Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
12-12269960-G-A | c.*4100C>T | - | 3-UTRSNV | 23/23 | - | 2 |
12-12270290-A-G | c.*3770T>C | - | 3-UTRSNV | 23/23 | - | 1 |
12-12271739-T-C | c.*2321A>G | - | 3-UTRSNV | 23/23 | - | 1 |
12-12272466-C-G | c.*1594G>C | - | 3-UTRSNV | 23/23 | - | 3 |
12-12272473-T-C | c.*1587A>G | - | 3-UTRSNV | 23/23 | - | 1 |
12-12274068-A-C | c.4834T>G | p.Ser1612Ala | Missense | 23/23 | - | 1 |
12-12274080-G-A | c.4822C>T | p.Pro1608Ser | Missense | 23/23 | - | 1 |
12-12274083-A-C | c.4819T>G | p.Ser1607Ala | Missense | 23/23 | - | 1 |
12-12274102-G-C | c.4800C>G | p.His1600Gln | Missense | 23/23 | - | 1 |
12-12274110-A-C | c.4792T>G | p.Ser1598Ala | Missense | 23/23 | - | 1 |
12-12274115-CT-GC | c.4786_4787delinsGC | p.Ser1596Ala | Missense | 23/23 | - | 1 |
12-12274127-TA-GC | c.4774_4775delinsGC | p.Tyr1592Ala | Missense | 23/23 | - | 1 |
12-12274145-CT-GC | c.4756_4757delinsGC | p.Ser1586Ala | Missense | 23/23 | - | 1 |
12-12274167-A-C | c.4735T>G | p.Ser1579Ala | Missense | 23/23 | - | 1 |
12-12274178-CT-GC | c.4723_4724delinsGC | p.Ser1575Ala | Missense | 23/23 | - | 1 |
12-12274181-C-A | c.4721G>T | p.Arg1574Leu | Missense | 23/23 | - | 2 |
12-12274212-A-C | c.4690T>G | p.Ser1564Ala | Missense | 23/23 | - | 1 |
12-12274280-T-C | c.4622A>G | p.Tyr1541Cys | Missense | 23/23 | - | 1 |
12-12274308-CA-C | c.4594del | p.Cys1532Alafs*16 | Frameshift | 23/23 | - | 1 |
12-12274311-G-C | c.4591C>G | p.Pro1531Ala | Missense | 23/23 | - | 1 |
12-12274314-T-C | c.4588A>G | p.Thr1530Ala | Missense | 23/23 | - | 1 |
12-12274317-T-C | c.4585A>G | p.Thr1529Ala | Missense | 23/23 | - | 1 |
12-12274334-C-T | c.4568G>A | p.Arg1523Gln | Missense | 23/23 | - | 1 |
12-12274337-TA-GC | c.4564_4565delinsGC | p.Tyr1522Ala | Missense | 23/23 | - | 1 |
12-12274935-T-C | c.4548-581A>G | - | IntronicSNV | - | 22/22 | 7 |
12-12276378-G-A | c.4547+1121C>T | - | IntronicSNV | - | 22/22 | 1 |
12-12277082-C-T | c.4547+417G>A | - | IntronicSNV | - | 22/22 | 1 |
12-12277521-G-A | c.4525C>T | p.Pro1509Ser | Missense | 22/23 | - | 1 |
12-12277521-G-C | c.4525C>G | p.Pro1509Ala | Missense | 22/23 | - | 1 |
12-12277562-C-T | c.4484G>A | p.Arg1495Gln | Missense | 22/23 | - | 1 |
12-12277575-G-C | c.4471C>G | p.Pro1491Ala | Missense | 22/23 | - | 1 |
12-12277578-A-C | c.4468T>G | p.Ser1490Ala | Missense | 22/23 | - | 3 |
12-12277578-A-G | c.4468T>C | p.Ser1490Pro | Missense | 22/23 | - | 1 |
12-12277578-A-T | c.4468T>A | p.Ser1490Thr | Missense | 22/23 | - | 1 |
12-12277584-G-C | c.4462C>G | p.Pro1488Ala | Missense | 22/23 | - | 1 |
12-12277586-GG-TG | c.4460delinsA | p.Pro1487His | Missense | 22/23 | - | 1 |
12-12277587-G-C | c.4459C>G | p.Pro1487Ala | Missense | 22/23 | - | 1 |
12-12277589-TT-GC | c.4456_4457delinsGC | p.Asn1486Ala | Missense | 22/23 | - | 1 |
12-12277847-T-G | c.4450-251A>C | - | IntronicSNV | - | 21/22 | 1 |
12-12278234-G-A | c.4445C>T | p.Pro1482Leu | Missense | 21/23 | - | 2 |
12-12278243-G-A | c.4436C>T | p.Thr1479Ile | Missense | 21/23 | - | 2 |
12-12278244-T-G | c.4435A>C | p.Thr1479Pro | Missense | 21/23 | - | 1 |
12-12278309-C-A | c.4370G>T | p.Gly1457Val | Missense | 21/23 | - | 1 |
12-12278335-G-A | c.4344C>T | p.Ser1448Ser | Synonymous | 21/23 | - | 1 |
