KIT KIT proto-oncogene, receptor tyrosine kinase

Canonical transcript: NM_000222

828 unique variant annotations were identified in 1080 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
4-55524199-GCGCCTG-G c.18_23del p.Ala7_Trp8del InFrameDeletion 1/21 - 1
4-55524209-TT-AC c.28_29delinsAC p.Phe10Thr Missense 1/21 - 1
4-55524216-G-A c.35G>A p.Cys12Tyr Missense 1/21 - 2
4-55524216-G-C c.35G>C p.Cys12Ser Missense 1/21 - 2
4-55524216-G-T c.35G>T p.Cys12Phe Missense 1/21 - 1
4-55524218-G-C c.37G>C p.Val13Leu Missense 1/21 - 1
4-55524234-T-C c.53T>C p.Leu18Pro Missense 1/21 - 1
4-55524242-CAG-GAC c.61_63delinsGAC p.Gln21Asp Missense 1/21 - 4
4-55524248-G-A c.67G>A p.Gly23Ser Missense 1/21 - 1
4-55524304-T-C c.67+56T>C - IntronicSNV - 1/20 1
4-55525930-A-C c.67+1682A>C - IntronicSNV - 1/20 1
4-55537014-T-C c.67+12766T>C - IntronicSNV - 1/20 1
4-55537481-C-G c.67+13233C>G - IntronicSNV - 1/20 1
4-55537481-C-T c.67+13233C>T - IntronicSNV - 1/20 1
4-55541879-T-C c.67+17631T>C - IntronicSNV - 1/20 1
4-55552330-T-C c.68-9348T>C - IntronicSNV - 1/20 1
4-55554331-T-C c.68-7347T>C - IntronicSNV - 1/20 1
4-55561678-G-C c.68G>C p.Gly23Ala Missense 2/21 - 1
4-55561689-CCA-AAC c.79_81delinsAAC p.Pro27Asn Missense 2/21 - 1
4-55561689-CCA-TGT c.79_81delinsTGT p.Pro27Cys Missense 2/21 - 1
4-55561698-AG-CT c.88_89inv p.Ser30Leu Missense 2/21 - 1
4-55561701-C-A c.91C>A p.Pro31Thr Missense 2/21 - 1
4-55561705-G-A c.95G>A p.Gly32Glu Missense 2/21 - 1
4-55561705-G-T c.95G>T p.Gly32Val Missense 2/21 - 1
4-55561706-G-A c.96G>A p.Gly32Gly Synonymous 2/21 - 1
4-55561706-G-C c.96G>C p.Gly32Gly Synonymous 2/21 - 1
4-55561706-G-T c.96G>T p.Gly32Gly Synonymous 2/21 - 1
4-55561711-C-T c.101C>T p.Pro34Leu Missense 2/21 - 1
4-55561717-C-A c.107C>A p.Pro36Gln Missense 2/21 - 1
4-55561719-C-T c.109C>T p.Pro37Ser Missense 2/21 - 1
4-55561732-CCA-C c.122_123del p.Pro41Argfs*14 Frameshift 2/21 - 2
4-55561755-C-T c.145C>T p.Arg49Cys Missense 2/21 - 2
4-55561756-G-A c.146G>A p.Arg49His Missense 2/21 - 2
4-55561757-C-A c.147C>A p.Arg49Arg Synonymous 2/21 - 2
4-55561757-C-T c.147C>T p.Arg49Arg Synonymous 2/21 - 2
4-55561758-G-A c.148G>A p.Val50Met Missense 2/21 - 2
4-55561758-G-T c.148G>T p.Val50Leu Missense 2/21 - 5
4-55561762-GC-AG c.152_153delinsAG p.Gly51Glu Missense 2/21 - 1
4-55561764-G-A c.154G>A p.Asp52Asn Missense 2/21 - 9
4-55561766-ACGA-A c.156_158del p.Asp52del InFrameDeletion 2/21 - 1
4-55561767-G-A c.157G>A p.Glu53Lys Missense 2/21 - 1
4-55561777-T-A c.167T>A p.Leu56Gln Missense 2/21 - 1
4-55561791-C-A c.181C>A p.Pro61Thr Missense 2/21 - 1
4-55561797-TT-GC c.187_188delinsGC p.Phe63Ala Missense 2/21 - 2
4-55561812-T-C c.202T>C p.Phe68Leu Missense 2/21 - 1
4-55561814-T-A c.204T>A p.Phe68Leu Missense 2/21 - 1
4-55561814-T-G c.204T>G p.Phe68Leu Missense 2/21 - 1
4-55561817-G-C c.207G>C p.Glu69Asp Missense 2/21 - 1
4-55561817-G-T c.207G>T p.Glu69Asp Missense 2/21 - 1
4-55561827-GA-AG c.217_218delinsAG p.Glu73Arg Missense 2/21 - 1
4-55561831-C-G c.221C>G p.Thr74Arg Missense 2/21 - 1
4-55561833-A-T c.223A>T p.Asn75Tyr Missense 2/21 - 1
4-55561834-A-AA c.224dup p.Asn75Lysfs*2 Frameshift 2/21 - 1
4-55561836-G-A c.226G>A p.Glu76Lys Missense 2/21 - 1
4-55561837-A-AA c.227dup p.Asn77Glufs*2 Frameshift 2/21 - 1
4-55561838-G-C c.228G>C p.Glu76Asp Missense 2/21 - 1
4-55561838-G-T c.228G>T p.Glu76Asp Missense 2/21 - 1
4-55561839-A-C c.229A>C p.Asn77His Missense 2/21 - 1
4-55561840-A-G c.230A>G p.Asn77Ser Missense 2/21 - 1
4-55561842-TAA-T c.232_233del p.Lys78Alafs*3 Frameshift 2/21 - 1
4-55561846-A-T c.236A>T p.Gln79Leu Missense 2/21 - 1
4-55561860-A-G c.250A>G p.Thr84Ala Missense 2/21 - 1
4-55561869-GCA-TTT c.259_261delinsTTT p.Ala87Phe Missense 2/21 - 1
4-55561870-CA-AC c.260_261delinsAC p.Ala87Asp Missense 2/21 - 1
4-55561872-G-A c.262G>A p.Glu88Lys Missense 2/21 - 1
4-55561872-G-T c.262G>T p.Glu88* Nonsense 2/21 - 1
4-55561875-GC-TT c.265_266delinsTT p.Ala89Phe Missense 2/21 - 1
4-55561888-G-C c.278G>C p.Gly93Ala Missense 2/21 - 4
4-55561897-C-T c.287C>T p.Thr96Met Missense 2/21 - 1
4-55561902-AC-CT c.292_293delinsCT p.Thr98Leu Missense 2/21 - 1
4-55561902-AC-GG c.292_293delinsGG p.Thr98Gly Missense 2/21 - 6
4-55561927-C-T c.317C>T p.Ser106Phe Missense 2/21 - 1
4-55561938-T-C c.328T>C p.Phe110Leu Missense 2/21 - 1
4-55561940-T-A c.330T>A p.Phe110Leu Missense 2/21 - 1
4-55561940-T-G c.330T>G p.Phe110Leu Missense 2/21 - 1
4-55564458-AA-TG c.346_347delinsTG p.Lys116Trp Missense 3/21 - 2
4-55564460-G-C c.348G>C p.Lys116Asn Missense 3/21 - 1
4-55564460-G-T c.348G>T p.Lys116Asn Missense 3/21 - 1
4-55564480-C-T c.368C>T p.Ser123Phe Missense 3/21 - 2
4-55564491-AAA-GAC c.379_381delinsGAC p.Lys127Asp Missense 3/21 - 1
4-55564500-A-G c.388A>G p.Asn130Asp Missense 3/21 - 1
4-55564503-G-A c.391G>A p.Asp131Asn Missense 3/21 - 1
4-55564515-C-G c.403C>G p.Arg135Gly Missense 3/21 - 1
4-55564536-G-C c.424G>C p.Glu142Gln Missense 3/21 - 1
4-55564574-G-C c.462G>C p.Lys154Asn Missense 3/21 - 1
4-55564574-G-T c.462G>T p.Lys154Asn Missense 3/21 - 1
4-55564575-C-A c.463C>A p.Pro155Thr Missense 3/21 - 1
4-55564581-C-T c.469C>T p.Pro157Ser Missense 3/21 - 1
4-55564587-G-C c.475G>C p.Asp159His Missense 3/21 - 1
4-55564588-A-C c.476A>C p.Asp159Ala Missense 3/21 - 1
4-55564590-T-G c.478T>G p.Leu160Val Missense 3/21 - 1
4-55564590-TT-CC c.478_479delinsCC p.Leu160Pro Missense 3/21 - 1
4-55564612-A-T c.500A>T p.Lys167Met Missense 3/21 - 1
4-55564632-AG-GC c.520_521delinsGC p.Ser174Ala Missense 3/21 - 1
4-55564645-C-T c.533C>T p.Ala178Val Missense 3/21 - 1
4-55564646-C-A c.534C>A p.Ala178Ala Synonymous 3/21 - 1
4-55564646-C-G c.534C>G p.Ala178Ala Synonymous 3/21 - 1
4-55564646-C-T c.534C>T p.Ala178Ala Synonymous 3/21 - 1
4-55564695-G-A c.583G>A p.Val195Met Missense 3/21 - 1
4-55564731-G-T c.619G>T p.Ala207Ser Missense 3/21 - 1
4-55565796-C-T c.620C>T p.Ala207Val Missense 4/21 - 1
4-55565802-A-T c.626A>T p.Lys209Ile Missense 4/21 - 1
4-55565816-G-C c.640G>C p.Val214Leu Missense 4/21 - 1
4-55565816-G-T c.640G>T p.Val214Leu Missense 4/21 - 1
4-55565852-G-T c.676G>T p.Gly226Trp Missense 4/21 - 1
4-55565882-A-T c.706A>T p.Lys236* Nonsense 4/21 - 1
4-55565891-TC-GA c.715_716inv p.Ser239Asp Missense 4/21 - 2
4-55565898-C-T c.722C>T p.Ser241Phe Missense 4/21 - 1
4-55565910-C-T c.734C>T p.Thr245Met Missense 4/21 - 1
4-55565918-AGA-TGT c.742_744delinsTGT p.Arg248Cys Missense 4/21 - 1
4-55565918-AG-CA c.742_743delinsCA p.Arg248Gln Missense 4/21 - 1
4-55565931-A-G c.755A>G p.Gln252Arg Missense 4/21 - 1
4-55565932-G-C c.756G>C p.Gln252His Missense 4/21 - 14
4-55565932-G-T c.756G>T p.Gln252His Missense 4/21 - 14
4-55569897-T-A c.764T>A p.Leu255Gln Missense 5/21 - 1
