.Arg1158Thrfs*5 Frameshift 16/16 - 1
5-112174770-C-A c.3479C>A p.Thr1160Lys Missense 16/16 - 2
5-112174777-T-A c.3486T>A p.Tyr1162* Nonsense 16/16 - 1
5-112174778-AGC-TGA c.3487_3489delinsTGA p.Ser1163* Nonsense 16/16 - 1
5-112174789-T-A c.3498T>A p.Tyr1166* Nonsense 16/16 - 1
5-112174796-AGAGAA-A c.3505_3509del p.Glu1169Thrfs*8 Frameshift 16/16 - 1
5-112174802-C-G c.3511C>G p.Arg1171Gly Missense 16/16 - 1
5-112174802-C-T c.3511C>T p.Arg1171Cys Missense 16/16 - 1
5-112174803-G-A c.3512G>A p.Arg1171His Missense 16/16 - 3
5-112174804-T-TT c.3513dup p.His1172Serfs*7 Frameshift 16/16 - 1
5-112174807-T-A c.3516T>A p.His1172Gln Missense 16/16 - 1
5-112174807-T-G c.3516T>G p.His1172Gln Missense 16/16 - 1
5-112174809-T-G c.3518T>G p.Val1173Gly Missense 16/16 - 1
5-112174813-ATC-A c.3522_3523del p.Asp1174Glufs*4 Frameshift 16/16 - 1
5-112174814-C-T c.3523C>T p.Gln1175* Nonsense 16/16 - 1
5-112174818-C-T c.3527C>T p.Pro1176Leu Missense 16/16 - 1
5-112174822-T-TT c.3531dup p.Asp1178* Nonsense 16/16 - 1
5-112174828-ATAGTTTA-A c.3537_3543del p.Tyr1179* Frameshift 16/16 - 1
5-112174828-ATA-A c.3537_3538del p.Tyr1179* Frameshift 16/16 - 1
5-112174839-A-T c.3548A>T p.Tyr1183Phe Missense 16/16 - 1
5-112174854-CC-C c.3563del p.Pro1188Leufs*77 Frameshift 16/16 - 1
5-112174857-C-A c.3566C>A p.Ser1189* Nonsense 16/16 - 1
5-112174857-C-G c.3566C>G p.Ser1189* Nonsense 16/16 - 1
5-112174860-C-A c.3569C>A p.Ser1190* Nonsense 16/16 - 1
5-112174860-C-G c.3569C>G p.Ser1190* Nonsense 16/16 - 1
5-112174867-AA-A c.3576del p.Lys1192Asnfs*73 Frameshift 16/16 - 1
5-112174874-TT-GC c.3583_3584delinsGC p.Phe1195Ala Missense 16/16 - 1
5-112174878-C-A c.3587C>A p.Ser1196* Nonsense 16/16 - 3
5-112174881-T-C c.3590T>C p.Phe1197Ser Missense 16/16 - 1
5-112174886-AAA-A c.3595_3596del p.Lys1199Glufs*8 Frameshift 16/16 - 1
5-112174886-A-T c.3595A>T p.Lys1199* Nonsense 16/16 - 1
5-112174916-G-T c.3625G>T p.Glu1209* Nonsense 16/16 - 1
5-112174916-G-A c.3625G>A p.Glu1209Lys Missense 16/16 - 1
5-112174922-A-G c.3631A>G p.Met1211Val Missense 16/16 - 2
5-112174924-TGT-T c.3633_3634del p.Met1211Ilefs*5 Frameshift 16/16 - 1
5-112174944-C-T c.3653C>T p.Thr1218Met Missense 16/16 - 1
5-112174959-TC-T c.3668del p.Ser1223Leufs*42 Frameshift 16/16 - 1
5-112174973-C-T c.3682C>T p.Gln1228* Nonsense 16/16 - 3
5-112174979-C-T c.3688C>T p.Gln1230* Nonsense 16/16 - 1
5-112174989-C-T c.3698C>T p.Pro1233Leu Missense 16/16 - 1
5-112174991-AGT-TGA c.3700_3702delinsTGA p.Ser1234* Nonsense 16/16 - 1
5-112175000-ACA-A c.3709_3710del p.Gln1237Glufs*2 Frameshift 16/16 - 1
5-112175000-C-T c.3709C>T p.Gln1237* Nonsense 16/16 - 1
5-112175021-C-CC c.3730dup p.Gln1244Profs*12 Frameshift 16/16 - 1
5-112175022-A-T c.3731A>T p.Gln1244Leu Missense 16/16 - 1
5-112175027-G-A c.3736G>A p.Ala1246Thr Missense 16/16 - 1
5-112175030-G-A c.3739G>A p.Ala1247Thr Missense 16/16 - 1
5-112175031-C-T c.3740C>T p.Ala1247Val Missense 16/16 - 1
5-112175038-C-A c.3747C>A p.Cys1249* Nonsense 16/16 - 1
5-112175039-A-T c.3748A>T p.Lys1250* Nonsense 16/16 - 2
5-112175041-AAG-A c.3750_3751del p.Lys1250Asnfs*5 Frameshift 16/16 - 1
5-112175048-T-G c.3757T>G p.Ser1253Ala Missense 16/16 - 1
5-112175057-CA-GC c.3766_3767delinsGC p.Gln1256Ala Missense 16/16 - 1
5-112175066-A-C c.3775A>C p.Ile1259Leu Missense 16/16 - 1
5-112175066-AT-GC c.3775_3776delinsGC p.Ile1259Ala Missense 16/16 - 2
5-112175075-TA-GC c.3784_3785delinsGC p.Tyr1262Ala Missense 16/16 - 2
5-112175077-T-A c.3786T>A p.Tyr1262* Nonsense 16/16 - 1
5-112175079-G-T c.3788G>T p.Cys1263Phe Missense 16/16 - 1
5-112175094-CCAATATGTTTTTC-C c.3803_3815del p.Pro1268Glnfs*16 Frameshift 16/16 - 1
5-112175098-TAT-T c.3807_3808del p.Ile1269Metfs*6 Frameshift 16/16 - 1
5-112175106-C-A c.3815C>A p.Ser1272* Nonsense 16/16 - 1
5-112175118-C-G c.3827C>G p.Ser1276* Nonsense 16/16 - 1