12-12278356-TCG-TGT | c.4321_4322delinsAC | p.Arg1441Thr | Missense | 21/23 | - | 1 |
12-12278358-G-C | c.4321C>G | p.Arg1441Gly | Missense | 21/23 | - | 2 |
12-12278468-A-T | c.4313-102T>A | - | IntronicSNV | - | 20/22 | 2 |
12-12279361-G-A | c.4312+264C>T | - | IntronicSNV | - | 20/22 | 1 |
12-12279395-T-C | c.4312+230A>G | - | IntronicSNV | - | 20/22 | 1 |
12-12279639-G-A | c.4298C>T | p.Ser1433Leu | Missense | 20/23 | - | 1 |
12-12279642-A-G | c.4295T>C | p.Leu1432Ser | Missense | 20/23 | - | 1 |
12-12279723-T-A | c.4214A>T | p.Asp1405Val | Missense | 20/23 | - | 1 |
12-12279729-T-C | c.4208A>G | p.Lys1403Arg | Missense | 20/23 | - | 1 |
12-12279735-C-T | c.4202G>A | p.Arg1401His | Missense | 20/23 | - | 1 |
12-12279741-CA-GC | c.4195_4196delinsGC | p.Cys1399Ala | Missense | 20/23 | - | 1 |
12-12279756-CA-GC | c.4180_4181delinsGC | p.Cys1394Ala | Missense | 20/23 | - | 1 |
12-12279780-A-C | c.4157T>G | p.Val1386Gly | Missense | 20/23 | - | 1 |
12-12279781-C-A | c.4156G>T | p.Val1386Leu | Missense | 20/23 | - | 3 |
12-12279781-C-G | c.4156G>C | p.Val1386Leu | Missense | 20/23 | - | 3 |
12-12279793-C-A | c.4144G>T | p.Val1382Phe | Missense | 20/23 | - | 3 |
12-12279799-C-A | c.4138G>T | p.Val1380Leu | Missense | 20/23 | - | 1 |
12-12279799-C-T | c.4138G>A | p.Val1380Ile | Missense | 20/23 | - | 1 |
12-12279801-C-T | c.4136G>A | p.Gly1379Asp | Missense | 20/23 | - | 1 |
12-12279829-C-T | c.4108G>A | p.Ala1370Thr | Missense | 20/23 | - | 1 |
12-12279857-T-C | c.4082-2A>G | - | IntronicSNV | - | 19/22 | 1 |
12-12280310-G-A | c.4082-455C>T | - | IntronicSNV | - | 19/22 | 1 |
12-12280580-G-GAGGC | c.4082-726_4082-725insGCCT | - | IntronicInsertion | - | 19/22 | 1 |
12-12280580-G-GGC | c.4082-726_4082-725insGC | - | IntronicInsertion | - | 19/22 | 1 |
12-12280952-G-A | c.4082-1097C>T | - | IntronicSNV | - | 19/22 | 1 |
12-12281006-C-T | c.4082-1151G>A | - | IntronicSNV | - | 19/22 | 1 |
12-12283731-T-C | c.4067A>G | p.Asp1356Gly | Missense | 19/23 | - | 1 |
12-12283731-T-G | c.4067A>C | p.Asp1356Ala | Missense | 19/23 | - | 1 |
12-12283747-A-C | c.4051T>G | p.Cys1351Gly | Missense | 19/23 | - | 1 |
12-12283783-T-G | c.4015A>C | p.Ile1339Leu | Missense | 19/23 | - | 1 |
12-12283804-G-A | c.3994C>T | p.Arg1332Cys | Missense | 19/23 | - | 1 |
12-12283813-TCAAT-T | c.3984_3987del | p.Asp1329Serfs*51 | Frameshift | 19/23 | - | 1 |
12-12284590-G-A | c.3970+165C>T | - | IntronicSNV | - | 18/22 | 3 |
12-12284768-C-A | c.3957G>T | p.Glu1319Asp | Missense | 18/23 | - | 1 |
12-12284768-C-G | c.3957G>C | p.Glu1319Asp | Missense | 18/23 | - | 1 |
12-12284770-C-T | c.3955G>A | p.Glu1319Lys | Missense | 18/23 | - | 1 |
12-12284776-A-G | c.3949T>C | p.Ser1317Pro | Missense | 18/23 | - | 1 |
12-12284782-C-T | c.3943G>A | p.Asp1315Asn | Missense | 18/23 | - | 1 |
12-12284815-C-T | c.3910G>A | p.Ala1304Thr | Missense | 18/23 | - | 1 |
12-12284821-C-T | c.3904G>A | p.Asp1302Asn | Missense | 18/23 | - | 1 |
12-12284862-C-T | c.3863G>A | p.Cys1288Tyr | Missense | 18/23 | - | 1 |
12-12284915-G-A | c.3810C>T | p.Cys1270Cys | Synonymous | 18/23 | - | 10 |
12-12284922-C-A | c.3803G>T | p.Trp1268Leu | Missense | 18/23 | - | 1 |
12-12284935-T-C | c.3790A>G | p.Ile1264Val | Missense | 18/23 | - | 3 |
12-12287821-T-A | c.3733+288A>T | - | IntronicSNV | - | 17/22 | 1 |