4-55569922-T-G c.789T>G p.His263Gln Missense 5/21 - 1
4-55569926-G-C c.793G>C p.Gly265Arg Missense 5/21 - 1
4-55569927-G-C c.794G>C p.Gly265Ala Missense 5/21 - 1
4-55569941-G-A c.808G>A p.Glu270Lys Missense 5/21 - 1
4-55569951-C-G c.818C>G p.Ala273Gly Missense 5/21 - 1
4-55569967-T-C c.834T>C p.Ser278Ser Synonymous 5/21 - 1
4-55569983-G-C c.850G>C p.Asp284His Missense 5/21 - 1
4-55569989-G-A c.856G>A p.Gly286Arg Missense 5/21 - 1
4-55569989-G-C c.856G>C p.Gly286Arg Missense 5/21 - 1
4-55569992-G-T c.859G>T p.Val287Leu Missense 5/21 - 1
4-55570028-G-A c.895G>A p.Ala299Thr Missense 5/21 - 1
4-55570044-C-T c.911C>T p.Thr304Ile Missense 5/21 - 1
4-55571441-C-G c.925+1383C>G - IntronicSNV - 5/20 1
4-55571441-C-T c.925+1383C>T - IntronicSNV - 5/20 1
4-55573264-A-T c.926A>T p.Asp309Val Missense 6/21 - 1
4-55573283-C-G c.945C>G p.Ile315Met Missense 6/21 - 2
4-55573314-A-G c.976A>G p.Asn326Asp Missense 6/21 - 1
4-55573317-G-A c.979G>A p.Asp327Asn Missense 6/21 - 1
4-55573323-G-A c.985G>A p.Glu329Lys Missense 6/21 - 1
4-55573339-TT-AG c.1001_1002delinsAG p.Ile334Lys Missense 6/21 - 1
4-55573350-G-A c.1012G>A p.Glu338Lys Missense 6/21 - 1
4-55573374-C-A c.1036C>A p.Gln346Lys Missense 6/21 - 1
4-55573375-A-T c.1037A>T p.Gln346Leu Missense 6/21 - 1
4-55573389-AT-GA c.1051_1052delinsGA p.Met351Glu Missense 6/21 - 1
4-55573390-T-C c.1052T>C p.Met351Thr Missense 6/21 - 15
4-55573391-G-A c.1053G>A p.Met351Ile Missense 6/21 - 1
4-55573391-G-C c.1053G>C p.Met351Ile Missense 6/21 - 1
4-55573391-G-T c.1053G>T p.Met351Ile Missense 6/21 - 1
4-55573401-T-C c.1063T>C p.Phe355Leu Missense 6/21 - 1
4-55573403-C-A c.1065C>A p.Phe355Leu Missense 6/21 - 1
4-55573403-C-G c.1065C>G p.Phe355Leu Missense 6/21 - 1
4-55573404-AC-GA c.1066_1067delinsGA p.Thr356Asp Missense 6/21 - 1
4-55573404-A-G c.1066A>G p.Thr356Ala Missense 6/21 - 1
4-55573423-A-T c.1085A>T p.Tyr362Phe Missense 6/21 - 1
4-55573425-C-T c.1087C>T p.Pro363Ser Missense 6/21 - 1
4-55573447-A-G c.1109A>G p.Asn370Ser Missense 6/21 - 2
4-55575592-A-G c.1118A>G p.Tyr373Cys Missense 7/21 - 3
4-55575615-AG-GC c.1141_1142delinsGC p.Arg381Ala Missense 7/21 - 1
4-55575636-G-C c.1162G>C p.Gly388Arg Missense 7/21 - 1
4-55575639-AC-GG c.1165_1166delinsGG p.Thr389Gly Missense 7/21 - 1
4-55575664-C-T c.1190C>T p.Ser397Phe Missense 7/21 - 1
4-55575669-G-A c.1195G>A p.Val399Ile Missense 7/21 - 2
4-55575669-G-C c.1195G>C p.Val399Leu Missense 7/21 - 1
4-55589754-A-G c.1236A>G p.Lys412Lys Synonymous 8/21 - 1
4-55589759-A-C c.1241A>C p.Glu414Ala Missense 8/21 - 1
4-55589767-AC-TA c.1249_1250delinsTA p.Thr417Tyr Missense 8/21 - 1
4-55589767-ACTTACGACA-GGATGGAACT c.1249_1258delinsGGATGGAACT p.Thr417_Arg420delinsGlyTrpAsnTrp MultiAAMissense 8/21 - 1
4-55589768-C-T c.1250C>T p.Thr417Ile Missense 8/21 - 3
4-55589770-T-A c.1252T>A p.Tyr418Asn Missense 8/21 - 1
4-55589770-TAC-TTTTTTTGG c.1253_1254delinsTTTTTTGG p.Tyr418delinsPhePheTrp MultiAAMissense 8/21 - 1
4-55589770-TTAC-T c.1252_1254del p.Tyr418del InFrameDeletion 8/21 - 1
4-55589771-A-C c.1253A>C p.Tyr418Ser Missense 8/21 - 1
4-55589771-A-G c.1253A>G p.Tyr418Cys Missense 8/21 - 1
4-55589772-C-CT c.1254_1255insT p.Asp419* Nonsense 8/21 - 1
4-55589772-C-T c.1254C>T p.Tyr418Tyr Synonymous 8/21 - 1
4-55589773-CGAC-C c.1255_1257del p.Asp419del InFrameDeletion 8/21 - 6
4-55589773-GAC-AGGGGT c.1255_1257delinsAGGGGT p.Asp419delinsArgGly MultiAAMissense 8/21 - 1
4-55589773-GA-TT c.1255_1256delinsTT p.Asp419Phe Missense 8/21 - 1
4-55589773-G-C c.1255G>C p.Asp419His Missense 8/21 - 4
4-55589773-G-T c.1255G>T p.Asp419Tyr Missense 8/21 - 2
4-55589774-A-C c.1256A>C p.Asp419Ala Missense 8/21 - 3
4-55589774-AC-GTCTA c.1256_1257delinsGTCTA p.Asp419delinsGlyLeu MultiAAMissense 8/21 - 1
4-55589774-A-G c.1256A>G p.Asp419Gly Missense 8/21 - 1
4-55589776-AG-GA c.1258_1259delinsGA p.Arg420Glu Missense 8/21 - 1
4-55589776-CAGG-C c.1258_1260del p.Arg420del InFrameDeletion 8/21 - 1
4-55589779-CTC-ACAAGGGTATAT c.1261_1263delinsACAAGGGTATAT p.Leu421delinsThrArgValTyr MultiAAMissense 8/21 - 1
4-55589779-GCTC-G c.1261_1263del p.Leu421del InFrameDeletion 8/21 - 1
4-55589782-GTG-AGCAGGATCCTT c.1264_1266delinsAGCAGGATCCTT p.Val422delinsSerArgIleLeu MultiAAMissense 8/21 - 1
4-55589791-AT-GC c.1273_1274delinsGC p.Met425Ala Missense 8/21 - 1
4-55589792-T-A c.1274T>A p.Met425Lys Missense 8/21 - 1
4-55589830-A-C c.1312A>C p.Ile438Leu Missense 8/21 - 1
4-55589830-A-T c.1312A>T p.Ile438Leu Missense 8/21 - 1
4-55589833-G-C c.1315G>C p.Asp439His Missense 8/21 - 1
4-55589842-TT-GC c.1324_1325delinsGC p.Phe442Ala Missense 8/21 - 3
4-55589846-G-A c.1328G>A p.Cys443Tyr Missense 8/21 - 4
4-55589852-G-A c.1334G>A p.Gly445Glu Missense 8/21 - 1
4-55592028-C-G c.1352C>G p.Ser451Cys Missense 9/21 - 5
4-55592039-C-A c.1363C>A p.Leu455Met Missense 9/21 - 1
4-55592043-C-A c.1367C>A p.Pro456Gln Missense 9/21 - 1
4-55592064-A-G c.1388A>G p.Asn463Ser Missense 9/21 - 3
4-55592065-C-T c.1389C>T p.Asn463Asn Synonymous 9/21 - 1
4-55592067-C-T c.1391C>T p.Ser464Leu Missense 9/21 - 1
4-55592072-G-A c.1396G>A p.Gly466Arg Missense 9/21 - 1
4-55592072-G-C c.1396G>C p.Gly466Arg Missense 9/21 - 1
4-55592075-C-G c.1399C>G p.Pro467Ala Missense 9/21 - 1
4-55592075-C-T c.1399C>T p.Pro467Ser Missense 9/21 - 1
4-55592076-C-A c.1400C>A p.Pro467Gln Missense 9/21 - 1
4-55592079-C-T c.1403C>T p.Pro468Leu Missense 9/21 - 1
4-55592081-T-C c.1405T>C p.Phe469Leu Missense 9/21 - 2
4-55592081-TT-GC c.1405_1406delinsGC p.Phe469Ala Missense 9/21 - 1
4-55592083-T-A c.1407T>A p.Phe469Leu Missense 9/21 - 2
4-55592083-T-G c.1407T>G p.Phe469Leu Missense 9/21 - 2
4-55592096-G-A c.1420G>A p.Val474Ile Missense 9/21 - 1
4-55592097-T-C c.1421T>C p.Val474Ala Missense 9/21 - 1
4-55592102-A-G c.1426A>G p.Ser476Gly Missense 9/21 - 1
4-55592102-A-T c.1426A>T p.Ser476Cys Missense 9/21 - 1
4-55592103-G-T c.1427G>T p.Ser476Ile Missense 9/21 - 11
4-55592115-C-T c.1439C>T p.Ser480Phe Missense 9/21 - 1
4-55592127-A-G c.1451A>G p.Lys484Arg Missense 9/21 - 1
4-55592132-A-G c.1456A>G p.Asn486Asp Missense 9/21 - 1
4-55592133-A-C c.1457A>C p.Asn486Thr Missense 9/21 - 1
4-55592142-T-C c.1466T>C p.Val489Ala Missense 9/21 - 1
4-55592144-G-A c.1468G>A p.Glu490Lys Missense 9/21 - 1
4-55592144-G-C c.1468G>C p.Glu490Gln Missense 9/21 - 1
4-55592144-TGAATGTAAGGCTTACAACGATGTGGGCAAGACTTCTGCCTATTTT-T c.1468_1512del p.Glu490_Phe504del InFrameDeletion 9/21 - 1
4-55592146-A-C c.1470A>C p.Glu490Asp Missense 9/21 - 1
4-55592146-A-T c.1470A>T p.Glu490Asp Missense 9/21 - 1
4-55592148-G-T c.1472G>T p.Cys491Phe Missense 9/21 - 1
4-55592151-A-G c.1475A>G p.Lys492Arg Missense 9/21 - 1
4-55592157-A-C c.1481A>C p.Tyr494Ser Missense 9/21 - 1
