DMD dystrophin

Canonical transcript: NM_004006

1021 unique variant annotations were identified in 319 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
X-31144764-T-A c.11041A>T p.Arg3681* Nonsense 78/79 - 1
X-31152311-C-A c.10922G>T p.Gly3641Val Missense 77/79 - 1
X-31164419-G-T c.10910C>A p.Ser3637* Nonsense 76/79 - 1
X-31164440-TC-T c.10889del p.Arg3630Glnfs*27 Frameshift 76/79 - 1
X-31164441-G-A c.10888C>T p.Arg3630* Nonsense 76/79 - 2
X-31164456-G-A c.10873C>T p.Gln3625* Nonsense 76/79 - 1
X-31165350-G-C c.10797+42C>G - IntronicSNV - 75/78 1
X-31165397-C-A c.10792G>T p.Glu3598* Nonsense 75/79 - 1
X-31165406-G-A c.10783C>T p.Gln3595* Nonsense 75/79 - 1
X-31165430-C-A c.10759G>T p.Glu3587* Nonsense 75/79 - 2
X-31165484-T-A c.10705A>T p.Lys3569* Nonsense 75/79 - 1
X-31165538-G-A c.10651C>T p.Gln3551* Nonsense 75/79 - 1
X-31165569-C-T c.10620G>A p.Pro3540Pro Synonymous 75/79 - 1
X-31165579-G-T c.10610C>A p.Ser3537Tyr Missense 75/79 - 1
X-31165580-A-T c.10609T>A p.Ser3537Thr Missense 75/79 - 1
X-31165580-GA-G c.10609del p.Ser3537Profs*9 Frameshift 75/79 - 1
X-31165612-C-T c.10577G>A p.Arg3526His Missense 75/79 - 1
X-31165622-C-A c.10567G>T p.Glu3523* Nonsense 75/79 - 1
X-31187567-C-A c.10546G>T p.Glu3516* Nonsense 74/79 - 1
X-31187570-C-A c.10543G>T p.Glu3515* Nonsense 74/79 - 1
X-31187605-TCT-T c.10509_10510del p.Glu3505Alafs*9 Frameshift 74/79 - 1
X-31187613-ACT-TGA c.10498_10500delinsTCA p.Ser3500Ser Nonsense 74/79 - 2
X-31187613-CAC-C c.10500_10501del p.Ser3500Argfs*14 Frameshift 74/79 - 1
X-31187618-C-A c.10495G>T p.Glu3499* Nonsense 74/79 - 1
X-31187648-G-A c.10465C>T p.Arg3489Cys Missense 74/79 - 1
X-31187659-CA-C c.10454del p.Leu3485Argfs*11 Frameshift 74/79 - 2
X-31187659-CAG-C c.10453_10454del p.Leu3485Glufs*5 Frameshift 74/79 - 2
X-31187665-G-GG c.10453dup p.Leu3485Profs*6 Frameshift 74/79 - 3
X-31187665-GG-G c.10453del p.Leu3485* Frameshift 74/79 - 1
X-31187684-G-A c.10429C>T p.Gln3477* Nonsense 74/79 - 1
X-31187685-G-A c.10428C>T p.Cys3476Cys Synonymous 74/79 - 1
X-31187701-A-T c.10412T>A p.Leu3471* Nonsense 74/79 - 1
X-31187707-T-TT c.10406dup p.His3469Glnfs*22 Frameshift 74/79 - 1
X-31187711-C-A c.10402G>T p.Glu3468* Nonsense 74/79 - 1
X-31187716-TC-CG c.10396_10397delinsCG p.Asp3466Arg Missense 74/79 - 1
X-31190473-A-C c.10386T>G p.Asn3462Lys Missense 73/79 - 1
X-31190473-A-T c.10386T>A p.Asn3462Lys Missense 73/79 - 1
X-31190473-CA-C c.10386del p.Asn3462Lysfs*4 Frameshift 73/79 - 1
X-31190497-A-T c.10362T>A p.Tyr3454* Nonsense 73/79 - 1
X-31190526-C-T c.10333G>A p.Ala3445Thr Missense 73/79 - 1
X-31191664-A-C c.10320T>G p.Tyr3440* Nonsense 72/79 - 1
X-31191664-A-T c.10320T>A p.Tyr3440* Nonsense 72/79 - 1
X-31191680-G-T c.10304C>A p.Ser3435* Nonsense 72/79 - 1
X-31191705-G-A c.10279C>T p.Gln3427* Nonsense 72/79 - 2
X-31196048-C-T c.10262+1G>A - IntronicSNV - 71/78 1
X-31196076-CA-C c.10235del p.Leu3412Argfs*7 Frameshift 71/79 - 1
X-31196077-AGAGTA-A c.10231_10235del p.Thr3411Aspfs*20 Frameshift 71/79 - 1
X-31196785-C-T c.10223+1G>A - IntronicSNV - 70/78 1
X-31196790-C-A c.10219G>T p.Glu3407* Nonsense 70/79 - 2
X-31196838-G-A c.10171C>T p.Arg3391* Nonsense 70/79 - 9
X-31196868-G-A c.10141C>T p.Arg3381* Nonsense 70/79 - 10
X-31196874-T-A c.10135A>T p.Lys3379* Nonsense 70/79 - 1
X-31196901-G-A c.10108C>T p.Arg3370* Nonsense 70/79 - 5
X-31196907-C-A c.10102G>T p.Asp3368Tyr Missense 70/79 - 1
X-31196909-TTCT-T c.10101_10103del p.Glu3367del InFrameDeletion 70/79 - 4
X-31198485-A-G c.10086+2T>C - IntronicSNV - 69/78 1
X-31198486-C-T c.10086+1G>A - IntronicSNV - 69/78 1
X-31198540-G-A c.10033C>T p.Arg3345* Nonsense 69/79 - 3
X-31198554-C-T c.10019G>A p.Cys3340Tyr Missense 69/79 - 3
X-31198555-A-T c.10018T>A p.Cys3340Ser Missense 69/79 - 1
X-31198554-C-G c.10019G>C p.Cys3340Ser Missense 69/79 - 1
X-31198562-G-C c.10011C>G p.Cys3337Trp Missense 69/79 - 2
X-31198563-C-T c.10010G>A p.Cys3337Tyr Missense 69/79 - 1
X-31198570-C-G c.10003G>C p.Asp3335His Missense 69/79 - 3
X-31198595-G-C c.9978C>G p.Tyr3326* Nonsense 69/79 - 1
X-31198599-C-A c.9975-1G>T - IntronicSNV - 68/78 1
X-31200680-A-T c.9974+175T>A - IntronicSNV - 68/78 1
X-31200871-G-A c.9958C>T p.Pro3320Ser Missense 68/79 - 1
X-31200873-C-T c.9956G>A p.Cys3319Tyr Missense 68/79 - 1
X-31200877-TCT-T c.9953_9954del p.Glu3318Valfs*15 Frameshift 68/79 - 1
X-31200882-C-T c.9947G>A p.Cys3316Tyr Missense 68/79 - 1
X-31200891-C-A c.9938G>T p.Cys3313Phe Missense 68/79 - 3
X-31200891-C-T c.9938G>A p.Cys3313Tyr Missense 68/79 - 1
X-31200892-A-G c.9937T>C p.Cys3313Arg Missense 68/79 - 1
X-31200894-T-G c.9935A>C p.Lys3312Thr Missense 68/79 - 1
X-31200895-T-G c.9934A>C p.Lys3312Gln Missense 68/79 - 1
X-31200933-T-C c.9896A>G p.His3299Arg Missense 68/79 - 1
X-31200978-C-T c.9851G>A p.Trp3284* Nonsense 68/79 - 3
X-31201013-A-AA c.9816dup p.Lys3273* Nonsense 68/79 - 1
X-31201021-C-G c.9808G>C p.Ala3270Pro Missense 68/79 - 2
X-31219364-G-A c.9807+2714C>T - IntronicSNV - 67/78 1
X-31222135-CTTC-C c.9749_9751del p.Glu3250del InFrameDeletion 67/79 - 1
X-31222163-AGA-A c.9722_9723del p.Ser3241Tyrfs*9 Frameshift 67/79 - 2
X-31222174-GAAG-G c.9711_9713del p.Leu3238del InFrameDeletion 67/79 - 2
X-31222196-GT-G c.9689del p.Asp3230Alafs*53 Frameshift 67/79 - 1
X-31222203-A-G c.9682T>C p.Phe3228Leu Missense 67/79 - 2
X-31222234-G-T c.9651C>A p.Tyr3217* Nonsense 67/79 - 1
X-31224684-A-G c.9649+15T>C - IntronicSNV - 66/78 1
X-31224703-G-T c.9645C>A p.Tyr3215* Nonsense 66/79 - 1
X-31224727-TA-T c.9621del p.Cys3207* Frameshift 66/79 - 1
X-31224780-G-A c.9568C>T p.Arg3190* Nonsense 66/79 - 9
X-31224784-C-G c.9564G>C p.Thr3188Thr Synonymous 66/79 - 1
X-31224784-C-A c.9564G>T p.Thr3188Thr Synonymous 66/79 - 1
X-31224784-C-T c.9564G>A p.Thr3188Thr Synonymous 66/79 - 1
X-31224786-T-A c.9564-2A>T - IntronicSNV - 65/78 1
X-31224881-G-A c.9564-97C>T - IntronicSNV - 65/78 1
X-31224994-A-T c.9564-210T>A - IntronicSNV - 65/78 1
X-31224994-A-G c.9564-210T>C - IntronicSNV - 65/78 1
X-31225210-A-C c.9564-426T>G - IntronicSNV - 65/78 1
X-31225211-A-C c.9564-427T>G - IntronicSNV - 65/78 1
X-31226400-T-C c.9563+1215A>G - IntronicSNV - 65/78 1
X-31227614-C-T c.9563+1G>A - IntronicSNV - 65/78 2
X-31227618-T-C c.9560A>G p.Asp3187Gly Missense 65/79 - 1
X-31227719-AA-A c.9461del p.Leu3154* Frameshift 65/79 - 1
X-31227719-AACAA-A c.9459_9462del p.Cys3153* Frameshift 65/79 - 2
X-31227758-TTT-T c.9421_9422del p.Asn3141* Frameshift 65/79 - 1
X-31227798-G-C c.9380C>G p.Ser3127* Nonsense 65/79 - 2
X-31227818-T-G c.9362-2A>C - IntronicSNV - 64/78 1
X-31241169-AA-A c.9358del p.Cys3120Alafs*5 Frameshift 64/79 - 1
X-31241188-G-A c.9337C>T p.Arg3113* Nonsense 64/79 - 5
X-31270444-G-A c.9286+8628C>T - IntronicSNV - 63/78 1
X-31277151-C-T c.9286+1921G>A - IntronicSNV - 63/78 1
X-31279081-G-A c.9277C>T p.Gln3093* Nonsense 63/79 - 1
X-31279418-T-C c.9225-285A>G - IntronicSNV - 62/78 1
X-31279780-T-C c.9225-647A>G - IntronicSNV - 62/78 1
X-31286408-A-G c.9225-7275T>C - IntronicSNV - 62/78 1
X-31341714-C-T c.9224+1G>A - IntronicSNV - 62/78 1
X-31341736-GTTTG-G c.9204_9207del p.Asn3068Lysfs*20 Frameshift 62/79 - 7
X-31341775-G-C c.9164C>G p.Thr3055Arg Missense 62/79 - 1
X-31341776-GCTG-G c.9164-2_9164del - SpliceAcceptorDeletion - 61/78 2
X-31341777-T-C c.9164-2A>G - IntronicSNV - 61/78 1
X-31342127-A-G c.9164-352T>C - IntronicSNV - 61/78 1
X-31348807-G-T c.9164-7032C>A - IntronicSNV - 61/78 1
X-31348807-G-A c.9164-7032C>T - IntronicSNV - 61/78 1
X-31366671-A-C c.9163+2T>G - IntronicSNV - 61/78 1
X-31366672-C-T c.9163+1G>A - IntronicSNV - 61/78 1
X-31366682-A-AA c.9156dup p.Leu3053Serfs*45 Frameshift 61/79 - 1