5-112175121-TT-T c.3830del p.Leu1277Tyrfs*11 Frameshift 16/16 - 1
5-112175124-C-A c.3833C>A p.Ser1278* Nonsense 16/16 - 2
5-112175129-TTT-T c.3838_3839del p.Leu1280Valfs*4 Frameshift 16/16 - 1
5-112175133-C-G c.3842C>G p.Ser1281* Nonsense 16/16 - 1
5-112175133-C-A c.3842C>A p.Ser1281* Nonsense 16/16 - 1
5-112175141-G-T c.3850G>T p.Glu1284* Nonsense 16/16 - 2
5-112175141-G-A c.3850G>A p.Glu1284Lys Missense 16/16 - 2
5-112175147-G-T c.3856G>T p.Glu1286* Nonsense 16/16 - 4
5-112175162-C-T c.3871C>T p.Gln1291* Nonsense 16/16 - 5
5-112175162-C-G c.3871C>G p.Gln1291Glu Missense 16/16 - 1
5-112175166-C-T c.3875C>T p.Thr1292Met Missense 16/16 - 1
5-112175171-C-T c.3880C>T p.Gln1294* Nonsense 16/16 - 5
5-112175171-ACA-A c.3880_3881del p.Gln1294Glyfs*6 Frameshift 16/16 - 3
5-112175174-G-T c.3883G>T p.Glu1295* Nonsense 16/16 - 3
5-112175176-AA-A c.3885del p.Ala1296Glnfs*9 Frameshift 16/16 - 1
5-112175179-A-AT c.3888_3889insT p.Asp1297* Nonsense 16/16 - 1
5-112175186-GC-CA c.3895_3896delinsCA p.Ala1299His Missense 16/16 - 1
5-112175187-C-T c.3896C>T p.Ala1299Val Missense 16/16 - 1
5-112175198-C-T c.3907C>T p.Gln1303* Nonsense 16/16 - 4
5-112175200-A-AC c.3909_3910insC p.Ile1304Hisfs*11 Frameshift 16/16 - 1
5-112175205-C-A c.3914C>A p.Ala1305Glu Missense 16/16 - 1
5-112175205-GC-G c.3914del p.Ala1305Glufs*3 Frameshift 16/16 - 1
5-112175207-G-T c.3916G>T p.Glu1306* Nonsense 16/16 - 12
5-112175210-A-C c.3919A>C p.Ile1307Leu Missense 16/16 - 1
5-112175210-A-T c.3919A>T p.Ile1307Leu Missense 16/16 - 1
5-112175211-T-A c.3920T>A p.Ile1307Lys Missense 16/16 - 127
5-112175212-TAAAA-T c.3921_3924del p.Ile1307Metfs*13 Frameshift 16/16 - 2
5-112175214-AAAGAAAA-A c.3923_3929del p.Lys1308Argfs*11 Frameshift 16/16 - 1
5-112175215-A-AA c.3924dup p.Glu1309Argfs*6 Frameshift 16/16 - 5
5-112175216-AGA-A c.3925_3926del p.Glu1309Lysfs*5 Frameshift 16/16 - 1
5-112175216-AGAAA-A c.3925_3928del p.Glu1309Argfs*11 Frameshift 16/16 - 1
5-112175216-G-T c.3925G>T p.Glu1309* Nonsense 16/16 - 7
5-112175217-A-G c.3926A>G p.Glu1309Gly Missense 16/16 - 1
5-112175218-A-C c.3927A>C p.Glu1309Asp Missense 16/16 - 1
5-112175218-AAAAGA-A c.3927_3931del p.Glu1309Aspfs*4 Frameshift 16/16 - 30
5-112175218-A-T c.3927A>T p.Glu1309Asp Missense 16/16 - 1
5-112175219-A-T c.3928A>T p.Lys1310* Nonsense 16/16 - 1
5-112175220-AA-A c.3929del p.Lys1310Argfs*11 Frameshift 16/16 - 1
5-112175221-G-A c.3930G>A p.Lys1310Lys Synonymous 16/16 - 1
5-112175225-G-T c.3934G>T p.Gly1312* Nonsense 16/16 - 2
5-112175226-GG-G c.3935del p.Gly1312Glufs*9 Frameshift 16/16 - 1
5-112175230-CT-C c.3939del p.Arg1314Glyfs*7 Frameshift 16/16 - 1
5-112175233-GG-G c.3942del p.Arg1314Serfs*7 Frameshift 16/16 - 1
5-112175235-C-A c.3944C>A p.Ser1315* Nonsense 16/16 - 1
5-112175240-TG-T c.3949del p.Glu1317Lysfs*4 Frameshift 16/16 - 1
5-112175240-G-C c.3949G>C p.Glu1317Gln Missense 16/16 - 54
5-112175240-G-A c.3949G>A p.Glu1317Lys Missense 16/16 - 1
5-112175240-G-T c.3949G>T p.Glu1317* Nonsense 16/16 - 2
5-112175241-A-G c.3950A>G p.Glu1317Gly Missense 16/16 - 1
5-112175247-CC-C c.3956del p.Pro1319Leufs*2 Frameshift 16/16 - 4
5-112175250-GTG-G c.3959_3960del p.Val1320Glufs*11 Frameshift 16/16 - 1
5-112175255-G-T c.3964G>T p.Glu1322* Nonsense 16/16 - 5
5-112175273-C-T c.3982C>T p.Gln1328* Nonsense 16/16 - 3
5-112175276-CAC-TAA c.3985_3987delinsTAA p.His1329* Nonsense 16/16 - 1
5-112175282-A-T c.3991A>T p.Arg1331* Nonsense 16/16 - 1
5-112175285-A-AA c.3994dup p.Thr1332Asnfs*10 Frameshift 16/16 - 2
5-112175298-G-C c.4007G>C p.Arg1336Thr Missense 16/16 - 1
5-112175303-C-T c.4012C>T p.Gln1338* Nonsense 16/16 - 22
5-112175307-GG-G c.4016del p.Gly1339Valfs*76 Frameshift 16/16 - 1
5-112175315-T-G c.4024T>G p.Leu1342Val Missense 16/16 - 1
5-112175322-C-G c.4031C>G p.Ser1344* Nonsense 16/16 - 3
5-112175322-C-A c.4031C>A p.Ser1344* Nonsense 16/16 - 3