12-12287821-T-C | c.3733+288A>G | - | IntronicSNV | - | 17/22 | 1 |
12-12288162-C-T | c.3680G>A | p.Arg1227Lys | Missense | 17/23 | - | 1 |
12-12288225-G-A | c.3617C>T | p.Pro1206Leu | Missense | 17/23 | - | 1 |
12-12288225-G-T | c.3617C>A | p.Pro1206His | Missense | 17/23 | - | 3 |
12-12288226-G-C | c.3616C>G | p.Pro1206Ala | Missense | 17/23 | - | 1 |
12-12289156-T-C | c.3608-922A>G | - | IntronicSNV | - | 16/22 | 3 |
12-12290000-T-A | c.3607+1259A>T | - | IntronicSNV | - | 16/22 | 1 |
12-12290000-T-C | c.3607+1259A>G | - | IntronicSNV | - | 16/22 | 1 |
12-12291281-C-T | c.3585G>A | p.Lys1195Lys | Synonymous | 16/23 | - | 1 |
12-12291315-CG-GC | c.3550_3551delinsGC | p.Arg1184Ala | Missense | 16/23 | - | 1 |
12-12291339-T-G | c.3527A>C | p.Glu1176Ala | Missense | 16/23 | - | 1 |
12-12291423-A-G | c.3443T>C | p.Val1148Ala | Missense | 16/23 | - | 1 |
12-12291470-T-G | c.3398-2A>C | - | IntronicSNV | - | 15/22 | 1 |
12-12291479-G-A | c.3398-11C>T | - | IntronicSNV | - | 15/22 | 12 |
12-12291479-G-C | c.3398-11C>G | - | IntronicSNV | - | 15/22 | 12 |
12-12291638-C-T | c.3398-170G>A | - | IntronicSNV | - | 15/22 | 4 |
12-12293638-C-G | c.3398-2170G>C | - | IntronicSNV | - | 15/22 | 2 |
12-12293638-C-T | c.3398-2170G>A | - | IntronicSNV | - | 15/22 | 2 |
12-12296956-G-A | c.3397+3344C>T | - | IntronicSNV | - | 15/22 | 1 |
12-12297976-T-A | c.3397+2324A>T | - | IntronicSNV | - | 15/22 | 1 |
12-12297976-T-C | c.3397+2324A>G | - | IntronicSNV | - | 15/22 | 1 |
12-12298710-T-C | c.3397+1590A>G | - | IntronicSNV | - | 15/22 | 1 |
12-12299769-G-A | c.3397+531C>T | - | IntronicSNV | - | 15/22 | 8 |
12-12300169-C-T | c.3397+131G>A | - | IntronicSNV | - | 15/22 | 1 |
12-12300332-T-G | c.3365A>C | p.Asp1122Ala | Missense | 15/23 | - | 1 |
12-12300446-T-G | c.3251A>C | p.Glu1084Ala | Missense | 15/23 | - | 1 |
12-12300602-A-C | c.3207-112T>G | - | IntronicSNV | - | 14/22 | 1 |
12-12301494-C-T | c.3206+382G>A | - | IntronicSNV | - | 14/22 | 1 |
12-12301886-G-T | c.3196C>A | p.Pro1066Thr | Missense | 14/23 | - | 3 |
12-12301898-C-T | c.3184G>A | p.Val1062Ile | Missense | 14/23 | - | 31 |
12-12301951-T-A | c.3131A>T | p.Asp1044Val | Missense | 14/23 | - | 1 |
12-12302006-G-A | c.3076C>T | p.Arg1026Cys | Missense | 14/23 | - | 1 |
12-12302087-C-G | c.2995G>C | p.Gly999Arg | Missense | 14/23 | - | 1 |
12-12302422-C-A | c.2995-335G>T | - | IntronicSNV | - | 13/22 | 2 |
12-12302422-C-T | c.2995-335G>A | - | IntronicSNV | - | 13/22 | 2 |
12-12302884-A-G | c.2995-797T>C | - | IntronicSNV | - | 13/22 | 1 |
12-12303769-C-T | c.2994+1G>A | - | IntronicSNV | - | 13/22 | 1 |
12-12303783-T-TT | c.2982dup | p.Asp995Argfs*24 | Frameshift | 13/23 | - | 1 |
12-12303837-T-C | c.2927A>G | p.Asp976Gly | Missense | 13/23 | - | 1 |
12-12303861-C-T | c.2903G>A | p.Arg968Gln | Missense | 13/23 | - | 1 |
12-12303899-G-A | c.2865C>T | p.Pro955Pro | Synonymous | 13/23 | - | 1 |
12-12303927-CG-GC | c.2836_2837delinsGC | p.Arg946Ala | Missense | 13/23 | - | 1 |
12-12305396-A-T | c.2792-1424T>A | - | IntronicSNV | - | 12/22 | 1 |
12-12307201-G-GA | c.2792-3230_2792-3229insT | - | IntronicInsertion | - | 12/22 | 1 |
12-12307644-G-A | c.2792-3672C>T | - | IntronicSNV | - | 12/22 | 2 |