X-31366696-G-GT c.9139_9140insA p.Pro3047Hisfs*51 Frameshift 61/79 - 1
X-31366702-A-G c.9134T>C p.Phe3045Ser Missense 61/79 - 1
X-31366736-G-A c.9100C>T p.Arg3034* Nonsense 61/79 - 7
X-31382270-C-A c.9085-15519G>T - IntronicSNV - 60/78 1
X-31462610-C-T c.9072G>A p.Trp3024* Nonsense 60/79 - 1
X-31462738-G-A c.8944C>T p.Arg2982* Nonsense 60/79 - 5
X-31496230-TTTCT-T c.8929_8932del p.Lys2977Serfs*11 Frameshift 59/79 - 1
X-31496250-GAGAG-G c.8910_8913del p.Leu2971Lysfs*17 Frameshift 59/79 - 1
X-31496288-C-A c.8872G>T p.Gly2958* Nonsense 59/79 - 1
X-31496291-T-TT c.8870dup p.Ser2959Ilefs*11 Frameshift 59/79 - 1
X-31496350-C-T c.8810G>A p.Gln2937Gln Missense 59/79 - 2
X-31496360-C-A c.8800G>T p.Glu2934* Nonsense 59/79 - 1
X-31496384-G-A c.8776C>T p.Gln2926* Nonsense 59/79 - 1
X-31496385-C-T c.8775G>A p.Trp2925* Nonsense 59/79 - 1
X-31496386-C-T c.8774G>A p.Trp2925* Nonsense 59/79 - 1
X-31496398-T-C c.8762A>G p.His2921Arg Missense 59/79 - 3
X-31496415-C-T c.8745G>A p.Trp2915* Nonsense 59/79 - 1
X-31496416-C-T c.8744G>A p.Trp2915* Nonsense 59/79 - 1
X-31496420-C-A c.8740G>T p.Glu2914* Nonsense 59/79 - 2
X-31496426-T-C c.8734A>G p.Asn2912Asp Missense 59/79 - 5
X-31496431-T-A c.8729A>T p.Glu2910Val Missense 59/79 - 6
X-31496431-T-C c.8729A>G p.Glu2910Gly Missense 59/79 - 1
X-31496447-G-A c.8713C>T p.Arg2905* Nonsense 59/79 - 12
X-31496468-G-A c.8692C>T p.Gln2898* Nonsense 59/79 - 1
X-31496480-C-A c.8680G>T p.Glu2894* Nonsense 59/79 - 1
X-31496492-C-A c.8669-1G>T - IntronicSNV - 58/78 1
X-31496493-T-A c.8669-2A>T - IntronicSNV - 58/78 1
X-31497097-T-A c.8668+3A>T - IntronicSNV - 58/78 2
X-31497100-C-T c.8668G>A p.Glu2890Lys Missense 58/79 - 1
X-31497160-G-A c.8608C>T p.Arg2870* Nonsense 58/79 - 6
X-31497161-T-TT c.8607dup p.Arg2870Thrfs*25 Frameshift 58/79 - 1
X-31497206-T-A c.8562A>T p.Glu2854Asp Missense 58/79 - 1
X-31497206-T-G c.8562A>C p.Glu2854Asp Missense 58/79 - 1
X-31497213-T-C c.8555A>G p.Lys2852Arg Missense 58/79 - 1
X-31497369-T-A c.8548-149A>T - IntronicSNV - 57/78 1
X-31497369-T-C c.8548-149A>G - IntronicSNV - 57/78 1
X-31515032-C-T c.8420G>A p.Trp2807* Nonsense 57/79 - 1
X-31515035-T-C c.8417A>G p.Gln2806Arg Missense 57/79 - 1
X-31515058-GGA-AAG c.8392_8394delinsCTT p.Ser2798Leu Missense 57/79 - 1
X-31515138-AGTACAATAAACCTATTGTGAACTACAA-A c.8391-101_8391-75del - IntronicDeletion - 56/78 1
X-31515889-CAGAAAACAAAGAGGAAACGCAGTGTTAGCAAAGCTTTATCTTCAGGTAAATTAGAAATT-C c.8391-886_8391-828del - IntronicDeletion - 56/78 1
X-31518931-C-A c.8391-3870G>T - IntronicSNV - 56/78 1
X-31525224-A-G c.8390+174T>C - IntronicSNV - 56/78 1
X-31525416-TTT-T c.8374_8375del p.Lys2792Valfs*5 Frameshift 56/79 - 1
X-31525417-T-A c.8371A>T p.Lys2791* Nonsense 56/79 - 1
X-31525435-T-A c.8353A>T p.Lys2785* Nonsense 56/79 - 1
X-31525455-C-T c.8333G>A p.Arg2778His Missense 56/79 - 1
X-31525489-C-A c.8299G>T p.Glu2767* Nonsense 56/79 - 1
X-31525529-TG-T c.8259del p.His2753Glnfs*11 Frameshift 56/79 - 1
X-31525564-G-A c.8224C>T p.Gln2742* Nonsense 56/79 - 1
X-31525572-T-C c.8218-2A>G - IntronicSNV - 55/78 1
X-31540240-T-C c.8218-14670A>G - IntronicSNV - 55/78 1
X-31577462-C-A c.8218-51892G>T - IntronicSNV - 55/78 1
X-31589214-A-G c.8217+56576T>C - IntronicSNV - 55/78 1
X-31589214-A-T c.8217+56576T>A - IntronicSNV - 55/78 1
X-31613687-C-A c.8217+32103G>T - IntronicSNV - 55/78 1
X-31627738-T-C c.8217+18052A>G - IntronicSNV - 55/78 1
X-31645785-C-T c.8217+5G>A - IntronicSNV - 55/78 1
X-31645791-T-TA c.8215_8216insT p.Gln2739Leufs*6 SpliceDonorInsertion 55/79 - 1
X-31645792-G-GA c.8214_8215insT p.Gln2739Serfs*6 Frameshift 55/79 - 1
X-31645810-C-A c.8197G>T p.Glu2733* Nonsense 55/79 - 1
X-31645831-C-A c.8176G>T p.Glu2726* Nonsense 55/79 - 1
X-31645844-C-A c.8163G>T p.Lys2721Asn Missense 55/79 - 1
X-31645902-A-AA c.8106dup p.Ala2703Cysfs*7 Frameshift 55/79 - 1
X-31645925-G-GG c.8086dup p.Leu2696Profs*14 Frameshift 55/79 - 1
X-31645926-A-G c.8081T>C p.Phe2694Ser Missense 55/79 - 1
X-31645969-G-A c.8038C>T p.Arg2680* Nonsense 55/79 - 5
X-31645980-C-G c.8028-1G>C - IntronicSNV - 54/78 1
X-31645981-T-C c.8028-2A>G - IntronicSNV - 54/78 1
X-31656291-T-G c.8028-10312A>C - IntronicSNV - 54/78 1
X-31664815-T-C c.8027+11292A>G - IntronicSNV - 54/78 1
X-31676105-A-G c.8027+2T>C - IntronicSNV - 54/78 1
X-31676106-C-T c.8027+1G>A - IntronicSNV - 54/78 1
X-31676107-CC-C c.8027+1del - Frameshift 54/79 - 1
X-31676124-C-T c.8010G>A p.Trp2670* Nonsense 54/79 - 1
X-31676235-C-T c.7899G>A p.Trp2633* Nonsense 54/79 - 1
X-31676236-C-T c.7898G>A p.Trp2633* Nonsense 54/79 - 1
X-31676260-TG-AC c.7873_7874delinsGT p.Gln2625Val Missense 54/79 - 1
X-31696892-G-A c.7872+600C>T - IntronicSNV - 53/78 1
X-31697509-T-TT c.7858dup p.Ile2620Asnfs*23 Frameshift 53/79 - 1
X-31697542-C-A c.7822G>T p.Glu2608* Nonsense 53/79 - 1
X-31697572-G-A c.7792C>T p.Gln2598* Nonsense 53/79 - 2
X-31697609-C-T c.7755G>A p.Trp2585* Nonsense 53/79 - 1
X-31697644-G-A c.7720C>T p.Gln2574* Nonsense 53/79 - 2
X-31697659-G-A c.7705C>T p.Gln2569* Nonsense 53/79 - 1
X-31697671-G-A c.7693C>T p.Gln2565* Nonsense 53/79 - 1
X-31697676-TT-T c.7689del p.Val2564Tyrfs*12 Frameshift 53/79 - 1
X-31697681-C-T c.7683G>A p.Trp2561* Nonsense 53/79 - 1
X-31697692-G-A c.7672C>T p.Gln2558* Nonsense 53/79 - 1
X-31697704-C-T c.7661-1G>A - IntronicSNV - 52/78 1
X-31697705-T-G c.7661-2A>C - IntronicSNV - 52/78 1
X-31737563-T-C c.7660+10185A>G - IntronicSNV - 52/78 1
X-31740622-AGACATATACAAAATAAAAAGCTAAAGGGTTCATTAGACCTACAAGGCAAACAGTAATGG-A c.7660+7068_7660+7126del - Unclassified - 52/78 1
X-31747748-T-G c.7660A>C p.Ile2554Leu Missense 52/79 - 1
X-31747749-TTCG-T c.7657_7659del p.Arg2553del InFrameDeletion 52/79 - 1
X-31747751-G-A c.7657C>T p.Arg2553* Nonsense 52/79 - 5
X-31747832-G-A c.7576C>T p.Gln2526* Nonsense 52/79 - 1
X-31747844-G-A c.7564C>T p.Gln2522* Nonsense 52/79 - 1
X-31747863-TGC-TGT c.7543delinsA p.Ala2515Thr Missense 52/79 - 1
X-31747864-GC-CA c.7543_7544delinsTG p.Ala2515* Missense 52/79 - 1
X-31778126-C-G c.7542+13951G>C - IntronicSNV - 51/78 1
X-31792079-TTCTGCTTGATGATCATCTCGTTGATATCCTCAAGGTCACCCACCATCACCCTCTGTGAT-T c.7483_7541del p.Ser2495Glyfs*33 InFrameDeletion 51/79 - 1
X-31792096-T-C c.7523A>G p.Glu2508Gly Missense 51/79 - 1
X-31792096-CT-C c.7523del p.Glu2508Glyfs*2 Frameshift 51/79 - 1
X-31792107-CC-C c.7513del p.Asp2505Ilefs*5 Frameshift 51/79 - 1
X-31792113-GGTCACCCACC-G c.7497_7506del p.Met2499Ilefs*8 Frameshift 51/79 - 1
X-31792148-G-A c.7471C>T p.Gln2491* Nonsense 51/79 - 1
X-31792164-C-T c.7455G>A p.Trp2485* Nonsense 51/79 - 1
X-31792182-C-T c.7437G>A p.Trp2479* Nonsense 51/79 - 1
X-31792189-CCG-C c.7429_7430del p.Arg2477Glyfs*13 Frameshift 51/79 - 1
X-31792217-CC-AT c.7401_7402delinsAT p.Glu2468* Missense 51/79 - 1
X-31792228-GG-G c.7392del p.Leu2465* Frameshift 51/79 - 2
X-31792269-AAC-TAA c.7348_7350delinsTTA p.Val2450Leu Nonsense 51/79 - 1
X-31792272-C-CC c.7348dup p.Val2450Glyfs*3 Frameshift 51/79 - 2
X-31792289-G-A c.7330C>T p.Leu2444Leu Synonymous 51/79 - 1
X-31792292-T-TT c.7327dup p.Thr2443Asnfs*10 Frameshift 51/79 - 2
X-31838024-C-T c.7309+68G>A - IntronicSNV - 50/78 1
X-31838087-C-T c.7309+5G>A - IntronicSNV - 50/78 1
X-31838093-AGGCTCCAA-A c.7302_7309del p.Gly2435Serfs*15 SpliceDonorDeletion 50/79 - 1
X-31838136-TG-T c.7265del p.Ala2422Glufs*6 Frameshift 50/79 - 1
X-31838199-C-T c.7202G>A p.Arg2401Lys Missense 50/79 - 1
X-31854782-G-A c.7200+53C>T - IntronicSNV - 49/78 2
X-31854782-G-C c.7200+53C>G - IntronicSNV - 49/78 2
X-31854782-G-T c.7200+53C>A - IntronicSNV - 49/78 2
X-31854836-CTTC-C c.7198_7200del p.Lys2400del InFrameDeletion 49/79 - 1