4-55592157-A-G c.1481A>G p.Tyr494Cys Missense 9/21 - 1
4-55592162-G-A c.1486G>A p.Asp496Asn Missense 9/21 - 2
4-55592163-A-T c.1487A>T p.Asp496Val Missense 9/21 - 1
4-55592168-G-A c.1492G>A p.Gly498Ser Missense 9/21 - 1
4-55592174-A-T c.1498A>T p.Thr500Ser Missense 9/21 - 2
4-55592183-TA-GC c.1507_1508delinsGC p.Tyr503Ala Missense 9/21 - 1
4-55592183-T-TTTGCCT c.1507_1508insTTGCCT p.Ala502_Tyr503insPheAla InFrameInsertion 9/21 - 1
4-55592184-TATT-T c.1508_1510del p.Tyr503del InFrameDeletion 9/21 - 2
4-55592185-T-TACATAT c.1509_1510insACATAT p.Tyr503_Phe504insThrTyr InFrameInsertion 9/21 - 1
4-55592185-T-TGCATAT c.1509_1510insGCATAT p.Ala502_Tyr503dup InFrameInsertion 9/21 - 3
4-55592186-T-TATGCAT c.1510_1511insATGCAT p.Tyr503_Phe504insTyrAla InFrameInsertion 9/21 - 1
4-55592186-TT-GC c.1510_1511delinsGC p.Phe504Ala Missense 9/21 - 1
4-55592189-AAC-CTTAAGTTTAAGACA c.1513_1515delinsCTTAAGTTTAAGACA p.Asn505delinsLeuLysPheLysThr MultiAAMissense 9/21 - 1
4-55592189-AA-GT c.1513_1514delinsGT p.Asn505Val Missense 9/21 - 1
4-55592189-A-C c.1513A>C p.Asn505His Missense 9/21 - 1
4-55592189-A-G c.1513A>G p.Asn505Asp Missense 9/21 - 1
4-55592190-AC-GG c.1514_1515delinsGG p.Asn505Arg Missense 9/21 - 1
4-55592190-A-T c.1514A>T p.Asn505Ile Missense 9/21 - 4
4-55592192-T-C c.1516T>C p.Phe506Leu Missense 9/21 - 1
4-55592194-T-A c.1518T>A p.Phe506Leu Missense 9/21 - 1
4-55592194-T-G c.1518T>G p.Phe506Leu Missense 9/21 - 1
4-55592195-G-C c.1519G>C p.Ala507Pro Missense 9/21 - 1
4-55592197-A-T c.1521A>T p.Ala507Ala Synonymous 9/21 - 1
4-55592200-T-C c.1524T>C p.Phe508Phe Synonymous 9/21 - 1
4-55592202-A-T c.1526A>T p.Lys509Ile Missense 9/21 - 31
4-55592210-A-G c.1534A>G p.Asn512Asp Missense 9/21 - 2
4-55592213-AA-GC c.1537_1538delinsGC p.Lys513Ala Missense 9/21 - 1
4-55592216-G-T c.1540G>T p.Glu514* Nonsense 9/21 - 1
4-55593392-C-T c.1549C>T p.His517Tyr Missense 10/21 - 1
4-55593408-T-G c.1565T>G p.Phe522Cys Missense 10/21 - 38
4-55593422-A-T c.1579A>T p.Ile527Phe Missense 10/21 - 1
4-55593431-G-A c.1588G>A p.Val530Ile Missense 10/21 - 12
4-55593434-A-G c.1591A>G p.Ile531Val Missense 10/21 - 1
4-55593437-G-A c.1594G>A p.Val532Ile Missense 10/21 - 3
4-55593441-C-A c.1598C>A p.Ala533Asp Missense 10/21 - 12
4-55593443-G-T c.1600G>T p.Gly534Cys Missense 10/21 - 1
4-55593449-A-C c.1606A>C p.Met536Leu Missense 10/21 - 1
4-55593449-A-T c.1606A>T p.Met536Leu Missense 10/21 - 1
4-55593463-G-A c.1620G>A p.Val540Val Synonymous 10/21 - 1
4-55593463-G-C c.1620G>C p.Val540Val Synonymous 10/21 - 1
4-55593463-G-T c.1620G>T p.Val540Val Synonymous 10/21 - 1
4-55593464-A-C c.1621A>C p.Met541Leu Missense 10/21 - 87
4-55593464-A-G c.1621A>G p.Met541Val Missense 10/21 - 3
4-55593464-A-T c.1621A>T p.Met541Leu Missense 10/21 - 63
4-55593467-A-T c.1624A>T p.Ile542Phe Missense 10/21 - 1
4-55593477-A-G c.1634A>G p.Tyr545Cys Missense 10/21 - 1
4-55593480-AA-GG c.1637_1638delinsGG p.Lys546Arg Missense 10/21 - 1
4-55593481-A-G c.1638A>G p.Lys546Lys Synonymous 10/21 - 9
4-55593483-A-G c.1640A>G p.Tyr547Cys Missense 10/21 - 1
4-55593582-AA-CT c.1648_1649delinsCT p.Lys550Leu Missense 11/21 - 2
4-55593582-GAAACCCATG-G c.1648_1656del p.Lys550_Met552del InFrameDeletion 11/21 - 1
4-55593582-GAAACCCATGTATGAA-G c.1648_1662del p.Lys550_Glu554del SpliceAcceptorDeletion 11/21 - 1
4-55593582-GAAACCCATGTATGAAGTACAG-G c.1648_1668del p.Lys550_Gln556del InFrameDeletion 11/21 - 1
4-55593582-GAAACCCATGTATGAAGTACAGTGGAAG-G c.1648_1674del p.Lys550_Lys558del InFrameDeletion 11/21 - 6
4-55593582-GAAACCCATGTATGAAGTACAGTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGT-G c.1648_1706del p.Lys550Leufs*10 InFrameDeletion 11/21 - 1
4-55593582-GAAACCCATGTATGAAGTA-G c.1648_1665del p.Lys550_Val555del InFrameDeletion 11/21 - 2
4-55593583-AAACCCAT-A c.1649_1655del p.Lys550Serfs*12 SpliceAcceptorDeletion 11/21 - 1
4-55593583-AAACCCATGTATGAAG-A c.1649_1663del p.Lys550_Val555delinsIle SpliceAcceptorDeletion 11/21 - 1
4-55593583-AAACCCATGTATGAAGTACAGTGGAA-A c.1649_1673del p.Lys550Argfs*6 SpliceAcceptorDeletion 11/21 - 1
4-55593583-A-T c.1649A>T p.Lys550Ile Missense 11/21 - 3
4-55593584-A-C c.1650A>C p.Lys550Asn Missense 11/21 - 4
4-55593584-A-T c.1650A>T p.Lys550Asn Missense 11/21 - 4
4-55593585-ACCC-A c.1651_1653del p.Pro551del InFrameDeletion 11/21 - 1
4-55593585-ACCCATG-A c.1651_1656del p.Pro551_Met552del InFrameDeletion 11/21 - 1
4-55593585-ACCCATGTATGAA-A c.1651_1662del p.Pro551_Glu554del InFrameDeletion 11/21 - 2
4-55593585-ACCCATGTATGAAG-A c.1651_1663del p.Pro551Tyrfs*9 Frameshift 11/21 - 1
4-55593585-ACCCATGTATGAAGTACAGTGGAAGGTTGTTG-A c.1651_1681del p.Pro551Argfs*3 Frameshift 11/21 - 1
4-55593586-CCCA-C c.1652_1654del p.Pro551_Met552delinsLeu MultiAAMissense 11/21 - 1
4-55593586-CCCATGTATGAAG-C c.1652_1663del p.Pro551_Val555delinsLeu MultiAAMissense 11/21 - 1
4-55593586-CCCATGTATGAAGTACAGTGGA-C c.1652_1672del p.Pro551_Lys558delinsGln MultiAAMissense 11/21 - 1
4-55593586-C-T c.1652C>T p.Pro551Leu Missense 11/21 - 2
4-55593588-A-C c.1654A>C p.Met552Leu Missense 11/21 - 6
4-55593588-A-T c.1654A>T p.Met552Leu Missense 11/21 - 6
4-55593588-CATG-C c.1654_1656del p.Met552del InFrameDeletion 11/21 - 3
4-55593588-CATGTAT-C c.1654_1659del p.Met552_Tyr553del InFrameDeletion 11/21 - 1
4-55593588-CATGTATGAAGTACAG-C c.1654_1668del p.Met552_Gln556del InFrameDeletion 11/21 - 1
4-55593588-CATGTATGAAGTACAGTGGAAG-C c.1654_1674del p.Met552_Lys558del InFrameDeletion 11/21 - 2
4-55593588-CATGTATGAAGTACAGTGGAAGGTT-C c.1654_1677del p.Met552_Val559del InFrameDeletion 11/21 - 1
4-55593588-CATGTATGAAGTACAGTGGAAGGTTGTT-C c.1654_1680del p.Met552_Val560del InFrameDeletion 11/21 - 1
4-55593588-CATGTATGAAGTACAGTGGAAGGTTGTTGAG-C c.1654_1683del p.Met552_Glu561del InFrameDeletion 11/21 - 1
4-55593589-ATGTATG-A c.1655_1660del p.Met552_Glu554delinsLys MultiAAMissense 11/21 - 3
4-55593589-ATGTATGAAGTAC-A c.1655_1666del p.Met552_Gln556delinsLys MultiAAMissense 11/21 - 1
4-55593589-ATGTATGAAGTACAGTGGA-A c.1655_1672del p.Met552_Trp557del InFrameDeletion 11/21 - 3
4-55593589-T-A c.1655T>A p.Met552Lys Missense 11/21 - 1
4-55593589-T-C c.1655T>C p.Met552Thr Missense 11/21 - 1
4-55593590-TGTATGAAGTACAGTGGAAGGT-T c.1656_1676del p.Met552_Val559delinsIle MultiAAMissense 11/21 - 1
4-55593591-GTAT-G c.1657_1659del p.Tyr553del InFrameDeletion 11/21 - 1
4-55593591-GTATGAAGTACAGTGGAAG-G c.1657_1674del p.Tyr553_Lys558del InFrameDeletion 11/21 - 4
4-55593591-GTATGAAGTACAGTGGAAGGTTGTTGAG-G c.1657_1683del p.Tyr553_Glu561del InFrameDeletion 11/21 - 1
4-55593591-GTATGAAGTA-G c.1657_1665del p.Tyr553_Val555del InFrameDeletion 11/21 - 1
4-55593591-T-A c.1657T>A p.Tyr553Asn Missense 11/21 - 7