12-12308011-A-T | c.2791+3752T>A | - | IntronicSNV | - | 12/22 | 1 |
12-12308013-T-A | c.2791+3750A>T | - | IntronicSNV | - | 12/22 | 1 |
12-12308013-T-C | c.2791+3750A>G | - | IntronicSNV | - | 12/22 | 1 |
12-12309096-T-C | c.2791+2667A>G | - | IntronicSNV | - | 12/22 | 1 |
12-12309687-C-T | c.2791+2076G>A | - | IntronicSNV | - | 12/22 | 3 |
12-12311367-A-C | c.2791+396T>G | - | IntronicSNV | - | 12/22 | 1 |
12-12311799-G-C | c.2755C>G | p.His919Asp | Missense | 12/23 | - | 1 |
12-12311815-A-C | c.2739T>G | p.Val913Val | Synonymous | 12/23 | - | 1 |
12-12311896-TCG-TGG | c.2657delinsC | p.Arg886Pro | Missense | 12/23 | - | 1 |
12-12311913-C-T | c.2641G>A | p.Val881Ile | Missense | 12/23 | - | 1 |
12-12311924-AT-GC | c.2629_2630delinsGC | p.Met877Ala | Missense | 12/23 | - | 1 |
12-12311930-TA-GC | c.2623_2624delinsGC | p.Tyr875Ala | Missense | 12/23 | - | 1 |
12-12311955-T-C | c.2599A>G | p.Thr867Ala | Missense | 12/23 | - | 3 |
12-12312053-TG-GC | c.2500_2501delinsGC | p.His834Ala | Missense | 12/23 | - | 1 |
12-12312728-G-C | c.2450C>G | p.Ser817Cys | Missense | 11/23 | - | 4 |
12-12312740-TT-GC | c.2437_2438delinsGC | p.Asn813Ala | Missense | 11/23 | - | 1 |
12-12312745-GTC-AAG | c.2431_2433delinsCTT | p.Asp811Leu | Missense | 11/23 | - | 1 |
12-12312810-C-T | c.2368G>A | p.Val790Met | Missense | 11/23 | - | 1 |
12-12312812-T-C | c.2366A>G | p.Asn789Ser | Missense | 11/23 | - | 3 |
12-12312849-C-G | c.2329G>C | p.Ala777Pro | Missense | 11/23 | - | 1 |
12-12312854-C-T | c.2324G>A | p.Arg775Lys | Missense | 11/23 | - | 1 |
12-12312875-C-A | c.2303G>T | p.Gly768Val | Missense | 11/23 | - | 1 |
12-12312877-C-T | c.2301G>A | p.Trp767* | Nonsense | 11/23 | - | 1 |
12-12312878-CA-GC | c.2299_2300delinsGC | p.Trp767Ala | Missense | 11/23 | - | 1 |
12-12314602-G-A | c.2279+525C>T | - | IntronicSNV | - | 10/22 | 1 |
12-12315191-G-C | c.2215C>G | p.Arg739Gly | Missense | 10/23 | - | 1 |
12-12315203-C-T | c.2203G>A | p.Asp735Asn | Missense | 10/23 | - | 1 |
12-12315223-CG-GC | c.2182_2183delinsGC | p.Arg728Ala | Missense | 10/23 | - | 1 |
12-12315228-C-T | c.2178G>A | p.Thr726Thr | Synonymous | 10/23 | - | 1 |
12-12315238-TC-CG | c.2167_2168delinsCG | p.Asp723Arg | Missense | 10/23 | - | 1 |
12-12315283-T-G | c.2123A>C | p.Glu708Ala | Missense | 10/23 | - | 1 |
12-12315284-C-T | c.2122G>A | p.Glu708Lys | Missense | 10/23 | - | 1 |
12-12315289-TA-GC | c.2116_2117delinsGC | p.Tyr706Ala | Missense | 10/23 | - | 1 |
12-12315310-A-C | c.2096T>G | p.Val699Gly | Missense | 10/23 | - | 1 |
12-12315348-G-C | c.2058C>G | p.Ile686Met | Missense | 10/23 | - | 1 |
12-12315857-T-C | c.2053-504A>G | - | IntronicSNV | - | 9/22 | 1 |
12-12315880-T-G | c.2053-527A>C | - | IntronicSNV | - | 9/22 | 2 |
12-12316922-G-T | c.2052+285C>A | - | IntronicSNV | - | 9/22 | 1 |
12-12317217-A-C | c.2042T>G | p.Ile681Arg | Missense | 9/23 | - | 1 |
12-12317271-T-G | c.1988A>C | p.Glu663Ala | Missense | 9/23 | - | 1 |
12-12317322-G-C | c.1937C>G | p.Ser646Cys | Missense | 9/23 | - | 1 |
12-12317328-CG-GC | c.1930_1931delinsGC | p.Arg644Ala | Missense | 9/23 | - | 1 |
12-12317383-T-C | c.1876A>G | p.Thr626Ala | Missense | 9/23 | - | 1 |
12-12317387-C-G | c.1872G>C | p.Met624Ile | Missense | 9/23 | - | 1 |
12-12317428-G-A | c.1831C>T | p.Arg611Cys | Missense | 9/23 | - | 38 |