5-112175324-G-T c.4033G>T p.Glu1345* Nonsense 16/16 - 2
5-112175328-C-G c.4037C>G p.Ser1346* Nonsense 16/16 - 1
5-112175330-G-A c.4039G>A p.Ala1347Thr Missense 16/16 - 1
5-112175333-A-T c.4042A>T p.Arg1348Trp Missense 16/16 - 1
5-112175337-A-G c.4046A>G p.His1349Arg Missense 16/16 - 1
5-112175342-G-A c.4051G>A p.Ala1351Thr Missense 16/16 - 1
5-112175345-G-A c.4054G>A p.Val1352Ile Missense 16/16 - 1
5-112175346-T-C c.4055T>C p.Val1352Ala Missense 16/16 - 3
5-112175348-G-T c.4057G>T p.Glu1353* Nonsense 16/16 - 4
5-112175353-T-G c.4062T>G p.Phe1354Leu Missense 16/16 - 1
5-112175353-T-A c.4062T>A p.Phe1354Leu Missense 16/16 - 1
5-112175351-T-C c.4060T>C p.Phe1354Leu Missense 16/16 - 1
5-112175355-TC-T c.4064del p.Ser1355Phefs*60 Frameshift 16/16 - 1
5-112175358-C-A c.4067C>A p.Ser1356* Nonsense 16/16 - 5
5-112175359-CA-C c.4068del p.Gly1357Glufs*58 Frameshift 16/16 - 1
5-112175363-G-A c.4072G>A p.Ala1358Thr Missense 16/16 - 2
5-112175364-C-T c.4073C>T p.Ala1358Val Missense 16/16 - 2
5-112175366-A-G c.4075A>G p.Lys1359Glu Missense 16/16 - 1
5-112175369-T-G c.4078T>G p.Ser1360Ala Missense 16/16 - 1
5-112175370-C-A c.4079C>A p.Ser1360Tyr Missense 16/16 - 1
5-112175372-C-T c.4081C>T p.Pro1361Ser Missense 16/16 - 1
5-112175373-CCC-C c.4082_4083del p.Pro1361Leufs*13 Frameshift 16/16 - 1
5-112175373-C-T c.4082C>T p.Pro1361Leu Missense 16/16 - 2
5-112175376-C-T c.4085C>T p.Ser1362Phe Missense 16/16 - 1
5-112175377-C-G c.4086C>G p.Ser1362Ser Synonymous 16/16 - 1
5-112175377-C-A c.4086C>A p.Ser1362Ser Synonymous 16/16 - 1
5-112175377-C-T c.4086C>T p.Ser1362Ser Synonymous 16/16 - 1
5-112175378-A-G c.4087A>G p.Lys1363Glu Missense 16/16 - 1
5-112175378-AA-GC c.4087_4088delinsGC p.Lys1363Ala Missense 16/16 - 1
5-112175388-C-T c.4097C>T p.Ala1366Val Missense 16/16 - 2
5-112175388-C-CC c.4097dup p.Gln1367Serfs*8 Frameshift 16/16 - 2
5-112175390-C-T c.4099C>T p.Gln1367* Nonsense 16/16 - 19
5-112175396-CC-GT c.4105_4106delinsGT p.Pro1369Val Missense 16/16 - 1
5-112175396-C-T c.4105C>T p.Pro1369Ser Missense 16/16 - 1
5-112175399-A-T c.4108A>T p.Lys1370* Nonsense 16/16 - 1
5-112175409-CC-C c.4118del p.Pro1373Leufs*42 Frameshift 16/16 - 1
5-112175410-T-TT c.4119dup p.Glu1374* Nonsense 16/16 - 1
5-112175411-G-T c.4120G>T p.Glu1374* Nonsense 16/16 - 3
5-112175411-G-A c.4120G>A p.Glu1374Lys Missense 16/16 - 1
5-112175413-AACA-A c.4122_4124del p.Glu1374_His1375delinsAsp MultiAAMissense 16/16 - 1
5-112175414-C-T c.4123C>T p.His1375Tyr Missense 16/16 - 1
5-112175419-T-A c.4128T>A p.Tyr1376* Nonsense 16/16 - 2
5-112175419-T-G c.4128T>G p.Tyr1376* Nonsense 16/16 - 2
5-112175423-C-T c.4132C>T p.Gln1378* Nonsense 16/16 - 12
5-112175423-TC-T c.4132del p.Gln1378Argfs*37 Frameshift 16/16 - 1
5-112175426-G-T c.4135G>T p.Glu1379* Nonsense 16/16 - 8
5-112175447-A-T c.4156A>T p.Arg1386* Nonsense 16/16 - 1
5-112175466-C-G c.4175C>G p.Ser1392* Nonsense 16/16 - 1
5-112175466-C-A c.4175C>A p.Ser1392* Nonsense 16/16 - 1
5-112175477-T-C c.4186T>C p.Phe1396Leu Missense 16/16 - 2
5-112175479-T-G c.4188T>G p.Phe1396Leu Missense 16/16 - 2
5-112175479-T-A c.4188T>A p.Phe1396Leu Missense 16/16 - 2
5-112175478-TTT-T c.4187_4188del p.Phe1396* Frameshift 16/16 - 1
5-112175480-G-A c.4189G>A p.Glu1397Lys Missense 16/16 - 1
5-112175480-G-T c.4189G>T p.Glu1397* Nonsense 16/16 - 6
5-112175483-GAG-G c.4192_4193del p.Arg1399Phefs*9 Frameshift 16/16 - 1
5-112175490-C-A c.4199C>A p.Ser1400* Nonsense 16/16 - 1
5-112175490-C-T c.4199C>T p.Ser1400Leu Missense 16/16 - 3
5-112175493-ATT-A c.4202_4203del p.Ile1401Serfs*7 Frameshift 16/16 - 2
5-112175500-GC-G c.4209del p.Ser1404Profs*11 Frameshift 16/16 - 1
5-112175507-C-T c.4216C>T p.Gln1406* Nonsense 16/16 - 4
5-112175510-GAG-G c.4219_4220del p.Ser1407* Frameshift 16/16 - 1
5-112175510-AGT-TGA c.4219_4221delinsTGA p.Ser1407* Nonsense 16/16 - 1
5-112175513-G-T c.4222G>T p.Glu1408* Nonsense 16/16 - 3