X-31854852-C-T c.7183G>A p.Ala2395Thr Missense 49/79 - 1
X-31854930-C-A c.7105G>T p.Glu2369* Nonsense 49/79 - 2
X-31854936-C-T c.7099G>A p.Glu2367Lys Missense 49/79 - 1
X-31893304-C-T c.7098+1G>A - IntronicSNV - 48/78 1
X-31893305-CCTT-C c.7096_7098del p.Gln2366del InFrameDeletion 48/79 - 1
X-31893307-TTAACGTCAAATGGTCCTTCTTGGTTTGGTTGGTTATAAATTTCCAACTGATTCCTAATA-T c.7038_7096del p.Ile2347Glyfs*3 Unclassified 48/79 - 1
X-31893372-A-T c.7031T>A p.Leu2344* Nonsense 48/79 - 1
X-31893374-C-T c.7029G>A p.Trp2343* Nonsense 48/79 - 1
X-31893387-T-C c.7016A>G p.His2339Arg Missense 48/79 - 1
X-31893397-G-A c.7006C>T p.Gln2336* Nonsense 48/79 - 1
X-31893411-T-C c.6992A>G p.Glu2331Gly Missense 48/79 - 1
X-31893423-TT-T c.6986del p.Lys2329Serfs*9 Frameshift 48/79 - 2
X-31893424-C-A c.6979G>T p.Glu2327* Nonsense 48/79 - 1
X-31893448-G-A c.6955C>T p.Gln2319* Nonsense 48/79 - 2
X-31893460-C-A c.6943G>T p.Glu2315* Nonsense 48/79 - 1
X-31893473-CAGGTAAAGCTC-C c.6923_6933del p.Ala2308Glufs*6 Frameshift 48/79 - 1
X-31893488-AAC-CAA c.6913_6915delinsTTG p.Val2305Leu Missense 48/79 - 1
X-31893490-C-A c.6913G>T p.Val2305Phe Missense 48/79 - 1
X-31893491-C-T c.6913-1G>A - IntronicSNV - 47/78 1
X-31893862-C-T c.6913-372G>A - IntronicSNV - 47/78 1
X-31897527-A-C c.6913-4037T>G - IntronicSNV - 47/78 2
X-31921313-AAAAAGTACCAATGAGATATTTTATTTTTTTCATACTTAGGTTTTGTAATTTGGTGAGTG-A c.6912+26342_6912+26400del - Unclassified - 47/78 1
X-31921350-TAGGTTTTGTAATTTGGTGAGTGTTTTATACTTACAGCACATTTCAGTGGGGACTAGCCA-T c.6912+26305_6912+26363del - Unclassified - 47/78 1
X-31944967-C-T c.6912+2746G>A - IntronicSNV - 47/78 1
X-31947715-TTTATCCACTGGAGATTTGTCTGCTTGAGCTTATTTTCAAGTTTATCTTGCTCTTCTGGG-T c.6852_6910del p.Ser2284Argfs*8 InFrameDeletion 47/79 - 1
X-31947719-C-T c.6906G>A p.Trp2302* Nonsense 47/79 - 1
X-31947757-T-A c.6868A>T p.Lys2290* Nonsense 47/79 - 1
X-31947769-C-A c.6856G>T p.Glu2286* Nonsense 47/79 - 1
X-31947776-T-TT c.6850dup p.Ser2284Lysfs*7 Frameshift 47/79 - 1
X-31947821-GTTTG-G c.6804_6807del p.Lys2268Asnfs*2 Frameshift 47/79 - 3
X-31947834-CT-C c.6791del p.Gln2264Argfs*7 Frameshift 47/79 - 1
X-31947835-G-A c.6790C>T p.Gln2264* Nonsense 47/79 - 1
X-31947860-GTAA-G c.6763_6765del p.Leu2256del InFrameDeletion 47/79 - 1
X-31950056-G-A c.6762+141C>T - IntronicSNV - 46/78 1
X-31950220-T-A c.6739A>T p.Lys2247* Nonsense 46/79 - 1
X-31950281-C-T c.6678G>A p.Trp2226* Nonsense 46/79 - 1
X-31950322-AA-A c.6638del p.Leu2213Cysfs*8 Frameshift 46/79 - 1
X-31950337-C-A c.6622G>T p.Glu2208* Nonsense 46/79 - 1
X-31950342-AG-GC c.6616_6617delinsGC p.Leu2206Ala Missense 46/79 - 1
X-31950344-C-G c.6615G>C p.Arg2205Ser Missense 46/79 - 1
X-31950344-C-A c.6615G>T p.Arg2205Ser Missense 46/79 - 1
X-31969744-T-G c.6614+16712A>C - IntronicSNV - 45/78 1
X-31983146-C-A c.6614+3310G>T - IntronicSNV - 45/78 1
X-31986455-C-T c.6614+1G>A - IntronicSNV - 45/78 2
X-31986471-G-C c.6599C>G p.Ser2200* Nonsense 45/79 - 1
X-31986492-CTGCCA-C c.6574_6578del p.Trp2192Glyfs*29 Frameshift 45/79 - 1
X-31986520-T-A c.6550A>T p.Lys2184* Nonsense 45/79 - 2
X-31986523-C-A c.6547G>T p.Glu2183* Nonsense 45/79 - 1
X-31986598-ACA-A c.6472_6473del p.Val2158Cysfs*64 Frameshift 45/79 - 1
X-31986607-G-A c.6463C>T p.Arg2155Trp Missense 45/79 - 2
X-31986624-T-TT c.6446dup p.Asp2150Glyfs*73 Frameshift 45/79 - 1
X-31986627-A-G c.6443T>C p.Leu2148Pro Missense 45/79 - 1
X-31986629-TTC-AAC c.6440_6441delinsTT p.Glu2147Val Missense 45/79 - 1
X-31986631-C-A c.6439G>T p.Glu2147* Nonsense 45/79 - 1
X-31994504-AA-A c.6439-7871del - IntronicDeletion - 44/78 1
X-31994849-AA-A c.6439-8216del - IntronicDeletion - 44/78 1
X-32015376-A-G c.6439-28745T>C - IntronicSNV - 44/78 1
X-32034270-C-T c.6439-47639G>A - IntronicSNV - 44/78 1
X-32079954-G-A c.6439-93323C>T - IntronicSNV - 44/78 1
X-32092366-C-T c.6439-105735G>A - IntronicSNV - 44/78 1
X-32092380-T-C c.6439-105749A>G - IntronicSNV - 44/78 1
X-32118843-G-T c.6438+116190C>A - IntronicSNV - 44/78 1
X-32148441-C-T c.6438+86592G>A - IntronicSNV - 44/78 1
X-32150662-G-T c.6438+84371C>A - IntronicSNV - 44/78 1
X-32150662-G-A c.6438+84371C>T - IntronicSNV - 44/78 1
X-32186168-A-G c.6438+48865T>C - IntronicSNV - 44/78 1
X-32190697-G-T c.6438+44336C>A - IntronicSNV - 44/78 1
X-32235035-TTAAGATACCATTTGTATTTAGCATGTTCCCAATTCTCAGGAATTTGTGTCTTTCTGAGA-T c.6378_6436del p.Phe2126Leufs*77 InFrameDeletion 44/79 - 1
X-32235043-C-T c.6428G>A p.Trp2143* Nonsense 44/79 - 1
X-32235053-TT-T c.6420del p.Lys2140Asnfs*23 Frameshift 44/79 - 1
X-32235064-C-T c.6407G>A p.Trp2136* Nonsense 44/79 - 1
X-32235082-TGT-T c.6391_6392del p.Gln2131Asnfs*3 Frameshift 44/79 - 2
X-32235086-TTTCT-T c.6385_6388del p.Lys2129Hisfs*33 Frameshift 44/79 - 2
X-32235098-G-A c.6373C>T p.Gln2125* Nonsense 44/79 - 2
X-32235107-C-A c.6364G>T p.Glu2122* Nonsense 44/79 - 1
X-32235118-CT-C c.6353del p.Gln2118Argfs*3 Frameshift 44/79 - 1
X-32235119-G-A c.6352C>T p.Gln2118* Nonsense 44/79 - 1
X-32235133-AT-TA c.6337_6338delinsTA p.Ile2113* Nonsense 44/79 - 1
X-32235153-C-T c.6318G>A p.Trp2106* Nonsense 44/79 - 1
X-32235178-C-T c.6293G>A p.Arg2098Gln Missense 44/79 - 1
X-32235179-G-A c.6292C>T p.Arg2098* Nonsense 44/79 - 5
X-32254552-G-C c.6291-19372C>G - IntronicSNV - 43/78 1
X-32254552-G-A c.6291-19372C>T - IntronicSNV - 43/78 1
X-32274692-G-A c.6290+30954C>T - IntronicSNV - 43/78 1
X-32283492-G-C c.6290+22154C>G - IntronicSNV - 43/78 1
X-32287243-T-C c.6290+18403A>G - IntronicSNV - 43/78 1
X-32305646-C-A c.6290G>T p.Gly2097Val Missense 43/79 - 1
X-32305659-T-A c.6277A>T p.Lys2093* Nonsense 43/79 - 1
X-32305661-T-C c.6275A>G p.Tyr2092Cys Missense 43/79 - 1
X-32305677-T-A c.6259A>T p.Lys2087* Nonsense 43/79 - 1
X-32305704-G-A c.6232C>T p.Leu2078Phe Missense 43/79 - 1
X-32305733-GGC-TGGG c.6201_6203delinsCCCA p.Val2069Cysfs*14 Frameshift 43/79 - 1
X-32305734-GGCG-G c.6201_6203del p.Pro2068del InFrameDeletion 43/79 - 1
X-32305807-TATCT-T c.6128_6131del p.Asp2043Valfs*29 Frameshift 43/79 - 3
X-32305809-TC-T c.6127del p.Asp2043Ilefs*30 Frameshift 43/79 - 1
X-32305819-C-T c.6118-1G>A - IntronicSNV - 42/78 1
X-32305821-G-T c.6118-3C>A - IntronicSNV - 42/78 1
X-32325765-T-C c.6117+2434A>G - IntronicSNV - 42/78 1
X-32328200-CTTC-C c.6115_6117del p.Lys2039del InFrameDeletion 42/79 - 1
X-32328213-C-A c.6103G>T p.Glu2035* Nonsense 42/79 - 4
X-32328272-TT-T c.6045del p.Glu2015Aspfs*24 Frameshift 42/79 - 2
X-32328283-T-TT c.6033dup p.Leu2012Ilefs*11 Frameshift 42/79 - 1
X-32328291-G-A c.6025C>T p.Gln2009* Nonsense 42/79 - 1
X-32328293-G-T c.6023C>A p.Ser2008* Nonsense 42/79 - 1
X-32328328-C-T c.5988G>A p.Val1996Val Synonymous 42/79 - 1
X-32328331-A-C c.5985T>G p.Tyr1995* Nonsense 42/79 - 1
X-32345566-T-G c.5922+14651A>C - IntronicSNV - 41/78 1
X-32345566-T-A c.5922+14651A>T - IntronicSNV - 41/78 1
X-32352246-T-C c.5922+7971A>G - IntronicSNV - 41/78 1
X-32356321-C-T c.5922+3896G>A - IntronicSNV - 41/78 1
X-32358228-C-T c.5922+1989G>A - IntronicSNV - 41/78 1
X-32360217-CAAT-C c.5920_5922del p.Ile1974del InFrameDeletion 41/79 - 1
X-32360225-GC-G c.5914del p.Ala1972Hisfs*11 Frameshift 41/79 - 1
X-32360240-G-A c.5899C>T p.Arg1967* Nonsense 41/79 - 11
X-32360246-G-A c.5893C>T p.Gln1965* Nonsense 41/79 - 2
X-32360254-T-C c.5885A>G p.Lys1962Arg Missense 41/79 - 1
X-32360263-AATTTCCCGCCAGC-A c.5864_5876del p.Arg1955Leufs*24 Frameshift 41/79 - 1
X-32360272-C-T c.5867G>A p.Trp1956* Nonsense 41/79 - 1
X-32360271-C-T c.5868G>A p.Trp1956* Nonsense 41/79 - 1
X-32360303-C-A c.5836G>T p.Glu1946* Nonsense 41/79 - 1
X-32360304-C-A c.5835G>T p.Val1945Val Synonymous 41/79 - 1
X-32360312-T-C c.5827A>G p.Met1943Val Missense 41/79 - 1