4-55593591-TA-CT c.1657_1658delinsCT p.Tyr553Leu Missense 11/21 - 1
4-55593591-TAT-AAG c.1657_1659delinsAAG p.Tyr553Lys Missense 11/21 - 1
4-55593592-A-C c.1658A>C p.Tyr553Ser Missense 11/21 - 1
4-55593592-A-G c.1658A>G p.Tyr553Cys Missense 11/21 - 3
4-55593592-AT-GG c.1658_1659delinsGG p.Tyr553Trp Missense 11/21 - 1
4-55593594-G-A c.1660G>A p.Glu554Lys Missense 11/21 - 4
4-55593594-TGAAGTACAGTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGAC-T c.1660_1716del p.Glu554_Asp572del InFrameDeletion 11/21 - 1
4-55593595-GAAG-G c.1661_1663del p.Glu554del InFrameDeletion 11/21 - 3
4-55593595-GAAGTACAGTGGAAGG-G c.1661_1675del p.Glu554_Lys558del InFrameDeletion 11/21 - 1
4-55593595-GAAGTACAGTGGAAGGTTG-G c.1661_1678del p.Glu554_Val559del InFrameDeletion 11/21 - 1
4-55593595-GAAGTACAGTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATG-G c.1661_1705del p.Glu554_Tyr568del InFrameDeletion 11/21 - 1
4-55593596-A-C c.1662A>C p.Glu554Asp Missense 11/21 - 1
4-55593596-A-T c.1662A>T p.Glu554Asp Missense 11/21 - 1
4-55593597-AGTA-A c.1663_1665del p.Val555del InFrameDeletion 11/21 - 7
4-55593597-AGTACAG-A c.1663_1668del p.Val555_Gln556del InFrameDeletion 11/21 - 2
4-55593597-AGTACAGTGG-A c.1663_1671del p.Val555_Trp557del InFrameDeletion 11/21 - 1
4-55593597-AGTACAGTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTAC-A c.1663_1710del p.Val555_Tyr570del InFrameDeletion 11/21 - 1
4-55593597-AGTACAGTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGAC-A c.1663_1716del p.Val555_Asp572del InFrameDeletion 11/21 - 1
4-55593597-GTA-ATG c.1663_1665delinsATG p.Val555Met Missense 11/21 - 1
4-55593598-GTACAGT-G c.1664_1669del p.Val555_Trp557delinsGly MultiAAMissense 11/21 - 1
4-55593598-T-G c.1664T>G p.Val555Gly Missense 11/21 - 1
4-55593599-TACAGTGGAAGGT-T c.1665_1676del p.Gln556_Val559del InFrameDeletion 11/21 - 1
4-55593599-TACAGTGGAAGGTTGT-T c.1665_1679del p.Gln556_Val560del InFrameDeletion 11/21 - 3
4-55593600-ACAG-A c.1666_1668del p.Gln556del InFrameDeletion 11/21 - 9
4-55593600-ACAGTGG-A c.1666_1671del p.Gln556_Trp557del InFrameDeletion 11/21 - 3
4-55593600-ACAGTGGAAGGTTGTTGAGGAGATA-A c.1666_1689del p.Gln556_Ile563del InFrameDeletion 11/21 - 2
4-55593600-CA-GT c.1666_1667delinsGT p.Gln556Val Missense 11/21 - 1
4-55593600-C-G c.1666C>G p.Gln556Glu Missense 11/21 - 2
4-55593601-CAGT-C c.1667_1669del p.Gln556_Trp557delinsArg MultiAAMissense 11/21 - 2
4-55593602-AGTGGAAGGT-A c.1668_1676del p.Gln556_Val559delinsHis MultiAAMissense 11/21 - 2
4-55593602-AGTGGAAGGTTGT-A c.1668_1679del p.Gln556_Val560delinsHis MultiAAMissense 11/21 - 1
4-55593602-AGTGGAAGGTTGTTGAGGAG-A c.1668_1686del p.Trp557* Frameshift 11/21 - 1
4-55593602-AGTGGAAGGTTGTTGAGGAGATAAA-A c.1668_1691del p.Gln556_Asn564delinsHis MultiAAMissense 11/21 - 1
4-55593602-G-C c.1668G>C p.Gln556His Missense 11/21 - 3
4-55593602-G-T c.1668G>T p.Gln556His Missense 11/21 - 3
4-55593603-GTGGAA-G c.1669_1673del p.Trp557Glyfs*3 Frameshift 11/21 - 1
4-55593603-GTGGAAG-G c.1669_1674del p.Trp557_Lys558del InFrameDeletion 11/21 - 20
4-55593603-GTGGAAGGTT-G c.1669_1677del p.Trp557_Val559del InFrameDeletion 11/21 - 1
4-55593603-GTGGAAGGTTGTT-G c.1669_1680del p.Trp557_Val560del InFrameDeletion 11/21 - 1
4-55593603-GTGGAAGGTTGTTGAG-G c.1669_1683del p.Trp557_Glu561del InFrameDeletion 11/21 - 5
4-55593603-GTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAACACAA-G c.1669_1725del p.Trp557_Gln575del InFrameDeletion 11/21 - 1
4-55593603-GTGGA-G c.1669_1672del p.Trp557Argfs*6 Frameshift 11/21 - 1
4-55593603-GTGG-G c.1669_1671del p.Trp557del InFrameDeletion 11/21 - 4
4-55593603-T-A c.1669T>A p.Trp557Arg Missense 11/21 - 71
4-55593603-T-C c.1669T>C p.Trp557Arg Missense 11/21 - 69
4-55593603-T-G c.1669T>G p.Trp557Gly Missense 11/21 - 29
4-55593603-TG-AC c.1669_1670delinsAC p.Trp557Thr Missense 11/21 - 1
4-55593603-TG-AT c.1669_1670delinsAT p.Trp557Met Missense 11/21 - 1
4-55593604-G-A c.1670G>A p.Trp557* Nonsense 11/21 - 2
4-55593604-G-C c.1670G>C p.Trp557Ser Missense 11/21 - 4
4-55593604-GG-TT c.1670_1671delinsTT p.Trp557Phe Missense 11/21 - 2
4-55593604-TGGAAGG-T c.1670_1675del p.Trp557_Val559delinsPhe MultiAAMissense 11/21 - 12
4-55593604-TGGAAGGTTG-T c.1670_1678del p.Trp557_Val560delinsPhe MultiAAMissense 11/21 - 1
4-55593605-GA-TG c.1671_1672delinsTG p.Trp557_Lys558delinsCysGlu MultiAAMissense 11/21 - 1
4-55593605-G-C c.1671G>C p.Trp557Cys Missense 11/21 - 3
4-55593605-GGAAGGT-G c.1671_1676del p.Trp557_Val559delinsCys MultiAAMissense 11/21 - 3
4-55593605-GGAAGGTTGT-G c.1671_1679del p.Trp557_Val560delinsCys MultiAAMissense 11/21 - 1
4-55593605-GGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGA-G c.1671_1715del p.Trp557_Asp572delinsCys MultiAAMissense 11/21 - 1
4-55593605-G-T c.1671G>T p.Trp557Cys Missense 11/21 - 3
4-55593606-AA-GG c.1672_1673delinsGG p.Lys558Gly Missense 11/21 - 1
4-55593606-A-C c.1672A>C p.Lys558Gln Missense 11/21 - 4
4-55593606-A-G c.1672A>G p.Lys558Glu Missense 11/21 - 3
4-55593606-GAAG-G c.1672_1674del p.Lys558del InFrameDeletion 11/21 - 28
4-55593606-GAAGG-G c.1672_1675del p.Lys558Leufs*5 Frameshift 11/21 - 1
4-55593606-GAAGGTT-G c.1672_1677del p.Lys558_Val559del InFrameDeletion 11/21 - 1
4-55593606-GAAGGTTGTT-G c.1672_1680del p.Lys558_Val560del InFrameDeletion 11/21 - 2
4-55593606-GAAGGTTGTTGAGGAGATAAAT-G c.1672_1692del p.Lys558_Asn564del InFrameDeletion 11/21 - 1
4-55593606-GAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATA-G c.1672_1713del p.Lys558_Ile571del InFrameDeletion 11/21 - 1
4-55593607-AAGGTTGTTGAGGAGA-A c.1673_1687del p.Lys558_Glu562del InFrameDeletion 11/21 - 3
4-55593607-AAGGTTGTTGAGGAGATAAATG-A c.1673_1693del p.Lys558_Gly565delinsArg MultiAAMissense 11/21 - 2
4-55593607-AAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACC-A c.1673_1717del p.Lys558_Pro573delinsThr MultiAAMissense 11/21 - 1
4-55593607-A-G c.1673A>G p.Lys558Arg Missense 11/21 - 2
4-55593607-AG-GC c.1673_1674delinsGC p.Lys558Ser Missense 11/21 - 1
4-55593607-AG-TC c.1673_1674delinsTC p.Lys558Ile Missense 11/21 - 3
4-55593608-AGGT-A c.1674_1676del p.Lys558_Val559delinsAsn MultiAAMissense 11/21 - 1
4-55593608-AGGTTGT-A c.1674_1679del p.Lys558_Val560delinsAsn MultiAAMissense 11/21 - 1
4-55593608-AGGTTGTTGAGGAGATAAATGGA-A c.1674_1695del p.Val559Thrfs*6 Frameshift 11/21 - 2
4-55593608-AGGTTGTTGAGGAGATAAATGGAAA-A c.1674_1697del p.Lys558_Gly565del InFrameDeletion 11/21 - 1
4-55593608-AGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGA-A c.1674_1715del p.Lys558_Asp572delinsAsn MultiAAMissense 11/21 - 1
4-55593608-G-C c.1674G>C p.Lys558Asn Missense 11/21 - 3
4-55593608-G-T c.1674G>T p.Lys558Asn Missense 11/21 - 3
