CP ceruloplasmin

Canonical transcript: NM_000096

631 unique variant annotations were identified in 579 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
3-148890992-T-G c.*509A>C - 3-UTRSNV 19/19 - 1
3-148891364-G-A c.*137C>T - 3-UTRSNV 19/19 - 1
3-148894037-C-T c.3181G>A p.Asp1061Asn Missense 18/19 - 1
3-148894062-GG-TG c.3156delinsA p.Thr1052Thr Missense 18/19 - 1
3-148894062-G-A c.3156C>T p.Thr1052Thr Synonymous 18/19 - 1
3-148894063-G-A c.3155C>T p.Thr1052Ile Missense 18/19 - 1
3-148894076-C-T c.3142G>A p.Ala1048Thr Missense 18/19 - 1
3-148894078-T-C c.3140A>G p.His1047Arg Missense 18/19 - 1
3-148894090-GG-G c.3129del p.Asp1044Thrfs*24 Frameshift 18/19 - 1
3-148894099-CA-AC c.3118_3119delinsGT p.Cys1040Val Missense 18/19 - 1
3-148894159-GG-AA c.3058_3059delinsTT p.Pro1020Phe Missense 18/19 - 1
3-148895051-C-T c.3018+576G>A - IntronicSNV - 17/18 1
3-148895126-A-G c.3018+501T>C - IntronicSNV - 17/18 1
3-148895531-G-C c.3018+96C>G - IntronicSNV - 17/18 1
3-148895654-A-G c.2991T>C p.His997His Synonymous 17/19 - 2
3-148895654-A-C c.2991T>G p.His997Gln Missense 17/19 - 1
3-148895670-T-C c.2975A>G p.Asp992Gly Missense 17/19 - 1
3-148895673-A-G c.2972T>C p.Ile991Thr Missense 17/19 - 2
3-148895683-C-T c.2962G>A p.Gly988Ser Missense 17/19 - 1
3-148895692-T-C c.2953A>G p.Met985Val Missense 17/19 - 1
3-148895700-C-T c.2945G>A p.Trp982* Nonsense 17/19 - 1
3-148895710-C-T c.2935G>A p.Glu979Lys Missense 17/19 - 1
3-148895717-C-A c.2928G>T p.Val976Val Synonymous 17/19 - 1
3-148895765-A-T c.2880T>A p.Ala960Ala Synonymous 17/19 - 1
3-148895765-A-G c.2880T>C p.Ala960Ala Synonymous 17/19 - 1
3-148895765-A-C c.2880T>G p.Ala960Ala Synonymous 17/19 - 1
3-148895767-C-A c.2879-1G>T - IntronicSNV - 16/18 1
3-148896220-C-CA c.2859_2860insT p.Glu954* Nonsense 16/19 - 1
3-148896243-TT-GT c.2837delinsC p.Asn946Thr Missense 16/19 - 1
3-148896255-G-GACA c.2824_2825insTGT p.Pro942delinsLeuSer MultiAAMissense 16/19 - 1
3-148896256-G-C c.2824C>G p.Pro942Ala Missense 16/19 - 1
3-148896287-T-C c.2793A>G p.Leu931Leu Synonymous 16/19 - 1
3-148896321-AA-CA c.2759delinsG p.Phe920Cys Missense 16/19 - 1
3-148896324-A-G c.2756T>C p.Leu919Pro Missense 16/19 - 1
3-148896348-C-T c.2732G>A p.Arg911Lys Missense 16/19 - 1
3-148896374-TCT-TGG c.2704_2705delinsCC p.Arg902Pro Missense 16/19 - 1
3-148896386-A-C c.2694T>G p.Ile898Met Missense 16/19 - 1
3-148896396-C-G c.2684G>C p.Gly895Ala Missense 16/19 - 1
3-148896411-T-C c.2669A>G p.Tyr890Cys Missense 16/19 - 1
3-148896430-A-G c.2662-12T>C - IntronicSNV - 15/18 4
3-148897360-T-C c.2644A>G p.Thr882Ala Missense 15/19 - 2
3-148897402-CC-C c.2603del p.Gly868Glufs*26 Frameshift 15/19 - 1
3-148897406-T-C c.2598A>G p.Gly866Gly Synonymous 15/19 - 1
3-148897433-G-A c.2571C>T p.Tyr857Tyr Synonymous 15/19 - 1
3-148897443-GT-GG c.2560delinsC p.Thr854Pro Missense 15/19 - 1
3-148898086-A-G c.2555-637T>C - IntronicSNV - 14/18 1
3-148899775-C-T c.2554+17G>A - IntronicSNV - 14/18 1
3-148899775-C-G c.2554+17G>C - IntronicSNV - 14/18 1
3-148899791-C-A c.2554+1G>T - IntronicSNV - 14/18 1
3-148899821-T-C c.2525A>G p.Glu842Gly Missense 14/19 - 1
3-148899824-G-A c.2522C>T p.Thr841Ile Missense 14/19 - 1
3-148899824-G-C c.2522C>G p.Thr841Arg Missense 14/19 - 2
3-148899826-TTTGT-T c.2520_2523del p.Thr841Argfs*52 Frameshift 14/19 - 1
3-148899846-ATTGA-A c.2498_2501del p.Ser833Tyrfs*60 Frameshift 14/19 - 1
3-148899848-GA-AT c.2497_2498delinsAT p.Ser833Ile Missense 14/19 - 1
3-148899865-CA-GC c.2480_2481delinsGC p.Met827Ser Missense 14/19 - 1
3-148899881-A-G c.2465T>C p.Ile822Thr Missense 14/19 - 1
3-148899900-C-G c.2446G>C p.Val816Leu Missense 14/19 - 1
3-148900046-C-T c.2426-126G>A - IntronicSNV - 13/18 1
3-148900599-G-A c.2425+654C>T - IntronicSNV - 13/18 1
3-148900994-C-A c.2425+259G>T - IntronicSNV - 13/18 1
3-148901254-CTA-C c.2423_2424del p.Leu808Argfs*17 SpliceDonorDeletion 13/19 - 1
3-148901257-A-C c.2421T>G p.Ile807Met Missense 13/19 - 1
3-148901300-C-T c.2378G>A p.Arg793His Missense 13/19 - 1
3-148901351-C-A c.2327G>T p.Gly776Val Missense 13/19 - 1
3-148901407-C-T c.2286-15G>A - IntronicSNV - 12/18 1
3-148901407-C-A c.2286-15G>T - IntronicSNV - 12/18 1
3-148902300-C-T c.2285+726G>A - IntronicSNV - 12/18 1
3-148902714-T-C c.2285+312A>G - IntronicSNV - 12/18 1
3-148903055-TTT-T c.2257_2258del p.Lys753Glyfs*17 Frameshift 12/19 - 1
3-148903143-T-C c.2168A>G p.Glu723Gly Missense 12/19 - 1
3-148903197-T-A c.2114A>T p.Tyr705Phe Missense 12/19 - 1
3-148903203-TC-AG c.2107_2108delinsCT p.Asp703Leu Missense 12/19 - 1
3-148903215-CA-GC c.2095_2096delinsGC p.Cys699Ala Missense 12/19 - 1
3-148903496-G-A c.2078-263C>T - IntronicSNV - 11/18 1
3-148903923-G-A c.2077+384C>T - IntronicSNV - 11/18 1