12-12317480-A-AA | c.1779dup | p.Glu594* | Nonsense | 9/23 | - | 2 |
12-12317901-A-G | c.1762+112T>C | - | IntronicSNV | - | 8/22 | 1 |
12-12318074-CA-AC | c.1700_1701delinsGT | p.Val567Gly | Missense | 8/23 | - | 1 |
12-12318095-TT-TG | c.1679delinsC | p.Lys560Thr | Missense | 8/23 | - | 1 |
12-12318129-T-C | c.1646A>G | p.Asp549Gly | Missense | 8/23 | - | 1 |
12-12318132-G-A | c.1643C>T | p.Thr548Ile | Missense | 8/23 | - | 1 |
12-12318144-T-C | c.1631A>G | p.Tyr544Cys | Missense | 8/23 | - | 2 |
12-12318150-C-T | c.1625G>A | p.Gly542Asp | Missense | 8/23 | - | 1 |
12-12318155-C-A | c.1620G>T | p.Leu540Phe | Missense | 8/23 | - | 1 |
12-12318166-C-T | c.1609G>A | p.Gly537Arg | Missense | 8/23 | - | 1 |
12-12318210-G-C | c.1565C>G | p.Thr522Ser | Missense | 8/23 | - | 1 |
12-12318211-T-A | c.1564A>T | p.Thr522Ser | Missense | 8/23 | - | 1 |
12-12318383-A-G | c.1546-154T>C | - | IntronicSNV | - | 7/22 | 1 |
12-12319936-A-G | c.1546-1707T>C | - | IntronicSNV | - | 7/22 | 1 |
12-12321181-A-C | c.1546-2952T>G | - | IntronicSNV | - | 7/22 | 2 |
12-12321927-C-A | c.1546-3698G>T | - | IntronicSNV | - | 7/22 | 1 |
12-12323618-C-G | c.1546-5389G>C | - | IntronicSNV | - | 7/22 | 3 |
12-12323618-C-T | c.1546-5389G>A | - | IntronicSNV | - | 7/22 | 3 |
12-12324184-C-G | c.1546-5955G>C | - | IntronicSNV | - | 7/22 | 1 |
12-12324184-C-T | c.1546-5955G>A | - | IntronicSNV | - | 7/22 | 1 |
12-12324841-A-G | c.1546-6612T>C | - | IntronicSNV | - | 7/22 | 2 |
12-12326568-C-T | c.1545+6176G>A | - | IntronicSNV | - | 7/22 | 1 |
12-12326654-A-C | c.1545+6090T>G | - | IntronicSNV | - | 7/22 | 1 |
12-12326654-A-T | c.1545+6090T>A | - | IntronicSNV | - | 7/22 | 1 |
12-12327121-C-G | c.1545+5623G>C | - | IntronicSNV | - | 7/22 | 1 |
12-12327655-T-C | c.1545+5089A>G | - | IntronicSNV | - | 7/22 | 2 |
12-12328764-T-C | c.1545+3980A>G | - | IntronicSNV | - | 7/22 | 1 |
12-12328764-T-G | c.1545+3980A>C | - | IntronicSNV | - | 7/22 | 1 |
12-12329686-T-A | c.1545+3058A>T | - | IntronicSNV | - | 7/22 | 2 |
12-12330179-G-A | c.1545+2565C>T | - | IntronicSNV | - | 7/22 | 1 |
12-12330179-G-C | c.1545+2565C>G | - | IntronicSNV | - | 7/22 | 1 |
12-12331327-C-T | c.1545+1417G>A | - | IntronicSNV | - | 7/22 | 1 |
12-12331375-C-A | c.1545+1369G>T | - | IntronicSNV | - | 7/22 | 4 |
12-12331375-C-T | c.1545+1369G>A | - | IntronicSNV | - | 7/22 | 4 |
12-12331538-A-G | c.1545+1206T>C | - | IntronicSNV | - | 7/22 | 1 |
12-12332196-C-T | c.1545+548G>A | - | IntronicSNV | - | 7/22 | 8 |
12-12332808-C-T | c.1481G>A | p.Gly494Asp | Missense | 7/23 | - | 5 |
12-12332826-G-T | c.1463C>A | p.Ser488Tyr | Missense | 7/23 | - | 3 |
12-12332832-T-C | c.1457A>G | p.Asn486Ser | Missense | 7/23 | - | 1 |
12-12332842-C-A | c.1447G>T | p.Val483Leu | Missense | 7/23 | - | 4 |
12-12332842-C-T | c.1447G>A | p.Val483Ile | Missense | 7/23 | - | 4 |
12-12332871-C-T | c.1418G>A | p.Arg473Gln | Missense | 7/23 | - | 5 |
12-12332883-G-A | c.1406C>T | p.Pro469Leu | Missense | 7/23 | - | 1 |
12-12333352-C-T | c.1374-437G>A | - | IntronicSNV | - | 6/22 | 5 |
12-12334004-CG-GC | c.1345_1346delinsGC | p.Arg449Ala | Missense | 6/23 | - | 1 |
12-12334006-G-C | c.1344C>G | p.Pro448Pro | Synonymous | 6/23 | - | 4 |
12-12334006-G-T | c.1344C>A | p.Pro448Pro | Synonymous | 6/23 | - | 4 |