X-32360339-TC-T c.5800del p.Glu1934Argfs*49 Frameshift 41/79 - 1
X-32360366-C-A c.5773G>T p.Glu1925* Nonsense 41/79 - 1
X-32360369-C-A c.5770G>T p.Glu1924* Nonsense 41/79 - 1
X-32360381-G-A c.5758C>T p.Gln1920* Nonsense 41/79 - 2
X-32360400-C-A c.5740-1G>T - IntronicSNV - 40/78 1
X-32361033-C-T c.5739+218G>A - IntronicSNV - 40/78 1
X-32361265-C-A c.5725G>T p.Glu1909* Nonsense 40/79 - 1
X-32361287-TGGCT-T c.5704_5707del p.Ser1902Tyrfs*10 Frameshift 40/79 - 1
X-32361300-TT-T c.5697del p.Lys1899Asnfs*2 Frameshift 40/79 - 1
X-32361337-G-A c.5653C>T p.Gln1885* Nonsense 40/79 - 1
X-32361343-T-A c.5647A>T p.Lys1883* Nonsense 40/79 - 1
X-32361344-G-C c.5646C>G p.Tyr1882* Nonsense 40/79 - 1
X-32361344-G-T c.5646C>A p.Tyr1882* Nonsense 40/79 - 1
X-32361353-C-T c.5637G>A p.Trp1879* Nonsense 40/79 - 1
X-32361354-C-T c.5636G>A p.Trp1879* Nonsense 40/79 - 1
X-32361358-G-A c.5632C>T p.Gln1878* Nonsense 40/79 - 2
X-32361384-C-T c.5606G>A p.Arg1869Lys Missense 40/79 - 1
X-32361387-TCTTT-T c.5602_5605del p.Arg1868Glufs*5 Frameshift 40/79 - 1
X-32361401-A-AA c.5591dup p.Leu1864Phefs*24 Frameshift 40/79 - 1
X-32363965-A-AAG c.5586+94_5586+95insCT - IntronicInsertion - 39/78 1
X-32364060-CCTT-C c.5584_5586del p.Lys1862del InFrameDeletion 39/79 - 1
X-32364083-G-A c.5563C>T p.Gln1855* Nonsense 39/79 - 1
X-32364104-T-A c.5542A>T p.Lys1848* Nonsense 39/79 - 1
X-32364113-C-A c.5533G>T p.Glu1845* Nonsense 39/79 - 2
X-32364116-G-A c.5530C>T p.Arg1844* Nonsense 39/79 - 4
X-32364143-G-A c.5503C>T p.Gln1835* Nonsense 39/79 - 1
X-32364158-T-A c.5488A>T p.Arg1830* Nonsense 39/79 - 1
X-32364161-G-C c.5485C>G p.Gln1829Glu Missense 39/79 - 1
X-32364161-G-A c.5485C>T p.Gln1829* Nonsense 39/79 - 1
X-32364166-A-T c.5480T>A p.Leu1827* Nonsense 39/79 - 2
X-32364194-C-A c.5452G>T p.Glu1818* Nonsense 39/79 - 1
X-32364198-C-G c.5449-1G>C - IntronicSNV - 38/78 1
X-32364897-G-A c.5449-700C>T - IntronicSNV - 38/78 1
X-32366523-CCAT-C c.5446_5448del p.Met1816del InFrameDeletion 38/79 - 1
X-32366527-T-C c.5444A>G p.Asp1815Gly Missense 38/79 - 1
X-32366562-C-CC c.5413dup p.Val1805Glyfs*10 Frameshift 38/79 - 2
X-32366564-G-A c.5407C>T p.Gln1803* Nonsense 38/79 - 2
X-32366567-G-A c.5404C>T p.Gln1802* Nonsense 38/79 - 3
X-32366573-C-A c.5398G>T p.Glu1800* Nonsense 38/79 - 1
X-32366600-G-A c.5371C>T p.Gln1791* Nonsense 38/79 - 1
X-32366607-T-TT c.5364dup p.Asp1789Argfs*7 Frameshift 38/79 - 1
X-32366860-A-C c.5326-215T>G - IntronicSNV - 37/78 1
X-32379148-TACCCATTTTTTAATATCT-T c.5325+1743_5325+1760del - IntronicDeletion - 37/78 1
X-32380905-CCTT-C c.5323_5325del p.Lys1775del InFrameDeletion 37/79 - 1
X-32380922-T-A c.5308A>T p.Arg1770* Nonsense 37/79 - 1
X-32380943-G-A c.5287C>T p.Arg1763* Nonsense 37/79 - 5
X-32380945-AT-A c.5285del p.His1762Leufs*19 Frameshift 37/79 - 1
X-32380967-G-GG c.5266dup p.Gln1756Profs*17 Frameshift 37/79 - 1
X-32380970-C-A c.5260G>T p.Glu1754* Nonsense 37/79 - 2
X-32380975-A-C c.5255T>G p.Leu1752* Nonsense 37/79 - 1
X-32380996-C-T c.5234G>A p.Arg1745His Missense 37/79 - 6
X-32381021-G-A c.5209C>T p.Gln1737* Nonsense 37/79 - 1
X-32381022-GGTCACGTGTAG-G c.5199_5209del p.Thr1734Serfs*10 Frameshift 37/79 - 2
X-32381067-C-G c.5163G>C p.Lys1721Asn Missense 37/79 - 2
X-32382713-C-A c.5140G>T p.Glu1714* Nonsense 36/79 - 1
X-32382718-T-TT c.5139dup p.Glu1714Argfs*5 Frameshift 36/79 - 1
X-32382756-TGT-T c.5100_5101del p.Leu1701Phefs*3 Frameshift 36/79 - 1
X-32382760-GC-CT c.5092_5093delinsAG p.Ala1698Ser Missense 36/79 - 1
X-32383146-A-T c.5016T>A p.Asn1672Lys Missense 35/79 - 1
X-32383160-C-A c.5002G>T p.Glu1668* Nonsense 35/79 - 1
X-32383166-G-A c.4996C>T p.Arg1666* Nonsense 35/79 - 4
X-32383182-C-T c.4980G>A p.Trp1660* Nonsense 35/79 - 2
X-32383183-C-T c.4979G>A p.Trp1660* Nonsense 35/79 - 2
X-32383214-C-A c.4948G>T p.Glu1650* Nonsense 35/79 - 1
X-32383292-G-A c.4870C>T p.Gln1624* Nonsense 35/79 - 1
X-32383308-TTT-T c.4856_4857del p.Lys1619Argfs*3 Frameshift 35/79 - 1
X-32383309-TT-T c.4857del p.Glu1620Argfs*9 Frameshift 35/79 - 1
X-32383315-G-C c.4847C>G p.Ala1616Gly Missense 35/79 - 1
X-32393558-G-A c.4845+5069C>T - IntronicSNV - 34/78 1
X-32393558-G-T c.4845+5069C>A - IntronicSNV - 34/78 1
X-32396824-G-T c.4845+1803C>A - IntronicSNV - 34/78 1
X-32398629-T-A c.4843A>T p.Lys1615* Nonsense 34/79 - 1
X-32398643-T-A c.4829A>T p.Glu1610Val Missense 34/79 - 1
X-32398663-C-CTTCC c.4809_4810insGAAG p.Pro1604Glufs*3 Frameshift 34/79 - 2
X-32398666-T-A c.4806A>T p.Gly1602Gly Synonymous 34/79 - 1
X-32398695-C-A c.4777G>T p.Glu1593* Nonsense 34/79 - 1
X-32398714-C-T c.4758G>A p.Trp1586* Nonsense 34/79 - 1
X-32398715-C-T c.4757G>A p.Trp1586* Nonsense 34/79 - 1
X-32398721-TGT-T c.4751_4752del p.Thr1584Argfs*17 Frameshift 34/79 - 1
X-32398726-AGA-A c.4746_4747del p.Leu1583Aspfs*18 Frameshift 34/79 - 2
X-32398743-G-A c.4729C>T p.Arg1577* Nonsense 34/79 - 5
X-32398779-G-A c.4693C>T p.Gln1565* Nonsense 34/79 - 2
X-32398782-G-A c.4690C>T p.Gln1564* Nonsense 34/79 - 1
X-32398795-TTAC-T c.4675_4677del p.Val1559del InFrameDeletion 34/79 - 1
X-32404249-A-G c.4674+178T>C - IntronicSNV - 33/78 1
X-32404445-A-T c.4656T>A p.Tyr1552* Nonsense 33/79 - 1
X-32404456-T-A c.4645A>T p.Lys1549* Nonsense 33/79 - 1
X-32404473-TT-T c.4630del p.Arg1544Glufs*2 Frameshift 33/79 - 2
X-32404518-CT-C c.4583del p.Gln1528Argfs*18 Frameshift 33/79 - 1
X-32404525-C-A c.4576G>T p.Gly1526* Nonsense 33/79 - 1
X-32404529-TC-T c.4572del p.Thr1525Leufs*21 Frameshift 33/79 - 1
X-32404531-T-A c.4570A>T p.Lys1524* Nonsense 33/79 - 1
X-32404543-C-A c.4558G>T p.Glu1520* Nonsense 33/79 - 1
X-32404560-TTCACT-T c.4545_4549del p.Lys1516* Frameshift 33/79 - 1
X-32404572-T-C c.4529A>G p.Lys1510Arg Missense 33/79 - 1
X-32406016-T-C c.4519-1434A>G - IntronicSNV - 32/78 1
X-32406016-T-A c.4519-1434A>T - IntronicSNV - 32/78 1
X-32407619-AC-TA c.4516_4517delinsTA p.Val1506* Nonsense 32/79 - 1
X-32407622-ACA-A c.4517_4518del p.Val1506Glufs*4 SpliceDonorDeletion 32/79 - 1
X-32407626-G-A c.4510C>T p.His1504Tyr Missense 32/79 - 1
X-32407637-G-T c.4499C>A p.Ser1500* Nonsense 32/79 - 1
X-32407653-G-A c.4483C>T p.Gln1495* Nonsense 32/79 - 1
X-32407664-T-G c.4472A>C p.Lys1491Thr Missense 32/79 - 1
X-32407689-T-C c.4447A>G p.Met1483Val Missense 32/79 - 1
X-32407693-TC-T c.4443del p.Lys1482Argfs*16 Frameshift 32/79 - 1
X-32407722-G-A c.4414C>T p.Gln1472* Nonsense 32/79 - 1
X-32407730-T-C c.4406A>G p.Gln1469Arg Missense 32/79 - 1
X-32407761-G-A c.4375C>T p.Arg1459* Nonsense 32/79 - 3
X-32407782-G-A c.4354C>T p.Gln1452* Nonsense 32/79 - 1
X-32407789-TTTT-T c.4348_4350del p.Lys1450del InFrameDeletion 32/79 - 1
X-32408188-CCTG-C c.4342_4344del p.Gln1448del InFrameDeletion 31/79 - 1
X-32408204-T-C c.4328A>G p.Gln1443Arg Missense 31/79 - 1
X-32408205-G-A c.4327C>T p.Gln1443* Nonsense 31/79 - 1
X-32408229-C-A c.4303G>T p.Glu1435* Nonsense 31/79 - 2
X-32408233-C-A c.4299G>T p.Gly1433Gly Synonymous 31/79 - 1
X-32408238-G-A c.4294C>T p.Gln1432* Nonsense 31/79 - 2
X-32408247-T-A c.4285A>T p.Lys1429* Nonsense 31/79 - 2
X-32408282-A-T c.4250T>A p.Leu1417* Nonsense 31/79 - 6
X-32408292-G-A c.4240C>T p.Gln1414* Nonsense 31/79 - 3
X-32412214-G-A c.4234-3916C>T - IntronicSNV - 30/78 1
X-32429867-G-A c.4233+2C>T - IntronicSNV - 30/78 1
X-32429871-G-A c.4231C>T p.Gln1411* Nonsense 30/79 - 3
X-32429914-A-C c.4188T>G p.Tyr1396* Nonsense 30/79 - 1
X-32429914-A-T c.4188T>A p.Tyr1396* Nonsense 30/79 - 1
X-32429920-TGC-TGT c.4180delinsA p.Ala1394Thr Missense 30/79 - 1
X-32429924-A-T c.4178T>A p.Leu1393* Nonsense 30/79 - 1
X-32429928-G-A c.4174C>T p.Gln1392* Nonsense 30/79 - 1
X-32429975-TT-T c.4131del p.Lys1377Asnfs*5 Frameshift 30/79 - 1