3-148904333-CGT-C c.2050_2051del p.Thr684Alafs*6 Frameshift 11/19 - 1
3-148904345-T-C c.2039A>G p.Gln680Arg Missense 11/19 - 1
3-148904345-TG-AT c.2038_2039delinsAT p.Gln680Ile Missense 11/19 - 1
3-148904363-G-A c.2021C>T p.Thr674Ile Missense 11/19 - 2
3-148904390-T-A c.1994A>T p.Tyr665Phe Missense 11/19 - 1
3-148904395-G-A c.1989C>T p.Asn663Asn Synonymous 11/19 - 1
3-148904430-C-T c.1954G>A p.Glu652Lys Missense 11/19 - 1
3-148904434-T-G c.1950A>C p.Gly650Gly Synonymous 11/19 - 2
3-148904448-A-AA c.1937dup p.Leu646Phefs*7 Frameshift 11/19 - 1
3-148904465-TC-TG c.1918delinsC p.Asp640His Missense 11/19 - 1
3-148904485-A-G c.1899T>C p.Gly633Gly Synonymous 11/19 - 1
3-148904495-TT-GG c.1888_1889delinsCC p.Asn630Pro Missense 11/19 - 1
3-148904506-G-C c.1878C>G p.Phe626Leu Missense 11/19 - 1
3-148904506-G-T c.1878C>A p.Phe626Leu Missense 11/19 - 1
3-148904508-A-G c.1876T>C p.Phe626Leu Missense 11/19 - 1
3-148904513-TT-GC c.1870_1871delinsGC p.Asn624Ala Missense 11/19 - 1
3-148905007-T-A c.1865-488A>T - IntronicSNV - 10/18 3
3-148905726-G-A c.1864+113C>T - IntronicSNV - 10/18 1
3-148905748-G-C c.1864+91C>G - IntronicSNV - 10/18 1
3-148905777-A-G c.1864+62T>C - IntronicSNV - 10/18 1
3-148905834-C-T c.1864+5G>A - IntronicSNV - 10/18 1
3-148905907-A-C c.1796T>G p.Met599Arg Missense 10/19 - 1
3-148905918-TATCTT-T c.1783_1787del p.Asp595Tyrfs*2 Frameshift 10/19 - 1
3-148905924-CCA-C c.1778_1779del p.Leu593Argfs*3 Frameshift 10/19 - 1
3-148905950-A-T c.1753T>A p.Phe585Ile Missense 10/19 - 2
3-148905952-A-G c.1751T>C p.Val584Ala Missense 10/19 - 1
3-148905952-A-C c.1751T>G p.Val584Gly Missense 10/19 - 1
3-148905966-AATA-A c.1736_1738del p.Tyr579del InFrameDeletion 10/19 - 1
3-148906027-A-G c.1714-38T>C - IntronicSNV - 9/18 2
3-148911947-G-C c.1713+4207C>G - IntronicSNV - 9/18 3
3-148912996-G-A c.1713+3158C>T - IntronicSNV - 9/18 2
3-148913126-G-T c.1713+3028C>A - IntronicSNV - 9/18 6
3-148915628-T-C c.1713+526A>G - IntronicSNV - 9/18 3
3-148916154-CC-C c.1713+1del - IntronicDeletion 9/19 - 1
3-148916157-TCT-TGG c.1708_1709delinsCC p.Arg570Pro Missense 9/19 - 2
3-148916158-CT-CA c.1708delinsT p.Arg570* Missense 9/19 - 1
3-148916181-TT-GC c.1685_1686delinsGC p.Lys562Ser Missense 9/19 - 1
3-148916182-T-C c.1685A>G p.Lys562Arg Missense 9/19 - 8
3-148916188-C-A c.1679G>T p.Cys560Phe Missense 9/19 - 1
3-148916191-AT-CC c.1675_1676delinsGG p.Ile559Gly Missense 9/19 - 2
3-148916203-C-T c.1664G>A p.Gly555Glu Missense 9/19 - 1
3-148916204-C-A c.1663G>T p.Gly555Trp Missense 9/19 - 1
3-148916215-G-A c.1652C>T p.Thr551Ile Missense 9/19 - 3
3-148916215-GT-GG c.1651delinsC p.Thr551Pro Missense 9/19 - 1
3-148916227-T-G c.1640A>C p.Lys547Thr Missense 9/19 - 1
3-148916235-T-A c.1632A>T p.Glu544Asp Missense 9/19 - 8
3-148916265-A-C c.1602T>G p.Cys534Trp Missense 9/19 - 1
3-148916279-C-T c.1588G>A p.Ala530Thr Missense 9/19 - 1
3-148916309-GTCCATTCATAGGTGAATGTTTCTGTGGGTGCC-G c.1527_1558del p.Ala510Cysfs*9 Frameshift 9/19 - 1
3-148916338-G-T c.1529C>A p.Ala510Glu Missense 9/19 - 1
3-148916344-ATGG-A c.1521_1523del p.His508del InFrameDeletion 9/19 - 2
3-148916357-G-A c.1510C>T p.Pro504Ser Missense 9/19 - 1
3-148917500-T-C c.1500A>G p.Arg500Arg Synonymous 8/19 - 1
3-148917502-T-C c.1498A>G p.Arg500Gly Missense 8/19 - 1
3-148917512-GG-G c.1492del p.Gln498Argfs*28 Frameshift 8/19 - 1
3-148917565-C-T c.1435G>A p.Gly479Arg Missense 8/19 - 1
3-148917570-G-A c.1430C>T p.Pro477Leu Missense 8/19 - 2
3-148917590-TGC-TGT c.1408delinsA p.Ala470Thr Missense 8/19 - 1
3-148917600-TT-TG c.1399delinsC p.Asn467His Missense 8/19 - 1
3-148917609-GT-GA c.1390delinsT p.Thr464Ser Missense 8/19 - 1
3-148917613-C-T c.1387G>A p.Val463Ile Missense 8/19 - 1
3-148917636-G-T c.1364C>A p.Ala455Glu Missense 8/19 - 1
3-148919880-A-G c.1348+9T>C - IntronicSNV - 7/18 1
3-148919897-C-A c.1340G>T p.Gly447Val Missense 7/19 - 1
3-148919945-G-A c.1292C>T p.Ala431Val Missense 7/19 - 1
3-148919957-T-C c.1280A>G p.Glu427Gly Missense 7/19 - 1
3-148919962-A-G c.1275T>C p.Tyr425Tyr Synonymous 7/19 - 1
3-148919984-C-G c.1253G>C p.Gly418Ala Missense 7/19 - 1
3-148919995-T-TATTC c.1241_1242insGAAT p.Arg415Asnfs*8 Frameshift 7/19 - 1
3-148919995-TGT-GAC c.1240_1242delinsGTC p.Thr414Val Missense 7/19 - 1
3-148920002-C-G c.1235G>C p.Gly412Ala Missense 7/19 - 1
3-148920022-CTGA-C c.1213_1215del p.Ser405del InFrameDeletion 7/19 - 1
3-148920026-T-TT c.1211dup p.Asp404Glufs*7 SpliceAcceptorInsertion 7/19 - 1
3-148923656-G-A c.1208+299C>T - IntronicSNV - 6/18 1
3-148923957-TC-AC c.1206delinsT p.Gly402Gly Missense 6/19 - 1
3-148923961-G-T c.1202C>A p.Pro401His Missense 6/19 - 1
3-148923966-TGT-GAC c.1195_1197delinsGTC p.Thr399Val Missense 6/19 - 1
