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 |