MLH1 mutL homolog 1

Canonical transcript: NM_000249

878 unique variant annotations were identified in 610 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
3-37034946-G-A c.-93G>A - 5-UTRSNV 1/19 - 77
3-37035011-A-G c.-28A>G - 5-UTRSNV 1/19 - 1
3-37035011-A-C c.-28A>C - 5-UTRSNV 1/19 - 1
3-37035011-A-T c.-28A>T - 5-UTRSNV 1/19 - 1
3-37035012-C-A c.-27C>A - 5-UTRSNV 1/19 - 10
3-37035028-C-T c.-11C>T - 5-UTRSNV 1/19 - 2
3-37035032-C-A c.-7C>A - 5-UTRSNV 1/19 - 1
3-37035032-C-T c.-7C>T - 5-UTRSNV 1/19 - 1
3-37035039-A-G c.1A>G p.Met1? Missense 1/19 - 4
3-37035040-T-C c.2T>C p.Met1? Missense 1/19 - 1
3-37035040-T-G c.2T>G p.Met1? Missense 1/19 - 2
3-37035040-T-A c.2T>A p.Met1? Missense 1/19 - 2
3-37035041-G-T c.3G>T p.Met1? Missense 1/19 - 1
3-37035041-G-A c.3G>A p.Met1? Missense 1/19 - 1
3-37035042-GTCGTTCGTGGCAGGGGTTATTCGGCGGCTGGACGAGACAGTGGTGAACCGCATCGCGGC-G c.4_62del p.Ser2Glyfs*9 InFrameDeletion 1/19 - 1
3-37035053-CAGGGGTTATTCGGC-C c.15_28del p.Gly6Alafs*20 Frameshift 1/19 - 1
3-37035056-GGGTTATTCGGCGGCTGG-G c.18_34del p.Val7Argfs*18 Frameshift 1/19 - 1
3-37035061-T-C c.23T>C p.Ile8Thr Missense 1/19 - 1
3-37035063-C-T c.25C>T p.Arg9Trp Missense 1/19 - 1
3-37035065-G-A c.27G>A p.Arg9Arg Synonymous 1/19 - 1
3-37035069-C-A c.31C>A p.Leu11Met Missense 1/19 - 1
3-37035069-CT-TA c.31_32delinsTA p.Leu11* Nonsense 1/19 - 1
3-37035072-G-GG c.34dup p.Asp12Glyfs*19 Frameshift 1/19 - 1
3-37035072-G-T c.34G>T p.Asp12Tyr Missense 1/19 - 1
3-37035073-A-C c.35A>C p.Asp12Ala Missense 1/19 - 1
3-37035075-G-A c.37G>A p.Glu13Lys Missense 1/19 - 1
3-37035075-G-T c.37G>T p.Glu13* Nonsense 1/19 - 1
3-37035075-GAG-AAC c.37_39delinsAAC p.Glu13Asn Missense 1/19 - 1
3-37035078-ACA-GAC c.40_42delinsGAC p.Thr14Asp Missense 1/19 - 1
3-37035079-C-T c.41C>T p.Thr14Ile Missense 1/19 - 2
3-37035084-G-C c.46G>C p.Val16Leu Missense 1/19 - 2
3-37035085-T-G c.47T>G p.Val16Gly Missense 1/19 - 1
3-37035090-C-T c.52C>T p.Arg18Cys Missense 1/19 - 1
3-37035090-CGC-AAG c.52_54delinsAAG p.Arg18Lys Missense 1/19 - 1
3-37035093-A-T c.55A>T p.Ile19Phe Missense 1/19 - 3
3-37035095-C-G c.57C>G p.Ile19Met Missense 1/19 - 2
3-37035097-CG-AC c.59_60delinsAC p.Ala20Asp Missense 1/19 - 1
3-37035100-C-T c.62C>T p.Ala21Val Missense 1/19 - 1
3-37035100-C-A c.62C>A p.Ala21Glu Missense 1/19 - 1
3-37035103-G-C c.65G>C p.Gly22Ala Missense 1/19 - 8
3-37035104-G-GT c.66_67insT p.Glu23* Nonsense 1/19 - 1
3-37035105-G-A c.67G>A p.Glu23Lys Missense 1/19 - 2
3-37035105-GG-G c.67del p.Glu23Lysfs*13 Frameshift 1/19 - 2
3-37035107-A-T c.69A>T p.Glu23Asp Missense 1/19 - 1
3-37035107-A-C c.69A>C p.Glu23Asp Missense 1/19 - 1
3-37035111-A-T c.73A>T p.Ile25Phe Missense 1/19 - 1
3-37035112-T-C c.74T>C p.Ile25Thr Missense 1/19 - 2
3-37035114-C-T c.76C>T p.Gln26* Nonsense 1/19 - 1
3-37035117-CG-GC c.79_80delinsGC p.Arg27Ala Missense 1/19 - 1
3-37035118-GG-AT c.80_81delinsAT p.Arg27His Missense 1/19 - 1
3-37035118-G-C c.80G>C p.Arg27Pro Missense 1/19 - 1
3-37035118-G-A c.80G>A p.Arg27Gln Missense 1/19 - 1
3-37035121-C-T c.83C>T p.Pro28Leu Missense 1/19 - 8
3-37035123-G-T c.85G>T p.Ala29Ser Missense 1/19 - 10
3-37035125-CTAATGCT-C c.87_93del p.Asn30Serfs*4 Frameshift 1/19 - 1
3-37035129-GC-TG c.91_92delinsTG p.Ala31Cys Missense 1/19 - 1
3-37035130-CT-AG c.92_93inv p.Ala31Glu Missense 1/19 - 1
3-37035132-A-G c.94A>G p.Ile32Val Missense 1/19 - 1
3-37035133-T-A c.95T>A p.Ile32Asn Missense 1/19 - 1
3-37035134-C-CT c.96_97insT p.Lys33* Nonsense 1/19 - 1
3-37035135-A-G c.97A>G p.Lys33Glu Missense 1/19 - 1
3-37035136-A-G c.98A>G p.Lys33Arg Missense 1/19 - 1
3-37035138-G-T c.100G>T p.Glu34* Nonsense 1/19 - 1
3-37035139-A-T c.101A>T p.Glu34Val Missense 1/19 - 1
3-37035139-A-C c.101A>C p.Glu34Ala Missense 1/19 - 4
3-37035142-T-G c.104T>G p.Met35Arg Missense 1/19 - 2
3-37035143-TGAT-T c.105_107del p.Met35del InFrameDeletion 1/19 - 2
3-37035145-T-A c.107T>A p.Ile36Asn Missense 1/19 - 2
3-37035145-T-C c.107T>C p.Ile36Thr Missense 1/19 - 1
3-37035145-T-G c.107T>G p.Ile36Ser Missense 1/19 - 1
3-37035147-G-A c.109G>A p.Glu37Lys Missense 1/19 - 3
3-37035148-A-G c.110A>G p.Glu37Gly Missense 1/19 - 1
3-37035150-A-G c.112A>G p.Asn38Asp Missense 1/19 - 4
3-37035150-A-C c.112A>C p.Asn38His Missense 1/19 - 4
3-37035150-AA-GC c.112_113delinsGC p.Asn38Ala Missense 1/19 - 1
3-37035151-A-G c.113A>G p.Asn38Ser Missense 1/19 - 7
3-37035152-C-G c.114C>G p.Asn38Lys Missense 1/19 - 1
3-37035153-TG-GC c.115_116delinsGC p.Cys39Ala Missense 1/19 - 1
3-37035154-G-A c.116G>A p.Cys39Tyr Missense 1/19 - 3
3-37035159-G-C c.116+5G>C - IntronicSNV - 1/18 6
3-37035834-A-G c.116+680A>G - IntronicSNV - 1/18 2
3-37035834-A-T c.116+680A>T - IntronicSNV - 1/18 2
3-37035884-C-T c.116+730C>T - IntronicSNV - 1/18 1
3-37038076-A-T c.117-34A>T - IntronicSNV - 1/18 1
3-37038108-A-G c.117-2A>G - IntronicSNV - 1/18 3
3-37038108-A-T c.117-2A>T - IntronicSNV - 1/18 1
3-37038110-GTTTAG-G c.117_121del p.Cys39* SpliceAcceptorDeletion 2/19 - 1
3-37038112-TT-T c.119del p.Leu40* Frameshift 2/19 - 1
3-37038114-G-A c.121G>A p.Asp41Asn Missense 2/19 - 1
3-37038115-A-G c.122A>G p.Asp41Gly Missense 2/19 - 5
3-37038115-A-C c.122A>C p.Asp41Ala Missense 2/19 - 1
3-37038115-A-T c.122A>T p.Asp41Val Missense 2/19 - 1
3-37038118-C-T c.125C>T p.Ala42Val Missense 2/19 - 2
3-37038123-T-G c.130T>G p.Ser44Ala Missense 2/19 - 2
3-37038123-T-C c.130T>C p.Ser44Pro Missense 2/19 - 2
3-37038123-TC-CT c.130_131delinsCT p.Ser44Leu Missense 2/19 - 2
3-37038124-C-T c.131C>T p.Ser44Phe Missense 2/19 - 6
3-37038130-G-T c.137G>T p.Ser46Ile Missense 2/19 - 3
3-37038130-G-A c.137G>A p.Ser46Asn Missense 2/19 - 1
3-37038136-A-C c.143A>C p.Gln48Pro Missense 2/19 - 1
3-37038139-T-A c.146T>A p.Val49Glu Missense 2/19 - 2
3-37038147-AAA-TGT c.154_156delinsTGT p.Lys52Cys Missense 2/19 - 1
3-37038148-AAAGA-A c.155_158del p.Lys52Argfs*4 Frameshift 2/19 - 1
3-37038148-A-G c.155A>G p.Lys52Arg Missense 2/19 - 2
3-37038151-A-C c.158A>C p.Glu53Ala Missense 2/19 - 1
3-37038152-G-C c.159G>C p.Glu53Asp Missense 2/19 - 1
3-37038152-G-T c.159G>T p.Glu53Asp Missense 2/19 - 1
3-37038154-G-A c.161G>A p.Gly54Glu Missense 2/19 - 1
3-37038164-AG-A c.171del p.Lys57Asnfs*2 Frameshift 2/19 - 1
3-37038168-A-AA c.175dup p.Ile59Asnfs*20 Frameshift 2/19 - 1
3-37038169-T-A c.176T>A p.Ile59Asn Missense 2/19 - 1
3-37038171-C-T c.178C>T p.Gln60* Nonsense 2/19 - 2
3-37038177-C-A c.184C>A p.Gln62Lys Missense 2/19 - 3