3-148923967-G-T c.1196C>A p.Thr399Lys Missense 6/19 - 1
3-148923968-T-C c.1195A>G p.Thr399Ala Missense 6/19 - 1
3-148923973-T-C c.1190A>G p.Asn397Ser Missense 6/19 - 1
3-148923984-G-T c.1179C>A p.Phe393Leu Missense 6/19 - 1
3-148923992-C-T c.1171G>A p.Asp391Asn Missense 6/19 - 1
3-148923995-T-C c.1168A>G p.Ile390Val Missense 6/19 - 1
3-148924002-G-A c.1161C>T p.Pro387Pro Synonymous 6/19 - 1
3-148924012-TT-GC c.1150_1151delinsGC p.Asn384Ala Missense 6/19 - 1
3-148924013-TT-T c.1151del p.Asn384Thrfs*7 Frameshift 6/19 - 1
3-148924030-G-A c.1133C>T p.Ala378Val Missense 6/19 - 1
3-148924030-G-C c.1133C>G p.Ala378Gly Missense 6/19 - 1
3-148924050-A-T c.1113T>A p.Val371Val Synonymous 6/19 - 1
3-148924050-A-C c.1113T>G p.Val371Val Synonymous 6/19 - 1
3-148924050-A-G c.1113T>C p.Val371Val Synonymous 6/19 - 1
3-148924056-C-G c.1107G>C p.Lys369Asn Missense 6/19 - 1
3-148924056-C-A c.1107G>T p.Lys369Asn Missense 6/19 - 1
3-148924057-TT-GC c.1105_1106delinsGC p.Lys369Ala Missense 6/19 - 1
3-148924064-G-A c.1099C>T p.Arg367Cys Missense 6/19 - 1
3-148924071-ATC-TAA c.1090_1092delinsTTA p.Asp364Leu Nonsense 6/19 - 1
3-148924073-C-A c.1090G>T p.Asp364Tyr Missense 6/19 - 1
3-148924079-A-C c.1084T>G p.Ser362Ala Missense 6/19 - 1
3-148924082-A-C c.1081T>G p.Ser361Ala Missense 6/19 - 1
3-148924089-G-A c.1074C>T p.Asn358Asn Synonymous 6/19 - 1
3-148924091-T-C c.1072A>G p.Asn358Asp Missense 6/19 - 1
3-148924094-A-C c.1069T>G p.Cys357Gly Missense 6/19 - 1
3-148924111-A-G c.1052T>C p.Phe351Ser Missense 6/19 - 1
3-148924115-C-T c.1048G>A p.Ala350Thr Missense 6/19 - 1
3-148924177-T-C c.1037-51A>G - IntronicSNV - 5/18 1
3-148925163-TAG-GAC c.1021_1023delinsGTC p.Leu341Val Missense 5/19 - 1
3-148925165-G-C c.1021C>G p.Leu341Val Missense 5/19 - 1
3-148925173-C-G c.1013G>C p.Cys338Ser Missense 5/19 - 3
3-148925174-A-T c.1012T>A p.Cys338Ser Missense 5/19 - 3
3-148925185-C-T c.1001G>A p.Trp334* Nonsense 5/19 - 1
3-148925189-C-G c.997G>C p.Glu333Gln Missense 5/19 - 1
3-148925191-C-A c.995G>T p.Gly332Val Missense 5/19 - 1
3-148925191-C-G c.995G>C p.Gly332Ala Missense 5/19 - 1
3-148925192-C-T c.994G>A p.Gly332Arg Missense 5/19 - 1
3-148925218-T-G c.968A>C p.Asp323Ala Missense 5/19 - 1
3-148925219-C-T c.967G>A p.Asp323Asn Missense 5/19 - 1
3-148925224-A-G c.962T>C p.Leu321Pro Missense 5/19 - 1
3-148925235-A-G c.951T>C p.Phe317Phe Synonymous 5/19 - 1
3-148925236-A-C c.950T>G p.Phe317Cys Missense 5/19 - 4
3-148925235-A-T c.951T>A p.Phe317Leu Missense 5/19 - 62
3-148925235-A-C c.951T>G p.Phe317Leu Missense 5/19 - 62
3-148925237-A-G c.949T>C p.Phe317Leu Missense 5/19 - 62
3-148925237-A-T c.949T>A p.Phe317Ile Missense 5/19 - 4
3-148925237-A-C c.949T>G p.Phe317Val Missense 5/19 - 7
3-148925251-T-C c.935A>G p.Asp312Gly Missense 5/19 - 1
3-148925251-T-G c.935A>C p.Asp312Ala Missense 5/19 - 1
3-148925252-C-G c.934G>C p.Asp312His Missense 5/19 - 2
3-148925252-C-T c.934G>A p.Asp312Asn Missense 5/19 - 3
3-148925257-CG-GC c.928_929delinsGC p.Arg310Ala Missense 5/19 - 1
3-148925263-T-G c.923A>C p.Asn308Thr Missense 5/19 - 1
3-148925264-T-C c.922A>G p.Asn308Asp Missense 5/19 - 1
3-148925267-T-A c.919A>T p.Lys307* Nonsense 5/19 - 1
3-148925267-T-C c.919A>G p.Lys307Glu Missense 5/19 - 1
3-148925274-CAG-TTT c.910_912delinsAAA p.Leu304Lys Missense 5/19 - 1
3-148925278-G-A c.908C>T p.Ala303Val Missense 5/19 - 1
3-148925284-C-T c.902G>A p.Gly301Glu Missense 5/19 - 1
3-148925288-G-A c.898C>T p.His300Tyr Missense 5/19 - 1
3-148925292-GA-GG c.893delinsC p.Phe298Ser Missense 5/19 - 1
3-148925302-T-C c.884A>G p.His295Arg Missense 5/19 - 6
3-148925302-T-G c.884A>C p.His295Pro Missense 5/19 - 1
3-148925308-T-G c.878A>C p.Asp293Ala Missense 5/19 - 1
3-148925312-C-T c.874G>A p.Val292Ile Missense 5/19 - 1
3-148925314-T-G c.872A>C p.Glu291Ala Missense 5/19 - 1
3-148925318-T-TT c.869dup p.Asn290Lysfs*2 Frameshift 5/19 - 1
3-148925320-CC-CA c.865delinsT p.Gly289Cys Missense 5/19 - 1
3-148925320-C-G c.866G>C p.Gly289Ala Missense 5/19 - 1
3-148925325-TA-T c.861del p.Met288Trpfs*17 Frameshift 5/19 - 1
3-148925329-A-G c.857T>C p.Phe286Ser Missense 5/19 - 1
3-148925341-TT-GG c.844_845delinsCC p.Lys282Pro Missense 5/19 - 1
3-148925345-C-A c.841G>T p.Val281Leu Missense 5/19 - 1
3-148925350-T-C c.836A>G p.Asp279Gly Missense 5/19 - 2
3-148925351-C-T c.835G>A p.Asp279Asn Missense 5/19 - 1
3-148925364-GGA-GAG c.820_821delinsCT p.Ser274Leu Missense 5/19 - 1
3-148925367-GAG-ATG c.818_819delinsAT p.Leu273His Missense 5/19 - 2
3-148925369-G-A c.817C>T p.Leu273Phe Missense 5/19 - 1
3-148925377-A-G c.809T>C p.Leu270Pro Missense 5/19 - 1
3-148925379-ACT-TGG c.805_807delinsCCA p.Ser269Pro Missense 5/19 - 1