4-55593609-G-A c.1675G>A p.Val559Ile Missense 11/21 - 13
4-55593609-G-C c.1675G>C p.Val559Leu Missense 11/21 - 1
4-55593609-GGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAACA-G c.1675_1722del p.Val559_Thr574del InFrameDeletion 11/21 - 1
4-55593609-G-T c.1675G>T p.Val559Phe Missense 11/21 - 2
4-55593609-GT-CG c.1675_1676delinsCG p.Val559Arg Missense 11/21 - 1
4-55593609-GT-TG c.1675_1676delinsTG p.Val559Cys Missense 11/21 - 2
4-55593609-GTT-TAA c.1675_1677delinsTAA p.Val559* Nonsense 11/21 - 1
4-55593610-GTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA-G c.1676_1720del p.Val559_Thr574delinsAla MultiAAMissense 11/21 - 1
4-55593610-GTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAG-G c.1676_1714del p.Val559_Ile571del InFrameDeletion 11/21 - 1
4-55593610-GTTGTTGAGG-G c.1676_1684del p.Val559_Glu561del InFrameDeletion 11/21 - 1
4-55593610-GTTGTTG-G c.1676_1681del p.Val559_Val560del InFrameDeletion 11/21 - 2
4-55593610-T-A c.1676T>A p.Val559Asp Missense 11/21 - 107
4-55593610-T-C c.1676T>C p.Val559Ala Missense 11/21 - 63
4-55593610-T-G c.1676T>G p.Val559Gly Missense 11/21 - 27
4-55593612-G-A c.1678G>A p.Val560Ile Missense 11/21 - 2
4-55593612-G-T c.1678G>T p.Val560Phe Missense 11/21 - 1
4-55593612-TGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAACACAACTT-T c.1678_1728del p.Val560_Leu576del InFrameDeletion 11/21 - 4
4-55593613-GTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAACACAACTTCCTTATG-G c.1679_1735del p.Val560_Tyr578del InFrameDeletion 11/21 - 5
4-55593613-GTTG-G c.1679_1681del p.Val560del InFrameDeletion 11/21 - 37
4-55593613-T-A c.1679T>A p.Val560Asp Missense 11/21 - 110
4-55593613-T-C c.1679T>C p.Val560Ala Missense 11/21 - 2
4-55593613-T-G c.1679T>G p.Val560Gly Missense 11/21 - 107
4-55593613-TT-AG c.1679_1680delinsAG p.Val560Glu Missense 11/21 - 11
4-55593614-T-G c.1680T>G p.Val560Val Synonymous 11/21 - 1
4-55593615-G-A c.1681G>A p.Glu561Lys Missense 11/21 - 8
4-55593615-GA-CC c.1681_1682delinsCC p.Glu561Pro Missense 11/21 - 1
4-55593615-GAG-CTTCAA c.1681_1683delinsCTTCAA p.Glu561delinsLeuGln MultiAAMissense 11/21 - 1
4-55593618-G-A c.1684G>A p.Glu562Lys Missense 11/21 - 1
4-55593618-GGAGATAAATGGAAACAATTATGTTTACATAGACCCAACACAACTT-G c.1684_1728del p.Glu562_Leu576del InFrameDeletion 11/21 - 1
4-55593618-GGAG-G c.1684_1686del p.Glu562del InFrameDeletion 11/21 - 11
4-55593618-G-T c.1684G>T p.Glu562* Nonsense 11/21 - 1
4-55593619-A-T c.1685A>T p.Glu562Val Missense 11/21 - 2
4-55593620-G-C c.1686G>C p.Glu562Asp Missense 11/21 - 2
4-55593620-G-T c.1686G>T p.Glu562Asp Missense 11/21 - 2
4-55593621-GATAAATGGAAACAATTATGTTTACATAGACCCAACACAA-G c.1687_1725del p.Ile563_Gln575del InFrameDeletion 11/21 - 1
4-55593622-ATAA-A c.1688_1690del p.Ile563del InFrameDeletion 11/21 - 1
4-55593622-ATAAATGGAAACAATTATGTTTACATAGACCCAA-A c.1688_1720del p.Ile563_Pro573del InFrameDeletion 11/21 - 1
4-55593622-T-A c.1688T>A p.Ile563Lys Missense 11/21 - 3
4-55593623-A-G c.1689A>G p.Ile563Met Missense 11/21 - 1
4-55593624-AAAT-A c.1690_1692del p.Asn564del InFrameDeletion 11/21 - 1
4-55593624-AAATGGAAACAATTATGTTTACATAGACCCAACACAACTT-A c.1690_1728del p.Asn564_Leu576del InFrameDeletion 11/21 - 1
4-55593624-A-G c.1690A>G p.Asn564Asp Missense 11/21 - 1
4-55593625-A-G c.1691A>G p.Asn564Ser Missense 11/21 - 1
4-55593625-A-T c.1691A>T p.Asn564Ile Missense 11/21 - 1
4-55593626-T-A c.1692T>A p.Asn564Lys Missense 11/21 - 1
4-55593626-T-G c.1692T>G p.Asn564Lys Missense 11/21 - 1
4-55593627-G-A c.1693G>A p.Gly565Arg Missense 11/21 - 2
4-55593627-GG-CC c.1693_1694inv p.Gly565Pro Missense 11/21 - 1
4-55593627-TGGAAACAATTATGTTTACATAGACCCAACACAACTT-T c.1693_1728del p.Gly565_Leu576del InFrameDeletion 11/21 - 2
4-55593627-TGGAAACAATTATGTTTACATAGACCCA-T c.1693_1719del p.Gly565_Pro573del InFrameDeletion 11/21 - 1
4-55593627-TGGA-T c.1693_1695del p.Gly565del InFrameDeletion 11/21 - 4
4-55593628-G-T c.1694G>T p.Gly565Val Missense 11/21 - 4
4-55593630-AAACAATTATGTTTACATAGACCCAACA-A c.1696_1722del p.Asn566_Thr574del InFrameDeletion 11/21 - 1
4-55593630-A-G c.1696A>G p.Asn566Asp Missense 11/21 - 3
4-55593630-A-T c.1696A>T p.Asn566Tyr Missense 11/21 - 1
4-55593631-A-C c.1697A>C p.Asn566Thr Missense 11/21 - 1
4-55593632-ACAA-A c.1698_1700del p.Asn567del InFrameDeletion 11/21 - 1
4-55593633-CAATTATGTTTACATAGACCCAACA-C c.1699_1722del p.Asn567_Thr574del InFrameDeletion 11/21 - 1
4-55593634-AATTATGTTTACATAGACCCAACA-A c.1700_1722del p.Asn567Thrfs*5 Frameshift 11/21 - 2
4-55593634-AATTATGTTTACATAGACCCAACACAAC-A c.1700_1726del p.Asn567_Leu576delinsIle MultiAAMissense 11/21 - 1
4-55593634-A-G c.1700A>G p.Asn567Ser Missense 11/21 - 1
4-55593634-A-T c.1700A>T p.Asn567Ile Missense 11/21 - 1
4-55593636-T-G c.1702T>G p.Tyr568Asp Missense 11/21 - 7
4-55593637-A-C c.1703A>C p.Tyr568Ser Missense 11/21 - 1
4-55593637-A-T c.1703A>T p.Tyr568Phe Missense 11/21 - 3
4-55593639-G-A c.1705G>A p.Val569Ile Missense 11/21 - 1
4-55593639-G-C c.1705G>C p.Val569Leu Missense 11/21 - 1
4-55593640-GTTTACATAGACCCAACACAACTTCCTTATG-G c.1706_1735del p.Val569_Tyr578del InFrameDeletion 11/21 - 1
4-55593640-T-C c.1706T>C p.Val569Ala Missense 11/21 - 2
4-55593640-T-G c.1706T>G p.Val569Gly Missense 11/21 - 3
4-55593642-T-C c.1708T>C p.Tyr570His Missense 11/21 - 1
4-55593642-TTACATAGACCCAACACAACTT-T c.1708_1728del p.Tyr570_Leu576del InFrameDeletion 11/21 - 6
4-55593643-A-T c.1709A>T p.Tyr570Phe Missense 11/21 - 2
4-55593645-A-C c.1711A>C p.Ile571Leu Missense 11/21 - 2
4-55593645-A-G c.1711A>G p.Ile571Val Missense 11/21 - 1
4-55593645-A-T c.1711A>T p.Ile571Leu Missense 11/21 - 2
4-55593645-AT-GC c.1711_1712delinsGC p.Ile571Ala Missense 11/21 - 1
4-55593645-CATA-C c.1711_1713del p.Ile571del InFrameDeletion 11/21 - 1
4-55593646-T-C c.1712T>C p.Ile571Thr Missense 11/21 - 1
4-55593648-G-A c.1714G>A p.Asp572Asn Missense 11/21 - 1
4-55593649-A-C c.1715A>C p.Asp572Ala Missense 11/21 - 3
4-55593649-A-G c.1715A>G p.Asp572Gly Missense 11/21 - 3
4-55593650-C-A c.1716C>A p.Asp572Glu Missense 11/21 - 1
4-55593650-C-G c.1716C>G p.Asp572Glu Missense 11/21 - 1
4-55593651-CCCA-C c.1717_1719del p.Pro573del InFrameDeletion 11/21 - 1
4-55593651-C-T c.1717C>T p.Pro573Ser Missense 11/21 - 1
4-55593652-C-T c.1718C>T p.Pro573Leu Missense 11/21 - 1
4-55593654-AACA-A c.1720_1722del p.Thr574del InFrameDeletion 11/21 - 5
4-55593654-A-G c.1720A>G p.Thr574Ala Missense 11/21 - 1
4-55593655-ACACAACTTCCTTATGATCACA-A c.1721_1741del p.Thr574_His580del InFrameDeletion 11/21 - 1
4-55593655-C-T c.1721C>T p.Thr574Ile Missense 11/21 - 2
4-55593656-A-AAAG c.1722_1723insAAG p.Thr574_Gln575insLys InFrameInsertion 11/21 - 1
4-55593656-CACAACTTCC-C c.1722_1730del p.Gln575_Pro577del InFrameDeletion 11/21 - 1