3-37038177-C-T c.184C>T p.Gln62* Nonsense 2/19 - 4
3-37038179-A-C c.186A>C p.Gln62His Missense 2/19 - 1
3-37038180-G-A c.187G>A p.Asp63Asn Missense 2/19 - 2
3-37038180-G-C c.187G>C p.Asp63His Missense 2/19 - 1
3-37038182-C-A c.189C>A p.Asp63Glu Missense 2/19 - 1
3-37038182-C-G c.189C>G p.Asp63Glu Missense 2/19 - 1
3-37038184-A-G c.191A>G p.Asn64Ser Missense 2/19 - 6
3-37038187-G-A c.194G>A p.Gly65Asp Missense 2/19 - 4
3-37038190-ACCGGGATCAGGGTAAGTAAAACCTCAAAGTA-A c.197_207+20del - SpliceDonorDeletion 2/19 2/18 1
3-37038191-C-T c.198C>T p.Thr66Thr Synonymous 2/19 - 2
3-37038192-G-T c.199G>T p.Gly67Trp Missense 2/19 - 7
3-37038192-G-A c.199G>A p.Gly67Arg Missense 2/19 - 40
3-37038192-GGG-AGC c.199_201delinsAGC p.Gly67Ser Missense 2/19 - 2
3-37038193-G-A c.200G>A p.Gly67Glu Missense 2/19 - 8
3-37038196-T-A c.203T>A p.Ile68Asn Missense 2/19 - 5
3-37038197-C-G c.204C>G p.Ile68Met Missense 2/19 - 3
3-37038198-A-G c.205A>G p.Arg69Gly Missense 2/19 - 1
3-37038199-G-A c.206G>A p.Arg69Lys Missense 2/19 - 1
3-37038201-GG-G c.207+1del - IntronicDeletion - 2/18 1
3-37041320-C-A c.208-1126C>A - IntronicSNV - 2/18 1
3-37041320-C-G c.208-1126C>G - IntronicSNV - 2/18 1
3-37042443-C-G c.208-3C>G - IntronicSNV - 2/18 2
3-37042444-A-G c.208-2A>G - IntronicSNV - 2/18 1
3-37042445-G-A c.208-1G>A - IntronicSNV - 2/18 3
3-37042448-A-C c.210A>C p.Lys70Asn Missense 3/19 - 1
3-37042448-AAGAA-A c.210_213del p.Glu71Ilefs*20 Frameshift 3/19 - 4
3-37042449-G-T c.211G>T p.Glu71* Nonsense 3/19 - 1
3-37042451-AAGA-A c.213_215del p.Glu71del InFrameDeletion 3/19 - 5
3-37042452-G-C c.214G>C p.Asp72His Missense 3/19 - 1
3-37042452-G-T c.214G>T p.Asp72Tyr Missense 3/19 - 1
3-37042454-T-C c.216T>C p.Asp72Asp Synonymous 3/19 - 1
3-37042456-T-G c.218T>G p.Leu73Arg Missense 3/19 - 1
3-37042456-T-C c.218T>C p.Leu73Pro Missense 3/19 - 1
3-37042458-GA-TG c.220_221delinsTG p.Asp74Cys Missense 3/19 - 1
3-37042463-TT-T c.225del p.Ile75Metfs*17 Frameshift 3/19 - 1
3-37042464-G-A c.226G>A p.Val76Ile Missense 3/19 - 1
3-37042467-T-C c.229T>C p.Cys77Arg Missense 3/19 - 5
3-37042467-TG-AC c.229_230delinsAC p.Cys77Thr Missense 3/19 - 1
3-37042468-G-A c.230G>A p.Cys77Tyr Missense 3/19 - 6
3-37042476-T-G c.238T>G p.Phe80Val Missense 3/19 - 2
3-37042480-C-T c.242C>T p.Thr81Ile Missense 3/19 - 1
3-37042482-A-G c.244A>G p.Thr82Ala Missense 3/19 - 3
3-37042483-C-T c.245C>T p.Thr82Ile Missense 3/19 - 4
3-37042488-A-T c.250A>T p.Lys84* Nonsense 3/19 - 1
3-37042488-A-G c.250A>G p.Lys84Glu Missense 3/19 - 8
3-37042494-C-T c.256C>T p.Gln86* Nonsense 3/19 - 1
3-37042498-C-G c.260C>G p.Ser87Cys Missense 3/19 - 1
3-37042501-TTT-T c.263_264del p.Phe88* Frameshift 3/19 - 1
3-37042503-G-T c.265G>T p.Glu89* Nonsense 3/19 - 1
3-37042503-G-C c.265G>C p.Glu89Gln Missense 3/19 - 2
3-37042506-GA-TG c.268_269delinsTG p.Asp90Cys Missense 3/19 - 1
3-37042513-C-A c.275C>A p.Ala92Asp Missense 3/19 - 1
3-37042513-GCCAG-G c.275_278del p.Ala92Valfs*15 Frameshift 3/19 - 1
3-37042515-A-G c.277A>G p.Ser93Gly Missense 3/19 - 8
3-37042516-AG-A c.278del p.Ser93Ilefs*15 Frameshift 3/19 - 1
3-37042521-T-G c.283T>G p.Ser95Ala Missense 3/19 - 1
3-37042522-TC-T c.284del p.Ser95Leufs*13 Frameshift 3/19 - 1
3-37042527-T-G c.289T>G p.Tyr97Asp Missense 3/19 - 2
3-37042528-A-G c.290A>G p.Tyr97Cys Missense 3/19 - 1
3-37042530-G-A c.292G>A p.Gly98Ser Missense 3/19 - 2
3-37042531-G-A c.293G>A p.Gly98Asp Missense 3/19 - 2
3-37042531-G-C c.293G>C p.Gly98Ala Missense 3/19 - 3
3-37042531-G-T c.293G>T p.Gly98Val Missense 3/19 - 1
3-37042533-T-C c.295T>C p.Phe99Leu Missense 3/19 - 2
3-37042535-T-G c.297T>G p.Phe99Leu Missense 3/19 - 2
3-37042535-T-A c.297T>A p.Phe99Leu Missense 3/19 - 2
3-37042536-C-T c.298C>T p.Arg100* Nonsense 3/19 - 9
3-37042537-G-C c.299G>C p.Arg100Pro Missense 3/19 - 4
3-37042537-G-A c.299G>A p.Arg100Gln Missense 3/19 - 7
3-37042539-G-A c.301G>A p.Gly101Ser Missense 3/19 - 1
3-37042541-T-G c.303T>G p.Gly101Gly Synonymous 3/19 - 1
3-37042542-G-A c.304G>A p.Glu102Lys Missense 3/19 - 3
3-37042543-A-C c.305A>C p.Glu102Ala Missense 3/19 - 1
3-37042544-G-A c.306G>A p.Glu102Glu Synonymous 3/19 - 1
3-37042544-G-T c.306G>T p.Glu102Asp Missense 3/19 - 2
3-37042545-G-A c.306+1G>A - IntronicSNV - 3/18 2
3-37042548-A-G c.306+4A>G - IntronicSNV - 3/18 1
3-37043230-G-A c.306+686G>A - IntronicSNV - 3/18 1
3-37043256-G-A c.306+712G>A - IntronicSNV - 3/18 1
3-37044489-A-T c.307-1403A>T - IntronicSNV - 3/18 8
3-37045863-C-A c.307-29C>A - IntronicSNV - 3/18 3
3-37045873-A-G c.307-19A>G - IntronicSNV - 3/18 1
3-37045892-G-C c.307G>C p.Ala103Pro Missense 4/19 - 1
3-37045894-CTTTGGCCAGC-C c.309_318del p.Leu104* Frameshift 4/19 - 1
3-37045896-TT-T c.311del p.Leu104Trpfs*4 Frameshift 4/19 - 1
3-37045903-C-G c.318C>G p.Ser106Arg Missense 4/19 - 1
3-37045905-ATA-A c.320_321del p.Ile107Lysfs*14 Frameshift 4/19 - 1
3-37045905-T-G c.320T>G p.Ile107Arg Missense 4/19 - 6
3-37045909-C-G c.324C>G p.Ser108Arg Missense 4/19 - 1
3-37045912-T-G c.327T>G p.His109Gln Missense 4/19 - 1
3-37045916-G-C c.331G>C p.Ala111Pro Missense 4/19 - 1
3-37045917-C-A c.332C>A p.Ala111Asp Missense 4/19 - 1
3-37045917-C-T c.332C>T p.Ala111Val Missense 4/19 - 6
3-37045918-CTC-C c.333_334del p.His112Cysfs*9 Frameshift 4/19 - 2
3-37045919-CA-GC c.334_335delinsGC p.His112Ala Missense 4/19 - 1
3-37045919-C-G c.334C>G p.His112Asp Missense 4/19 - 2
3-37045921-T-A c.336T>A p.His112Gln Missense 4/19 - 2
3-37045921-T-G c.336T>G p.His112Gln Missense 4/19 - 2
3-37045926-CT-TG c.341_342delinsTG p.Thr114Met Missense 4/19 - 1
3-37045930-T-TTA c.345_346insTA p.Thr116* Nonsense 4/19 - 1
3-37045931-TA-T c.346del p.Thr116Glnfs*20 Frameshift 4/19 - 1
3-37045931-A-AA c.346dup p.Thr116Asnfs*6 Frameshift 4/19 - 1
3-37045931-A-G c.346A>G p.Thr116Ala Missense 4/19 - 1
3-37045932-C-A c.347C>A p.Thr116Lys Missense 4/19 - 2
3-37045932-C-G c.347C>G p.Thr116Arg Missense 4/19 - 1
3-37045933-A-C c.348A>C p.Thr116Thr Synonymous 4/19 - 1
3-37045933-A-T c.348A>T p.Thr116Thr Synonymous 4/19 - 1
3-37045933-A-G c.348A>G p.Thr116Thr Synonymous 4/19 - 1
3-37045935-C-G c.350C>G p.Thr117Arg Missense 4/19 - 5
3-37045935-C-T c.350C>T p.Thr117Met Missense 4/19 - 37
3-37045937-A-G c.352A>G p.Lys118Glu Missense 4/19 - 1
3-37045949-GGA-AGC c.364_366delinsAGC p.Gly122Ser Missense 4/19 - 2
3-37045953-A-G c.368A>G p.Lys123Arg Missense 4/19 - 1