3-148925381-T-A c.805A>T p.Ser269Cys Missense 5/19 - 1
3-148925390-T-C c.796A>G p.Thr266Ala Missense 5/19 - 1
3-148925398-T-C c.788A>G p.Asn263Ser Missense 5/19 - 1
3-148925401-A-C c.785T>G p.Val262Gly Missense 5/19 - 1
3-148925418-G-A c.782-14C>T - IntronicSNV - 4/18 2
3-148926999-A-G c.780T>C p.Tyr260Tyr Synonymous 4/19 - 1
3-148927001-TA-T c.778del p.Tyr260Ilefs*3 Frameshift 4/19 - 1
3-148927013-T-A c.766A>T p.Ser256Cys Missense 4/19 - 1
3-148927014-C-G c.765G>C p.Glu255Asp Missense 4/19 - 1
3-148927014-C-A c.765G>T p.Glu255Asp Missense 4/19 - 1
3-148927015-T-A c.764A>T p.Glu255Val Missense 4/19 - 36
3-148927016-C-T c.763G>A p.Glu255Lys Missense 4/19 - 64
3-148927018-CTGGAAGTCTTCGTTGTCTTTGTCA-C c.738_761del p.Asp247_Gln254del InFrameDeletion 4/19 - 2
3-148927019-G-A c.760C>T p.Gln254* Nonsense 4/19 - 3
3-148927021-AA-GC c.757_758delinsGC p.Phe253Ala Missense 4/19 - 1
3-148927022-A-G c.757T>C p.Phe253Leu Missense 4/19 - 1
3-148927024-T-G c.755A>C p.Asp252Ala Missense 4/19 - 1
3-148927024-TC-CG c.754_755delinsCG p.Asp252Arg Missense 4/19 - 1
3-148927029-GT-GG c.749delinsC p.Asn250Thr Missense 4/19 - 2
3-148927042-A-G c.737T>C p.Val246Ala Missense 4/19 - 1
3-148927046-T-G c.733A>C p.Lys245Gln Missense 4/19 - 1
3-148927049-C-T c.730G>A p.Glu244Lys Missense 4/19 - 2
3-148927056-TGA-AAC c.721_723delinsGTT p.Ser241Val Missense 4/19 - 1
3-148927058-A-G c.721T>C p.Ser241Pro Missense 4/19 - 1
3-148927068-TTT-TGT c.710delinsC p.Lys237Thr Missense 4/19 - 1
3-148927069-TT-GC c.709_710delinsGC p.Lys237Ala Missense 4/19 - 1
3-148927081-T-C c.698A>G p.Glu233Gly Missense 4/19 - 1
3-148927081-T-G c.698A>C p.Glu233Ala Missense 4/19 - 1
3-148927084-A-G c.695T>C p.Leu232Pro Missense 4/19 - 1
3-148927086-GGTA-G c.691_693del p.Tyr231del InFrameDeletion 4/19 - 1
3-148927093-C-T c.686G>A p.Ser229Asn Missense 4/19 - 1
3-148927100-T-C c.679A>G p.Asn227Asp Missense 4/19 - 1
3-148927105-T-G c.674A>C p.Asp225Ala Missense 4/19 - 1
3-148927110-C-G c.669G>C p.Val223Val Synonymous 4/19 - 1
3-148927125-CAC-TTT c.652_654delinsAAA p.Val218Lys Missense 4/19 - 1
3-148927126-A-G c.653T>C p.Val218Ala Missense 4/19 - 1
3-148927129-AA-GC c.649_650delinsGC p.Phe217Ala Missense 4/19 - 1
3-148927134-TCG-TGG c.644delinsC p.Arg215Pro Missense 4/19 - 1
3-148927135-CG-GC c.643_644delinsGC p.Arg215Ala Missense 4/19 - 2
3-148927136-G-A c.643C>T p.Arg215* Nonsense 4/19 - 1
3-148927138-T-G c.641A>C p.Asp214Ala Missense 4/19 - 1
3-148927141-A-G c.638T>C p.Ile213Thr Missense 4/19 - 1
3-148927144-TG-TT c.634delinsA p.His212Asn Missense 4/19 - 1
3-148927145-G-T c.634C>A p.His212Asn Missense 4/19 - 1
3-148927148-T-C c.631A>G p.Lys211Glu Missense 4/19 - 2
3-148927152-T-C c.627A>G p.Lys209Lys Synonymous 4/19 - 1
3-148927157-C-T c.622G>A p.Glu208Lys Missense 4/19 - 2
3-148927164-TAG-TAT c.613delinsA p.Leu205Ile Missense 4/19 - 1
3-148927165-AG-GC c.613_614delinsGC p.Leu205Ala Missense 4/19 - 2
3-148927711-A-T c.607+243T>A - IntronicSNV - 3/18 2
3-148927962-CA-GC c.598_599delinsGC p.Cys200Ala Missense 3/19 - 1
3-148927962-C-T c.599G>A p.Cys200Tyr Missense 3/19 - 1
3-148927962-CA-AC c.598_599delinsGT p.Cys200Val Missense 3/19 - 1
3-148927969-T-G c.592A>C p.Ile198Leu Missense 3/19 - 1
3-148927977-C-T c.584G>A p.Gly195Glu Missense 3/19 - 1
3-148927985-TCC-TGG c.574_575delinsCC p.Gly192Pro Missense 3/19 - 1
3-148927988-TG-GT c.572_573delinsAC p.Ser191Tyr Missense 3/19 - 1
3-148927993-C-T c.568G>A p.Ala190Thr Missense 3/19 - 1
3-148927995-AT-GC c.565_566delinsGC p.Ile189Ala Missense 3/19 - 1
3-148927999-C-A c.562G>T p.Asp188Tyr Missense 3/19 - 1
3-148928005-G-C c.556C>G p.Pro186Ala Missense 3/19 - 1
3-148928007-G-C c.554C>G p.Ala185Gly Missense 3/19 - 1
3-148928023-G-T c.538C>A p.His180Asn Missense 3/19 - 1
3-148928023-G-A c.538C>T p.His180Tyr Missense 3/19 - 1
3-148928025-GTAAATCCTAGTCACA-G c.522_536del p.Val175_Tyr179del InFrameDeletion 3/19 - 1
3-148928031-CT-GC c.529_530delinsGC p.Arg177Ala Missense 3/19 - 1
3-148928037-A-G c.524T>C p.Val175Ala Missense 3/19 - 1
3-148928038-C-G c.523G>C p.Val175Leu Missense 3/19 - 1
3-148928045-G-T c.516C>A p.Gly172Gly Synonymous 3/19 - 1
3-148928045-TG-T c.516del p.Asn173Ilefs*3 Frameshift 3/19 - 1
3-148928051-TCC-AGC c.509_510delinsCT p.Gly170Ala Missense 3/19 - 1
3-148928060-AGG-AAG c.500delinsT p.Pro167Leu Missense 3/19 - 1
3-148928064-CT-CC c.496delinsG p.Ser166Gly Missense 3/19 - 1
3-148928064-CT-GC c.496_497delinsGC p.Ser166Ala Missense 3/19 - 1
3-148928068-G-C c.493C>G p.Gln165Glu Missense 3/19 - 1
3-148928072-T-A c.489A>T p.Glu163Asp Missense 3/19 - 1
3-148928072-T-G c.489A>C p.Glu163Asp Missense 3/19 - 1
3-148928076-G-C c.485C>G p.Thr162Ser Missense 3/19 - 1
3-148928077-T-A c.484A>T p.Thr162Ser Missense 3/19 - 1