5-112175515-A-G c.4224A>G p.Glu1408Glu Synonymous 16/16 - 1
5-112175521-C-A c.4230C>A p.Cys1410* Nonsense 16/16 - 1
5-112175524-GT-G c.4233del p.Ser1411Argfs*4 Frameshift 16/16 - 2
5-112175526-G-A c.4235G>A p.Gly1412Glu Missense 16/16 - 1
5-112175528-A-G c.4237A>G p.Met1413Val Missense 16/16 - 2
5-112175531-GT-TA c.4240_4241delinsTA p.Val1414* Nonsense 16/16 - 1
5-112175539-GC-G c.4248del p.Ile1417Leufs*2 Frameshift 16/16 - 1
5-112175540-A-C c.4249A>C p.Ile1417Leu Missense 16/16 - 1
5-112175540-ATT-TAA c.4249_4251delinsTAA p.Ile1417* Nonsense 16/16 - 1
5-112175550-CCCAGTGATCTTCCA-C c.4259_4272del p.Pro1420Argfs*2 Frameshift 16/16 - 1
5-112175551-CCA-C c.4260_4261del p.Ser1421* Frameshift 16/16 - 1
5-112175553-AG-A c.4262del p.Ser1421Metfs*52 Frameshift 16/16 - 1
5-112175558-TCTTCCAGATAGCCC-T c.4267_4280del p.Leu1423Trpfs*10 Frameshift 16/16 - 1
5-112175559-CTTCC-C c.4268_4271del p.Leu1423Glnfs*49 Frameshift 16/16 - 1
5-112175574-GG-G c.4283del p.Gly1428Aspfs*45 Frameshift 16/16 - 1
5-112175576-C-T c.4285C>T p.Gln1429* Nonsense 16/16 - 12
5-112175576-AC-A c.4285del p.Gln1429Lysfs*44 Frameshift 16/16 - 2
5-112175581-CC-C c.4290del p.Met1431Cysfs*42 Frameshift 16/16 - 1
5-112175583-T-A c.4292T>A p.Met1431Lys Missense 16/16 - 1
5-112175589-C-T c.4298C>T p.Pro1433Leu Missense 16/16 - 6
5-112175592-G-A c.4301G>A p.Ser1434Asn Missense 16/16 - 1
5-112175594-A-AC c.4303_4304insC p.Arg1435Thrfs*3 Frameshift 16/16 - 1
5-112175596-A-AT c.4305_4306insT p.Ser1436* Nonsense 16/16 - 1
5-112175600-A-T c.4309A>T p.Lys1437* Nonsense 16/16 - 1
5-112175604-C-CCACCT c.4313_4314insCACCT p.Pro1439Thrfs*36 Frameshift 16/16 - 1
5-112175607-C-T c.4316C>T p.Pro1439Leu Missense 16/16 - 1
5-112175608-CT-C c.4317del p.Pro1440Hisfs*33 Frameshift 16/16 - 1
5-112175612-C-G c.4321C>G p.Pro1441Ala Missense 16/16 - 2
5-112175615-C-A c.4324C>A p.Pro1442Thr Missense 16/16 - 1
5-112175617-T-A c.4326T>A p.Pro1442Pro Synonymous 16/16 - 2
5-112175621-C-T c.4330C>T p.Gln1444* Nonsense 16/16 - 2
5-112175623-AAACA-A c.4332_4335del p.Thr1445Leufs*27 Frameshift 16/16 - 1
5-112175625-C-T c.4334C>T p.Thr1445Ile Missense 16/16 - 1
5-112175630-C-T c.4339C>T p.Gln1447* Nonsense 16/16 - 4
5-112175634-C-G c.4343C>G p.Thr1448Ser Missense 16/16 - 1
5-112175633-A-T c.4342A>T p.Thr1448Ser Missense 16/16 - 1
5-112175639-C-T c.4348C>T p.Arg1450* Nonsense 16/16 - 64
5-112175648-C-T c.4357C>T p.Pro1453Ser Missense 16/16 - 1
5-112175651-A-T c.4360A>T p.Lys1454* Nonsense 16/16 - 1
5-112175658-A-C c.4367A>C p.Lys1456Thr Missense 16/16 - 1
5-112175660-G-A c.4369G>A p.Ala1457Thr Missense 16/16 - 2
5-112175663-C-T c.4372C>T p.Pro1458Ser Missense 16/16 - 1
5-112175667-C-A c.4376C>A p.Thr1459Asn Missense 16/16 - 1
5-112175672-G-T c.4381G>T p.Glu1461* Nonsense 16/16 - 1
5-112175672-G-A c.4381G>A p.Glu1461Lys Missense 16/16 - 1
5-112175674-A-AT c.4383_4384insT p.Lys1462* Nonsense 16/16 - 2
5-112175674-A-G c.4383A>G p.Glu1461Glu Synonymous 16/16 - 1
5-112175676-A-G c.4385A>G p.Lys1462Arg Missense 16/16 - 2
5-112175677-G-A c.4386G>A p.Lys1462Lys Synonymous 16/16 - 1
5-112175678-A-C c.4387A>C p.Arg1463Arg Synonymous 16/16 - 1
5-112175680-A-G c.4389A>G p.Arg1463Arg Synonymous 16/16 - 1
5-112175682-A-T c.4391A>T p.Glu1464Val Missense 16/16 - 1
5-112175682-GAGAG-G c.4391_4394del p.Glu1464Valfs*8 Frameshift 16/16 - 7
5-112175683-G-GT c.4392_4393insT p.Ser1465* Nonsense 16/16 - 1
5-112175684-GAG-G c.4393_4394del p.Ser1465Trpfs*3 Frameshift 16/16 - 11
5-112175684-AGT-TGA c.4393_4395delinsTGA p.Ser1465* Nonsense 16/16 - 1
5-112175687-G-T c.4396G>T p.Gly1466* Nonsense 16/16 - 1
5-112175688-G-A c.4397G>A p.Gly1466Glu Missense 16/16 - 1
5-112175689-GA-G c.4398del p.Pro1467Leufs*6 Frameshift 16/16 - 1
5-112175696-C-T c.4405C>T p.Gln1469* Nonsense 16/16 - 1
5-112175711-G-A c.4420G>A p.Ala1474Thr Missense 16/16 - 1