3-37045959-C-A c.374C>A p.Ala125Glu Missense 4/19 - 3
3-37045961-TA-GC c.376_377delinsGC p.Tyr126Ala Missense 4/19 - 1
3-37045961-T-A c.376T>A p.Tyr126Asn Missense 4/19 - 2
3-37045964-AG-GA c.379_380delinsGA p.Arg127Glu Missense 4/19 - 1
3-37045965-G-A c.380G>A p.Arg127Lys Missense 4/19 - 1
3-37045966-G-A c.380+1G>A - IntronicSNV - 4/18 1
3-37048481-G-A c.381-1G>A - IntronicSNV - 4/18 1
3-37048482-A-ATG c.381_382insTG p.Ala128Trpfs*9 SpliceAcceptorInsertion 5/19 - 1
3-37048483-G-C c.382G>C p.Ala128Pro Missense 5/19 - 4
3-37048483-AG-A c.382del p.Ala128Glnfs*8 Frameshift 5/19 - 1
3-37048484-GCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGGG-G c.383_441del p.Ala128Aspfs*24 SpliceAcceptorDeletion 5/19 - 1
3-37048489-TA-GC c.388_389delinsGC p.Tyr130Ala Missense 5/19 - 1
3-37048489-T-C c.388T>C p.Tyr130His Missense 5/19 - 1
3-37048490-A-T c.389A>T p.Tyr130Phe Missense 5/19 - 1
3-37048490-A-G c.389A>G p.Tyr130Cys Missense 5/19 - 1
3-37048493-C-A c.392C>A p.Ser131* Nonsense 5/19 - 1
3-37048493-C-G c.392C>G p.Ser131* Nonsense 5/19 - 2
3-37048495-G-C c.394G>C p.Asp132His Missense 5/19 - 14
3-37048502-A-G c.401A>G p.Lys134Arg Missense 5/19 - 1
3-37048503-A-T c.402A>T p.Lys134Asn Missense 5/19 - 1
3-37048503-A-C c.402A>C p.Lys134Asn Missense 5/19 - 1
3-37048509-A-AA c.408dup p.Ala137Serfs*4 Frameshift 5/19 - 1
3-37048514-CC-C c.413del p.Pro138Leufs*22 Frameshift 5/19 - 1
3-37048522-C-G c.421C>G p.Pro141Ala Missense 5/19 - 2
3-37048532-G-A c.431G>A p.Gly144Asp Missense 5/19 - 1
3-37048537-C-T c.436C>T p.Gln146* Nonsense 5/19 - 1
3-37048539-A-G c.438A>G p.Gln146Gln Synonymous 5/19 - 1
3-37048541-G-GT c.440_441insT p.Thr148Aspfs*24 Frameshift 5/19 - 1
3-37048541-GGGACCCAG-G c.440_447del p.Gly147Aspfs*22 Frameshift 5/19 - 1
3-37048546-C-T c.445C>T p.Gln149* Nonsense 5/19 - 1
3-37048550-T-C c.449T>C p.Ile150Thr Missense 5/19 - 1
3-37048551-C-G c.450C>G p.Ile150Met Missense 5/19 - 1
3-37048554-G-A c.453G>A p.Thr151Thr Synonymous 5/19 - 2
3-37048555-G-T c.453+1G>T - IntronicSNV - 5/18 1
3-37048556-T-C c.453+2T>C - IntronicSNV - 5/18 1
3-37048556-T-G c.453+2T>G - IntronicSNV - 5/18 1
3-37048633-A-G c.453+79A>G - IntronicSNV - 5/18 5
3-37049098-T-C c.453+544T>C - IntronicSNV - 5/18 1
3-37049250-AC-A c.453+696del - IntronicDeletion - 5/18 1
3-37049271-CT-C c.453+717del - IntronicDeletion - 5/18 2
3-37050292-A-G c.454-13A>G - IntronicSNV - 5/18 1
3-37050304-G-A c.454-1G>A - IntronicSNV - 5/18 5
3-37050304-G-C c.454-1G>C - IntronicSNV - 5/18 1
3-37050304-G-T c.454-1G>T - IntronicSNV - 5/18 1
3-37050305-G-A c.454G>A p.Val152Met Missense 6/19 - 1
3-37050307-G-GTTCA c.456_457insTTCA p.Glu153Phefs*20 Frameshift 6/19 - 1
3-37050312-GA-G c.461del p.Asp154Alafs*6 Frameshift 6/19 - 1
3-37050313-C-T c.462C>T p.Asp154Asp Synonymous 6/19 - 1
3-37050314-CC-C c.463del p.Leu155Phefs*5 Frameshift 6/19 - 1
3-37050315-T-G c.464T>G p.Leu155Arg Missense 6/19 - 3
3-37050320-T-G c.469T>G p.Tyr157Asp Missense 6/19 - 1
3-37050320-TA-CT c.469_470delinsCT p.Tyr157Leu Missense 6/19 - 1
3-37050320-TA-GC c.469_470delinsGC p.Tyr157Ala Missense 6/19 - 2
3-37050320-TT-T c.469del p.Tyr157Thrfs*3 Frameshift 6/19 - 1
3-37050320-T-TC c.469_470insC p.Tyr157Serfs*15 Frameshift 6/19 - 1
3-37050321-A-T c.470A>T p.Tyr157Phe Missense 6/19 - 1
3-37050321-A-C c.470A>C p.Tyr157Ser Missense 6/19 - 1
3-37050323-A-G c.472A>G p.Asn158Asp Missense 6/19 - 1
3-37050324-AA-A c.473del p.Asn158Thrfs*2 Frameshift 6/19 - 1
3-37050325-C-T c.474C>T p.Asn158Asn Synonymous 6/19 - 2
3-37050330-C-T c.479C>T p.Ala160Val Missense 6/19 - 1
3-37050332-ACG-GAC c.481_483delinsGAC p.Thr161Asp Missense 6/19 - 1
3-37050335-AG-GA c.484_485delinsGA p.Arg162Glu Missense 6/19 - 1
3-37050339-AG-A c.488del p.Arg163Lysfs*4 Frameshift 6/19 - 1
3-37050341-A-G c.490A>G p.Lys164Glu Missense 6/19 - 1
3-37050343-A-C c.492A>C p.Lys164Asn Missense 6/19 - 1
3-37050344-AG-A c.493del p.Ala165Leufs*2 Frameshift 6/19 - 1
3-37050348-T-A c.497T>A p.Leu166* Nonsense 6/19 - 1
3-37050349-A-C c.498A>C p.Leu166Phe Missense 6/19 - 2
3-37050352-A-T c.501A>T p.Lys167Asn Missense 6/19 - 1
3-37050352-A-C c.501A>C p.Lys167Asn Missense 6/19 - 1
3-37050352-A-AT c.501_502insT p.Asn168* Nonsense 6/19 - 1
3-37050358-CAA-C c.507_508del p.Ser170* Frameshift 6/19 - 1
3-37050365-G-A c.514G>A p.Glu172Lys Missense 6/19 - 1
3-37050369-TAT-T c.518_519del p.Tyr173Trpfs*18 Frameshift 6/19 - 1
3-37050373-GG-G c.522del p.Ile176Phefs*26 Frameshift 6/19 - 1
3-37050376-A-T c.525A>T p.Lys175Asn Missense 6/19 - 1
3-37050376-A-C c.525A>C p.Lys175Asn Missense 6/19 - 1
3-37050390-T-A c.539T>A p.Val180Asp Missense 6/19 - 1
3-37050394-C-G c.543C>G p.Gly181Gly Synonymous 6/19 - 1
3-37050395-AG-GA c.544_545delinsGA p.Arg182Glu Missense 6/19 - 1
3-37050395-A-G c.544A>G p.Arg182Gly Missense 6/19 - 5
3-37050396-G-A c.545G>A p.Arg182Lys Missense 6/19 - 1
3-37050397-G-A c.545+1G>A - IntronicSNV - 6/18 3
3-37050397-G-T c.545+1G>T - IntronicSNV - 6/18 1
3-37050398-T-A c.545+2T>A - IntronicSNV - 6/18 1
3-37050398-T-C c.545+2T>C - IntronicSNV - 6/18 1
3-37050399-TA-T c.545+3del - IntronicDeletion - 6/18 1
3-37050399-A-G c.545+3A>G - IntronicSNV - 6/18 3
3-37050439-C-G c.545+43C>G - IntronicSNV - 6/18 1
3-37050468-T-A c.545+72T>A - IntronicSNV - 6/18 1
3-37053120-T-C c.546-191T>C - IntronicSNV - 6/18 6
3-37053309-A-G c.546-2A>G - IntronicSNV - 6/18 3
3-37053313-A-G c.548A>G p.Tyr183Cys Missense 7/19 - 1
3-37053316-C-A c.551C>A p.Ser184* Nonsense 7/19 - 1
3-37053318-G-C c.553G>C p.Val185Leu Missense 7/19 - 1
3-37053318-G-T c.553G>T p.Val185Leu Missense 7/19 - 1
3-37053319-T-G c.554T>G p.Val185Gly Missense 7/19 - 3
3-37053325-A-C c.560A>C p.Asn187Thr Missense 7/19 - 1
3-37053337-G-T c.572G>T p.Ser191Ile Missense 7/19 - 2
3-37053342-T-C c.577T>C p.Ser193Pro Missense 7/19 - 1
3-37053343-C-T c.578C>T p.Ser193Leu Missense 7/19 - 1
3-37053343-C-G c.578C>G p.Ser193* Nonsense 7/19 - 1
3-37053348-A-T c.583A>T p.Lys195* Nonsense 7/19 - 1
3-37053353-AA-A c.588del p.Lys196Asnfs*6 Frameshift 7/19 - 2
3-37053354-G-T c.588+1G>T - IntronicSNV - 7/18 3
3-37053354-G-A c.588+1G>A - IntronicSNV - 7/18 2
3-37053355-T-A c.588+2T>A - IntronicSNV - 7/18 1
3-37053356-TAAGT-T c.588+3_588+6del - IntronicDeletion - 7/18 1
3-37053358-G-C c.588+5G>C - IntronicSNV - 7/18 1
3-37053358-G-A c.588+5G>A - IntronicSNV - 7/18 1
3-37053500-A-G c.589-2A>G - IntronicSNV - 7/18 5
3-37053500-A-C c.589-2A>C - IntronicSNV - 7/18 1