3-148928082-AG-TG c.479delinsA p.Leu160His Missense 3/19 - 1
3-148928088-A-C c.473T>G p.Met158Arg Missense 3/19 - 1
3-148928091-TA-GC c.469_470delinsGC p.Tyr157Ala Missense 3/19 - 1
3-148928104-C-T c.457G>A p.Glu153Lys Missense 3/19 - 1
3-148928106-C-G c.455G>C p.Gly152Ala Missense 3/19 - 1
3-148928110-G-C c.451C>G p.Pro151Ala Missense 3/19 - 2
3-148928112-TA-GC c.448_449delinsGC p.Tyr150Ala Missense 3/19 - 1
3-148928115-A-G c.446T>C p.Val149Ala Missense 3/19 - 1
3-148928120-G-T c.441C>A p.Asp147Glu Missense 3/19 - 1
3-148928120-G-C c.441C>G p.Asp147Glu Missense 3/19 - 1
3-148928120-GTC-AAG c.439_441delinsCTT p.Asp147Leu Missense 3/19 - 1
3-148928121-T-G c.440A>C p.Asp147Ala Missense 3/19 - 2
3-148928125-C-G c.436G>C p.Asp146His Missense 3/19 - 1
3-148928125-C-T c.436G>A p.Asp146Asn Missense 3/19 - 1
3-148928128-C-A c.433G>T p.Ala145Ser Missense 3/19 - 1
3-148928135-AAA-GAG c.424_426delinsCTC p.Phe142Leu Missense 3/19 - 1
3-148928136-AA-CA c.425delinsG p.Phe142Cys Missense 3/19 - 1
3-148928140-C-T c.421G>A p.Asp141Asn Missense 3/19 - 4
3-148928148-TT-GC c.412_413delinsGC p.Asn138Ala Missense 3/19 - 1
3-148928151-T-G c.410A>C p.Asp137Ala Missense 3/19 - 1
3-148928163-GC-AA c.397_398delinsTT p.Ala133Phe Missense 3/19 - 1
3-148930218-G-A c.394+20C>T - IntronicSNV - 2/18 1
3-148930238-C-A c.394G>T p.Gly132Trp Missense 2/19 - 1
3-148930239-CTC-TGT c.391_393delinsACA p.Glu131Thr Missense 2/19 - 1
3-148930240-T-G c.392A>C p.Glu131Ala Missense 2/19 - 1
3-148930243-T-G c.389A>C p.His130Pro Missense 2/19 - 1
3-148930243-TG-GC c.388_389delinsGC p.His130Ala Missense 2/19 - 1
3-148930244-G-A c.388C>T p.His130Tyr Missense 2/19 - 1
3-148930251-A-C c.381T>G p.Tyr127* Nonsense 2/19 - 1
3-148930251-A-T c.381T>A p.Tyr127* Nonsense 2/19 - 1
3-148930258-GT-TG c.373_374delinsCA p.Thr125His Missense 2/19 - 1
3-148930264-C-G c.368G>C p.Gly123Ala Missense 2/19 - 2
3-148930267-TG-GC c.364_365delinsGC p.His122Ala Missense 2/19 - 1
3-148930269-TG-GT c.362_363delinsAC p.Ser121Tyr Missense 2/19 - 1
3-148930270-G-A c.362C>T p.Ser121Leu Missense 2/19 - 1
3-148930272-ATG-TAA c.358_360delinsTTA p.His120Leu Nonsense 2/19 - 1
3-148930273-T-C c.359A>G p.His120Arg Missense 2/19 - 1
3-148930273-TG-GG c.359delinsC p.His120Pro Missense 2/19 - 1
3-148930273-TG-GC c.358_359delinsGC p.His120Ala Missense 2/19 - 1
3-148930274-G-C c.358C>G p.His120Asp Missense 2/19 - 1
3-148930274-G-T c.358C>A p.His120Asn Missense 2/19 - 1
3-148930278-GGT-GAG c.352_353delinsCT p.Thr118Leu Missense 2/19 - 1
3-148930279-GT-TG c.352_353delinsCA p.Thr118His Missense 2/19 - 2
3-148930279-G-C c.353C>G p.Thr118Ser Missense 2/19 - 1
3-148930280-T-A c.352A>T p.Thr118Ser Missense 2/19 - 1
3-148930280-T-C c.352A>G p.Thr118Ala Missense 2/19 - 1
3-148930281-G-T c.351C>A p.Tyr117* Nonsense 2/19 - 1
3-148930281-G-C c.351C>G p.Tyr117* Nonsense 2/19 - 1
3-148930288-CT-TA c.343_344delinsTA p.Arg115* Nonsense 2/19 - 1
3-148930288-C-T c.344G>A p.Arg115Lys Missense 2/19 - 1
3-148930289-T-A c.343A>T p.Arg115Trp Missense 2/19 - 1
3-148930294-GC-TG c.337_338delinsCA p.Ala113His Missense 2/19 - 1
3-148930297-AG-TG c.335delinsA p.Leu112His Missense 2/19 - 1
3-148930298-G-A c.334C>T p.Leu112Phe Missense 2/19 - 2
3-148930300-TT-TG c.331delinsC p.Asn111His Missense 2/19 - 1
3-148930305-T-A c.327A>T p.Leu109Phe Missense 2/19 - 1
3-148930305-TAA-CAT c.325_327delinsATG p.Leu109Met Missense 2/19 - 1
3-148930309-TG-GC c.322_323delinsGC p.His108Ala Missense 2/19 - 2
3-148930311-TA-AC c.320_321delinsGT p.Val107Gly Missense 2/19 - 1
3-148930311-TAC-TTT c.319_320delinsAA p.Val107Lys Missense 2/19 - 1
3-148930311-TAC-TGG c.319_320delinsCC p.Val107Pro Missense 2/19 - 1
3-148930313-C-T c.319G>A p.Val107Ile Missense 2/19 - 2
3-148930318-A-G c.314T>C p.Val105Ala Missense 2/19 - 1
3-148930318-AC-TG c.313_314delinsCA p.Val105His Missense 2/19 - 4
3-148930323-ATC-TAA c.307_309delinsTTA p.Asp103Leu Nonsense 2/19 - 1
3-148930324-AT-A c.308del p.Asp103Valfs*7 Frameshift 2/19 - 1
3-148930329-AG-TG c.303delinsA p.Thr101Thr Missense 2/19 - 1
3-148930330-G-A c.302C>T p.Thr101Ile Missense 2/19 - 1
3-148930334-C-G c.298G>C p.Glu100Gln Missense 2/19 - 1
3-148930335-A-T c.297T>A p.Ala99Ala Synonymous 2/19 - 1
3-148930335-A-G c.297T>C p.Ala99Ala Synonymous 2/19 - 1
3-148930335-A-C c.297T>G p.Ala99Ala Synonymous 2/19 - 1
3-148930336-G-T c.296C>A p.Ala99Asp Missense 2/19 - 1
3-148930336-GC-TG c.295_296delinsCA p.Ala99His Missense 2/19 - 1
3-148930340-T-A c.292A>T p.Lys98* Nonsense 2/19 - 1
3-148930343-T-C c.289A>G p.Ile97Val Missense 2/19 - 2
3-148930345-AT-TG c.286_287delinsCA p.Ile96His Missense 2/19 - 2
3-148930345-A-G c.287T>C p.Ile96Thr Missense 2/19 - 1