5-112175715-C-T c.4424C>T p.Ala1475Val Missense 16/16 - 1
5-112175717-AG-A c.4426del p.Val1476Phefs*31 Frameshift 16/16 - 1
5-112175720-C-T c.4429C>T p.Gln1477* Nonsense 16/16 - 2
5-112175732-GT-AA c.4441_4442delinsAA p.Val1481Asn Missense 16/16 - 1
5-112175733-T-A c.4442T>A p.Val1481Asp Missense 16/16 - 1
5-112175739-CC-C c.4448del p.Pro1483Glnfs*24 Frameshift 16/16 - 1
5-112175753-T-G c.4462T>G p.Leu1488Val Missense 16/16 - 1
5-112175754-T-G c.4463T>G p.Leu1488* Nonsense 16/16 - 2
5-112175755-TATTACATT-T c.4464_4471del p.Leu1488Phefs*23 Frameshift 16/16 - 1
5-112175755-TATTA-T c.4464_4467del p.Leu1488Phefs*18 Frameshift 16/16 - 1
5-112175757-T-G c.4466T>G p.Leu1489* Nonsense 16/16 - 1
5-112175757-T-TT c.4466dup p.Leu1489Phefs*25 Frameshift 16/16 - 1
5-112175757-T-A c.4466T>A p.Leu1489* Nonsense 16/16 - 1
5-112175759-C-T c.4468C>T p.His1490Tyr Missense 16/16 - 1
5-112175760-A-T c.4469A>T p.His1490Leu Missense 16/16 - 1
5-112175763-T-A c.4472T>A p.Phe1491Tyr Missense 16/16 - 1
5-112175766-C-T c.4475C>T p.Ala1492Val Missense 16/16 - 1
5-112175768-ACG-TGT c.4477_4479delinsTGT p.Thr1493Cys Missense 16/16 - 1
5-112175769-AC-A c.4478del p.Thr1493Argfs*14 Frameshift 16/16 - 1
5-112175770-GG-AT c.4479_4480delinsAT p.Glu1494* Missense 16/16 - 1
5-112175770-G-T c.4479G>T p.Thr1493Thr Synonymous 16/16 - 21
5-112175770-G-C c.4479G>C p.Thr1493Thr Synonymous 16/16 - 21
5-112175770-G-A c.4479G>A p.Thr1493Thr Synonymous 16/16 - 33
5-112175775-G-T c.4484G>T p.Ser1495Ile Missense 16/16 - 1
5-112175786-G-T c.4495G>T p.Gly1499* Nonsense 16/16 - 2
5-112175787-G-T c.4496G>T p.Gly1499Val Missense 16/16 - 1
5-112175792-T-G c.4501T>G p.Ser1501Ala Missense 16/16 - 3
5-112175798-TC-GA c.4507_4508inv p.Ser1503Glu Missense 16/16 - 1
5-112175799-C-G c.4508C>G p.Ser1503* Nonsense 16/16 - 2
5-112175801-ATCCA-A c.4510_4513del p.Ser1504Alafs*2 Frameshift 16/16 - 1
5-112175820-AG-A c.4529del p.Ser1510Thrfs*13 Frameshift 16/16 - 1
5-112175825-G-A c.4534G>A p.Asp1512Asn Missense 16/16 - 2
5-112175830-G-A c.4539G>A p.Glu1513Glu Synonymous 16/16 - 1
5-112175831-C-T c.4540C>T p.Pro1514Ser Missense 16/16 - 1
5-112175840-C-T c.4549C>T p.Gln1517* Nonsense 16/16 - 1
5-112175848-T-A c.4557T>A p.Asp1519Glu Missense 16/16 - 1
5-112175855-TT-AC c.4564_4565delinsAC p.Leu1522Thr Missense 16/16 - 1
5-112175861-AA-A c.4570del p.Ile1524* Frameshift 16/16 - 1
5-112175868-C-T c.4577C>T p.Pro1526Leu Missense 16/16 - 2
5-112175876-C-T c.4585C>T p.Gln1529* Nonsense 16/16 - 1
5-112175888-A-C c.4597A>C p.Asn1533His Missense 16/16 - 1
5-112175897-G-T c.4606G>T p.Glu1536* Nonsense 16/16 - 3
5-112175899-AAACAGAA-A c.4608_4614del p.Glu1536Aspfs*27 Frameshift 16/16 - 1
5-112175903-AGA-A c.4612_4613del p.Glu1538Ilefs*5 Frameshift 16/16 - 5
5-112175903-G-T c.4612G>T p.Glu1538* Nonsense 16/16 - 1
5-112175905-A-AA c.4614dup p.Ser1539Ilefs*5 Frameshift 16/16 - 1
5-112175907-C-G c.4616C>G p.Ser1539* Nonsense 16/16 - 1
5-112175907-C-A c.4616C>A p.Ser1539* Nonsense 16/16 - 1
5-112175918-A-T c.4627A>T p.Lys1543* Nonsense 16/16 - 1
5-112175921-G-A c.4630G>A p.Glu1544Lys Missense 16/16 - 1
5-112175921-G-T c.4630G>T p.Glu1544* Nonsense 16/16 - 2
5-112175924-T-G c.4633T>G p.Ser1545Ala Missense 16/16 - 1
5-112175925-C-A c.4634C>A p.Ser1545* Nonsense 16/16 - 1
5-112175925-C-G c.4634C>G p.Ser1545* Nonsense 16/16 - 1
5-112175929-ATGAAA-A c.4638_4642del p.Asn1546Lysfs*11 Frameshift 16/16 - 1
5-112175938-A-G c.4647A>G p.Gln1549Gln Synonymous 16/16 - 1
5-112175946-A-T c.4655A>T p.Glu1552Val Missense 16/16 - 1
5-112175946-GAG-G c.4655_4656del p.Glu1552Glyfs*6 Frameshift 16/16 - 1
5-112175951-G-T c.4660G>T p.Glu1554* Nonsense 16/16 - 2
5-112175953-A-AT c.4662_4663insT p.Lys1555* Nonsense 16/16 - 1
5-112175953-A-G c.4662A>G p.Glu1554Glu Synonymous 16/16 - 1
5-112175957-A-AA c.4666dup p.Thr1556Asnfs*3 Frameshift 16/16 - 21