3-37053508-G-C c.595G>C p.Glu199Gln Missense 8/19 - 2
3-37053508-G-T c.595G>T p.Glu199* Nonsense 8/19 - 1
3-37053510-AGA-A c.597_598del p.Glu199Aspfs*4 Frameshift 8/19 - 2
3-37053517-AG-A c.604del p.Ala202Leufs*27 Frameshift 8/19 - 1
3-37053523-G-C c.610G>C p.Val204Leu Missense 8/19 - 1
3-37053526-A-AA c.613dup p.Arg205Lysfs*21 Frameshift 8/19 - 1
3-37053542-C-T c.629C>T p.Ala210Val Missense 8/19 - 1
3-37053550-G-T c.637G>T p.Val213Leu Missense 8/19 - 2
3-37053550-G-A c.637G>A p.Val213Met Missense 8/19 - 7
3-37053562-C-T c.649C>T p.Arg217Cys Missense 8/19 - 13
3-37053568-A-C c.655A>C p.Ile219Leu Missense 8/19 - 31
3-37053568-A-G c.655A>G p.Ile219Val Missense 8/19 - 100
3-37053568-A-T c.655A>T p.Ile219Phe Missense 8/19 - 28
3-37053570-C-G c.657C>G p.Ile219Met Missense 8/19 - 1
3-37053578-AA-A c.665del p.Asn222Metfs*7 Frameshift 8/19 - 3
3-37053581-C-A c.668C>A p.Ala223Asp Missense 8/19 - 1
3-37053586-TA-T c.673del p.Ser225Valfs*4 Frameshift 8/19 - 1
3-37053586-AGT-TGA c.673_675delinsTGA p.Ser225* Nonsense 8/19 - 1
3-37053589-C-T c.676C>T p.Arg226* Nonsense 8/19 - 20
3-37053590-G-T c.677G>T p.Arg226Leu Missense 8/19 - 9
3-37053590-G-A c.677G>A p.Arg226Gln Missense 8/19 - 21
3-37053590-G-C c.677G>C p.Arg226Pro Missense 8/19 - 1
3-37053591-G-T c.677+1G>T - IntronicSNV - 8/18 1
3-37053591-G-A c.677+1G>A - IntronicSNV - 8/18 1
3-37053593-A-G c.677+3A>G - IntronicSNV - 8/18 4
3-37055922-G-C c.678-1G>C - IntronicSNV - 8/18 2
3-37055924-AGAACTGATAGAAATTGGATGTGAGGATAAAACCCTAGCCTTCAAAATGAATGGTTACAT-A c.679_737del p.Glu227Ilefs*60 InFrameDeletion 9/19 - 5
3-37055928-T-C c.683T>C p.Leu228Pro Missense 9/19 - 1
3-37055932-TA-T c.687del p.Ile229Metfs*10 Frameshift 9/19 - 1
3-37055933-G-T c.688G>T p.Glu230* Nonsense 9/19 - 1
3-37055945-G-C c.700G>C p.Glu234Gln Missense 9/19 - 1
3-37055946-A-G c.701A>G p.Glu234Gly Missense 9/19 - 1
3-37055947-G-A c.702G>A p.Glu234Glu Synonymous 9/19 - 1
3-37055966-A-G c.721A>G p.Lys241Glu Missense 9/19 - 1
3-37055967-A-G c.722A>G p.Lys241Arg Missense 9/19 - 1
3-37055976-G-T c.731G>T p.Gly244Val Missense 9/19 - 3
3-37055976-G-A c.731G>A p.Gly244Asp Missense 9/19 - 10
3-37055984-T-G c.739T>G p.Ser247Ala Missense 9/19 - 1
3-37055984-T-C c.739T>C p.Ser247Pro Missense 9/19 - 4
3-37056000-C-T c.755C>T p.Ser252Leu Missense 9/19 - 1
3-37056000-C-A c.755C>A p.Ser252* Nonsense 9/19 - 6
3-37056021-T-C c.776T>C p.Leu259Ser Missense 9/19 - 1
3-37056024-T-G c.779T>G p.Leu260Arg Missense 9/19 - 2
3-37056027-TTCAT-T c.782_785del p.Phe261Serfs*6 Frameshift 9/19 - 1
3-37056035-C-T c.790C>T p.His264Tyr Missense 9/19 - 1
3-37056035-C-CC c.790dup p.His264Profs*43 SpliceDonorInsertion - - 1
3-37056036-CG-C c.790+1del - IntronicDeletion - 9/18 1
3-37056036-G-C c.790+1G>C - IntronicSNV - 9/18 1
3-37056036-G-A c.790+1G>A - IntronicSNV - 9/18 12
3-37056036-G-T c.790+1G>T - IntronicSNV - 9/18 1
3-37056037-T-C c.790+2T>C - IntronicSNV - 9/18 1
3-37056037-T-TT c.790+2dup - IntronicInsertion - 9/18 4
3-37056038-A-T c.790+3A>T - IntronicSNV - 9/18 1
3-37056039-A-T c.790+4A>T - IntronicSNV - 9/18 1
3-37056040-G-T c.790+5G>T - IntronicSNV - 9/18 1
3-37056040-G-A c.790+5G>A - IntronicSNV - 9/18 1
3-37056045-A-G c.790+10A>G - IntronicSNV - 9/18 4
3-37056990-C-A c.790+955C>A - IntronicSNV - 9/18 2
3-37057591-C-T c.791-1406C>T - IntronicSNV - 9/18 4
3-37058509-A-G c.791-488A>G - IntronicSNV - 9/18 2
3-37058992-T-G c.791-5T>G - IntronicSNV - 9/18 1
3-37058996-G-C c.791-1G>C - IntronicSNV - 9/18 4
3-37058997-A-T c.791A>T p.His264Leu Missense 10/19 - 1
3-37058997-A-G c.791A>G p.His264Arg Missense 10/19 - 2
3-37058999-C-A c.793C>A p.Arg265Ser Missense 10/19 - 4
3-37058999-C-T c.793C>T p.Arg265Cys Missense 10/19 - 31
3-37058999-CGT-AAG c.793_795delinsAAG p.Arg265Lys Missense 10/19 - 1
3-37059000-G-C c.794G>C p.Arg265Pro Missense 10/19 - 3
3-37059000-G-A c.794G>A p.Arg265His Missense 10/19 - 6
3-37059008-G-C c.802G>C p.Glu268Gln Missense 10/19 - 1
3-37059009-A-G c.803A>G p.Glu268Gly Missense 10/19 - 3
3-37059012-C-G c.806C>G p.Ser269* Nonsense 10/19 - 2
3-37059014-AACTT-A c.808_811del p.Thr270Profs*2 Frameshift 10/19 - 1
3-37059020-T-G c.814T>G p.Leu272Val Missense 10/19 - 2
3-37059021-T-C c.815T>C p.Leu272Ser Missense 10/19 - 1
3-37059023-AGA-CAT c.817_819delinsCAT p.Arg273His Missense 10/19 - 1
3-37059024-G-T c.818G>T p.Arg273Ile Missense 10/19 - 1
3-37059027-A-G c.821A>G p.Lys274Arg Missense 10/19 - 1
3-37059032-A-AA c.826dup p.Ile276Asnfs*31 Frameshift 10/19 - 1
3-37059038-A-AA c.832dup p.Thr278Asnfs*29 Frameshift 10/19 - 1
3-37059046-T-A c.840T>A p.Tyr280* Nonsense 10/19 - 1
3-37059048-C-T c.842C>T p.Ala281Val Missense 10/19 - 2
3-37059051-C-G c.845C>G p.Ala282Gly Missense 10/19 - 2
3-37059052-C-G c.846C>G p.Ala282Ala Synonymous 10/19 - 1
3-37059055-T-A c.849T>A p.Tyr283* Nonsense 10/19 - 1
3-37059057-T-A c.851T>A p.Leu284* Nonsense 10/19 - 1
3-37059061-C-T c.855C>T p.Pro285Pro Synonymous 10/19 - 1
3-37059062-A-C c.856A>C p.Lys286Gln Missense 10/19 - 2
3-37059062-A-G c.856A>G p.Lys286Glu Missense 10/19 - 1
3-37059064-A-AT c.858_859insT p.Asn287* Nonsense 10/19 - 1
3-37059067-C-T c.861C>T p.Asn287Asn Synonymous 10/19 - 1
3-37059072-CAC-C c.866_867del p.His289Profs*17 Frameshift 10/19 - 2
3-37059076-A-AA c.870dup p.Phe291Ilefs*16 Frameshift 10/19 - 1
3-37059081-CTGTA-C c.875_878del p.Leu292Profs*4 Frameshift 10/19 - 1
3-37059081-T-C c.875T>C p.Leu292Pro Missense 10/19 - 1
3-37059083-T-G c.877T>G p.Tyr293Asp Missense 10/19 - 2
3-37059088-C-G c.882C>G p.Leu294Leu Synonymous 10/19 - 2
3-37059088-C-T c.882C>T p.Leu294Leu Synonymous 10/19 - 4
3-37059089-A-G c.883A>G p.Ser295Gly Missense 10/19 - 4
3-37059089-A-C c.883A>C p.Ser295Arg Missense 10/19 - 2
3-37059090-G-C c.884G>C p.Ser295Thr Missense 10/19 - 1
3-37059090-G-A c.884G>A p.Ser295Asn Missense 10/19 - 4
3-37059090-G-T c.884G>T p.Ser295Ile Missense 10/19 - 1
3-37059092-T-C c.884+2T>C - IntronicSNV - 10/18 1
3-37059129-G-A c.884+39G>A - IntronicSNV - 10/18 1
3-37060459-T-C c.885-1342T>C - IntronicSNV - 10/18 1
3-37061799-A-G c.885-2A>G - IntronicSNV - 10/18 1
3-37061803-T-G c.887T>G p.Leu296* Nonsense 11/19 - 1
3-37061812-G-GC c.896_897insC p.Pro300Serfs*7 Frameshift 11/19 - 1
3-37061814-C-T c.898C>T p.Pro300Ser Missense 11/19 - 1
3-37061817-C-CC c.901dup p.Gln301Profs*6 Frameshift 11/19 - 1
3-37061817-C-T c.901C>T p.Gln301* Nonsense 11/19 - 4