12-12334028-A-AA | c.1324dup | p.Ser442Phefs*23 | Frameshift | 6/23 | - | 1 |
12-12334037-T-A | c.1313A>T | p.Lys438Met | Missense | 6/23 | - | 2 |
12-12334037-T-C | c.1313A>G | p.Lys438Arg | Missense | 6/23 | - | 1 |
12-12334052-T-C | c.1298A>G | p.Asn433Ser | Missense | 6/23 | - | 6 |
12-12334055-AG-GG | c.1295delinsC | p.Leu432Pro | Missense | 6/23 | - | 1 |
12-12334073-CG-GC | c.1276_1277delinsGC | p.Arg426Ala | Missense | 6/23 | - | 2 |
12-12334098-A-G | c.1252T>C | p.Tyr418His | Missense | 6/23 | - | 2 |
12-12334138-ATG-AAG | c.1211delinsT | p.His404Leu | Missense | 6/23 | - | 1 |
12-12334194-G-A | c.1156C>T | p.Arg386Cys | Missense | 6/23 | - | 1 |
12-12334198-T-C | c.1152A>G | p.Ile384Met | Missense | 6/23 | - | 1 |
12-12334232-T-C | c.1118A>G | p.Tyr373Cys | Missense | 6/23 | - | 2 |
12-12334248-C-T | c.1102G>A | p.Asp368Asn | Missense | 6/23 | - | 1 |
12-12334251-A-T | c.1099T>A | p.Tyr367Asn | Missense | 6/23 | - | 1 |
12-12334271-C-T | c.1079G>A | p.Arg360His | Missense | 6/23 | - | 5 |
12-12334281-C-T | c.1069G>A | p.Glu357Lys | Missense | 6/23 | - | 1 |
12-12334284-A-G | c.1066T>C | p.Leu356Leu | Synonymous | 6/23 | - | 1 |
12-12334304-AA-GC | c.1045_1046delinsGC | p.Phe349Ala | Missense | 6/23 | - | 1 |
12-12334304-A-T | c.1046T>A | p.Phe349Tyr | Missense | 6/23 | - | 1 |
12-12334328-CG-GC | c.1021_1022delinsGC | p.Arg341Ala | Missense | 6/23 | - | 1 |
12-12334331-CT-GC | c.1018_1019delinsGC | p.Arg340Ala | Missense | 6/23 | - | 1 |
12-12334346-C-A | c.1004G>T | p.Arg335Leu | Missense | 6/23 | - | 1 |
12-12336966-A-G | c.924T>C | p.Cys308Cys | Synonymous | 5/23 | - | 2 |
12-12336974-A-G | c.916T>C | p.Tyr306His | Missense | 5/23 | - | 3 |
12-12337006-T-C | c.884A>G | p.His295Arg | Missense | 5/23 | - | 3 |
12-12337023-G-A | c.867C>T | p.Asp289Asp | Synonymous | 5/23 | - | 2 |
12-12337061-C-T | c.845-16G>A | - | IntronicSNV | - | 4/22 | 1 |
12-12337813-T-A | c.845-768A>T | - | IntronicSNV | - | 4/22 | 2 |
12-12337813-T-C | c.845-768A>G | - | IntronicSNV | - | 4/22 | 2 |
12-12338554-A-G | c.844+1303T>C | - | IntronicSNV | - | 4/22 | 1 |
12-12339624-T-G | c.844+233A>C | - | IntronicSNV | - | 4/22 | 1 |
12-12339924-ACG-GAG | c.776_777delinsTC | p.Arg259Leu | Missense | 4/23 | - | 1 |
12-12339925-C-T | c.776G>A | p.Arg259His | Missense | 4/23 | - | 1 |
12-12339946-TT-GC | c.754_755delinsGC | p.Lys252Ala | Missense | 4/23 | - | 3 |
12-12339976-C-A | c.725G>T | p.Trp242Leu | Missense | 4/23 | - | 1 |
12-12339985-C-A | c.716G>T | p.Trp239Leu | Missense | 4/23 | - | 3 |
12-12339991-AA-GC | c.709_710delinsGC | p.Leu237Ala | Missense | 4/23 | - | 1 |
12-12339997-T-C | c.704A>G | p.Asp235Gly | Missense | 4/23 | - | 1 |
12-12340034-A-C | c.667T>G | p.Ser223Ala | Missense | 4/23 | - | 1 |
12-12342230-A-G | c.648-2177T>C | - | IntronicSNV | - | 3/22 | 2 |
12-12342594-C-A | c.648-2541G>T | - | IntronicSNV | - | 3/22 | 1 |
12-12345705-G-A | c.648-5652C>T | - | IntronicSNV | - | 3/22 | 1 |
12-12345893-A-G | c.648-5840T>C | - | IntronicSNV | - | 3/22 | 1 |
12-12347909-C-T | c.648-7856G>A | - | IntronicSNV | - | 3/22 | 1 |
12-12348899-G-A | c.647+7238C>T | - | IntronicSNV | - | 3/22 | 1 |
12-12348899-G-C | c.647+7238C>G | - | IntronicSNV | - | 3/22 | 1 |