3-148930351-C-T c.281G>A p.Gly94Asp Missense 2/19 - 4
3-148930352-C-T c.280G>A p.Gly94Ser Missense 2/19 - 1
3-148930354-AA-GC c.277_278delinsGC p.Leu93Ala Missense 2/19 - 2
3-148930356-A-G c.276T>C p.Phe92Phe Synonymous 2/19 - 1
3-148930357-AA-GA c.275delinsC p.Phe92Ser Missense 2/19 - 1
3-148930363-AG-TG c.269delinsA p.Leu90His Missense 2/19 - 1
3-148930363-AG-GC c.268_269delinsGC p.Leu90Ala Missense 2/19 - 1
3-148930363-A-C c.269T>G p.Leu90Arg Missense 2/19 - 1
3-148930364-G-A c.268C>T p.Leu90Phe Missense 2/19 - 1
3-148930364-G-C c.268C>G p.Leu90Val Missense 2/19 - 1
3-148930369-A-T c.263T>A p.Val88Asp Missense 2/19 - 1
3-148930370-C-G c.262G>C p.Val88Leu Missense 2/19 - 1
3-148930372-GG-GT c.259delinsA p.Pro87Thr Missense 2/19 - 1
3-148930373-G-C c.259C>G p.Pro87Ala Missense 2/19 - 1
3-148930375-TT-GC c.256_257delinsGC p.Lys86Ala Missense 2/19 - 2
3-148930376-T-G c.256A>C p.Lys86Gln Missense 2/19 - 1
3-148930377-T-G c.255A>C p.Glu85Asp Missense 2/19 - 1
3-148930377-T-A c.255A>T p.Glu85Asp Missense 2/19 - 1
3-148930379-C-G c.253G>C p.Glu85Gln Missense 2/19 - 1
3-148930380-TA-GC c.251_252delinsGC p.Ile84Ser Missense 2/19 - 1
3-148930382-T-C c.250A>G p.Ile84Val Missense 2/19 - 4
3-148930383-A-G c.249T>C p.Thr83Thr Synonymous 2/19 - 2
3-148930384-AG-A c.248del p.Thr83Ilefs*2 Frameshift 2/19 - 1
3-148930386-T-C c.246A>G p.Thr82Thr Synonymous 2/19 - 1
3-148930389-CCT-TGT c.242_243delinsCA p.Arg81Thr Missense 2/19 - 2
3-148930390-C-G c.242G>C p.Arg81Thr Missense 2/19 - 1
3-148930390-CT-GC c.241_242delinsGC p.Arg81Ala Missense 2/19 - 4
3-148930393-AA-GC c.238_239delinsGC p.Phe80Ala Missense 2/19 - 3
3-148930396-G-A c.236C>T p.Thr79Ile Missense 2/19 - 1
3-148930398-TTC-TGT c.232_233delinsAC p.Glu78Thr Missense 2/19 - 1
3-148930399-T-G c.233A>C p.Glu78Ala Missense 2/19 - 2
3-148930400-C-T c.232G>A p.Glu78Lys Missense 2/19 - 1
3-148930401-A-T c.231T>A p.Asp77Glu Missense 2/19 - 1
3-148930401-A-C c.231T>G p.Asp77Glu Missense 2/19 - 1
3-148930401-ATC-AAG c.229_230delinsCT p.Asp77Leu Missense 2/19 - 2
3-148930402-T-G c.230A>C p.Asp77Ala Missense 2/19 - 2
3-148930402-TC-CG c.229_230delinsCG p.Asp77Arg Missense 2/19 - 2
3-148930402-T-A c.230A>T p.Asp77Val Missense 2/19 - 1
3-148930403-C-G c.229G>C p.Asp77His Missense 2/19 - 1
3-148930403-C-T c.229G>A p.Asp77Asn Missense 2/19 - 3
3-148930408-T-C c.224A>G p.Tyr75Cys Missense 2/19 - 1
3-148930417-TA-GG c.214_215delinsCC p.Tyr72Pro Missense 2/19 - 1
3-148930419-AAG-ATG c.212delinsA p.Leu71His Missense 2/19 - 1
3-148930421-G-C c.211C>G p.Leu71Val Missense 2/19 - 1
3-148930423-G-T c.209C>A p.Ala70Asp Missense 2/19 - 1
3-148930424-C-A c.208G>T p.Ala70Ser Missense 2/19 - 1
3-148930426-T-C c.206A>G p.Lys69Arg Missense 2/19 - 1
3-148930427-T-G c.205A>C p.Lys69Gln Missense 2/19 - 1
3-148930429-T-C c.203A>G p.Lys68Arg Missense 2/19 - 1
3-148930429-TT-GC c.202_203delinsGC p.Lys68Ala Missense 2/19 - 2
3-148930435-A-G c.197T>C p.Leu66Pro Missense 2/19 - 2
3-148930438-C-G c.194G>C p.Arg65Thr Missense 2/19 - 1
3-148930439-T-C c.193A>G p.Arg65Gly Missense 2/19 - 1
3-148930440-C-T c.192G>A p.Gly64Gly Synonymous 2/19 - 1
3-148930444-A-G c.188T>C p.Ile63Thr Missense 2/19 - 1
3-148930446-T-A c.186A>T p.Arg62Ser Missense 2/19 - 1
3-148930446-T-G c.186A>C p.Arg62Ser Missense 2/19 - 1
3-148930446-TCT-GAC c.184_186delinsGTC p.Arg62Val Missense 2/19 - 1
3-148930447-CT-GC c.184_185delinsGC p.Arg62Ala Missense 2/19 - 1
3-148930449-A-C c.183T>G p.Asp61Glu Missense 2/19 - 1
3-148930449-A-T c.183T>A p.Asp61Glu Missense 2/19 - 1
3-148930450-TC-CT c.181_182delinsAG p.Asp61Ser Missense 2/19 - 1
3-148930451-C-T c.181G>A p.Asp61Asn Missense 2/19 - 1
3-148930452-T-C c.180A>G p.Pro60Pro Synonymous 2/19 - 1
3-148930452-T-A c.180A>T p.Pro60Pro Synonymous 2/19 - 1
3-148930452-T-G c.180A>C p.Pro60Pro Synonymous 2/19 - 1
3-148930452-TG-AT c.179_180delinsAT p.Pro60His Missense 2/19 - 1
3-148930461-TTG-GAC c.169_171delinsGTC p.Gln57Val Missense 2/19 - 1
3-148930461-T-G c.171A>C p.Gln57His Missense 2/19 - 1
3-148930461-T-A c.171A>T p.Gln57His Missense 2/19 - 1
3-148930466-G-C c.166C>G p.Leu56Val Missense 2/19 - 1
3-148930467-AT-GG c.164_165delinsCC p.Tyr55Ser Missense 2/19 - 1
3-148930468-T-C c.164A>G p.Tyr55Cys Missense 2/19 - 1
3-148930470-G-A c.162C>T p.Ile54Ile Synonymous 2/19 - 1
3-148930470-G-C c.162C>G p.Ile54Met Missense 2/19 - 1
3-148930470-G-T c.162C>A p.Ile54Ile Synonymous 2/19 - 1
3-148930471-AT-GC c.160_161delinsGC p.Ile54Ala Missense 2/19 - 2
3-148930471-AT-GA c.160_161delinsTC p.Ile54Ser Missense 2/19 - 1
3-148930471-AT-TG c.160_161delinsCA p.Ile54His Missense 2/19 - 1
3-148930471-A-T c.161T>A p.Ile54Asn Missense 2/19 - 1