3-37061820-AA-GC c.904_905delinsGC p.Asn302Ala Missense 11/19 - 2
3-37061824-T-A c.908T>A p.Val303Glu Missense 11/19 - 1
3-37061826-G-GG c.910dup p.Asp304Glyfs*3 Frameshift 11/19 - 1
3-37061826-G-C c.910G>C p.Asp304His Missense 11/19 - 1
3-37061827-A-G c.911A>G p.Asp304Gly Missense 11/19 - 2
3-37061827-A-T c.911A>T p.Asp304Val Missense 11/19 - 2
3-37061834-T-G c.918T>G p.Asn306Lys Missense 11/19 - 1
3-37061834-T-A c.918T>A p.Asn306Lys Missense 11/19 - 1
3-37061836-T-A c.920T>A p.Val307Glu Missense 11/19 - 1
3-37061839-A-C c.923A>C p.His308Pro Missense 11/19 - 1
3-37061841-C-T c.925C>T p.Pro309Ser Missense 11/19 - 1
3-37061841-C-G c.925C>G p.Pro309Ala Missense 11/19 - 1
3-37061850-C-A c.934C>A p.His312Asn Missense 11/19 - 1
3-37061861-C-G c.945C>G p.His315Gln Missense 11/19 - 1
3-37061865-C-A c.949C>A p.Leu317Met Missense 11/19 - 2
3-37061865-C-G c.949C>G p.Leu317Val Missense 11/19 - 1
3-37061870-CG-TA c.954_955delinsTA p.Glu319Lys Missense 11/19 - 1
3-37061870-AC-A c.954del p.His318Glnfs*49 Frameshift 11/19 - 1
3-37061871-G-A c.955G>A p.Glu319Lys Missense 11/19 - 1
3-37061878-G-T c.962G>T p.Ser321Ile Missense 11/19 - 1
3-37061883-C-A c.967C>A p.Leu323Met Missense 11/19 - 1
3-37061890-G-A c.974G>A p.Arg325Gln Missense 11/19 - 1
3-37061893-T-C c.977T>C p.Val326Ala Missense 11/19 - 2
3-37061895-C-T c.979C>T p.Gln327* Nonsense 11/19 - 2
3-37061897-GC-TT c.981_982delinsTT p.Gln327_Gln328delinsHis* MultiAAMissense 11/19 - 1
3-37061901-C-A c.985C>A p.His329Asn Missense 11/19 - 1
3-37061902-A-C c.986A>C p.His329Pro Missense 11/19 - 6
3-37061904-CATC-C c.988_990del p.Ile330del InFrameDeletion 11/19 - 3
3-37061908-GA-G c.992del p.Glu331Glyfs*36 Frameshift 11/19 - 1
3-37061913-CAAGC-C c.997_1000del p.Lys333Serfs*33 Frameshift 11/19 - 2
3-37061923-G-A c.1007G>A p.Gly336Asp Missense 11/19 - 1
3-37061925-TC-CG c.1009_1010delinsCG p.Ser337Arg Missense 11/19 - 1
3-37061927-CC-C c.1011del p.Asn338Ilefs*29 Frameshift 11/19 - 1
3-37061929-A-G c.1013A>G p.Asn338Ser Missense 11/19 - 3
3-37061937-AG-GA c.1021_1022delinsGA p.Arg341Glu Missense 11/19 - 1
3-37061939-GG-G c.1023del p.Met342Cysfs*25 Frameshift 11/19 - 1
3-37061940-GA-G c.1024del p.Met342Cysfs*25 Frameshift 11/19 - 2
3-37061944-A-G c.1028A>G p.Tyr343Cys Missense 11/19 - 1
3-37061953-A-G c.1037A>G p.Gln346Arg Missense 11/19 - 2
3-37061954-G-T c.1038G>T p.Gln346His Missense 11/19 - 2
3-37061954-G-A c.1038G>A p.Gln346Gln Synonymous 11/19 - 1
3-37061954-G-C c.1038G>C p.Gln346His Missense 11/19 - 1
3-37062040-T-C c.1038+86T>C - IntronicSNV - 11/18 4
3-37062040-T-G c.1038+86T>G - IntronicSNV - 11/18 2
3-37062854-C-T c.1038+900C>T - IntronicSNV - 11/18 2
3-37062959-G-T c.1038+1005G>T - IntronicSNV - 11/18 1
3-37067050-A-T c.1039-78A>T - IntronicSNV - 11/18 1
3-37067050-A-G c.1039-78A>G - IntronicSNV - 11/18 2
3-37067097-A-T c.1039-31A>T - IntronicSNV - 11/18 1
3-37067120-T-A c.1039-8T>A - IntronicSNV - 11/18 3
3-37067123-T-G c.1039-5T>G - IntronicSNV - 11/18 1
3-37067126-A-T c.1039-2A>T - IntronicSNV - 11/18 1
3-37067128-GAC-G c.1039_1040del p.Thr347Phefs*14 SpliceAcceptorDeletion 12/19 - 2
3-37067129-C-A c.1040C>A p.Thr347Asn Missense 12/19 - 1
3-37067139-A-T c.1050A>T p.Pro350Pro Synonymous 12/19 - 1
3-37067139-A-C c.1050A>C p.Pro350Pro Synonymous 12/19 - 1
3-37067139-A-G c.1050A>G p.Pro350Pro Synonymous 12/19 - 1
3-37067139-CA-C c.1050del p.Gly351Aspfs*16 Frameshift 12/19 - 1
3-37067156-C-T c.1067C>T p.Ser356Phe Missense 12/19 - 1
3-37067171-A-G c.1082A>G p.Lys361Arg Missense 12/19 - 1
3-37067179-A-C c.1090A>C p.Thr364Pro Missense 12/19 - 1
3-37067189-C-A c.1100C>A p.Thr367Asn Missense 12/19 - 1
3-37067190-CC-C c.1101del p.Ser368Argfs*33 Frameshift 12/19 - 1
3-37067192-C-T c.1103C>T p.Ser368Leu Missense 12/19 - 2
3-37067195-C-T c.1106C>T p.Ser369Phe Missense 12/19 - 1
3-37067218-A-G c.1129A>G p.Lys377Glu Missense 12/19 - 1
3-37067219-A-C c.1130A>C p.Lys377Thr Missense 12/19 - 1
3-37067219-A-G c.1130A>G p.Lys377Arg Missense 12/19 - 1
3-37067225-A-G c.1136A>G p.Tyr379Cys Missense 12/19 - 2
3-37067229-C-G c.1140C>G p.Ala380Ala Synonymous 12/19 - 1
3-37067229-C-A c.1140C>A p.Ala380Ala Synonymous 12/19 - 1
3-37067229-C-T c.1140C>T p.Ala380Ala Synonymous 12/19 - 1
3-37067231-A-G c.1142A>G p.His381Arg Missense 12/19 - 1
3-37067236-A-G c.1147A>G p.Met383Val Missense 12/19 - 1
3-37067237-T-C c.1148T>C p.Met383Thr Missense 12/19 - 2
3-37067240-T-A c.1151T>A p.Val384Asp Missense 12/19 - 38
3-37067242-C-T c.1153C>T p.Arg385Cys Missense 12/19 - 10
3-37067251-T-TT c.1162dup p.Ser388Phefs*7 Frameshift 12/19 - 1
3-37067252-C-CT c.1163_1164insT p.Arg389Profs*6 Frameshift 12/19 - 1
3-37067253-C-T c.1164C>T p.Ser388Ser Synonymous 12/19 - 1
3-37067254-CG-TA c.1165_1166delinsTA p.Arg389* Nonsense 12/19 - 2
3-37067254-C-A c.1165C>A p.Arg389Arg Synonymous 12/19 - 1
3-37067254-C-T c.1165C>T p.Arg389Trp Missense 12/19 - 2
3-37067255-G-A c.1166G>A p.Arg389Gln Missense 12/19 - 3
3-37067264-AA-A c.1175del p.Lys392Serfs*9 Frameshift 12/19 - 1
3-37067264-A-C c.1175A>C p.Lys392Thr Missense 12/19 - 1
3-37067266-C-A c.1177C>A p.Leu393Ile Missense 12/19 - 1
3-37067267-T-C c.1178T>C p.Leu393Pro Missense 12/19 - 1
3-37067275-T-A c.1186T>A p.Phe396Ile Missense 12/19 - 1
3-37067281-C-T c.1192C>T p.Gln398* Nonsense 12/19 - 1
3-37067287-C-G c.1198C>G p.Leu400Val Missense 12/19 - 1
3-37067293-A-T c.1204A>T p.Lys402* Nonsense 12/19 - 1
3-37067306-G-A c.1217G>A p.Ser406Asn Missense 12/19 - 5
3-37067308-C-T c.1219C>T p.Gln407* Nonsense 12/19 - 2
3-37067314-CCAGGCCATTGTCACAGAGGATAAGACAGATATTTC-C c.1225_1259del p.Gln409* Frameshift 12/19 - 1
3-37067314-C-T c.1225C>T p.Gln409* Nonsense 12/19 - 2
3-37067315-A-C c.1226A>C p.Gln409Pro Missense 12/19 - 1
3-37067315-CAG-C c.1226_1227del p.Gln409Argfs*7 Frameshift 12/19 - 1
3-37067327-C-T c.1238C>T p.Thr413Ile Missense 12/19 - 1
3-37067329-AG-A c.1240del p.Glu414Argfs*77 Frameshift 12/19 - 1
3-37067329-G-A c.1240G>A p.Glu414Lys Missense 12/19 - 1
3-37067335-A-T c.1246A>T p.Lys416* Nonsense 12/19 - 1
3-37067335-A-G c.1246A>G p.Lys416Glu Missense 12/19 - 2
3-37067341-AGA-A c.1252_1253del p.Asp418Tyrfs*3 Frameshift 12/19 - 1
3-37067348-C-G c.1259C>G p.Ser420Cys Missense 12/19 - 1
3-37067356-AG-GC c.1267_1268delinsGC p.Arg423Ala Missense 12/19 - 1
3-37067357-G-C c.1268G>C p.Arg423Thr Missense 12/19 - 1
3-37067360-C-G c.1271C>G p.Ala424Gly Missense 12/19 - 1