4-55593657-C-G c.1723C>G p.Gln575Glu Missense 11/21 - 1
4-55593658-A-T c.1724A>T p.Gln575Leu Missense 11/21 - 1
4-55593658-CAAC-C c.1724_1726del p.Gln575del InFrameDeletion 11/21 - 3
4-55593659-A-C c.1725A>C p.Gln575His Missense 11/21 - 1
4-55593659-A-T c.1725A>T p.Gln575His Missense 11/21 - 1
4-55593660-C-CC c.1726dup p.Leu576Profs*4 Frameshift 11/21 - 1
4-55593660-C-G c.1726C>G p.Leu576Val Missense 11/21 - 1
4-55593660-C-T c.1726C>T p.Leu576Phe Missense 11/21 - 1
4-55593660-CT-AA c.1726_1727delinsAA p.Leu576Asn Missense 11/21 - 1
4-55593660-CTT-TGTGTA c.1726_1728delinsTGTGTA p.Leu576delinsCysVal MultiAAMissense 11/21 - 1
4-55593661-CTTC-C c.1727_1729del p.Leu576del InFrameDeletion 11/21 - 17
4-55593661-T-A c.1727T>A p.Leu576His Missense 11/21 - 1
4-55593661-T-C c.1727T>C p.Leu576Pro Missense 11/21 - 181
4-55593663-C-T c.1729C>T p.Pro577Ser Missense 11/21 - 1
4-55593663-TCCT-T c.1729_1731del p.Pro577del InFrameDeletion 11/21 - 5
4-55593664-CCTTATGATC-C c.1730_1738del p.Pro577_Asp579del InFrameDeletion 11/21 - 2
4-55593664-C-T c.1730C>T p.Pro577Leu Missense 11/21 - 1
4-55593666-TA-CC c.1732_1733delinsCC p.Tyr578Pro Missense 11/21 - 1
4-55593666-TA-GG c.1732_1733delinsGG p.Tyr578Gly Missense 11/21 - 1
4-55593666-TTAT-T c.1732_1734del p.Tyr578del InFrameDeletion 11/21 - 2
4-55593667-A-G c.1733A>G p.Tyr578Cys Missense 11/21 - 3
4-55593667-A-T c.1733A>T p.Tyr578Phe Missense 11/21 - 1
4-55593669-TGAT-T c.1735_1737del p.Asp579del InFrameDeletion 11/21 - 29
4-55593672-C-T c.1738C>T p.His580Tyr Missense 11/21 - 2
4-55593672-TCACAAATGGGAGTTTCCC-T c.1738_1755del p.His580_Pro585del InFrameDeletion 11/21 - 1
4-55593673-A-AACAACTTCCTTATGACCA c.1739_1740insACAACTTCCTTATGACCA p.Asp579_His580insGlnGlnLeuProTyrAsp InFrameInsertion 11/21 - 1
4-55593673-A-T c.1739A>T p.His580Leu Missense 11/21 - 1
4-55593674-C-T c.1740C>T p.His580His Synonymous 11/21 - 1
4-55593678-ATGG-A c.1744_1746del p.Trp582del InFrameDeletion 11/21 - 1
4-55593678-TG-CA c.1744_1745inv p.Trp582Gln Missense 11/21 - 1
4-55593678-TGG-CAT c.1744_1746delinsCAT p.Trp582His Missense 11/21 - 1
4-55593679-G-A c.1745G>A p.Trp582* Nonsense 11/21 - 2
4-55593679-G-C c.1745G>C p.Trp582Ser Missense 11/21 - 1
4-55593679-GG-AT c.1745_1746delinsAT p.Trp582Tyr Missense 11/21 - 1
4-55593679-G-T c.1745G>T p.Trp582Leu Missense 11/21 - 1
4-55593681-G-A c.1747G>A p.Glu583Lys Missense 11/21 - 2
4-55593683-G-C c.1749G>C p.Glu583Asp Missense 11/21 - 1
4-55593683-G-T c.1749G>T p.Glu583Asp Missense 11/21 - 1
4-55593684-T-C c.1750T>C p.Phe584Leu Missense 11/21 - 4
4-55593684-TT-AA c.1750_1751inv p.Phe584Asn Missense 11/21 - 1
4-55593686-T-A c.1752T>A p.Phe584Leu Missense 11/21 - 4
4-55593686-T-G c.1752T>G p.Phe584Leu Missense 11/21 - 4
4-55593685-T-C c.1751T>C p.Phe584Ser Missense 11/21 - 5
4-55593687-C-T c.1753C>T p.Pro585Ser Missense 11/21 - 1
4-55593689-C-T c.1755C>T p.Pro585Pro Synonymous 11/21 - 10
4-55593690-AGA-TGT c.1756_1758delinsTGT p.Arg586Cys Missense 11/21 - 1
4-55593696-AGG-TAT c.1762_1764delinsTAT p.Arg588Tyr Missense 11/21 - 1
4-55593696-AGG-TTT c.1762_1764delinsTTT p.Arg588Phe Missense 11/21 - 1
4-55593697-G-A c.1763G>A p.Arg588Lys Missense 11/21 - 1
4-55593697-G-T c.1763G>T p.Arg588Met Missense 11/21 - 1
4-55593699-C-A c.1765C>A p.Leu589Met Missense 11/21 - 1
4-55593703-G-C c.1769G>C p.Ser590Thr Missense 11/21 - 1
4-55593703-G-T c.1769G>T p.Ser590Ile Missense 11/21 - 1
4-55593705-T-C c.1771T>C p.Phe591Leu Missense 11/21 - 2
4-55593707-T-A c.1773T>A p.Phe591Leu Missense 11/21 - 2
4-55593707-T-G c.1773T>G p.Phe591Leu Missense 11/21 - 2
4-55593995-C-T c.1781C>T p.Thr594Ile Missense 12/21 - 1
4-55594000-G-C c.1786G>C p.Gly596Arg Missense 12/21 - 1
4-55594021-G-C c.1807G>C p.Val603Leu Missense 12/21 - 1
4-55594034-C-T c.1820C>T p.Thr607Ile Missense 12/21 - 3
4-55594037-C-A c.1823C>A p.Ala608Asp Missense 12/21 - 1
4-55594043-G-A c.1829G>A p.Gly610Asp Missense 12/21 - 4
4-55594046-T-C c.1832T>C p.Leu611Ser Missense 12/21 - 1
4-55594063-G-T c.1849G>T p.Ala617Ser Missense 12/21 - 1
4-55594068-G-A c.1854G>A p.Met618Ile Missense 12/21 - 1
4-55594068-G-C c.1854G>C p.Met618Ile Missense 12/21 - 1
4-55594068-G-T c.1854G>T p.Met618Ile Missense 12/21 - 1
4-55594069-A-G c.1855A>G p.Thr619Ala Missense 12/21 - 1
4-55594076-C-A c.1862C>A p.Ala621Asp Missense 12/21 - 1
4-55594081-AA-GC c.1867_1868delinsGC p.Lys623Ala Missense 12/21 - 2
4-55594082-A-T c.1868A>T p.Lys623Met Missense 12/21 - 1
4-55594177-C-T c.1880C>T p.Pro627Leu Missense 13/21 - 1
4-55594180-G-A c.1883G>A p.Ser628Asn Missense 13/21 - 1
4-55594185-C-T c.1888C>T p.His630Tyr Missense 13/21 - 1
4-55594192-C-T c.1895C>T p.Thr632Ile Missense 13/21 - 1
4-55594194-G-A c.1897G>A p.Glu633Lys Missense 13/21 - 1
4-55594196-A-G c.1899A>G p.Glu633Glu Synonymous 13/21 - 1
4-55594197-C-T c.1900C>T p.Arg634Trp Missense 13/21 - 11
4-55594198-G-A c.1901G>A p.Arg634Gln Missense 13/21 - 2
4-55594201-A-G c.1904A>G p.Glu635Gly Missense 13/21 - 1
4-55594204-C-T c.1907C>T p.Ala636Val Missense 13/21 - 1
4-55594209-A-G c.1912A>G p.Met638Val Missense 13/21 - 1
4-55594212-T-C c.1915T>C p.Ser639Pro Missense 13/21 - 1
4-55594217-A-T c.1920A>T p.Glu640Asp Missense 13/21 - 3
4-55594219-T-A c.1922T>A p.Leu641His Missense 13/21 - 1
4-55594221-AAAGTCCTGAGTT-GAAGTCCTGAGTC c.1924_1936delinsGAAGTCCTGAGTC p.Lys642_Tyr646delinsGluValLeuSerHis MultiAAMissense 13/21 - 1
4-55594221-A-C c.1924A>C p.Lys642Gln Missense 13/21 - 1
4-55594221-A-G c.1924A>G p.Lys642Glu Missense 13/21 - 174
4-55594222-A-C c.1925A>C p.Lys642Thr Missense 13/21 - 2
4-55594222-A-G c.1925A>G p.Lys642Arg Missense 13/21 - 2
4-55594225-T-C c.1928T>C p.Val643Ala Missense 13/21 - 1
4-55594232-T-C c.1935T>C p.Ser645Ser Synonymous 13/21 - 1
4-55594233-T-C c.1936T>C p.Tyr646His Missense 13/21 - 1
4-55594233-T-G c.1936T>G p.Tyr646Asp Missense 13/21 - 1
4-55594234-A-G c.1937A>G p.Tyr646Cys Missense 13/21 - 1
4-55594236-C-T c.1939C>T p.Leu647Phe Missense 13/21 - 1
4-55594240-GT-AG c.1943_1944delinsAG p.Gly648Glu Missense 13/21 - 1
4-55594242-A-G c.1945A>G p.Asn649Asp Missense 13/21 - 1
4-55594250-G-A c.1953G>A p.Met651Ile Missense 13/21 - 1
4-55594250-G-C c.1953G>C p.Met651Ile Missense 13/21 - 1
4-55594250-G-T c.1953G>T p.Met651Ile Missense 13/21 - 1
4-55594257-G-A c.1960G>A p.Val654Met Missense 13/21 - 1
4-55594258-T-A c.1961T>A p.Val654Glu Missense 13/21 - 1
4-55594258-T-C c.1961T>C p.Val654Ala Missense 13/21 - 107
4-55594261-A-C c.1964A>C p.Asn655Thr Missense 13/21 - 4
4-55594261-A-G c.1964A>G p.Asn655Ser Missense 13/21 - 2
4-55594262-T-G c.1965T>G p.Asn655Lys Missense 13/21 - 9
4-55594266-C-T c.1969C>T p.Leu657Phe Missense 13/21 - 1
4-55594270-G-A c.1973G>A p.Gly658Glu Missense 13/21 - 2