12-12350113-G-A | c.647+6024C>T | - | IntronicSNV | - | 3/22 | 4 |
12-12350113-G-C | c.647+6024C>G | - | IntronicSNV | - | 3/22 | 4 |
12-12352066-A-G | c.647+4071T>C | - | IntronicSNV | - | 3/22 | 1 |
12-12352066-A-T | c.647+4071T>A | - | IntronicSNV | - | 3/22 | 1 |
12-12354407-C-T | c.647+1730G>A | - | IntronicSNV | - | 3/22 | 1 |
12-12356157-TG-GT | c.626_627delinsAC | p.Ser209Tyr | Missense | 3/23 | - | 1 |
12-12356158-GA-CA | c.626delinsG | p.Ser209* | Missense | 3/23 | - | 1 |
12-12356158-GA-GG | c.625delinsC | p.Ser209Pro | Missense | 3/23 | - | 1 |
12-12356159-A-C | c.625T>G | p.Ser209Ala | Missense | 3/23 | - | 5 |
12-12356159-A-T | c.625T>A | p.Ser209Thr | Missense | 3/23 | - | 1 |
12-12356165-G-A | c.619C>T | p.His207Tyr | Missense | 3/23 | - | 1 |
12-12356185-T-C | c.599A>G | p.Asp200Gly | Missense | 3/23 | - | 1 |
12-12356192-A-G | c.592T>C | p.Trp198Arg | Missense | 3/23 | - | 1 |
12-12356230-TT-GC | c.553_554delinsGC | p.Asn185Ala | Missense | 3/23 | - | 1 |
12-12356263-A-T | c.521T>A | p.Phe174Tyr | Missense | 3/23 | - | 1 |
12-12356267-G-C | c.517C>G | p.Arg173Gly | Missense | 3/23 | - | 1 |
12-12356273-A-C | c.511T>G | p.Ser171Ala | Missense | 3/23 | - | 1 |
12-12356275-C-A | c.509G>T | p.Gly170Val | Missense | 3/23 | - | 1 |
12-12356311-C-A | c.473G>T | p.Gly158Val | Missense | 3/23 | - | 5 |
12-12356317-GT-G | c.467del | p.Asp156Alafs*8 | Frameshift | 3/23 | - | 1 |
12-12356900-A-G | c.450-566T>C | - | IntronicSNV | - | 2/22 | 4 |
12-12358524-C-A | c.450-2190G>T | - | IntronicSNV | - | 2/22 | 1 |
12-12358953-G-A | c.450-2619C>T | - | IntronicSNV | - | 2/22 | 1 |
12-12361919-G-A | c.450-5585C>T | - | IntronicSNV | - | 2/22 | 1 |
12-12362440-C-T | c.450-6106G>A | - | IntronicSNV | - | 2/22 | 2 |
12-12362624-A-G | c.450-6290T>C | - | IntronicSNV | - | 2/22 | 1 |
12-12364268-T-A | c.450-7934A>T | - | IntronicSNV | - | 2/22 | 1 |
12-12364268-T-C | c.450-7934A>G | - | IntronicSNV | - | 2/22 | 1 |
12-12364269-G-A | c.450-7935C>T | - | IntronicSNV | - | 2/22 | 1 |
12-12364269-G-C | c.450-7935C>G | - | IntronicSNV | - | 2/22 | 1 |
12-12364270-G-A | c.450-7936C>T | - | IntronicSNV | - | 2/22 | 1 |
12-12364411-T-C | c.450-8077A>G | - | IntronicSNV | - | 2/22 | 1 |
12-12365325-A-G | c.450-8991T>C | - | IntronicSNV | - | 2/22 | 5 |
12-12365529-A-G | c.450-9195T>C | - | IntronicSNV | - | 2/22 | 1 |
12-12366782-C-T | c.450-10448G>A | - | IntronicSNV | - | 2/22 | 1 |
12-12367420-A-C | c.450-11086T>G | - | IntronicSNV | - | 2/22 | 1 |
12-12367588-T-G | c.450-11254A>C | - | IntronicSNV | - | 2/22 | 4 |
12-12371329-T-C | c.450-14995A>G | - | IntronicSNV | - | 2/22 | 1 |
12-12371763-C-A | c.450-15429G>T | - | IntronicSNV | - | 2/22 | 1 |
12-12376465-A-G | c.450-20131T>C | - | IntronicSNV | - | 2/22 | 3 |
12-12378065-G-A | c.449+19131C>T | - | IntronicSNV | - | 2/22 | 1 |
12-12378065-G-C | c.449+19131C>G | - | IntronicSNV | - | 2/22 | 1 |
12-12378126-G-A | c.449+19070C>T | - | IntronicSNV | - | 2/22 | 1 |
12-12379293-G-A | c.449+17903C>T | - | IntronicSNV | - | 2/22 | 1 |
12-12379293-G-C | c.449+17903C>G | - | IntronicSNV | - | 2/22 | 1 |
12-12380399-C-A | c.449+16797G>T | - | IntronicSNV | - | 2/22 | 1 |
12-12380399-C-T | c.449+16797G>A | - | IntronicSNV | - | 2/22 | 1 |
12-12381094-C-T | c.449+16102G>A | - | IntronicSNV | - | 2/22 | 1 |