5-112175958-C-CA c.4667_4668insA p.Ile1557Tyrfs*2 Frameshift 16/16 - 1
5-112175960-TAT-T c.4669_4670del p.Ile1557* Frameshift 16/16 - 1
5-112175977-C-CA c.4686_4687insA p.Leu1563Thrfs*4 Frameshift 16/16 - 1
5-112175978-C-CC c.4687dup p.Leu1563Profs*4 Frameshift 16/16 - 2
5-112175982-T-G c.4691T>G p.Leu1564* Nonsense 16/16 - 1
5-112175982-T-A c.4691T>A p.Leu1564* Nonsense 16/16 - 1
5-112175994-A-C c.4703A>C p.Asp1568Ala Missense 16/16 - 1
5-112175999-G-A c.4708G>A p.Asp1570Asn Missense 16/16 - 1
5-112176000-A-C c.4709A>C p.Asp1570Ala Missense 16/16 - 1
5-112176002-TGATAT-T c.4711_4715del p.Asp1571* Frameshift 16/16 - 1
5-112176008-G-T c.4717G>T p.Glu1573* Nonsense 16/16 - 2
5-112176017-G-A c.4726G>A p.Glu1576Lys Missense 16/16 - 1
5-112176020-G-T c.4729G>T p.Glu1577* Nonsense 16/16 - 3
5-112176022-AA-A c.4731del p.Glu1577Aspfs*73 Frameshift 16/16 - 1
5-112176025-T-A c.4734T>A p.Cys1578* Nonsense 16/16 - 1
5-112176035-G-C c.4744G>C p.Ala1582Pro Missense 16/16 - 5
5-112176053-TCA-AAC c.4762_4764delinsAAC p.Ser1588Asn Missense 16/16 - 1
5-112176056-C-T c.4765C>T p.Arg1589Cys Missense 16/16 - 2
5-112176057-G-A c.4766G>A p.Arg1589His Missense 16/16 - 1
5-112176069-AA-A c.4778del p.Lys1593Serfs*57 Frameshift 16/16 - 1
5-112176073-CAGCC-C c.4782_4785del p.Ala1595Argfs*54 Frameshift 16/16 - 1
5-112176092-TT-CC c.4801_4802delinsCC p.Leu1601Pro Missense 16/16 - 4
5-112176117-CC-C c.4826del p.Pro1609Glnfs*41 Frameshift 16/16 - 1
5-112176173-AAA-A c.4882_4883del p.Lys1628Alafs*3 Frameshift 16/16 - 1
5-112176176-C-T c.4885C>T p.His1629Tyr Missense 16/16 - 1
5-112176192-C-T c.4901C>T p.Pro1634Leu Missense 16/16 - 1
5-112176193-G-A c.4902G>A p.Pro1634Pro Synonymous 16/16 - 1
5-112176196-G-A c.4905G>A p.Gly1635Gly Synonymous 16/16 - 1
5-112176209-C-T c.4918C>T p.Arg1640Trp Missense 16/16 - 2
5-112176230-A-G c.4939A>G p.Thr1647Ala Missense 16/16 - 1
5-112176293-G-A c.5002G>A p.Glu1668Lys Missense 16/16 - 1
5-112176300-C-T c.5009C>T p.Ala1670Val Missense 16/16 - 1
5-112176308-G-A c.5017G>A p.Glu1673Lys Missense 16/16 - 1
5-112176317-A-G c.5026A>G p.Arg1676Gly Missense 16/16 - 1
5-112176320-GG-AC c.5029_5030delinsAC p.Gly1677Thr Missense 16/16 - 1
5-112176322-A-AAA c.5031_5032insAA p.Gly1678Lysfs*32 Frameshift 16/16 - 1
5-112176324-G-C c.5033G>C p.Gly1678Ala Missense 16/16 - 1
5-112176325-G-A c.5034G>A p.Gly1678Gly Synonymous 16/16 - 22
5-112176325-G-T c.5034G>T p.Gly1678Gly Synonymous 16/16 - 9
5-112176325-G-C c.5034G>C p.Gly1678Gly Synonymous 16/16 - 9
5-112176335-G-T c.5044G>T p.Gly1682Cys Missense 16/16 - 1
5-112176372-G-C c.5081G>C p.Gly1694Ala Missense 16/16 - 1
5-112176407-T-A c.5116T>A p.Ser1706Thr Missense 16/16 - 1
5-112176408-C-T c.5117C>T p.Ser1706Leu Missense 16/16 - 1
5-112176431-G-A c.5140G>A p.Asp1714Asn Missense 16/16 - 2
5-112176444-C-T c.5153C>T p.Ala1718Val Missense 16/16 - 1
5-112176452-G-T c.5161G>T p.Gly1721Cys Missense 16/16 - 1
5-112176453-G-C c.5162G>C p.Gly1721Ala Missense 16/16 - 2
5-112176516-G-A c.5225G>A p.Arg1742His Missense 16/16 - 1
5-112176548-G-C c.5257G>C p.Ala1753Pro Missense 16/16 - 1
5-112176556-CGTCT-C c.5265_5268del p.Ser1756Leufs*9 Frameshift 16/16 - 1
5-112176559-T-G c.5268T>G p.Ser1756Ser Synonymous 16/16 - 13
5-112176559-T-A c.5268T>A p.Ser1756Ser Synonymous 16/16 - 12
5-112176559-T-C c.5268T>C p.Ser1756Ser Synonymous 16/16 - 8
5-112176570-C-A c.5279C>A p.Pro1760His Missense 16/16 - 1
5-112176648-G-C c.5357G>C p.Arg1786Thr Missense 16/16 - 2
5-112176648-G-A c.5357G>A p.Arg1786Lys Missense 16/16 - 1
5-112176656-G-C c.5365G>C p.Val1789Leu Missense 16/16 - 1
5-112176658-A-AT c.5367_5368insT p.Arg1790* Nonsense 16/16 - 1
5-112176660-G-A c.5369G>A p.Arg1790Lys Missense 16/16 - 1
5-112176669-C-G c.5378C>G p.Ala1793Gly Missense 16/16 - 1
5-112176702-T-A c.5411T>A p.Val1804Asp Missense 16/16 - 1