X-32429982-C-A c.4120G>T p.Glu1374* Nonsense 30/79 - 1
X-32429985-G-A c.4117C>T p.Gln1373* Nonsense 30/79 - 1
X-32430003-G-A c.4099C>T p.Gln1367* Nonsense 30/79 - 1
X-32430018-G-A c.4084C>T p.Gln1362* Nonsense 30/79 - 1
X-32430503-A-T c.4072-473T>A - IntronicSNV - 29/78 1
X-32454346-A-T c.4071+2012T>A - IntronicSNV - 29/78 2
X-32454346-A-C c.4071+2012T>G - IntronicSNV - 29/78 2
X-32454346-A-G c.4071+2012T>C - IntronicSNV - 29/78 2
X-32456357-C-T c.4071+1G>A - IntronicSNV - 29/78 1
X-32456372-C-A c.4057G>T p.Glu1353* Nonsense 29/79 - 1
X-32456417-C-A c.4012G>T p.Glu1338* Nonsense 29/79 - 1
X-32456429-C-T c.4000G>A p.Gly1334Arg Missense 29/79 - 1
X-32456429-C-A c.4000G>T p.Gly1334* Nonsense 29/79 - 1
X-32456443-GG-G c.3988del p.Leu1330* Frameshift 29/79 - 1
X-32456447-G-A c.3982C>T p.Gln1328* Nonsense 29/79 - 1
X-32456458-C-A c.3971G>T p.Arg1324Leu Missense 29/79 - 1
X-32456458-C-T c.3971G>A p.Arg1324His Missense 29/79 - 1
X-32456459-G-A c.3970C>T p.Arg1324Cys Missense 29/79 - 1
X-32456489-G-A c.3940C>T p.Arg1314* Nonsense 29/79 - 6
X-32456493-C-G c.3936G>C p.Leu1312Phe Missense 29/79 - 1
X-32456494-A-T c.3935T>A p.Leu1312* Nonsense 29/79 - 1
X-32456506-G-C c.3923C>G p.Ser1308* Nonsense 29/79 - 1
X-32456506-G-T c.3923C>A p.Ser1308* Nonsense 29/79 - 1
X-32459308-C-A c.3910G>T p.Glu1304* Nonsense 28/79 - 1
X-32459316-T-TT c.3904dup p.Ile1302Asnfs*3 Frameshift 28/79 - 1
X-32459324-TCC-AGC c.3893_3894delinsCT p.Gly1298Ala Missense 28/79 - 1
X-32459368-C-A c.3850G>T p.Glu1284* Nonsense 28/79 - 1
X-32459375-C-T c.3843G>A p.Trp1281* Nonsense 28/79 - 2
X-32459402-C-G c.3816G>C p.Leu1272Phe Missense 28/79 - 1
X-32459415-C-T c.3803G>A p.Trp1268* Nonsense 28/79 - 1
X-32459414-C-T c.3804G>A p.Trp1268* Nonsense 28/79 - 1
X-32459449-A-G c.3787-18T>C - IntronicSNV - 27/78 1
X-32460274-G-T c.3787-843C>A - IntronicSNV - 27/78 1
X-32466576-CCAAAGTC-C c.3779_3785del p.Thr1260Lysfs*21 SpliceDonorDeletion 27/79 - 1
X-32466585-TGCATT-T c.3772_3776del p.Cys1258Aspfs*11 Frameshift 27/79 - 1
X-32466594-A-AA c.3765dup p.Gly1256Trpfs*15 Frameshift 27/79 - 2
X-32466625-G-A c.3734C>T p.Thr1245Ile Missense 27/79 - 1
X-32466631-A-AA c.3728dup p.Thr1244Asnfs*10 Frameshift 27/79 - 1
X-32466638-C-A c.3721G>T p.Glu1241* Nonsense 27/79 - 1
X-32466650-TTTAAGGCCT-T c.3702_3710del p.Ala1235_Lys1237del InFrameDeletion 27/79 - 1
X-32466659-C-A c.3700G>T p.Glu1234* Nonsense 27/79 - 1
X-32466702-CTC-TTT c.3655_3657delinsAAA p.Glu1219Lys Missense 27/79 - 1
X-32466703-T-A c.3656A>T p.Glu1219Val Missense 27/79 - 2
X-32466704-C-A c.3655G>T p.Glu1219* Nonsense 27/79 - 1
X-32466709-AAGGAGTTTCACTT-A c.3638_3650del p.Lys1213Ilefs*5 Frameshift 27/79 - 1
X-32466728-C-A c.3631G>T p.Glu1211* Nonsense 27/79 - 2
X-32466737-G-A c.3622C>T p.Gln1208* Nonsense 27/79 - 1
X-32466746-TC-T c.3613del p.Glu1205Lysfs*10 Frameshift 27/79 - 3
X-32466746-C-A c.3613G>T p.Glu1205* Nonsense 27/79 - 1
X-32466756-C-G c.3604-1G>C - IntronicSNV - 26/78 1
X-32470726-C-G c.3603+2053G>C - IntronicSNV - 26/78 1
X-32472777-A-AA c.3603+2dup - SpliceDonorInsertion - 26/78 1
X-32472777-A-G c.3603+2T>C - IntronicSNV - 26/78 1
X-32472778-C-T c.3603+1G>A - IntronicSNV - 26/78 1
X-32472780-CTTC-C c.3601_3603del p.Lys1201del InFrameDeletion 26/79 - 1
X-32472784-T-TT c.3598dup p.Met1200Asnfs*5 Frameshift 26/79 - 1
X-32472787-C-A c.3595G>T p.Glu1199* Nonsense 26/79 - 1
X-32472802-G-A c.3580C>T p.Gln1194* Nonsense 26/79 - 2
X-32472820-T-A c.3562A>T p.Lys1188* Nonsense 26/79 - 1
X-32472826-C-A c.3556G>T p.Glu1186* Nonsense 26/79 - 1
X-32472838-C-A c.3544G>T p.Glu1182* Nonsense 26/79 - 1
X-32472867-C-T c.3515G>A p.Trp1172* Nonsense 26/79 - 1
X-32472882-G-C c.3500C>G p.Ser1167* Nonsense 26/79 - 1
X-32472895-G-A c.3487C>T p.Gln1163* Nonsense 26/79 - 2
X-32472903-TACAGTTTTCTCCAAACCTCCCTTCAA-T c.3454_3479del p.Leu1152Lysfs*17 Frameshift 26/79 - 1
X-32472962-A-T c.3433-13T>A - IntronicSNV - 25/78 1
X-32474793-T-A c.3433-1844A>T - IntronicSNV - 25/78 1
X-32474793-T-C c.3433-1844A>G - IntronicSNV - 25/78 1
X-32477826-C-A c.3432+3730G>T - IntronicSNV - 25/78 1
X-32479316-T-C c.3432+2240A>G - IntronicSNV - 25/78 1
X-32479520-T-C c.3432+2036A>G - IntronicSNV - 25/78 1
X-32480290-A-G c.3432+1266T>C - IntronicSNV - 25/78 3
X-32480290-A-T c.3432+1266T>A - IntronicSNV - 25/78 3
X-32481555-C-T c.3432+1G>A - IntronicSNV - 25/78 2
X-32481556-C-A c.3432G>T p.Gln1144His Missense 25/79 - 3
X-32481556-CCTG-C c.3430_3432del p.Gln1144del InFrameDeletion 25/79 - 2
X-32481558-G-A c.3430C>T p.Gln1144* Nonsense 25/79 - 1
X-32481568-G-T c.3420C>A p.His1140Gln Missense 25/79 - 1
X-32481575-C-T c.3413G>A p.Trp1138* Nonsense 25/79 - 1
X-32481579-G-A c.3409C>T p.Gln1137* Nonsense 25/79 - 3
X-32481579-GA-AC c.3408_3409delinsGT p.Gln1137* Missense 25/79 - 2
X-32481600-C-A c.3388G>T p.Glu1130* Nonsense 25/79 - 2
X-32481612-T-A c.3376A>T p.Arg1126* Nonsense 25/79 - 1
X-32481630-C-A c.3358G>T p.Glu1120* Nonsense 25/79 - 1
X-32481636-C-A c.3352G>T p.Glu1118* Nonsense 25/79 - 1
X-32481642-T-A c.3346A>T p.Lys1116* Nonsense 25/79 - 1
X-32481648-T-A c.3340A>T p.Lys1114* Nonsense 25/79 - 1
X-32481651-G-A c.3337C>T p.Gln1113* Nonsense 25/79 - 2
X-32481660-C-A c.3328G>T p.Glu1110* Nonsense 25/79 - 3
X-32481684-G-A c.3304C>T p.Gln1102* Nonsense 25/79 - 1
X-32481693-G-A c.3295C>T p.Gln1099* Nonsense 25/79 - 2
X-32482705-T-A c.3274A>T p.Arg1092* Nonsense 24/79 - 1
X-32482711-G-A c.3268C>T p.Gln1090* Nonsense 24/79 - 1
X-32482727-TT-T c.3257del p.Lys1086Serfs*3 Frameshift 24/79 - 1
X-32482727-T-TT c.3257dup p.Gln1087Alafs*11 Frameshift 24/79 - 1
X-32482737-G-T c.3242C>A p.Ser1081* Nonsense 24/79 - 1
X-32482753-G-C c.3226C>G p.Pro1076Ala Missense 24/79 - 1
X-32482755-C-T c.3224G>A p.Trp1075* Nonsense 24/79 - 2
X-32482759-C-A c.3220G>T p.Glu1074* Nonsense 24/79 - 2
X-32482762-C-T c.3217G>A p.Glu1073Lys Missense 24/79 - 1
X-32482762-C-A c.3217G>T p.Glu1073* Nonsense 24/79 - 3
X-32482798-T-G c.3181A>C p.Lys1061Gln Missense 24/79 - 1
X-32482807-G-A c.3172C>T p.Gln1058* Nonsense 24/79 - 1
X-32482814-ATT-GAG c.3163_3165delinsCTC p.Asn1055Leu Missense 24/79 - 1
X-32486618-GAATTTTTCGGAGTTTATTCATTTGCTCCTCTAGCTTTTGACAATGCTCAACCAGCTGGG-G c.3102_3160del p.Gln1035Glufs*12 InFrameDeletion 23/79 - 1
X-32486626-G-A c.3151C>T p.Arg1051* Nonsense 23/79 - 1
X-32486690-C-T c.3087G>A p.Trp1029* Nonsense 23/79 - 1
X-32486690-TCCAGCGTCCCTCAATTTCTTCAAATTCTGATTGAT-T c.3054_3088del p.Tyr1018* Frameshift 23/79 - 1
X-32486691-C-T c.3086G>A p.Trp1029* Nonsense 23/79 - 1
X-32486703-AA-A c.3075del p.Ile1025Metfs*19 Frameshift 23/79 - 1
X-32486767-T-A c.3010A>T p.Lys1004* Nonsense 23/79 - 1
X-32486786-G-C c.2991C>G p.Tyr997* Nonsense 23/79 - 1
X-32486803-G-A c.2974C>T p.Gln992* Nonsense 23/79 - 1
X-32486806-C-G c.2971G>C p.Glu991Gln Missense 23/79 - 1
X-32486809-G-A c.2968C>T p.Gln990* Nonsense 23/79 - 2
X-32486816-AA-A c.2962del p.Ser988Leufs*16 Frameshift 23/79 - 1
X-32486821-G-A c.2956C>T p.Gln986* Nonsense 23/79 - 1
X-32486917-T-G c.2950-90A>C - IntronicSNV - 22/78 1
X-32486917-T-C c.2950-90A>G - IntronicSNV - 22/78 1
X-32490280-C-A c.2949+1G>T - IntronicSNV - 22/78 1
X-32490283-G-A c.2947C>T p.Gln983* Nonsense 22/79 - 1
X-32490297-CT-GC c.2932_2933delinsGC p.Arg978Ala Missense 22/79 - 1
X-32490301-G-A c.2929C>T p.Gln977* Nonsense 22/79 - 1
X-32490304-C-A c.2926G>T p.Glu976* Nonsense 22/79 - 1
X-32490343-A-G c.2887T>C p.Ser963Pro Missense 22/79 - 1
X-32490353-T-G c.2877A>C p.Glu959Asp Missense 22/79 - 1
X-32490353-T-A c.2877A>T p.Glu959Asp Missense 22/79 - 1
X-32490364-G-A c.2866C>T p.Gln956* Nonsense 22/79 - 1
X-32490368-C-T c.2862G>A p.Trp954* Nonsense 22/79 - 1