3-37067362-TA-T c.1273del p.Arg425Glyfs*66 Frameshift 12/19 - 1
3-37067365-C-T c.1276C>T p.Gln426* Nonsense 12/19 - 7
3-37067379-G-T c.1290G>T p.Glu430Asp Missense 12/19 - 1
3-37067379-G-C c.1290G>C p.Glu430Asp Missense 12/19 - 1
3-37067383-C-G c.1294C>G p.Leu432Val Missense 12/19 - 1
3-37067384-T-C c.1295T>C p.Leu432Pro Missense 12/19 - 1
3-37067386-G-C c.1297G>C p.Glu433Gln Missense 12/19 - 1
3-37067399-CC-C c.1310del p.Pro437Leufs*54 Frameshift 12/19 - 1
3-37067410-G-A c.1321G>A p.Ala441Thr Missense 12/19 - 6
3-37067411-C-T c.1322C>T p.Ala441Val Missense 12/19 - 1
3-37067414-C-T c.1325C>T p.Ala442Val Missense 12/19 - 1
3-37067416-A-G c.1327A>G p.Lys443Glu Missense 12/19 - 1
3-37067416-A-C c.1327A>C p.Lys443Gln Missense 12/19 - 2
3-37067432-GAG-G c.1343_1344del p.Glu448Glyfs*30 Frameshift 12/19 - 1
3-37067437-G-GG c.1348dup p.Asp450Glyfs*29 Frameshift 12/19 - 1
3-37067437-G-T c.1348G>T p.Asp450Tyr Missense 12/19 - 1
3-37067440-A-G c.1351A>G p.Thr451Ala Missense 12/19 - 1
3-37067443-A-T c.1354A>T p.Thr452Ser Missense 12/19 - 3
3-37067443-A-G c.1354A>G p.Thr452Ala Missense 12/19 - 2
3-37067447-A-AA c.1358dup p.Thr455Aspfs*24 Frameshift 12/19 - 1
3-37067447-A-C c.1358A>C p.Lys453Thr Missense 12/19 - 1
3-37067448-G-C c.1359G>C p.Lys453Asn Missense 12/19 - 1
3-37067448-G-A c.1359G>A p.Lys453Lys Synonymous 12/19 - 1
3-37067449-G-C c.1360G>C p.Gly454Arg Missense 12/19 - 3
3-37067454-T-A c.1365T>A p.Thr455Thr Synonymous 12/19 - 1
3-37067456-C-A c.1367C>A p.Ser456* Nonsense 12/19 - 1
3-37067468-A-C c.1379A>C p.Glu460Ala Missense 12/19 - 2
3-37067470-A-T c.1381A>T p.Lys461* Nonsense 12/19 - 5
3-37067470-A-G c.1381A>G p.Lys461Glu Missense 12/19 - 1
3-37067474-G-A c.1385G>A p.Arg462Lys Missense 12/19 - 1
3-37067474-G-T c.1385G>T p.Arg462Ile Missense 12/19 - 1
3-37067476-G-C c.1387G>C p.Gly463Arg Missense 12/19 - 1
3-37067476-G-A c.1387G>A p.Gly463Arg Missense 12/19 - 1
3-37067477-G-A c.1388G>A p.Gly463Glu Missense 12/19 - 1
3-37067477-G-T c.1388G>T p.Gly463Val Missense 12/19 - 1
3-37067482-A-AA c.1393dup p.Thr465Asnfs*14 Frameshift 12/19 - 1
3-37067489-AG-A c.1400del p.Ser467Thrfs*24 Frameshift 12/19 - 1
3-37067499-G-C c.1409+1G>C - IntronicSNV - 12/18 1
3-37068079-T-C c.1409+581T>C - IntronicSNV - 12/18 2
3-37068079-T-G c.1409+581T>G - IntronicSNV - 12/18 2
3-37068969-G-A c.1410-1306G>A - IntronicSNV - 12/18 6
3-37069845-TC-T c.1410-430del - IntronicDeletion - 12/18 1
3-37070106-C-T c.1410-169C>T - IntronicSNV - 12/18 8
3-37070221-C-T c.1410-54C>T - IntronicSNV - 12/18 1
3-37070276-AAAGAGA-A c.1411_1416del p.Lys471_Arg472del InFrameDeletion 13/19 - 1
3-37070276-AAAGA-A c.1411_1414del p.Lys471Aspfs*19 SpliceAcceptorDeletion 13/19 - 3
3-37070318-G-C c.1453G>C p.Asp485His Missense 13/19 - 1
3-37070322-C-T c.1457C>T p.Ser486Phe Missense 13/19 - 1
3-37070324-C-T c.1459C>T p.Arg487* Nonsense 13/19 - 11
3-37070325-G-C c.1460G>C p.Arg487Pro Missense 13/19 - 1
3-37070325-G-A c.1460G>A p.Arg487Gln Missense 13/19 - 2
3-37070329-AGGAAA-A c.1464_1468del p.Lys488Asnfs*13 Frameshift 13/19 - 3
3-37070353-C-CTAAA c.1488_1489insTAAA p.Arg497* Nonsense 13/19 - 1
3-37070354-CC-C c.1489del p.Arg497Glyfs*11 Frameshift 13/19 - 1
3-37070354-C-G c.1489C>G p.Arg497Gly Missense 13/19 - 1
3-37070354-C-CC c.1489dup p.Arg497Profs*6 Frameshift 13/19 - 5
3-37070354-CG-AA c.1489_1490delinsAA p.Arg497Lys Missense 13/19 - 1
3-37070365-TCAT-T c.1500_1502del p.Ile501del InFrameDeletion 13/19 - 2
3-37070378-TA-T c.1513del p.Ser505Valfs*3 Frameshift 13/19 - 1
3-37070382-T-C c.1517T>C p.Val506Ala Missense 13/19 - 7
3-37070393-C-T c.1528C>T p.Gln510* Nonsense 13/19 - 1
3-37070402-AATTAATGAGCA-A c.1537_1547del p.Ile513Glyfs*3 Frameshift 13/19 - 1
3-37070411-C-CC c.1546dup p.Gln516Profs*4 Frameshift 13/19 - 1
3-37070414-G-T c.1549G>T p.Gly517* Nonsense 13/19 - 1
3-37070421-A-G c.1556A>G p.Glu519Gly Missense 13/19 - 1
3-37070424-G-A c.1558+1G>A - IntronicSNV - 13/18 2
3-37070424-G-T c.1558+1G>T - IntronicSNV - 13/18 1
3-37070434-G-A c.1558+11G>A - IntronicSNV - 13/18 1
3-37070437-G-A c.1558+14G>A - IntronicSNV - 13/18 6
3-37074668-A-G c.1558+4245A>G - IntronicSNV - 13/18 1
3-37081675-A-G c.1559-2A>G - IntronicSNV - 13/18 1
3-37081675-A-T c.1559-2A>T - IntronicSNV - 13/18 4
3-37081675-A-C c.1559-2A>C - IntronicSNV - 13/18 1
3-37081676-G-C c.1559-1G>C - IntronicSNV - 13/18 1
3-37081678-T-TAAAA c.1560_1561insAAAA p.Leu521Lysfs*8 SpliceAcceptorInsertion 14/19 - 1
3-37081679-C-A c.1561C>A p.Leu521Ile Missense 14/19 - 2
3-37081691-T-G c.1573T>G p.Leu525Val Missense 14/19 - 1
3-37081694-C-T c.1576C>T p.His526Tyr Missense 14/19 - 1
3-37081713-G-T c.1595G>T p.Gly532Val Missense 14/19 - 1
3-37081720-TG-T c.1602del p.Asn535Ilefs*56 Frameshift 14/19 - 1
3-37081727-C-T c.1609C>T p.Gln537* Nonsense 14/19 - 2
3-37081729-AG-A c.1611del p.Gln537Hisfs*54 Frameshift 14/19 - 1
3-37081730-T-G c.1612T>G p.Trp538Gly Missense 14/19 - 1
3-37081732-G-A c.1614G>A p.Trp538* Nonsense 14/19 - 1
3-37081739-G-A c.1621G>A p.Ala541Thr Missense 14/19 - 3
3-37081742-C-T c.1624C>T p.Gln542* Nonsense 14/19 - 1
3-37081743-A-T c.1625A>T p.Gln542Leu Missense 14/19 - 4
3-37081748-C-T c.1630C>T p.Gln544* Nonsense 14/19 - 1
3-37081751-A-G c.1633A>G p.Thr545Ala Missense 14/19 - 1
3-37081755-A-G c.1637A>G p.Lys546Arg Missense 14/19 - 1
3-37081761-TACCTTCT-T c.1643_1649del p.Tyr548Serfs*41 Frameshift 14/19 - 1
3-37081764-T-C c.1646T>C p.Leu549Pro Missense 14/19 - 4
3-37081767-T-C c.1649T>C p.Leu550Pro Missense 14/19 - 2
3-37081770-A-C c.1652A>C p.Asn551Thr Missense 14/19 - 3
3-37081770-A-G c.1652A>G p.Asn551Ser Missense 14/19 - 1
3-37081775-ACC-TAA c.1657_1659delinsTAA p.Thr553* Nonsense 14/19 - 1
3-37081783-T-C c.1665T>C p.Leu555Leu Synonymous 14/19 - 1
3-37081785-G-T c.1667G>T p.Ser556Ile Missense 14/19 - 2
3-37081785-G-C c.1667G>C p.Ser556Thr Missense 14/19 - 1
3-37081785-G-A c.1667G>A p.Ser556Asn Missense 14/19 - 1
3-37081786-GG-G c.1667+1del - IntronicDeletion - 14/18 3
3-37081786-G-A c.1667+1G>A - IntronicSNV - 14/18 1
3-37081787-T-C c.1667+2T>C - IntronicSNV - 14/18 1
3-37082874-T-C c.1668-885T>C - IntronicSNV - 14/18 1
3-37083740-A-T c.1668-19A>T - IntronicSNV - 14/18 5
3-37083740-A-G c.1668-19A>G - IntronicSNV - 14/18 11
3-37083757-A-G c.1668-2A>G - IntronicSNV - 14/18 1
3-37083758-G-A c.1668-1G>A - IntronicSNV - 14/18 3
3-37083763-G-T c.1672G>T p.Glu558* Nonsense 15/19 - 3
3-37083767-T-G c.1676T>G p.Leu559Arg Missense 15/19 - 3