5-112176714-A-C c.5423A>C p.Asn1808Thr Missense 16/16 - 1
5-112176715-ACAA-A c.5424_5426del p.Asn1808del InFrameDeletion 16/16 - 1
5-112176723-C-T c.5432C>T p.Ser1811Leu Missense 16/16 - 1
5-112176736-T-A c.5445T>A p.Asn1815Lys Missense 16/16 - 1
5-112176736-T-G c.5445T>G p.Asn1815Lys Missense 16/16 - 1
5-112176747-A-AA c.5456dup p.Asn1819Lysfs*7 Frameshift 16/16 - 1
5-112176756-T-A c.5465T>A p.Val1822Asp Missense 16/16 - 56
5-112176756-T-G c.5465T>G p.Val1822Gly Missense 16/16 - 29
5-112176792-GTCAGAG-G c.5501_5506del p.Val1834_Arg1835del InFrameDeletion 16/16 - 1
5-112176794-A-G c.5503A>G p.Arg1835Gly Missense 16/16 - 2
5-112176797-G-C c.5506G>C p.Gly1836Arg Missense 16/16 - 1
5-112176797-G-A c.5506G>A p.Gly1836Arg Missense 16/16 - 1
5-112176810-T-G c.5519T>G p.Phe1840Cys Missense 16/16 - 1
5-112176864-G-A c.5573G>A p.Arg1858Gln Missense 16/16 - 2
5-112176873-C-A c.5582C>A p.Ser1861Tyr Missense 16/16 - 1
5-112176900-A-G c.5609A>G p.Asp1870Gly Missense 16/16 - 1
5-112176924-AA-A c.5633del p.Lys1878Argfs*4 Frameshift 16/16 - 1
5-112176941-G-T c.5650G>T p.Ala1884Ser Missense 16/16 - 1
5-112177019-A-T c.5728A>T p.Thr1910Ser Missense 16/16 - 1
5-112177037-C-T c.5746C>T p.Gln1916* Nonsense 16/16 - 1
5-112177048-T-A c.5757T>A p.Asn1919Lys Missense 16/16 - 1
5-112177048-T-G c.5757T>G p.Asn1919Lys Missense 16/16 - 1
5-112177049-C-T c.5758C>T p.Arg1920* Nonsense 16/16 - 1
5-112177085-A-G c.5794A>G p.Thr1932Ala Missense 16/16 - 1
5-112177117-ACAGA-A c.5826_5829del p.Asp1942Glufs*27 Frameshift 16/16 - 3
5-112177150-T-C c.5859T>C p.Asn1953Asn Synonymous 16/16 - 1
5-112177171-G-C c.5880G>C p.Pro1960Pro Synonymous 16/16 - 7
5-112177171-G-A c.5880G>A p.Pro1960Pro Synonymous 16/16 - 17
5-112177171-G-T c.5880G>T p.Pro1960Pro Synonymous 16/16 - 7
5-112177172-G-A c.5881G>A p.Val1961Ile Missense 16/16 - 1
5-112177209-G-A c.5918G>A p.Ser1973Asn Missense 16/16 - 1
5-112177209-G-C c.5918G>C p.Ser1973Thr Missense 16/16 - 1
5-112177223-G-T c.5932G>T p.Glu1978* Nonsense 16/16 - 1
5-112177227-AACAA-A c.5936_5939del p.Asn1979Thrfs*64 Frameshift 16/16 - 1
5-112177238-AGAAA-A c.5947_5950del p.Glu1983Metfs*60 Frameshift 16/16 - 1
5-112177239-A-G c.5948A>G p.Glu1983Gly Missense 16/16 - 2
5-112177322-T-G c.6031T>G p.Ser2011Ala Missense 16/16 - 2
5-112177344-CC-C c.6053del p.Pro2018Glnfs*26 Frameshift 16/16 - 1
5-112177387-TTGACTCT-T c.6096_6102del p.Ile2032Metfs*10 Frameshift 16/16 - 1
5-112177415-T-C c.6124T>C p.Cys2042Arg Missense 16/16 - 1
5-112177461-A-G c.6170A>G p.Lys2057Arg Missense 16/16 - 2
5-112177502-A-G c.6211A>G p.Ile2071Val Missense 16/16 - 1
5-112177565-CT-TA c.6274_6275delinsTA p.Leu2092* Nonsense 16/16 - 1
5-112177572-CC-C c.6281del p.Pro2094Leufs*18 Frameshift 16/16 - 1
5-112177769-ACA-TGT c.6478_6480inv p.Thr2160Cys Missense 16/16 - 1
5-112177787-C-T c.6496C>T p.Arg2166* Nonsense 16/16 - 3
5-112177838-T-G c.6547T>G p.Ser2183Ala Missense 16/16 - 6
5-112177871-AG-A c.6580del p.Val2194Phefs*5 Frameshift 16/16 - 1
5-112177901-C-T c.6610C>T p.Arg2204* Nonsense 16/16 - 3
5-112177928-A-G c.6637A>G p.Met2213Val Missense 16/16 - 1
5-112177937-C-A c.6646C>A p.Pro2216Thr Missense 16/16 - 1
5-112177953-T-C c.6662T>C p.Met2221Thr Missense 16/16 - 2
5-112177971-G-T c.6680G>T p.Gly2227Val Missense 16/16 - 1
5-112178000-C-T c.6709C>T p.Arg2237* Nonsense 16/16 - 1
5-112178001-G-A c.6710G>A p.Arg2237Gln Missense 16/16 - 1
5-112178024-C-T c.6733C>T p.Pro2245Ser Missense 16/16 - 1
5-112178034-A-G c.6743A>G p.Lys2248Arg Missense 16/16 - 1
5-112178112-C-T c.6821C>T p.Ala2274Val Missense 16/16 - 1
5-112178211-C-T c.6920C>T p.Ser2307Leu Missense 16/16 - 1
5-112178256-A-G c.6965A>G p.Gln2322Arg Missense 16/16 - 2
5-112178267-C-G c.6976C>G p.Arg2326Gly Missense 16/16 - 1
5-112178326-T-C c.7035T>C p.Leu2345Leu Synonymous 16/16 - 1
5-112178326-T-G c.7035T>G p.Leu2345Leu Synonymous 16/16 - 1