X-32490397-TG-T c.2833del p.Gln945Argfs*4 Frameshift 22/79 - 1
X-32490397-G-A c.2833C>T p.Gln945* Nonsense 22/79 - 1
X-32490398-A-C c.2832T>G p.Tyr944* Nonsense 22/79 - 1
X-32490414-A-T c.2816T>A p.Leu939* Nonsense 22/79 - 2
X-32490419-GTC-TAA c.2809_2811delinsTTA p.Asp937Leu Nonsense 22/79 - 1
X-32490427-C-A c.2804-1G>T - IntronicSNV - 21/78 2
X-32503048-C-A c.2791G>T p.Glu931* Nonsense 21/79 - 2
X-32503062-TG-GC c.2776_2777delinsGC p.Gln926Ala Missense 21/79 - 6
X-32503063-G-A c.2776C>T p.Gln926* Nonsense 21/79 - 1
X-32503075-AA-A c.2767del p.Ser923Leufs*26 Frameshift 21/79 - 1
X-32503116-T-G c.2723A>C p.Asp908Ala Missense 21/79 - 1
X-32503132-C-A c.2707G>T p.Gly903* Nonsense 21/79 - 1
X-32503135-G-A c.2704C>T p.Gln902* Nonsense 21/79 - 2
X-32503168-TTT-T c.2673_2674del p.Lys891Asnfs*28 Frameshift 21/79 - 1
X-32503174-G-A c.2665C>T p.Arg889* Nonsense 21/79 - 2
X-32503175-TTC-AAC c.2663_2664delinsTT p.Glu888Val Missense 21/79 - 1
X-32503177-C-A c.2662G>T p.Glu888* Nonsense 21/79 - 1
X-32503186-G-A c.2653C>T p.Pro885Ser Missense 21/79 - 1
X-32503194-T-C c.2645A>G p.Gly882Gly Missense 21/79 - 3
X-32503194-T-A c.2645A>T p.Gly882Val Missense 21/79 - 3
X-32503197-G-C c.2642C>G p.Ser881* Nonsense 21/79 - 1
X-32503201-AG-A c.2638del p.Leu880Tyrfs*11 Frameshift 21/79 - 1
X-32503214-ATC-AAG c.2623_2624delinsCT p.Asp875Leu Missense 21/79 - 1
X-32503216-C-T c.2623G>A p.Asp875Asn Missense 21/79 - 1
X-32509393-C-T c.2622+1G>A - IntronicSNV - 20/78 2
X-32509396-TTACAAATTTTTAACTGACTTTTAATTGCTGTTGGCTCTGATGGGGTGGTGGGTTGGATT-T c.2563_2621del p.Ile855Glyfs*2 Unclassified 20/79 - 1
X-32509404-T-G c.2612A>C p.Lys871Thr Missense 20/79 - 1
X-32509405-T-A c.2611A>T p.Lys871* Nonsense 20/79 - 1
X-32509406-T-TT c.2614dup p.Ile872Asnfs*3 Frameshift 20/79 - 1
X-32509410-CTG-C c.2605_2606del p.Gln869Valfs*5 Frameshift 20/79 - 1
X-32509411-G-A c.2605C>T p.Gln869* Nonsense 20/79 - 1
X-32509425-TG-T c.2591del p.Thr864Lysfs*7 Frameshift 20/79 - 1
X-32509434-G-C c.2582C>G p.Ser861* Nonsense 20/79 - 1
X-32509447-GG-G c.2571del p.Thr858Profs*13 Frameshift 20/79 - 1
X-32509460-C-T c.2556G>A p.Trp852* Nonsense 20/79 - 1
X-32509495-G-A c.2521C>T p.Gln841* Nonsense 20/79 - 1
X-32509547-TAA-T c.2468_2469del p.Leu823Glnfs*14 Frameshift 20/79 - 1
X-32509573-AATTCGATCCACCGG-A c.2430_2443del p.Arg811Leufs*6 Frameshift 20/79 - 1
X-32509616-TG-T c.2400del p.Ser800Argfs*9 Frameshift 20/79 - 1
X-32509622-T-TT c.2394dup p.Asp799Argfs*2 Frameshift 20/79 - 1
X-32509633-C-CA c.2382_2383insT p.Gly795Trpfs*3 SpliceAcceptorInsertion 20/79 - 1
X-32509633-C-CT c.2382_2383insA p.Gly795Argfs*3 SpliceAcceptorInsertion 20/79 - 1
X-32509633-C-CG c.2382_2383insC p.Gly795Argfs*3 SpliceAcceptorInsertion 20/79 - 1
X-32518960-T-C c.2380+912A>G - IntronicSNV - 19/78 1
X-32519869-T-G c.2380+3A>C - IntronicSNV - 19/78 1
X-32519872-C-T c.2380G>A p.Glu794Lys Missense 19/79 - 1
X-32519887-C-T c.2365G>A p.Glu789Lys Missense 19/79 - 1
X-32519899-G-A c.2353C>T p.Gln785* Nonsense 19/79 - 2
X-32519944-T-A c.2308A>T p.Lys770* Nonsense 19/79 - 2
X-32519950-G-A c.2302C>T p.Arg768* Nonsense 19/79 - 7
X-32519952-CT-C c.2300del p.Glu767Glyfs*26 Frameshift 19/79 - 2
X-32519960-C-T c.2293-1G>A - IntronicSNV - 18/78 1
X-32530777-A-T c.2292+5348T>A - IntronicSNV - 18/78 1
X-32536125-CATTGACTTTTTCTTTTAAGTCTGAGAAGTTGCCTTCCTTCCGAAAGATTGCAAATTCAG-C c.2234_2292del p.Pro745Argfs*8 InFrameDeletion 18/79 - 1
X-32536136-TCTTTT-T c.2281_2285del p.Glu761Serfs*10 Frameshift 18/79 - 1
X-32536226-AG-A c.2191del p.Leu731Phefs*29 Frameshift 18/79 - 1
X-32536245-C-G c.2172G>C p.Leu724Phe Missense 18/79 - 1
X-32536245-C-A c.2172G>T p.Leu724Phe Missense 18/79 - 1
X-32536247-A-C c.2170T>G p.Leu724Val Missense 18/79 - 1
X-32536249-C-A c.2169-1G>T - IntronicSNV - 17/78 1
X-32558332-C-T c.2168+4944G>A - IntronicSNV - 17/78 1
X-32561619-T-A c.2168+1657A>T - IntronicSNV - 17/78 1
X-32563276-C-T c.2168G>A p.Arg723Lys Missense 17/79 - 1
X-32563299-AGT-TAA c.2143_2145delinsTTA p.Thr715Leu Nonsense 17/79 - 1
X-32563307-G-A c.2137C>T p.Gln713* Nonsense 17/79 - 2
X-32563322-G-GG c.2125dup p.Gln709Profs*11 Frameshift 17/79 - 1
X-32563351-TG-GC c.2092_2093delinsGC p.His698Ala Missense 17/79 - 2
X-32563354-TT-GC c.2089_2090delinsGC p.Lys697Ala Missense 17/79 - 1
X-32563359-CC-C c.2086del p.Val696* Frameshift 17/79 - 1
X-32563367-G-A c.2077C>T p.Gln693* Nonsense 17/79 - 1
X-32563372-CT-GC c.2071_2072delinsGC p.Arg691Ala Missense 17/79 - 1
X-32563390-A-AA c.2054dup p.Thr686Asnfs*34 Frameshift 17/79 - 1
X-32563397-C-A c.2047G>T p.Glu683* Nonsense 17/79 - 1
X-32563449-AA-AG c.1994delinsC p.Ile665Thr Missense 17/79 - 1
X-32563488-A-C c.1993-37T>G - IntronicSNV - 16/78 1
X-32576634-G-A c.1992+7185C>T - IntronicSNV - 16/78 1
X-32583086-T-A c.1992+733A>T - IntronicSNV - 16/78 1
X-32583818-C-A c.1992+1G>T - IntronicSNV - 16/78 1
X-32583822-TGC-CAT c.1987_1989delinsATG p.Ala663Met Missense 16/79 - 1
X-32583834-TTT-T c.1978_1979del p.Lys660Glufs*59 Frameshift 16/79 - 1
X-32583844-T-G c.1967A>C p.Gln656Pro Missense 16/79 - 1
X-32583850-A-T c.1961T>A p.Leu654* Nonsense 16/79 - 1
X-32583850-A-C c.1961T>G p.Leu654* Nonsense 16/79 - 1
X-32583859-C-T c.1952G>A p.Trp651* Nonsense 16/79 - 1
X-32583858-C-T c.1953G>A p.Trp651* Nonsense 16/79 - 1
X-32583912-AT-GG c.1898_1899delinsCC p.Asn633Thr Missense 16/79 - 1
X-32583925-G-C c.1886C>G p.Ser629* Nonsense 16/79 - 3
X-32583938-G-A c.1873C>T p.Gln625* Nonsense 16/79 - 1
X-32583942-G-A c.1869C>T p.Leu623Leu Synonymous 16/79 - 1
X-32583951-ACA-A c.1860_1861del p.Tyr621Phefs*13 Frameshift 16/79 - 1
X-32583968-G-A c.1843C>T p.Gln615* Nonsense 16/79 - 1
X-32583988-G-A c.1823C>T p.Ala608Val Missense 16/79 - 1
X-32587530-G-T c.1813-3532C>A - IntronicSNV - 15/78 1
X-32591643-A-T c.1812+4T>A - IntronicSNV - 15/78 1
X-32591646-C-T c.1812+1G>A - IntronicSNV - 15/78 1
X-32591676-C-A c.1783G>T p.Glu595* Nonsense 15/79 - 1
X-32591727-T-A c.1732A>T p.Lys578* Nonsense 15/79 - 1
X-32591730-C-A c.1729G>T p.Glu577* Nonsense 15/79 - 1
X-32591735-A-G c.1724T>C p.Leu575Pro Missense 15/79 - 1
X-32591738-C-T c.1721G>A p.Trp574* Nonsense 15/79 - 1
X-32591741-G-A c.1718C>T p.Ala573Val Missense 15/79 - 1
X-32591743-ACT-GAG c.1714_1716delinsCTC p.Ser572Leu Missense 15/79 - 1
X-32591744-CT-GC c.1714_1715delinsGC p.Ser572Ala Missense 15/79 - 1
X-32591750-A-AA c.1713dup p.Ser572* Nonsense 15/79 - 1
X-32591759-A-C c.1705-5T>G - IntronicSNV - 14/78 1
X-32591762-A-G c.1705-8T>C - IntronicSNV - 14/78 2
X-32591811-A-G c.1704+51T>C - IntronicSNV - 14/78 1
X-32591864-G-A c.1702C>T p.Gln568* Nonsense 14/79 - 1
X-32591867-C-A c.1699G>T p.Glu567* Nonsense 14/79 - 1
X-32591878-C-T c.1688G>A p.Arg563His Missense 14/79 - 1
X-32591884-C-T c.1682G>A p.Trp561* Nonsense 14/79 - 1
X-32591893-AG-TG c.1673delinsA p.Leu558His Missense 14/79 - 1
X-32591900-C-T c.1666G>A p.Asp556Asn Missense 14/79 - 1
X-32591903-G-A c.1663C>T p.Gln555* Nonsense 14/79 - 2
X-32591914-C-T c.1652G>A p.Trp551* Nonsense 14/79 - 2
X-32591931-TCT-TGT c.1634delinsC p.Arg545Thr Missense 14/79 - 1
X-32591931-T-C c.1635A>G p.Arg545Arg Synonymous 14/79 - 1
X-32591951-G-A c.1615C>T p.Arg539* Nonsense 14/79 - 9
X-32611687-C-G c.1602+2187G>C - IntronicSNV - 13/78 1
X-32613882-G-A c.1594C>T p.Gln532* Nonsense 13/79 - 4
X-32613885-C-T c.1591G>A p.Glu531Lys Missense 13/79 - 2
X-32613922-A-T c.1554T>A p.Asp518Glu Missense 13/79 - 1
X-32613944-G-A c.1532C>T p.Thr511Ile Missense 13/79 - 1
X-32613945-GTGAG-G c.1533_1536del p.His512Trpfs*4 Frameshift 13/79 - 1
X-32613966-G-A c.1510C>T p.Gln504* Nonsense 13/79 - 1
X-32613991-C-G c.1485G>C p.Val495Val Synonymous 13/79 - 1