3-37083770-TT-T c.1679del p.Phe560Serfs*31 Frameshift 15/19 - 1
3-37083772-T-C c.1681T>C p.Tyr561His Missense 15/19 - 2
3-37083772-T-TT c.1681dup p.Tyr561Leufs*7 Frameshift 15/19 - 2
3-37083774-C-G c.1683C>G p.Tyr561* Nonsense 15/19 - 1
3-37083775-C-T c.1684C>T p.Gln562* Nonsense 15/19 - 2
3-37083780-A-ATAAA c.1689_1690insTAAA p.Leu564* Nonsense 15/19 - 1
3-37083780-A-G c.1689A>G p.Ile563Met Missense 15/19 - 1
3-37083780-A-AA c.1689dup p.Leu564Thrfs*4 Frameshift 15/19 - 1
3-37083781-ACTCA-A c.1690_1693del p.Leu564Phefs*26 Frameshift 15/19 - 2
3-37083784-A-T c.1693A>T p.Ile565Phe Missense 15/19 - 2
3-37083804-TT-T c.1713del p.Phe571Leufs*20 Frameshift 15/19 - 1
3-37083812-T-C c.1721T>C p.Leu574Pro Missense 15/19 - 4
3-37083815-G-A c.1724G>A p.Arg575Lys Missense 15/19 - 2
3-37083822-G-A c.1731G>A p.Ser577Ser Synonymous 15/19 - 16
3-37083822-G-C c.1731G>C p.Ser577Ser Synonymous 15/19 - 9
3-37083822-G-T c.1731G>T p.Ser577Ser Synonymous 15/19 - 7
3-37083823-G-C c.1731+1G>C - IntronicSNV - 15/18 1
3-37083823-G-A c.1731+1G>A - IntronicSNV - 15/18 3
3-37083823-G-T c.1731+1G>T - IntronicSNV - 15/18 1
3-37083826-A-G c.1731+4A>G - IntronicSNV - 15/18 1
3-37083840-TT-T c.1731+18del - IntronicDeletion - 15/18 1
3-37088746-A-T c.1732-264A>T - IntronicSNV - 15/18 1
3-37088991-T-A c.1732-19T>A - IntronicSNV - 15/18 1
3-37089008-A-T c.1732-2A>T - IntronicSNV - 15/18 3
3-37089009-G-A c.1732-1G>A - IntronicSNV - 15/18 2
3-37089011-A-G c.1733A>G p.Glu578Gly Missense 16/19 - 2
3-37089011-GAGCCAGCACCGCTCTTTGACCTTGCCATGCTTGCCTTAGATAGTCCAGAGAGTGGCTGG-G c.1734_1792del p.Glu578Aspfs*12 Unclassified 16/19 - 1
3-37089013-GCCAGCACCGCTCTTTGACCTTGCCATGCTTGCCTTAGATAGTCCAGAGAGTGGCTGGAC-G c.1735_1793del p.Pro579Argfs*11 InFrameDeletion 16/19 - 1
3-37089020-C-T c.1742C>T p.Pro581Leu Missense 16/19 - 7
3-37089021-G-A c.1743G>A p.Pro581Pro Synonymous 16/19 - 2
3-37089021-CG-C c.1743del p.Leu582Serfs*9 Frameshift 16/19 - 1
3-37089022-GCTC-G c.1744_1746del p.Leu582del InFrameDeletion 16/19 - 1
3-37089022-C-G c.1744C>G p.Leu582Val Missense 16/19 - 4
3-37089022-C-T c.1744C>T p.Leu582Phe Missense 16/19 - 2
3-37089031-C-A c.1753C>A p.Leu585Ile Missense 16/19 - 1
3-37089031-CT-GC c.1753_1754delinsGC p.Leu585Ala Missense 16/19 - 1
3-37089032-T-G c.1754T>G p.Leu585Arg Missense 16/19 - 1
3-37089034-G-C c.1756G>C p.Ala586Pro Missense 16/19 - 2
3-37089036-C-CC c.1758dup p.Met587Hisfs*6 Frameshift 16/19 - 3
3-37089041-T-C c.1763T>C p.Leu588Pro Missense 16/19 - 3
3-37089044-C-A c.1766C>A p.Ala589Asp Missense 16/19 - 2
3-37089044-C-T c.1766C>T p.Ala589Val Missense 16/19 - 1
3-37089049-G-GG c.1771dup p.Asp591Glyfs*2 Frameshift 16/19 - 2
3-37089049-AG-A c.1771del p.Asp591Ilefs*25 Frameshift 16/19 - 1
3-37089050-A-G c.1772A>G p.Asp591Gly Missense 16/19 - 1
3-37089050-GATAG-G c.1772_1775del p.Asp591Valfs*24 Frameshift 16/19 - 1
3-37089061-GAG-G c.1783_1784del p.Ser595Trpfs*14 Frameshift 16/19 - 1
3-37089077-A-G c.1799A>G p.Glu600Gly Missense 16/19 - 1
3-37089080-A-G c.1802A>G p.Asp601Gly Missense 16/19 - 2
3-37089086-C-G c.1808C>G p.Pro603Arg Missense 16/19 - 1
3-37089088-A-T c.1810A>T p.Lys604* Nonsense 16/19 - 1
3-37089091-G-C c.1813G>C p.Glu605Gln Missense 16/19 - 1
3-37089092-A-C c.1814A>C p.Glu605Ala Missense 16/19 - 1
3-37089098-T-A c.1820T>A p.Leu607His Missense 16/19 - 6
3-37089101-C-A c.1823C>A p.Ala608Asp Missense 16/19 - 3
3-37089110-T-C c.1832T>C p.Ile611Thr Missense 16/19 - 1
3-37089111-T-TT c.1833dup p.Val612Cysfs*2 Frameshift 16/19 - 2
3-37089113-GTTG-G c.1835_1837del p.Val612del InFrameDeletion 16/19 - 1
3-37089115-G-T c.1837G>T p.Glu613* Nonsense 16/19 - 1
3-37089121-C-CC c.1843dup p.Leu615Profs*6 Frameshift 16/19 - 1
3-37089130-AA-GT c.1852_1853delinsGT p.Lys618Val Missense 16/19 - 1
3-37089130-AA-GC c.1852_1853delinsGC p.Lys618Ala Missense 16/19 - 26
3-37089130-AA-TG c.1852_1853delinsTG p.Lys618Trp Missense 16/19 - 1
3-37089130-GAAG-G c.1852_1854del p.Lys618del InFrameDeletion 16/19 - 29
3-37089130-A-G c.1852A>G p.Lys618Glu Missense 16/19 - 8
3-37089130-A-T c.1852A>T p.Lys618* Nonsense 16/19 - 2
3-37089131-A-T c.1853A>T p.Lys618Met Missense 16/19 - 1
3-37089131-A-G c.1853A>G p.Lys618Arg Missense 16/19 - 2
3-37089131-A-C c.1853A>C p.Lys618Thr Missense 16/19 - 14
3-37089133-GG-G c.1855del p.Ala619Leufs*18 Frameshift 16/19 - 3
3-37089136-G-A c.1858G>A p.Glu620Lys Missense 16/19 - 1
3-37089141-TG-T c.1863del p.Met621Ilefs*16 Frameshift 16/19 - 2
3-37089141-G-GT c.1863_1864insT p.Leu622Serfs*10 Frameshift 16/19 - 1
3-37089142-C-A c.1864C>A p.Leu622Ile Missense 16/19 - 1
3-37089143-T-A c.1865T>A p.Leu622His Missense 16/19 - 6
3-37089144-TT-T c.1866del p.Ala623Glnfs*14 Frameshift 16/19 - 1
3-37089148-G-C c.1870G>C p.Asp624His Missense 16/19 - 1
3-37089153-T-G c.1875T>G p.Tyr625* Nonsense 16/19 - 1
3-37089154-T-C c.1876T>C p.Phe626Leu Missense 16/19 - 1
3-37089166-AATTGA-A c.1888_1892del p.Ile630* Frameshift 16/19 - 1
3-37089168-T-TT c.1890dup p.Asp631* Nonsense 16/19 - 4
3-37089171-AT-A c.1893del p.Asp631Glufs*6 Frameshift 16/19 - 1
3-37089174-G-C c.1896G>C p.Glu632Asp Missense 16/19 - 2
3-37089174-G-A c.1896G>A p.Glu632Glu Synonymous 16/19 - 1
3-37089175-G-T c.1896+1G>T - IntronicSNV - 16/18 1
3-37089176-T-C c.1896+2T>C - IntronicSNV - 16/18 1
3-37089179-G-A c.1896+5G>A - IntronicSNV - 16/18 1
3-37090006-A-G c.1897-2A>G - IntronicSNV - 16/18 1
3-37090009-GAAGGGAACCTGATTGGATTACCCCTTCTGATTGACAACTATGTGCCCCCTTTGGAGGGA-G c.1898_1956del p.Glu633Alafs*11 InFrameDeletion 17/19 - 2
3-37090011-G-A c.1900G>A p.Gly634Arg Missense 17/19 - 1
3-37090016-C-G c.1905C>G p.Asn635Lys Missense 17/19 - 1
3-37090018-T-C c.1907T>C p.Leu636Pro Missense 17/19 - 2
3-37090023-G-A c.1912G>A p.Gly638Arg Missense 17/19 - 1
3-37090029-C-A c.1918C>A p.Pro640Thr Missense 17/19 - 3
3-37090029-C-T c.1918C>T p.Pro640Ser Missense 17/19 - 8
3-37090030-C-T c.1919C>T p.Pro640Leu Missense 17/19 - 7
3-37090037-G-GG c.1926dup p.Ile643Aspfs*2 Frameshift 17/19 - 1
3-37090039-T-TG c.1928_1929insG p.Ile643Metfs*2 Frameshift 17/19 - 1
3-37090048-A-G c.1937A>G p.Tyr646Cys Missense 17/19 - 9
3-37090050-G-A c.1939G>A p.Val647Met Missense 17/19 - 1
3-37090053-C-T c.1942C>T p.Pro648Ser Missense 17/19 - 8
3-37090054-C-T c.1943C>T p.Pro648Leu Missense 17/19 - 3
3-37090069-T-G c.1958T>G p.Leu653Arg Missense 17/19 - 3
3-37090070-G-T c.1959G>T p.Leu653Leu Synonymous 17/19 - 4