4-55594274-C-A c.1977C>A p.Ala659Ala Synonymous 13/21 - 1
4-55594284-G-A c.1987G>A p.Gly663Arg Missense 13/21 - 1
4-55594284-G-C c.1987G>C p.Gly663Arg Missense 13/21 - 1
4-55594287-G-A c.1990G>A p.Gly664Arg Missense 13/21 - 4
4-55594287-G-C c.1990G>C p.Gly664Arg Missense 13/21 - 4
4-55595503-C-T c.1993C>T p.Pro665Ser Missense 14/21 - 1
4-55595506-AC-CT c.1996_1997delinsCT p.Thr666Leu Missense 14/21 - 1
4-55595507-C-T c.1997C>T p.Thr666Ile Missense 14/21 - 1
4-55595508-C-A c.1998C>A p.Thr666Thr Synonymous 14/21 - 1
4-55595510-T-G c.2000T>G p.Leu667Arg Missense 14/21 - 1
4-55595518-A-C c.2008A>C p.Thr670Pro Missense 14/21 - 1
4-55595518-AC-GA c.2008_2009delinsGA p.Thr670Glu Missense 14/21 - 3
4-55595518-AC-GT c.2008_2009inv p.Thr670Val Missense 14/21 - 1
4-55595518-A-G c.2008A>G p.Thr670Ala Missense 14/21 - 2
4-55595518-A-T c.2008A>T p.Thr670Ser Missense 14/21 - 1
4-55595519-C-A c.2009C>A p.Thr670Lys Missense 14/21 - 2
4-55595519-C-G c.2009C>G p.Thr670Arg Missense 14/21 - 1
4-55595519-C-T c.2009C>T p.Thr670Ile Missense 14/21 - 105
4-55595525-A-C c.2015A>C p.Tyr672Ser Missense 14/21 - 1
4-55595525-A-G c.2015A>G p.Tyr672Cys Missense 14/21 - 1
4-55595531-G-A c.2021G>A p.Cys674Tyr Missense 14/21 - 1
4-55595534-A-C c.2024A>C p.Tyr675Ser Missense 14/21 - 1
4-55595537-GG-G c.2027del p.Gly676Valfs*4 Frameshift 14/21 - 1
4-55595539-G-A c.2029G>A p.Asp677Asn Missense 14/21 - 1
4-55595550-T-G c.2040T>G p.Asn680Lys Missense 14/21 - 3
4-55595551-T-A c.2041T>A p.Phe681Ile Missense 14/21 - 2
4-55595573-C-T c.2063C>T p.Ser688Leu Missense 14/21 - 1
4-55595585-C-T c.2075C>T p.Ser692Leu Missense 14/21 - 2
4-55595587-A-G c.2077A>G p.Lys693Glu Missense 14/21 - 1
4-55595593-G-A c.2083G>A p.Glu695Lys Missense 14/21 - 1
4-55595596-GA-CG c.2086_2087delinsCG p.Asp696Arg Missense 14/21 - 1
4-55595598-T-A c.2088T>A p.Asp696Glu Missense 14/21 - 1
4-55595598-T-G c.2088T>G p.Asp696Glu Missense 14/21 - 1
4-55595599-C-A c.2089C>A p.His697Asn Missense 14/21 - 1
4-55595599-C-T c.2089C>T p.His697Tyr Missense 14/21 - 3
4-55595601-T-A c.2091T>A p.His697Gln Missense 14/21 - 1
4-55595601-T-G c.2091T>G p.His697Gln Missense 14/21 - 1
4-55595618-A-T c.2108A>T p.Tyr703Phe Missense 14/21 - 1
4-55595622-G-A c.2112G>A p.Lys704Lys Synonymous 14/21 - 1
4-55595623-GAAT-G c.2113_2115del p.Asn705del InFrameDeletion 14/21 - 1
4-55595626-C-T c.2116C>T p.Leu706Phe Missense 14/21 - 1
4-55595633-A-T c.2123A>T p.His708Leu Missense 14/21 - 1
4-55595635-T-G c.2125T>G p.Ser709Ala Missense 14/21 - 1
4-55595636-CA-TT c.2126_2127delinsTT p.Ser709Phe Missense 14/21 - 3
4-55595639-A-C c.2129A>C p.Lys710Thr Missense 14/21 - 1
4-55595644-T-C c.2134T>C p.Ser712Pro Missense 14/21 - 1
4-55597495-CAGC-C c.2143_2145del p.Ser715del InFrameDeletion 15/21 - 1
4-55597496-G-A c.2144G>A p.Ser715Asn Missense 15/21 - 1
4-55597498-G-A c.2146G>A p.Asp716Asn Missense 15/21 - 1
4-55597505-C-G c.2153C>G p.Thr718Ser Missense 15/21 - 1
4-55597510-G-A c.2158G>A p.Glu720Lys Missense 15/21 - 1
4-55597514-A-G c.2162A>G p.Tyr721Cys Missense 15/21 - 1
4-55597516-A-G c.2164A>G p.Met722Val Missense 15/21 - 1
4-55597518-G-A c.2166G>A p.Met722Ile Missense 15/21 - 1
4-55597518-G-C c.2166G>C p.Met722Ile Missense 15/21 - 1
4-55597518-G-T c.2166G>T p.Met722Ile Missense 15/21 - 1
4-55597524-G-A c.2172G>A p.Met724Ile Missense 15/21 - 1
4-55597524-G-C c.2172G>C p.Met724Ile Missense 15/21 - 1
4-55597524-G-T c.2172G>T p.Met724Ile Missense 15/21 - 1
4-55597559-C-T c.2207C>T p.Ala736Val Missense 15/21 - 1
4-55597561-G-A c.2209G>A p.Asp737Asn Missense 15/21 - 1
4-55597571-G-A c.2219G>A p.Arg740Lys Missense 15/21 - 1
4-55598046-T-C c.2243T>C p.Ile748Thr Missense 16/21 - 2
4-55598054-G-T c.2251G>T p.Asp751Tyr Missense 16/21 - 2
4-55598066-G-A c.2263G>A p.Ala755Thr Missense 16/21 - 3
4-55598082-A-T c.2279A>T p.Asp760Val Missense 16/21 - 1
4-55598084-G-A c.2281G>A p.Glu761Lys Missense 16/21 - 1
4-55598100-T-C c.2297T>C p.Leu766Ser Missense 16/21 - 1
4-55598126-C-A c.2323C>A p.Gln775Lys Missense 16/21 - 1
4-55598137-G-C c.2334G>C p.Lys778Asn Missense 16/21 - 1
4-55598137-G-T c.2334G>T p.Lys778Asn Missense 16/21 - 1
4-55598145-C-T c.2342C>T p.Ala781Val Missense 16/21 - 1
4-55598148-T-C c.2345T>C p.Phe782Ser Missense 16/21 - 1
4-55598150-C-A c.2347C>A p.Leu783Ile Missense 16/21 - 1
4-55598150-C-G c.2347C>G p.Leu783Val Missense 16/21 - 1
4-55598161-G-C c.2358G>C p.Lys786Asn Missense 16/21 - 1
4-55598161-G-T c.2358G>T p.Lys786Asn Missense 16/21 - 1
4-55598162-A-G c.2359A>G p.Asn787Asp Missense 16/21 - 1
4-55599159-G-A c.2362-77G>A - IntronicSNV - 16/20 3
4-55599237-G-A c.2363G>A p.Cys788Tyr Missense 17/21 - 1
4-55599241-T-A c.2367T>A p.Ile789Ile Synonymous 17/21 - 1
4-55599241-T-C c.2367T>C p.Ile789Ile Synonymous 17/21 - 1
4-55599243-A-G c.2369A>G p.His790Arg Missense 17/21 - 1
4-55599245-A-G c.2371A>G p.Arg791Gly Missense 17/21 - 4
4-55599250-C-A c.2376C>A p.Asp792Glu Missense 17/21 - 2
4-55599250-C-G c.2376C>G p.Asp792Glu Missense 17/21 - 2
4-55599252-T-C c.2378T>C p.Leu793Ser Missense 17/21 - 1
4-55599254-G-A c.2380G>A p.Ala794Thr Missense 17/21 - 1
4-55599260-A-G c.2386A>G p.Arg796Gly Missense 17/21 - 4
4-55599260-A-T c.2386A>T p.Arg796* Nonsense 17/21 - 1
4-55599262-A-C c.2388A>C p.Arg796Ser Missense 17/21 - 1
4-55599262-A-T c.2388A>T p.Arg796Ser Missense 17/21 - 1
4-55599268-C-A c.2394C>A p.Ile798Ile Synonymous 17/21 - 7
4-55599268-C-T c.2394C>T p.Ile798Ile Synonymous 17/21 - 8
4-55599276-C-T c.2402C>T p.Thr801Ile Missense 17/21 - 2
4-55599278-C-T c.2404C>T p.His802Tyr Missense 17/21 - 1
4-55599281-G-T c.2407G>T p.Gly803Cys Missense 17/21 - 1
4-55599285-G-A c.2411G>A p.Arg804Gln Missense 17/21 - 1
4-55599299-T-A c.2425T>A p.Cys809Ser Missense 17/21 - 1
4-55599299-T-C c.2425T>C p.Cys809Arg Missense 17/21 - 1
4-55599299-T-G c.2425T>G p.Cys809Gly Missense 17/21 - 5
4-55599300-G-C c.2426G>C p.Cys809Ser Missense 17/21 - 1
4-55599301-T-C c.2427T>C p.Cys809Cys Synonymous 17/21 - 1
4-55599305-T-G c.2431T>G p.Phe811Val Missense 17/21 - 2
4-55599307-T-C c.2433T>C p.Phe811Phe Synonymous 17/21 - 1
4-55599309-G-A c.2435G>A p.Gly812Asp Missense 17/21 - 1
4-55599309-G-T c.2435G>T p.Gly812Val Missense 17/21 - 1
4-55599312-T-C c.2438T>C p.Leu813Pro Missense 17/21 - 1
4-55599314-G-A c.2440G>A p.Ala814Thr Missense 17/21 - 1
4-55599314-GC-TG c.2440_2441delinsTG p.Ala814Cys Missense 17/21 - 1
4-55599314-G-T c.2440G>T p.Ala814Ser Missense 17/21 - 3
4-55599315-C-T c.2441C>T p.Ala814Val Missense 17/21 - 2
4-55599316-C-A c.2442C>A p.Ala814Ala Synonymous 17/21 - 1
4-55599316-C-G c.2442C>G p.Ala814Ala Synonymous 17/21 - 1
4-55599316-C-T c.2442C>T p.Ala814Ala Synonymous 17/21 - 1