3-148930471-A-G c.161T>C p.Ile54Thr Missense 2/19 - 1
3-148930472-T-C c.160A>G p.Ile54Val Missense 2/19 - 1
3-148930472-T-G c.160A>C p.Ile54Leu Missense 2/19 - 2
3-148930473-A-C c.159T>G p.Asn53Lys Missense 2/19 - 1
3-148930473-A-T c.159T>A p.Asn53Lys Missense 2/19 - 1
3-148930476-G-A c.156C>T p.Ser52Ser Synonymous 2/19 - 1
3-148930476-G-T c.156C>A p.Ser52Ser Synonymous 2/19 - 1
3-148930476-G-C c.156C>G p.Ser52Ser Synonymous 2/19 - 1
3-148930478-A-C c.154T>G p.Ser52Ala Missense 2/19 - 2
3-148930478-A-G c.154T>C p.Ser52Pro Missense 2/19 - 2
3-148930479-A-G c.153T>C p.His51His Synonymous 2/19 - 2
3-148930480-TG-GC c.151_152delinsGC p.His51Ala Missense 2/19 - 8
3-148930481-G-A c.151C>T p.His51Tyr Missense 2/19 - 1
3-148930482-TTC-ATG c.148_150delinsCAT p.Glu50His Missense 2/19 - 1
3-148930482-T-A c.150A>T p.Glu50Asp Missense 2/19 - 2
3-148930482-T-G c.150A>C p.Glu50Asp Missense 2/19 - 2
3-148930483-T-G c.149A>C p.Glu50Ala Missense 2/19 - 3
3-148930483-TC-AG c.148_149delinsCT p.Glu50Leu Missense 2/19 - 2
3-148930484-C-G c.148G>C p.Glu50Gln Missense 2/19 - 3
3-148930484-C-T c.148G>A p.Glu50Lys Missense 2/19 - 1
3-148931524-G-A c.147-1039C>T - IntronicSNV - 1/18 2
3-148931524-G-T c.147-1039C>A - IntronicSNV - 1/18 2
3-148931980-G-A c.147-1495C>T - IntronicSNV - 1/18 1
3-148937890-G-A c.146+1544C>T - IntronicSNV - 1/18 1
3-148938346-T-C c.146+1088A>G - IntronicSNV - 1/18 1
3-148938950-A-G c.146+484T>C - IntronicSNV - 1/18 1
3-148939393-C-T c.146+41G>A - IntronicSNV - 1/18 1
3-148939435-T-G c.145A>C p.Thr49Pro Missense 1/19 - 1
3-148939438-C-A c.142G>T p.Asp48Tyr Missense 1/19 - 1
3-148939440-AC-TG c.139_140delinsCA p.Val47His Missense 1/19 - 1
3-148939440-A-C c.140T>G p.Val47Gly Missense 1/19 - 1
3-148939445-AAT-TGG c.133_135delinsCCA p.Ile45Pro Missense 1/19 - 1
3-148939445-AAT-TAA c.133_135delinsTTA p.Ile45Leu Nonsense 1/19 - 1
3-148939446-AT-TA c.133_134delinsTA p.Ile45Tyr Missense 1/19 - 1
3-148939446-AT-GC c.133_134delinsGC p.Ile45Ala Missense 1/19 - 1
3-148939446-AT-GG c.133_134delinsCC p.Ile45Pro Missense 1/19 - 1
3-148939447-T-A c.133A>T p.Ile45Phe Missense 1/19 - 1
3-148939447-T-G c.133A>C p.Ile45Leu Missense 1/19 - 1
3-148939447-T-C c.133A>G p.Ile45Val Missense 1/19 - 1
3-148939448-AAG-GAG c.132delinsC p.Leu44Leu Missense 1/19 - 1
3-148939450-G-A c.130C>T p.Leu44Phe Missense 1/19 - 1
3-148939452-T-C c.128A>G p.Lys43Arg Missense 1/19 - 4
3-148939455-T-C c.125A>G p.Lys42Arg Missense 1/19 - 1
3-148939455-TT-GC c.124_125delinsGC p.Lys42Ala Missense 1/19 - 1
3-148939456-T-G c.124A>C p.Lys42Gln Missense 1/19 - 1
3-148939459-C-A c.121G>T p.Glu41* Nonsense 1/19 - 1
3-148939459-C-T c.121G>A p.Glu41Lys Missense 1/19 - 4
3-148939461-CC-AT c.118_119delinsAT p.Gly40Met Missense 1/19 - 1
3-148939461-C-G c.119G>C p.Gly40Ala Missense 1/19 - 1
3-148939462-C-T c.118G>A p.Gly40Arg Missense 1/19 - 1
3-148939464-TG-AG c.116delinsT p.His39Leu Missense 1/19 - 1
3-148939464-TG-GC c.115_116delinsGC p.His39Ala Missense 1/19 - 3
3-148939464-T-C c.116A>G p.His39Arg Missense 1/19 - 1
3-148939467-TC-CG c.112_113delinsCG p.Asp38Arg Missense 1/19 - 1
3-148939467-T-G c.113A>C p.Asp38Ala Missense 1/19 - 2
3-148939469-AGA-GAG c.109_111delinsCTC p.Ser37Leu Missense 1/19 - 1
3-148939470-G-C c.110C>G p.Ser37Cys Missense 1/19 - 2
3-148939470-G-A c.110C>T p.Ser37Phe Missense 1/19 - 1
3-148939470-GA-CG c.109_110delinsCG p.Ser37Arg Missense 1/19 - 1
3-148939471-A-C c.109T>G p.Ser37Ala Missense 1/19 - 3
3-148939472-G-A c.108C>T p.Ala36Ala Synonymous 1/19 - 1
3-148939473-GC-TT c.106_107delinsAA p.Ala36Asn Missense 1/19 - 3
3-148939473-G-T c.107C>A p.Ala36Asp Missense 1/19 - 1
3-148939476-TA-GC c.103_104delinsGC p.Tyr35Ala Missense 1/19 - 2
3-148939479-TC-TG c.100delinsC p.Asp34His Missense 1/19 - 1
3-148939481-CC-TT c.98_99delinsAA p.Trp33* Missense 1/19 - 1
3-148939482-CA-GC c.97_98delinsGC p.Trp33Ala Missense 1/19 - 2
3-148939484-AGT-GAG c.94_96delinsCTC p.Thr32Leu Missense 1/19 - 1
3-148939484-A-T c.96T>A p.Thr32Thr Synonymous 1/19 - 1
3-148939484-A-C c.96T>G p.Thr32Thr Synonymous 1/19 - 1
3-148939484-A-G c.96T>C p.Thr32Thr Synonymous 1/19 - 1
3-148939485-GT-CA c.94_95delinsTG p.Thr32Cys Missense 1/19 - 2
3-148939485-GT-GG c.94delinsC p.Thr32Pro Missense 1/19 - 1
3-148939485-G-C c.95C>G p.Thr32Ser Missense 1/19 - 1
3-148939486-T-A c.94A>T p.Thr32Ser Missense 1/19 - 1
3-148939485-GT-TA c.94_95delinsTA p.Thr32Tyr Missense 1/19 - 1
3-148939486-T-C c.94A>G p.Thr32Ala Missense 1/19 - 1
3-148939487-CGT-TAT c.92_93delinsTA p.Thr31Ile Missense 1/19 - 1
3-148939488-GT-GG c.91delinsC p.Thr31Pro Missense 1/19 - 1
3-148939489-T-A c.91A>T p.Thr31Ser Missense 1/19 - 1
3-148939489-T-C c.91A>G p.Thr31Ala Missense 1/19 - 1