5-112178326-T-A c.7035T>A p.Leu2345Leu Synonymous 16/16 - 1
5-112178346-G-T c.7055G>T p.Ser2352Ile Missense 16/16 - 1
5-112178454-C-T c.7163C>T p.Ala2388Val Missense 16/16 - 1
5-112178492-C-T c.7201C>T p.Leu2401Leu Synonymous 16/16 - 1
5-112178678-G-A c.7387G>A p.Glu2463Lys Missense 16/16 - 1
5-112178680-A-G c.7389A>G p.Glu2463Glu Synonymous 16/16 - 1
5-112178680-A-C c.7389A>C p.Glu2463Asp Missense 16/16 - 1
5-112178688-C-T c.7397C>T p.Ser2466Phe Missense 16/16 - 1
5-112178690-C-A c.7399C>A p.Pro2467Thr Missense 16/16 - 2
5-112178693-T-C c.7402T>C p.Ser2468Pro Missense 16/16 - 1
5-112178697-C-T c.7406C>T p.Ser2469Phe Missense 16/16 - 1
5-112178795-G-A c.7504G>A p.Gly2502Ser Missense 16/16 - 13
5-112178805-G-A c.7514G>A p.Arg2505Gln Missense 16/16 - 4
5-112178832-C-T c.7541C>T p.Thr2514Ile Missense 16/16 - 1
5-112178871-A-C c.7580A>C p.Asp2527Ala Missense 16/16 - 1
5-112178879-CG-GC c.7588_7589delinsGC p.Arg2530Ala Missense 16/16 - 1
5-112178880-G-A c.7589G>A p.Arg2530Gln Missense 16/16 - 1
5-112178885-C-T c.7594C>T p.His2532Tyr Missense 16/16 - 1
5-112178885-CA-GC c.7594_7595delinsGC p.His2532Ala Missense 16/16 - 1
5-112178889-C-T c.7598C>T p.Ser2533Phe Missense 16/16 - 1
5-112178894-A-G c.7603A>G p.Ser2535Gly Missense 16/16 - 1
5-112178906-CT-GC c.7615_7616delinsGC p.Leu2539Ala Missense 16/16 - 1
5-112178912-AT-GC c.7621_7622delinsGC p.Ile2541Ala Missense 16/16 - 1
5-112178925-G-C c.7634G>C p.Gly2545Ala Missense 16/16 - 2
5-112178936-C-T c.7645C>T p.Arg2549Cys Missense 16/16 - 1
5-112178967-C-T c.7676C>T p.Pro2559Leu Missense 16/16 - 1
5-112179000-C-G c.7709C>G p.Ser2570* Nonsense 16/16 - 1
5-112179000-C-CC c.7709dup p.Ser2571Ilefs*12 Frameshift 16/16 - 1
5-112179040-AA-A c.7749del p.Ala2584Glnfs*9 Frameshift 16/16 - 1
5-112179042-C-G c.7751C>G p.Ala2584Gly Missense 16/16 - 1
5-112179072-C-G c.7781C>G p.Ser2594Cys Missense 16/16 - 1
5-112179077-T-G c.7786T>G p.Ser2596Ala Missense 16/16 - 1
5-112179126-G-A c.7835G>A p.Trp2612* Nonsense 16/16 - 1
5-112179127-G-A c.7836G>A p.Trp2612* Nonsense 16/16 - 1
5-112179128-A-T c.7837A>T p.Arg2613* Nonsense 16/16 - 1
5-112179149-T-A c.7858T>A p.Phe2620Ile Missense 16/16 - 1
5-112179153-C-G c.7862C>G p.Ser2621Cys Missense 16/16 - 6
5-112179179-G-A c.7888G>A p.Val2630Ile Missense 16/16 - 2
5-112179218-TCT-T c.7927_7928del p.Leu2643Asnfs*10 Frameshift 16/16 - 1
5-112179223-TTTAT-T c.7932_7935del p.Tyr2645Lysfs*14 Frameshift 16/16 - 1
5-112179227-C-G c.7936C>G p.Gln2646Glu Missense 16/16 - 1
5-112179240-C-T c.7949C>T p.Ala2650Val Missense 16/16 - 1
5-112179240-C-G c.7949C>G p.Ala2650Gly Missense 16/16 - 1
5-112179279-A-T c.7988A>T p.Asp2663Val Missense 16/16 - 1
5-112179320-GG-AC c.8029_8030delinsAC p.Gly2677Thr Missense 16/16 - 6
5-112179321-G-C c.8030G>C p.Gly2677Ala Missense 16/16 - 1
5-112179368-A-G c.8077A>G p.Asn2693Asp Missense 16/16 - 1
5-112179431-C-T c.8140C>T p.Arg2714Cys Missense 16/16 - 1
5-112179432-G-T c.8141G>T p.Arg2714Leu Missense 16/16 - 1
5-112179452-C-T c.8161C>T p.Arg2721Cys Missense 16/16 - 1
5-112179473-GTG-ATC c.8182_8184delinsATC p.Val2728Ile Missense 16/16 - 1
5-112179486-A-T c.8195A>T p.Asp2732Val Missense 16/16 - 1
5-112179605-T-C c.8314T>C p.Ser2772Pro Missense 16/16 - 1
5-112179623-G-T c.8332G>T p.Ala2778Ser Missense 16/16 - 2
5-112179678-A-G c.8387A>G p.Asp2796Gly Missense 16/16 - 1
5-112179738-G-A c.8447G>A p.Arg2816Gln Missense 16/16 - 1
5-112179753-A-G c.8462A>G p.Asp2821Gly Missense 16/16 - 1
5-112179792-A-C c.8501A>C p.His2834Pro Missense 16/16 - 1
5-112179909-C-A c.*86C>A - 3-UTRSNV 16/16 - 2
5-112179965-C-T c.*142C>T - 3-UTRSNV 16/16 - 2
5-112180921-T-C c.*1098T>C - 3-UTRSNV 16/16 - 6
5-112181283-C-T c.*1460C>T - 3-UTRSNV 16/16 - 1
5-112181379-C-G c.*1556C>G - 3-UTRSNV 16/16 - 4
5-112181379-C-A c.*1556C>A - 3-UTRSNV 16/16 - 4
5-112181576-G-A c.*1753G>A - 3-UTRSNV 16/16 - 5