3-37090072-C-T c.1961C>T p.Pro654Leu Missense 17/19 - 2
3-37090074-A-G c.1963A>G p.Ile655Val Missense 17/19 - 4
3-37090075-T-C c.1964T>C p.Ile655Thr Missense 17/19 - 1
3-37090086-C-T c.1975C>T p.Arg659* Nonsense 17/19 - 10
3-37090087-G-A c.1976G>A p.Arg659Gln Missense 17/19 - 7
3-37090087-G-C c.1976G>C p.Arg659Pro Missense 17/19 - 7
3-37090087-G-T c.1976G>T p.Arg659Leu Missense 17/19 - 4
3-37090095-A-C c.1984A>C p.Thr662Pro Missense 17/19 - 3
3-37090099-A-C c.1988A>C p.Glu663Ala Missense 17/19 - 3
3-37090099-A-G c.1988A>G p.Glu663Gly Missense 17/19 - 2
3-37090100-G-T c.1989G>T p.Glu663Asp Missense 17/19 - 5
3-37090101-G-A c.1989+1G>A - IntronicSNV - 17/18 1
3-37090274-C-T c.1990-121C>T - IntronicSNV - 17/18 4
3-37090394-G-A c.1990-1G>A - IntronicSNV - 17/18 2
3-37090403-G-A c.1998G>A p.Trp666* Nonsense 18/19 - 2
3-37090409-AA-A c.2004del p.Glu669Lysfs*114 Frameshift 18/19 - 1
3-37090410-G-A c.2005G>A p.Glu669Lys Missense 18/19 - 1
3-37090414-A-G c.2009A>G p.Lys670Arg Missense 18/19 - 1
3-37090424-TT-T c.2019del p.Phe673Leufs*110 Frameshift 18/19 - 1
3-37090425-G-A c.2020G>A p.Glu674Lys Missense 18/19 - 1
3-37090432-T-C c.2027T>C p.Leu676Pro Missense 18/19 - 4
3-37090432-T-G c.2027T>G p.Leu676Arg Missense 18/19 - 2
3-37090443-T-C c.2038T>C p.Cys680Arg Missense 18/19 - 3
3-37090443-ATGCGCTATGTTCTATTCCATCCGGAA-A c.2038_2063del p.Cys680Alafs*5 Frameshift 18/19 - 1
3-37090443-TG-AC c.2038_2039delinsAC p.Cys680Thr Missense 18/19 - 1
3-37090445-C-A c.2040C>A p.Cys680* Nonsense 18/19 - 2
3-37090445-C-T c.2040C>T p.Cys680Cys Synonymous 18/19 - 2
3-37090446-G-A c.2041G>A p.Ala681Thr Missense 18/19 - 25
3-37090447-C-T c.2042C>T p.Ala681Val Missense 18/19 - 2
3-37090449-TAT-T c.2044_2045del p.Met682Valfs*11 Frameshift 18/19 - 4
3-37090455-T-G c.2050T>G p.Tyr684Asp Missense 18/19 - 1
3-37090457-T-G c.2052T>G p.Tyr684* Nonsense 18/19 - 1
3-37090459-C-T c.2054C>T p.Ser685Phe Missense 18/19 - 1
3-37090464-C-T c.2059C>T p.Arg687Trp Missense 18/19 - 15
3-37090471-A-G c.2066A>G p.Gln689Arg Missense 18/19 - 2
3-37090479-T-C c.2074T>C p.Ser692Pro Missense 18/19 - 1
3-37090480-C-T c.2075C>T p.Ser692Phe Missense 18/19 - 1
3-37090481-CTG-C c.2076_2077del p.Glu693Glyfs*10 Frameshift 18/19 - 1
3-37090483-GAGGAGTCGACCCTCTCAGGCCAGCAGGTACAGTGGTGATGCACACTGGCACCCCAGGAC-G c.2078_2103+33del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 18/19 18/18 1
3-37090485-GA-TC c.2080_2081inv p.Glu694Ser Missense 18/19 - 1
3-37090485-G-T c.2080G>T p.Glu694* Nonsense 18/19 - 2
3-37090486-A-C c.2081A>C p.Glu694Ala Missense 18/19 - 3
3-37090488-T-C c.2083T>C p.Ser695Pro Missense 18/19 - 1
3-37090494-CC-C c.2089del p.Leu697Serfs*86 Frameshift 18/19 - 1
3-37090497-CTC-C c.2092_2093del p.Ser698Argfs*5 Frameshift 18/19 - 4
3-37090503-C-T c.2098C>T p.Gln700* Nonsense 18/19 - 1
3-37090506-C-T c.2101C>T p.Gln701* Nonsense 18/19 - 3
3-37090506-C-A c.2101C>A p.Gln701Lys Missense 18/19 - 8
3-37090508-G-C c.2103G>C p.Gln701His Missense 18/19 - 2
3-37090508-G-A c.2103G>A p.Gln701Gln Synonymous 18/19 - 1
3-37090509-G-T c.2103+1G>T - IntronicSNV - 18/18 2
3-37090509-G-C c.2103+1G>C - IntronicSNV - 18/18 2
3-37090509-G-A c.2103+1G>A - IntronicSNV - 18/18 3
3-37091976-G-C c.2104-1G>C - IntronicSNV - 18/18 1
3-37091987-CC-C c.2114del p.Pro705Leufs*78 Frameshift 19/19 - 2
3-37091990-GGCTCCATTCCAAAC-G c.2117_2130del p.Gly706Valfs*12 Frameshift 19/19 - 1
3-37092008-G-T c.2135G>T p.Trp712Leu Missense 19/19 - 2
3-37092013-TG-AC c.2140_2141delinsAC p.Trp714Thr Missense 19/19 - 1
3-37092014-G-A c.2141G>A p.Trp714* Nonsense 19/19 - 6
3-37092015-G-A c.2142G>A p.Trp714* Nonsense 19/19 - 2
3-37092019-G-A c.2146G>A p.Val716Met Missense 19/19 - 23
3-37092019-G-T c.2146G>T p.Val716Leu Missense 19/19 - 1
3-37092022-GG-G c.2149del p.Glu717Asnfs*66 Frameshift 19/19 - 1
3-37092025-C-T c.2152C>T p.His718Tyr Missense 19/19 - 11
3-37092025-CA-TG c.2152_2153inv p.His718Cys Missense 19/19 - 1
3-37092026-A-C c.2153A>C p.His718Pro Missense 19/19 - 2
3-37092026-A-AA c.2153dup p.His718Glnfs*5 Frameshift 19/19 - 1
3-37092028-A-AACAA c.2155_2156insACAA p.Ile719Asnfs*5 Frameshift 19/19 - 1
3-37092030-T-TT c.2157dup p.Val720Cysfs*3 Frameshift 19/19 - 1
3-37092034-T-C c.2161T>C p.Tyr721His Missense 19/19 - 1
3-37092041-C-A c.2168C>A p.Ala723Asp Missense 19/19 - 2
3-37092043-T-A c.2170T>A p.Leu724Met Missense 19/19 - 1
3-37092044-T-G c.2171T>G p.Leu724Trp Missense 19/19 - 1
3-37092046-C-T c.2173C>T p.Arg725Cys Missense 19/19 - 1
3-37092047-G-A c.2174G>A p.Arg725His Missense 19/19 - 3
3-37092053-A-T c.2180A>T p.His727Leu Missense 19/19 - 1
3-37092058-C-G c.2185C>G p.Leu729Val Missense 19/19 - 2
3-37092063-CT-C c.2190del p.Pro731Leufs*52 Frameshift 19/19 - 1
3-37092067-A-G c.2194A>G p.Lys732Glu Missense 19/19 - 1
3-37092067-A-T c.2194A>T p.Lys732* Nonsense 19/19 - 2
3-37092069-AA-A c.2196del p.Lys732Asnfs*51 Frameshift 19/19 - 1
3-37092070-C-T c.2197C>T p.His733Tyr Missense 19/19 - 1
3-37092079-G-T c.2206G>T p.Glu736* Nonsense 19/19 - 1
3-37092083-A-T c.2210A>T p.Asp737Val Missense 19/19 - 2
3-37092086-G-A c.2213G>A p.Gly738Glu Missense 19/19 - 2
3-37092096-TGCAGCTTGC-T c.2223_2231del p.Gln742_Ala744del InFrameDeletion 19/19 - 1
3-37092097-GC-G c.2224del p.Gln742Serfs*41 Frameshift 19/19 - 1
3-37092097-C-T c.2224C>T p.Gln742* Nonsense 19/19 - 2
3-37092109-CCTGCCTGATCTA-C c.2236_2247del p.Leu746_Leu749del InFrameDeletion 19/19 - 1
3-37092110-CT-C c.2237del p.Leu746Argfs*37 Frameshift 19/19 - 1
3-37092112-C-CAGCCTGATACTATATCCTGCAGC c.2239_2240insAGCCTGATACTATATCCTGCAGC p.Pro747Glnfs*44 Frameshift 19/19 - 1
3-37092118-TCTA-T c.2245_2247del p.Leu749del InFrameDeletion 19/19 - 1
3-37092119-T-A c.2246T>A p.Leu749Gln Missense 19/19 - 3
3-37092119-T-C c.2246T>C p.Leu749Pro Missense 19/19 - 5
3-37092123-C-A c.2250C>A p.Tyr750* Nonsense 19/19 - 1
3-37092123-C-G c.2250C>G p.Tyr750* Nonsense 19/19 - 3
3-37092124-A-C c.2251A>C p.Lys751Gln Missense 19/19 - 2
3-37092125-A-G c.2252A>G p.Lys751Arg Missense 19/19 - 2
3-37092125-AAA-A c.2252_2253del p.Lys751Serfs*3 Frameshift 19/19 - 3
3-37092136-A-G c.2263A>G p.Arg755Gly Missense 19/19 - 1
3-37092136-A-T c.2263A>T p.Arg755Trp Missense 19/19 - 1
3-37092138-G-T c.2265G>T p.Arg755Ser Missense 19/19 - 2
3-37092138-G-C c.2265G>C p.Arg755Ser Missense 19/19 - 2
3-37092245-G-T c.*101G>T - 3-UTRSNV 19/19 - 1
3-37092245-G-A c.*101G>A - 3-UTRSNV 19/19 - 1