4-55599318-G-A c.2444G>A p.Arg815Lys Missense 17/21 - 4
4-55599318-G-T c.2444G>T p.Arg815Ile Missense 17/21 - 1
4-55599319-AGACA-GTTAC c.2445_2449delinsGTTAC p.Asp816_Ile817delinsLeuLeu MultiAAMissense 17/21 - 1
4-55599320-G-A c.2446G>A p.Asp816Asn Missense 17/21 - 5
4-55599320-GA-AC c.2446_2447delinsAC p.Asp816Thr Missense 17/21 - 1
4-55599320-GA-AT c.2446_2447delinsAT p.Asp816Ile Missense 17/21 - 7
4-55599320-GAC-ATG c.2446_2448delinsATG p.Asp816Met Missense 17/21 - 1
4-55599320-GA-CT c.2446_2447delinsCT p.Asp816Leu Missense 17/21 - 2
4-55599320-GAC-TAA c.2446_2448delinsTAA p.Asp816* Nonsense 17/21 - 3
4-55599320-GA-TT c.2446_2447delinsTT p.Asp816Phe Missense 17/21 - 19
4-55599320-G-C c.2446G>C p.Asp816His Missense 17/21 - 106
4-55599320-G-T c.2446G>T p.Asp816Tyr Missense 17/21 - 75
4-55599321-A-C c.2447A>C p.Asp816Ala Missense 17/21 - 7
4-55599321-A-G c.2447A>G p.Asp816Gly Missense 17/21 - 13
4-55599321-A-T c.2447A>T p.Asp816Val Missense 17/21 - 623
4-55599322-C-A c.2448C>A p.Asp816Glu Missense 17/21 - 9
4-55599322-C-G c.2448C>G p.Asp816Glu Missense 17/21 - 9
4-55599323-A-C c.2449A>C p.Ile817Leu Missense 17/21 - 3
4-55599323-A-G c.2449A>G p.Ile817Val Missense 17/21 - 2
4-55599323-A-T c.2449A>T p.Ile817Phe Missense 17/21 - 1
4-55599325-C-G c.2451C>G p.Ile817Met Missense 17/21 - 1
4-55599326-A-T c.2452A>T p.Lys818* Nonsense 17/21 - 1
4-55599327-A-G c.2453A>G p.Lys818Arg Missense 17/21 - 3
4-55599328-AGAATGA-A c.2454_2459del p.Lys818_Asp820delinsAsn MultiAAMissense 17/21 - 1
4-55599332-G-A c.2458G>A p.Asp820Asn Missense 17/21 - 1
4-55599332-G-C c.2458G>C p.Asp820His Missense 17/21 - 1
4-55599332-G-T c.2458G>T p.Asp820Tyr Missense 17/21 - 68
4-55599333-A-C c.2459A>C p.Asp820Ala Missense 17/21 - 43
4-55599333-A-G c.2459A>G p.Asp820Gly Missense 17/21 - 43
4-55599333-A-T c.2459A>T p.Asp820Val Missense 17/21 - 8
4-55599334-T-A c.2460T>A p.Asp820Glu Missense 17/21 - 21
4-55599336-C-T c.2462C>T p.Ser821Phe Missense 17/21 - 4
4-55599338-AA-CT c.2464_2465delinsCT p.Asn822Leu Missense 17/21 - 1
4-55599338-AA-GT c.2464_2465delinsGT p.Asn822Val Missense 17/21 - 1
4-55599338-A-C c.2464A>C p.Asn822His Missense 17/21 - 9
4-55599338-A-G c.2464A>G p.Asn822Asp Missense 17/21 - 1
4-55599338-A-T c.2464A>T p.Asn822Tyr Missense 17/21 - 18
4-55599339-A-C c.2465A>C p.Asn822Thr Missense 17/21 - 2
4-55599339-A-G c.2465A>G p.Asn822Ser Missense 17/21 - 1
4-55599339-A-T c.2465A>T p.Asn822Ile Missense 17/21 - 15
4-55599339-AT-GG c.2465_2466delinsGG p.Asn822Arg Missense 17/21 - 1
4-55599340-T-A c.2466T>A p.Asn822Lys Missense 17/21 - 120
4-55599340-T-G c.2466T>G p.Asn822Lys Missense 17/21 - 119
4-55599341-T-A c.2467T>A p.Tyr823Asn Missense 17/21 - 3
4-55599341-TA-GC c.2467_2468delinsGC p.Tyr823Ala Missense 17/21 - 1
4-55599341-T-G c.2467T>G p.Tyr823Asp Missense 17/21 - 49
4-55599342-A-C c.2468A>C p.Tyr823Ser Missense 17/21 - 1
4-55599342-A-G c.2468A>G p.Tyr823Cys Missense 17/21 - 1
4-55599342-A-T c.2468A>T p.Tyr823Phe Missense 17/21 - 4
4-55599344-G-C c.2470G>C p.Val824Leu Missense 17/21 - 1
4-55599346-G-A c.2472G>A p.Val824Val Synonymous 17/21 - 5
4-55599346-G-C c.2472G>C p.Val824Val Synonymous 17/21 - 5
4-55599346-G-T c.2472G>T p.Val824Val Synonymous 17/21 - 5
4-55599347-G-A c.2473G>A p.Val825Ile Missense 17/21 - 2
4-55599348-T-C c.2474T>C p.Val825Ala Missense 17/21 - 12
4-55599358-C-T c.2484C>T p.Asn828Asn Synonymous 17/21 - 2
4-55599363-G-T c.2484+5G>T - IntronicSNV - 17/20 1
4-55599436-T-C c.2484+78T>C - IntronicSNV - 17/20 1
4-55602662-A-T c.2485-2A>T - IntronicSNV - 17/20 1
4-55602664-G-A c.2485G>A p.Ala829Thr Missense 18/21 - 1
4-55602664-G-C c.2485G>C p.Ala829Pro Missense 18/21 - 26
4-55602664-G-T c.2485G>T p.Ala829Ser Missense 18/21 - 1
4-55602665-C-G c.2486C>G p.Ala829Gly Missense 18/21 - 1
4-55602666-T-A c.2487T>A p.Ala829Ala Synonymous 18/21 - 1
4-55602667-C-T c.2488C>T p.Arg830* Nonsense 18/21 - 1
4-55602671-T-C c.2492T>C p.Leu831Pro Missense 18/21 - 1
4-55602674-C-T c.2495C>T p.Pro832Leu Missense 18/21 - 1
4-55602676-G-A c.2497G>A p.Val833Met Missense 18/21 - 1
4-55602688-G-A c.2509G>A p.Ala837Thr Missense 18/21 - 1
4-55602689-C-T c.2510C>T p.Ala837Val Missense 18/21 - 1
4-55602691-C-T c.2512C>T p.Pro838Ser Missense 18/21 - 2
4-55602692-C-T c.2513C>T p.Pro838Leu Missense 18/21 - 1
4-55602694-G-A c.2515G>A p.Glu839Lys Missense 18/21 - 23
4-55602698-G-A c.2519G>A p.Ser840Asn Missense 18/21 - 1
4-55602700-A-G c.2521A>G p.Ile841Val Missense 18/21 - 2
4-55602703-TTTCAACTGT-T c.2524_2532del p.Phe842_Cys844del InFrameDeletion 18/21 - 1
4-55602710-G-A c.2531G>A p.Cys844Tyr Missense 18/21 - 1
4-55602719-C-T c.2540C>T p.Thr847Met Missense 18/21 - 1
4-55602728-G-T c.2549G>T p.Ser850Ile Missense 18/21 - 1
4-55602733-G-A c.2554G>A p.Val852Ile Missense 18/21 - 2
4-55602752-T-C c.2573T>C p.Phe858Ser Missense 18/21 - 1
4-55602755-T-C c.2576T>C p.Leu859Pro Missense 18/21 - 1
4-55602763-C-G c.2584C>G p.Leu862Val Missense 18/21 - 1
4-55602763-C-T c.2584C>T p.Leu862Leu Synonymous 18/21 - 7
4-55602765-G-A c.2586G>A p.Leu862Leu Synonymous 18/21 - 7
4-55602765-G-C c.2586G>C p.Leu862Leu Synonymous 18/21 - 15
4-55602765-G-T c.2586G>T p.Leu862Leu Synonymous 18/21 - 7
4-55602777-T-C c.2596+2T>C - IntronicSNV - 18/20 1
4-55602891-C-T c.2601C>T p.Ser867Ser Synonymous 19/21 - 1
4-55602910-C-T c.2620C>T p.Pro874Ser Missense 19/21 - 1
4-55602936-G-A c.2646G>A p.Met882Ile Missense 19/21 - 1
4-55602936-G-C c.2646G>C p.Met882Ile Missense 19/21 - 1
4-55602936-G-T c.2646G>T p.Met882Ile Missense 19/21 - 1
4-55602951-C-T c.2661C>T p.Phe887Phe Synonymous 19/21 - 1
4-55602952-C-T c.2662C>T p.Arg888Trp Missense 19/21 - 1
4-55602973-G-A c.2683G>A p.Ala895Thr Missense 19/21 - 1
4-55603372-G-T c.2728G>T p.Asp910Tyr Missense 20/21 - 1
4-55603373-A-C c.2729A>C p.Asp910Ala Missense 20/21 - 4
4-55603376-C-T c.2732C>T p.Pro911Leu Missense 20/21 - 1
4-55603384-A-C c.2740A>C p.Arg914Arg Synonymous 20/21 - 1
4-55603386-A-G c.2742A>G p.Arg914Arg Synonymous 20/21 - 1
4-55603388-C-A c.2744C>A p.Pro915Gln Missense 20/21 - 1
4-55603412-T-C c.2768T>C p.Leu923Pro Missense 20/21 - 1
4-55603414-A-G c.2770A>G p.Ile924Val Missense 20/21 - 1
4-55603415-T-C c.2771T>C p.Ile924Thr Missense 20/21 - 1
4-55604623-C-T c.2831C>T p.Pro944Leu Missense 21/21 - 1
4-55604628-C-T c.2836C>T p.Arg946* Nonsense 21/21 - 1
4-55604659-G-A c.2867G>A p.Arg956Gln Missense 21/21 - 2
4-55604673-G-A c.2881G>A p.Gly961Ser Missense 21/21 - 1
4-55604682-G-A c.2890G>A p.Ala964Thr Missense 21/21 - 1
4-55604692-C-T c.2900C>T p.Ser967Phe Missense 21/21 - 1
4-55604715-G-A c.2923G>A p.Asp975Asn Missense 21/21 - 1
4-55604940-G-A c.*217G>A - 3-UTRSNV 21/21 - 10
4-55606247-A-G c.*1524A>G - 3-UTRSNV 21/21 - 1