X-32613991-C-A c.1485G>T p.Val495Val Synonymous 13/79 - 1
X-32613991-C-T c.1485G>A p.Val495Val Synonymous 13/79 - 1
X-32613993-C-T c.1483G>A p.Val495Met Missense 13/79 - 1
X-32614065-A-G c.1483-72T>C - IntronicSNV - 12/78 1
X-32614454-G-T c.1483-461C>A - IntronicSNV - 12/78 1
X-32622348-T-G c.1483-8355A>C - IntronicSNV - 12/78 1
X-32622348-T-C c.1483-8355A>G - IntronicSNV - 12/78 1
X-32632420-C-T c.1482G>A p.Lys494Lys Synonymous 12/79 - 1
X-32632424-T-C c.1478A>G p.His493Arg Missense 12/79 - 1
X-32632477-C-T c.1425G>A p.Glu475Glu Synonymous 12/79 - 1
X-32632479-C-A c.1423G>T p.Glu475* Nonsense 12/79 - 1
X-32632490-TG-T c.1412del p.Thr471Lysfs*16 Frameshift 12/79 - 1
X-32632506-T-A c.1396A>T p.Lys466* Nonsense 12/79 - 1
X-32632514-C-T c.1388G>A p.Trp463* Nonsense 12/79 - 1
X-32632526-T-TT c.1376dup p.Leu460Valfs*3 Frameshift 12/79 - 1
X-32632527-C-A c.1375G>T p.Glu459* Nonsense 12/79 - 2
X-32632530-T-TT c.1374dup p.Glu459Argfs*4 Frameshift 12/79 - 1
X-32632531-CAG-TTT c.1369_1371delinsAAA p.Leu457Lys Missense 12/79 - 1
X-32632537-TCT-T c.1365_1366del p.Lys456Thrfs*6 Frameshift 12/79 - 1
X-32632545-G-A c.1357C>T p.Gln453* Nonsense 12/79 - 1
X-32632551-C-A c.1351G>T p.Asp451Tyr Missense 12/79 - 1
X-32632552-C-T c.1350G>A p.Met450Ile Missense 12/79 - 1
X-32632552-C-G c.1350G>C p.Met450Ile Missense 12/79 - 1
X-32632552-C-A c.1350G>T p.Met450Ile Missense 12/79 - 1
X-32632566-TGT-T c.1336_1337del p.His446* Frameshift 12/79 - 2
X-32632578-T-C c.1332-8A>G - IntronicSNV - 11/78 1
X-32632579-T-C c.1332-9A>G - IntronicSNV - 11/78 1
X-32644479-G-C c.1332-11909C>G - IntronicSNV - 11/78 2
X-32648239-GTGTTAATGAAATCTGTCAGCTTTTCTTTGTCTTAGAAAGTCTTCATTTCTCCTTCAAGT-G c.1331+13952_1331+14010del - IntronicDeletion - 11/78 1
X-32662122-C-T c.1331+127G>A - IntronicSNV - 11/78 2
X-32662278-GAG-TGG c.1301_1302delinsCA p.Leu434Pro Missense 11/79 - 1
X-32662299-TT-T c.1283del p.Asn428Ilefs*9 Frameshift 11/79 - 1
X-32662300-A-G c.1280T>C p.Leu427Pro Missense 11/79 - 1
X-32662341-TG-GT c.1238_1239delinsAC p.Ser413Tyr Missense 11/79 - 1
X-32662371-TC-AC c.1209delinsT p.Gly403Gly Missense 11/79 - 1
X-32662373-CC-AT c.1206_1207delinsAT p.Gly403* Missense 11/79 - 1
X-32662374-CC-C c.1208del p.Gly403Glufs*4 Frameshift 11/79 - 1
X-32662381-A-AT c.1198_1199insA p.Leu400Hisfs*6 Frameshift 11/79 - 1
X-32662389-ACC-TGG c.1189_1191delinsCCA p.Gly397Pro Missense 11/79 - 1
X-32662396-CG-TA c.1183_1184delinsTA p.Arg395* Nonsense 11/79 - 2
X-32662409-C-T c.1171G>A p.Ala391Thr Missense 11/79 - 1
X-32662417-TC-CG c.1162_1163delinsCG p.Asp388Arg Missense 11/79 - 1
X-32662431-CC-C c.1152del - Frameshift - 10/78 1
X-32662432-T-C c.1150-2A>G - IntronicSNV - 10/78 1
X-32663080-C-T c.1149+1G>A - IntronicSNV - 10/78 1
X-32663092-G-A c.1138C>T p.His380Tyr Missense 10/79 - 1
X-32663114-CCAC-C c.1115_1117del p.Val372del InFrameDeletion 10/79 - 1
X-32663121-T-C c.1109A>G p.Asn370Ser Missense 10/79 - 2
X-32663130-T-G c.1100A>C p.Glu367Ala Missense 10/79 - 1
X-32663197-G-A c.1033C>T p.Gln345* Nonsense 10/79 - 2
X-32663232-G-T c.998C>A p.Ser333* Nonsense 10/79 - 2
X-32663417-G-A c.961-148C>T - IntronicSNV - 9/78 1
X-32669100-G-A c.961-5831C>T - IntronicSNV - 9/78 1
X-32669194-T-G c.961-5925A>C - IntronicSNV - 9/78 1
X-32715991-G-C c.956C>G p.Ser319* Nonsense 9/79 - 2
X-32715991-G-T c.956C>A p.Ser319* Nonsense 9/79 - 2
X-32715994-G-A c.953C>T p.Pro318Leu Missense 9/79 - 1
X-32716018-G-C c.929C>G p.Ser310Cys Missense 9/79 - 1
X-32716039-TG-GC c.907_908delinsGC p.Gln303Ala Missense 9/79 - 1
X-32716044-GTAGGC-TTATAC c.899_903delinsTATAA p.Ala300_Tyr301delinsVal* MultiAAMissense 9/79 - 1
X-32716064-G-A c.883C>T p.Arg295* Nonsense 9/79 - 2
X-32716067-G-A c.880C>T p.Pro294Ser Missense 9/79 - 1
X-32716087-T-A c.860A>T p.Glu287Val Missense 9/79 - 1
X-32716089-A-C c.858T>G p.Tyr286* Nonsense 9/79 - 2
X-32716093-CC-AC c.854delinsT p.Gly285Val Missense 9/79 - 1
X-32716094-C-T c.853G>A p.Gly285Arg Missense 9/79 - 1
X-32716106-CTGAC-C c.841_844del p.Ser281* Frameshift 9/79 - 1
X-32716110-C-A c.837G>T p.Thr279Thr Synonymous 9/79 - 2
X-32716110-C-T c.837G>A p.Thr279Thr Synonymous 9/79 - 2
X-32716112-T-C c.835A>G p.Thr279Ala Missense 9/79 - 1
X-32716132-G-T c.832-17C>A - IntronicSNV - 8/78 1
X-32716132-G-A c.832-17C>T - IntronicSNV - 8/78 1
X-32716133-G-C c.832-18C>G - IntronicSNV - 8/78 1
X-32716168-G-A c.832-53C>T - IntronicSNV - 8/78 1
X-32717231-G-A c.829C>T p.Gln277* Nonsense 8/79 - 2
X-32717256-GTAA-G c.802_804del p.Leu268del InFrameDeletion 8/79 - 1
X-32717258-A-G c.802T>C p.Leu268Leu Synonymous 8/79 - 1
X-32717258-A-C c.802T>G p.Leu268Val Missense 8/79 - 1
X-32717261-G-A c.799C>T p.Gln267* Nonsense 8/79 - 1
X-32717270-C-T c.790G>A p.Glu264Lys Missense 8/79 - 1
X-32717274-TTT-CTA c.784_786delinsTAG p.Lys262* Missense 8/79 - 1
X-32717277-A-AA c.783dup p.Lys262* Nonsense 8/79 - 1
X-32717321-C-T c.739G>A p.Ala247Thr Missense 8/79 - 1
X-32717336-G-A c.724C>T p.Gln242* Nonsense 8/79 - 2
X-32717362-GT-CA c.697_698delinsTG p.Thr233* Missense 8/79 - 1
X-32717364-G-C c.696C>G p.Ile232Met Missense 8/79 - 1
X-32717369-A-T c.691T>A p.Tyr231Asn Missense 8/79 - 3
X-32717377-A-T c.683T>A p.Ile228Asn Missense 8/79 - 1
X-32717383-T-C c.677A>G p.Lys226Arg Missense 8/79 - 1
X-32717385-TCTT-T c.676_678del p.Lys226del InFrameDeletion 8/79 - 1
X-32717392-G-T c.668C>A p.Pro223Gln Missense 8/79 - 1
X-32717395-T-G c.665A>C p.Tyr222Ser Missense 8/79 - 1
X-32717405-C-A c.655G>T p.Asp219Tyr Missense 8/79 - 1
X-32717405-TC-T c.655del p.Asp219Ilefs*11 Frameshift 8/79 - 1
X-32717406-A-AGCCCA c.655_656insGGCTG p.Asp219Glyfs*13 Frameshift 8/79 - 1
X-32717407-A-AA c.654dup p.Asp219* Nonsense 8/79 - 1
X-32717410-T-A c.650A>T p.Asp217Val Missense 8/79 - 1
X-32718077-CA-C c.650-667del - IntronicDeletion - 7/78 1
X-32756908-T-C c.650-39498A>G - IntronicSNV - 7/78 1
X-32756985-T-G c.650-39575A>C - IntronicSNV - 7/78 1
X-32759470-G-A c.650-42060C>T - IntronicSNV - 7/78 1
X-32782229-CAACTAAATGGTTAAAAATTATGTTTAGAGAACAATCTGGAAAATATATACTCACAGACA-C c.649+45323_649+45381del - Unclassified - 7/78 1
X-32789436-A-G c.649+38174T>C - IntronicSNV - 7/78 1
X-32793479-CCCACATTTCCCCCCTGCATTGCCCTAGTAGAGGTTCTCCATGAGGACTCCGCCCCTGCA-C c.649+34073_649+34131del - Unclassified - 7/78 1
X-32808713-CAGTGATATTTCCCACCCATGGCTGCAACTGCTGGGGCCAAGGCAGGAACCACTGGCAGC-C c.649+18840_649+18898del - Unclassified - 7/78 1
X-32811398-GGCAAAAGCAGTGCTAAGGGGGATGTATATAGCAAAAATGCTCACATCAAAAATGTTGAA-G c.649+16154_649+16212del - Unclassified - 7/78 1
X-32827613-C-T c.646G>A p.Glu216Lys Missense 7/79 - 1
X-32827616-GG-G c.644del p.Pro215Leufs*15 Frameshift 7/79 - 1
X-32827616-G-A c.643C>T p.Pro215Ser Missense 7/79 - 2
X-32827630-T-TT c.629dup p.Lys211Glufs*6 Frameshift 7/79 - 1
X-32827634-AT-A c.625del p.Ile209* Frameshift 7/79 - 1
X-32827639-A-T c.620T>A p.Leu207* Nonsense 7/79 - 1
X-32827639-A-C c.620T>G p.Leu207* Nonsense 7/79 - 1
X-32827644-A-T c.615T>A p.Tyr205* Nonsense 7/79 - 2
X-32827673-G-A c.586C>T p.Leu196Leu Synonymous 7/79 - 1
X-32827676-G-A c.583C>T p.Arg195* Nonsense 7/79 - 10
X-32827679-G-A c.580C>T p.Gln194* Nonsense 7/79 - 2
X-32827691-G-A c.568C>T p.Gln190* Nonsense 7/79 - 1
X-32827696-C-G c.563G>C p.Cys188Ser Missense 7/79 - 3
X-32827697-A-T c.562T>A p.Cys188Ser Missense 7/79 - 3
X-32828836-T-A c.531-1108A>T - IntronicSNV - 6/78 1
X-32828836-T-C c.531-1108A>G - IntronicSNV - 6/78 1
X-32828836-T-G c.531-1108A>C - IntronicSNV - 6/78 1
X-32834584-C-T c.530+1G>A - IntronicSNV - 6/78 1
X-32834600-A-T c.515T>A p.Leu172His Missense 6/79 - 3
X-32834603-G-T c.512C>A p.Ala171Asp Missense 6/79 - 1
X-32834604-C-G c.511G>C p.Ala171Pro Missense 6/79 - 3