3-148939490-T-A c.90A>T p.Glu30Asp Missense 1/19 - 1
3-148939490-T-G c.90A>C p.Glu30Asp Missense 1/19 - 1
3-148939491-T-G c.89A>C p.Glu30Ala Missense 1/19 - 1
3-148939492-C-CGG c.87_88insCC p.Glu30Profs*56 Frameshift 1/19 - 1
3-148939497-AT-GC c.82_83delinsGC p.Ile28Ala Missense 1/19 - 1
3-148939498-T-C c.82A>G p.Ile28Val Missense 1/19 - 1
3-148939503-A-C c.77T>G p.Ile26Ser Missense 1/19 - 1
3-148939503-AT-CA c.76_77delinsTG p.Ile26Cys Missense 1/19 - 1
3-148939503-AT-GC c.76_77delinsGC p.Ile26Ala Missense 1/19 - 1
3-148939509-T-A c.71A>T p.Tyr24Phe Missense 1/19 - 2
3-148939509-TA-GC c.70_71delinsGC p.Tyr24Ala Missense 1/19 - 1
3-148939512-TG-GC c.67_68delinsGC p.His23Ala Missense 1/19 - 13
3-148939512-T-C c.68A>G p.His23Arg Missense 1/19 - 1
3-148939512-TG-AG c.68delinsT p.His23Leu Missense 1/19 - 1
3-148939513-G-T c.67C>A p.His23Asn Missense 1/19 - 1
3-148939514-CT-GC c.65_66delinsGC p.Lys22Ser Missense 1/19 - 1
3-148939515-TT-GT c.65delinsC p.Lys22Thr Missense 1/19 - 1
3-148939515-TT-GC c.64_65delinsGC p.Lys22Ala Missense 1/19 - 2
3-148939516-T-C c.64A>G p.Lys22Glu Missense 1/19 - 2
3-148939516-T-G c.64A>C p.Lys22Gln Missense 1/19 - 1
3-148939517-T-A c.63A>T p.Glu21Asp Missense 1/19 - 2
3-148939517-T-G c.63A>C p.Glu21Asp Missense 1/19 - 2
3-148939518-T-G c.62A>C p.Glu21Ala Missense 1/19 - 1
3-148939520-TTT-TGT c.59delinsC p.Lys20Thr Missense 1/19 - 2
3-148939521-TT-GT c.59delinsC p.Lys20Thr Missense 1/19 - 1
3-148939521-T-C c.59A>G p.Lys20Arg Missense 1/19 - 2
3-148939521-T-A c.59A>T p.Lys20Ile Missense 1/19 - 1
3-148939523-CGC-TTT c.55_57delinsAAA p.Ala19Lys Missense 1/19 - 3
3-148939523-CGC-CAT c.55_56delinsAT p.Ala19Met Missense 1/19 - 1
3-148939523-CGC-TGT c.55_57delinsACA p.Ala19Thr Missense 1/19 - 2
3-148939529-GG-AG c.51delinsT p.Ala17Ala Missense 1/19 - 1
3-148939529-G-A c.51C>T p.Ala17Ala Synonymous 1/19 - 1
3-148939529-G-C c.51C>G p.Ala17Ala Synonymous 1/19 - 1
3-148939529-G-T c.51C>A p.Ala17Ala Synonymous 1/19 - 1
3-148939530-G-T c.50C>A p.Ala17Asp Missense 1/19 - 2
3-148939531-C-G c.49G>C p.Ala17Pro Missense 1/19 - 1
3-148939532-TGG-TTT c.46_47delinsAA p.Pro16Lys Missense 1/19 - 1
3-148939532-TGG-ATG c.47_48delinsAT p.Pro16His Missense 1/19 - 1
3-148939532-T-C c.48A>G p.Pro16Pro Synonymous 1/19 - 1
3-148939532-T-A c.48A>T p.Pro16Pro Synonymous 1/19 - 1
3-148939532-T-G c.48A>C p.Pro16Pro Synonymous 1/19 - 1
3-148939533-GG-GA c.46delinsT p.Pro16Ser Missense 1/19 - 1
3-148939535-GGT-GAG c.43_44delinsCT p.Thr15Leu Missense 1/19 - 1
3-148939535-G-T c.45C>A p.Thr15Thr Synonymous 1/19 - 1
3-148939535-G-C c.45C>G p.Thr15Thr Synonymous 1/19 - 1
3-148939535-G-A c.45C>T p.Thr15Thr Synonymous 1/19 - 1
3-148939535-GG-AG c.45delinsT p.Thr15Thr Missense 1/19 - 1
3-148939536-GT-TG c.43_44delinsCA p.Thr15His Missense 1/19 - 1
3-148939536-G-A c.44C>T p.Thr15Ile Missense 1/19 - 1
3-148939536-GT-GA c.43delinsT p.Thr15Ser Missense 1/19 - 1
3-148939537-T-G c.43A>C p.Thr15Pro Missense 1/19 - 1
3-148939537-T-C c.43A>G p.Thr15Ala Missense 1/19 - 1
3-148939538-ACT-GAG c.40_42delinsCTC p.Ser14Leu Missense 1/19 - 2
3-148939538-ACT-TGA c.40_42delinsTCA p.Ser14Ser Nonsense 1/19 - 1
3-148939538-ACT-CAA c.40_42delinsTTG p.Ser14Leu Missense 1/19 - 1
3-148939538-AC-TG c.41_42delinsCA p.Ser14Thr Missense 1/19 - 1
3-148939538-ACT-TGG c.40_42delinsCCA p.Ser14Pro Missense 1/19 - 1
3-148939539-CT-GT c.41delinsC p.Ser14Thr Missense 1/19 - 2
3-148939539-CT-GC c.40_41delinsGC p.Ser14Ala Missense 1/19 - 26
3-148939539-CT-GA c.40_41delinsTC p.Ser14Ser Missense 1/19 - 3
3-148939539-CT-CC c.40delinsG p.Ser14Gly Missense 1/19 - 1
3-148939539-CT-TT c.41delinsA p.Ser14Asn Missense 1/19 - 2
3-148939539-C-A c.41G>T p.Ser14Ile Missense 1/19 - 1
3-148939540-T-A c.40A>T p.Ser14Cys Missense 1/19 - 13
3-148939540-T-C c.40A>G p.Ser14Gly Missense 1/19 - 2
3-148939541-ACA-AAG c.37_38delinsCT p.Cys13Leu Missense 1/19 - 1
3-148939541-A-G c.39T>C p.Cys13Cys Synonymous 1/19 - 1
3-148939542-CA-GC c.37_38delinsGC p.Cys13Ala Missense 1/19 - 2
3-148939542-C-A c.38G>T p.Cys13Phe Missense 1/19 - 1
3-148939542-C-T c.38G>A p.Cys13Tyr Missense 1/19 - 1
3-148939544-TAA-AAC c.34_36delinsGTT p.Leu12Val Missense 1/19 - 2
3-148939546-A-C c.34T>G p.Leu12Val Missense 1/19 - 1
3-148939548-A-T c.32T>A p.Phe11Tyr Missense 1/19 - 1
3-148939548-A-G c.32T>C p.Phe11Ser Missense 1/19 - 1
3-148939548-AA-CG c.31_32delinsCG p.Phe11Arg Missense 1/19 - 1
3-148939548-AA-GC c.31_32delinsGC p.Phe11Ala Missense 1/19 - 3
3-148939551-AG-GC c.28_29delinsGC p.Leu10Ala Missense 1/19 - 9
3-148939551-AG-GA c.28_29delinsTC p.Leu10Ser Missense 1/19 - 1
3-148939561-C-G c.19G>C p.Gly7Arg Missense 1/19 - 1
3-148939564-G-A c.16C>T p.Leu6Phe Missense 1/19 - 1