X-32834612-G-T c.503C>A p.Ala168Asp Missense 6/79 - 6
X-32834618-C-A c.497G>T p.Gly166Val Missense 6/79 - 1
X-32834621-T-A c.494A>T p.Asp165Val Missense 6/79 - 5
X-32834624-GA-CG c.490_491delinsCG p.Ser164Arg Missense 6/79 - 1
X-32834631-T-C c.484A>G p.Ser162Gly Missense 6/79 - 1
X-32834634-T-G c.481A>C p.Thr161Pro Missense 6/79 - 1
X-32834637-T-G c.478A>C p.Thr160Pro Missense 6/79 - 2
X-32834642-T-C c.473A>G p.Asn158Ser Missense 6/79 - 1
X-32834644-G-T c.471C>A p.Ile157Ile Synonymous 6/79 - 1
X-32834658-G-A c.457C>T p.Gln153* Nonsense 6/79 - 2
X-32834662-A-T c.453T>A p.Tyr151* Nonsense 6/79 - 1
X-32834670-G-A c.445C>T p.Arg149Cys Missense 6/79 - 1
X-32834675-G-T c.440C>A p.Ser147* Nonsense 6/79 - 1
X-32834675-G-C c.440C>G p.Ser147* Nonsense 6/79 - 1
X-32834676-A-C c.439T>G p.Ser147Ala Missense 6/79 - 1
X-32834679-G-A c.436C>T p.Gln146* Nonsense 6/79 - 1
X-32834681-C-G c.434G>C p.Arg145Pro Missense 6/79 - 2
X-32834682-G-A c.433C>T p.Arg145* Nonsense 6/79 - 4
X-32834685-C-T c.430G>A p.Val144Ile Missense 6/79 - 1
X-32834688-A-G c.427T>C p.Trp143Arg Missense 6/79 - 1
X-32834691-T-A c.424A>T p.Ser142Cys Missense 6/79 - 1
X-32834697-G-A c.418C>T p.Leu140Phe Missense 6/79 - 1
X-32834703-T-A c.412A>T p.Lys138* Nonsense 6/79 - 1
X-32834718-G-A c.397C>T p.Gln133* Nonsense 6/79 - 1
X-32834721-G-A c.394C>T p.Gln132* Nonsense 6/79 - 1
X-32834723-A-T c.392T>A p.Leu131* Nonsense 6/79 - 1
X-32834731-CCAT-C c.382_384del p.Met128del InFrameDeletion 6/79 - 1
X-32834743-TCAT-T c.371_373del p.Met124del InFrameDeletion 6/79 - 1
X-32834755-G-GG c.360dup p.Lys121Glnfs*17 Frameshift 6/79 - 1
X-32834759-T-A c.358-2A>T - IntronicSNV - 5/78 1
X-32841414-G-A c.355C>T p.Gln119* Nonsense 5/79 - 3
X-32841417-A-T c.352T>A p.Trp118Arg Missense 5/79 - 1
X-32841422-AG-GC c.346_347delinsGC p.Leu116Ala Missense 5/79 - 1
X-32841426-T-A c.343A>T p.Ile115Phe Missense 5/79 - 1
X-32841433-C-T c.336G>A p.Trp112* Nonsense 5/79 - 1
X-32841440-A-T c.329T>A p.Leu110* Nonsense 5/79 - 1
X-32841443-C-A c.326G>T p.Gly109Val Missense 5/79 - 1
X-32841452-A-G c.317T>C p.Leu106Pro Missense 5/79 - 1
X-32841463-TC-AC c.306delinsT p.Gly102Gly Missense 5/79 - 1
X-32841467-TC-AT c.301_302delinsAT p.Asp101Ile Missense 5/79 - 1
X-32841473-AT-CA c.295_296delinsTG p.Ile99Cys Missense 5/79 - 1
X-32841475-TG-T c.294del p.Asp98Glufs*3 Frameshift 5/79 - 1
X-32841486-C-G c.283G>C p.Gly95Arg Missense 5/79 - 1
X-32841494-AC-TA c.274_275delinsTA p.Val92* Nonsense 5/79 - 1
X-32841505-C-G c.265-1G>C - IntronicSNV - 4/78 1
X-32841967-T-C c.265-463A>G - IntronicSNV - 4/78 1
X-32861305-G-A c.264+1595C>T - IntronicSNV - 4/78 1
X-32862900-CATTATTGTTCTGCAAAACCCGCAGTGCCTTGTTGACATTGTTCAGGGCATGAACTCTTG-C c.206_264del p.Thr69Serfs*2 InFrameDeletion 4/79 - 2
X-32862916-A-AA c.251dup p.Leu84Phefs*5 Frameshift 4/79 - 1
X-32862928-T-C c.236A>G p.Lys79Arg Missense 4/79 - 1
X-32862929-T-G c.235A>C p.Lys79Gln Missense 4/79 - 1
X-32862936-AT-TG c.227_228delinsCA p.Asn76Thr Missense 4/79 - 1
X-32862942-CAG-ATC c.220_222delinsGAT p.Leu74Asp Missense 4/79 - 1
X-32862943-AG-TA c.220_221delinsTA p.Leu74* Nonsense 4/79 - 1
X-32862950-G-A c.214C>T p.His72Tyr Missense 4/79 - 1
X-32862971-TCT-T c.193_194del p.Glu65Lysfs*23 Frameshift 4/79 - 1
X-32862990-ACAAAA-A c.187-10_187-6del - IntronicDeletion - 3/78 1
X-32867843-A-G c.186+2T>C - IntronicSNV - 3/78 1
X-32867849-TT-GC c.181_182delinsGC p.Lys61Ala Missense 3/79 - 1
X-32867850-T-C c.181A>G p.Lys61Glu Missense 3/79 - 1
X-32867853-G-A c.178C>T p.Gln60* Nonsense 3/79 - 2
X-32867859-T-C c.172A>G p.Thr58Ala Missense 3/79 - 1
X-32867863-GC-AG c.167_168delinsCT p.Gly56Ala Missense 3/79 - 1
X-32867868-C-A c.163G>T p.Glu55* Nonsense 3/79 - 1
X-32867870-A-C c.161T>G p.Leu54Arg Missense 3/79 - 8
X-32867873-GAGG-G c.160_162del p.Leu54del InFrameDeletion 3/79 - 2
X-32867873-A-C c.158T>G p.Leu53Arg Missense 3/79 - 1
X-32867877-C-T c.154G>A p.Asp52Asn Missense 3/79 - 1
X-32867879-A-C c.152T>G p.Leu51Arg Missense 3/79 - 1
X-32867881-G-GG c.151dup p.Leu51Profs*38 Frameshift 3/79 - 1
X-32867882-A-T c.149T>A p.Leu50His Missense 3/79 - 1
X-32867887-CCT-GAC c.142_144delinsGTC p.Arg48Val Missense 3/79 - 1
X-32867892-C-CC c.141dup p.Arg48Glufs*41 Frameshift 3/79 - 1
X-32867898-G-A c.133C>T p.Gln45* Nonsense 3/79 - 1
X-32867901-G-A c.130C>T p.Leu44Leu Synonymous 3/79 - 1
X-32867908-GA-AA c.123delinsT p.Phe41Phe Nonsense 3/79 - 1
X-32867909-AA-GC c.121_122delinsGC p.Phe41Ala Missense 3/79 - 1
X-32867914-G-T c.117C>A p.Asn39Lys Missense 3/79 - 1
X-32867914-G-C c.117C>G p.Asn39Lys Missense 3/79 - 1
X-32867915-T-C c.116A>G p.Asn39Ser Missense 3/79 - 2
X-32867916-T-C c.115A>G p.Asn39Asp Missense 3/79 - 1
X-32867916-T-A c.115A>T p.Asn39Tyr Missense 3/79 - 1
X-32867922-T-A c.109A>T p.Ile37Phe Missense 3/79 - 2
X-32867925-G-C c.106C>G p.His36Asp Missense 3/79 - 1
X-32867928-G-A c.103C>T p.Gln35* Nonsense 3/79 - 2
X-32867931-T-A c.100A>T p.Lys34* Nonsense 3/79 - 1
X-32867932-CCC-ATC c.98_99delinsAT p.Gly33Asp Missense 3/79 - 1
X-32867932-TCCCA-T c.96_99del p.Phe32Leufs*19 Frameshift 3/79 - 1
X-32867938-C-A c.94-1G>T - IntronicSNV - 2/78 1
X-32867953-A-AA c.94-9dup - IntronicInsertion - 2/78 1
X-32869013-G-A c.94-1076C>T - IntronicSNV - 2/78 1
X-32870932-T-C c.94-2995A>G - IntronicSNV - 2/78 1
X-32947649-A-T c.94-79712T>A - IntronicSNV - 2/78 3
X-32999608-C-T c.93+38648G>A - IntronicSNV - 2/78 1
X-33032666-A-T c.93+5590T>A - IntronicSNV - 2/78 1
X-33038255-C-G c.93+1G>C - IntronicSNV - 2/78 1
X-33038267-G-A c.82C>T p.Gln28* Nonsense 2/79 - 1
X-33038269-G-A c.80C>T p.Ala27Val Missense 2/79 - 1
X-33038272-T-C c.77A>G p.Asn26Ser Missense 2/79 - 1
X-33038277-C-T c.72G>A p.Trp24* Nonsense 2/79 - 1
X-33038279-A-G c.70T>C p.Trp24Arg Missense 2/79 - 1
X-33038281-TT-GC c.67_68delinsGC p.Lys23Ala Missense 2/79 - 1
X-33038282-T-A c.67A>T p.Lys23* Nonsense 2/79 - 1
X-33038290-GT-GG c.58delinsC p.Thr20Pro Missense 2/79 - 1
X-33038290-G-C c.59C>G p.Thr20Arg Missense 2/79 - 1
X-33038291-T-A c.58A>T p.Thr20Ser Missense 2/79 - 1
X-33038295-C-A c.54G>T p.Lys18Asn Missense 2/79 - 5
X-33038295-C-G c.54G>C p.Lys18Asn Missense 2/79 - 5
X-33038297-T-A c.52A>T p.Lys18* Nonsense 2/79 - 1
X-33038299-TT-T c.53del p.Lys18Argfs*8 Frameshift 2/79 - 1
X-33038300-G-A c.49C>T p.Gln17* Nonsense 2/79 - 1
X-33038311-CT-GA c.37_38delinsTC p.Arg13Ser Missense 2/79 - 1
X-33038311-TCT-T c.40_41del p.Glu14Argfs*17 Frameshift 2/79 - 6
X-33038314-T-G c.35A>C p.Glu12Ala Missense 2/79 - 1
X-33038319-T-A c.32-2A>T - IntronicSNV - 1/78 1
X-33038395-C-A c.32-78G>T - IntronicSNV - 1/78 1
X-33046344-G-A c.32-8027C>T - IntronicSNV - 1/78 1
X-33074976-T-A c.32-36659A>T - IntronicSNV - 1/78 1
X-33077492-T-C c.32-39175A>G - IntronicSNV - 1/78 1
X-33125527-T-C c.32-87210A>G - IntronicSNV - 1/78 1
X-33146086-A-G c.31+83313T>C - IntronicSNV - 1/78 2
X-33192452-C-T c.31+36947G>A - IntronicSNV - 1/78 2
X-33199451-C-T c.31+29948G>A - IntronicSNV - 1/78 1
X-33229398-C-T c.31+1G>A - IntronicSNV - 1/78 1
X-33229401-C-G c.29G>C p.Cys10Ser Missense 1/79 - 2
X-33229402-A-T c.28T>A p.Cys10Ser Missense 1/79 - 2
X-33229406-C-G c.24G>C p.Glu8Asp Missense 1/79 - 1
X-33229408-C-A c.22G>T p.Glu8* Nonsense 1/79 - 1
X-33229411-C-T c.19G>A p.Val7Ile Missense 1/79 - 1
X-33229413-T-A c.17A>T p.Glu6Val Missense 1/79 - 1
X-33229416-TT-T c.15del p.Glu6Lysfs*2 Frameshift 1/79 - 1
X-33229419-C-T c.11G>A p.Trp4* Nonsense 1/79 - 2
X-33229421-C-T c.9G>A p.Trp3* Nonsense 1/79 - 11
X-33229421-C-A c.9G>T p.Trp3Cys Missense 1/79 - 1
X-33229422-C-T c.8G>A p.Trp3* Nonsense 1/79 - 2
X-33229424-A-C c.6T>G p.Leu2Leu Synonymous 1/79 - 2
X-33229427-C-T c.3G>A p.Met1? Missense 1/79 - 1