12-12383206-T-C | c.449+13990A>G | - | IntronicSNV | - | 2/22 | 1 |
12-12386549-A-G | c.449+10647T>C | - | IntronicSNV | - | 2/22 | 1 |
12-12386726-T-A | c.449+10470A>T | - | IntronicSNV | - | 2/22 | 1 |
12-12386726-T-C | c.449+10470A>G | - | IntronicSNV | - | 2/22 | 1 |
12-12387981-C-T | c.449+9215G>A | - | IntronicSNV | - | 2/22 | 1 |
12-12388027-T-A | c.449+9169A>T | - | IntronicSNV | - | 2/22 | 3 |
12-12390657-C-G | c.449+6539G>C | - | IntronicSNV | - | 2/22 | 1 |
12-12390657-C-T | c.449+6539G>A | - | IntronicSNV | - | 2/22 | 1 |
12-12392359-C-T | c.449+4837G>A | - | IntronicSNV | - | 2/22 | 1 |
12-12393895-T-C | c.449+3301A>G | - | IntronicSNV | - | 2/22 | 1 |
12-12393911-C-A | c.449+3285G>T | - | IntronicSNV | - | 2/22 | 1 |
12-12393911-C-T | c.449+3285G>A | - | IntronicSNV | - | 2/22 | 1 |
12-12394574-G-A | c.449+2622C>T | - | IntronicSNV | - | 2/22 | 6 |
12-12394574-G-C | c.449+2622C>G | - | IntronicSNV | - | 2/22 | 6 |
12-12394993-C-A | c.449+2203G>T | - | IntronicSNV | - | 2/22 | 2 |
12-12396130-T-C | c.449+1066A>G | - | IntronicSNV | - | 2/22 | 3 |
12-12397199-C-T | c.446G>A | p.Ser149Asn | Missense | 2/23 | - | 1 |
12-12397218-T-C | c.427A>G | p.Ile143Val | Missense | 2/23 | - | 1 |
12-12397250-AA-GC | c.394_395delinsGC | p.Leu132Ala | Missense | 2/23 | - | 1 |
12-12397257-T-A | c.388A>T | p.Lys130* | Nonsense | 2/23 | - | 2 |
12-12397259-CG-GC | c.385_386delinsGC | p.Arg129Ala | Missense | 2/23 | - | 1 |
12-12397262-AA-GC | c.382_383delinsGC | p.Leu128Ala | Missense | 2/23 | - | 1 |
12-12397266-A-C | c.379T>G | p.Ser127Ala | Missense | 2/23 | - | 1 |
12-12397266-A-T | c.379T>A | p.Ser127Thr | Missense | 2/23 | - | 3 |
12-12397288-AAT-GAG | c.355_357delinsCTC | p.Ile119Leu | Missense | 2/23 | - | 1 |
12-12397291-CCG-AAC | c.352_354delinsGTT | p.Arg118Val | Missense | 2/23 | - | 1 |
12-12397292-CG-GC | c.352_353delinsGC | p.Arg118Ala | Missense | 2/23 | - | 3 |
12-12397292-C-T | c.353G>A | p.Arg118Gln | Missense | 2/23 | - | 1 |
12-12397293-G-C | c.352C>G | p.Arg118Gly | Missense | 2/23 | - | 1 |
12-12397326-C-G | c.319G>C | p.Glu107Gln | Missense | 2/23 | - | 1 |
12-12397359-A-C | c.286T>G | p.Ser96Ala | Missense | 2/23 | - | 1 |
12-12397367-C-G | c.278G>C | p.Gly93Ala | Missense | 2/23 | - | 1 |
12-12397399-T-A | c.246A>T | p.Lys82Asn | Missense | 2/23 | - | 3 |
12-12397399-T-G | c.246A>C | p.Lys82Asn | Missense | 2/23 | - | 3 |
12-12397400-T-C | c.245A>G | p.Lys82Arg | Missense | 2/23 | - | 1 |
12-12397404-T-G | c.241A>C | p.Asn81His | Missense | 2/23 | - | 1 |
12-12397454-AA-CC | c.190_191delinsGG | p.Leu64Gly | Missense | 2/23 | - | 1 |
12-12397485-C-T | c.160G>A | p.Ala54Thr | Missense | 2/23 | - | 1 |
12-12397488-C-T | c.157G>A | p.Ala53Thr | Missense | 2/23 | - | 1 |
12-12397513-CGT-GAC | c.130_132delinsGTC | p.Thr44Val | Missense | 2/23 | - | 1 |
12-12397515-T-C | c.130A>G | p.Thr44Ala | Missense | 2/23 | - | 2 |
12-12397530-C-T | c.115G>A | p.Gly39Ser | Missense | 2/23 | - | 1 |
12-12397535-G-A | c.110C>T | p.Thr37Ile | Missense | 2/23 | - | 1 |
12-12397550-C-T | c.95G>A | p.Arg32Gln | Missense | 2/23 | - | 1 |
12-12397568-G-T | c.77C>A | p.Ala26Glu | Missense | 2/23 | - | 1 |
12-12397585-GG-AG | c.60delinsT | p.Ala20Ala | Missense | 2/23 | - | 1 |
12-12397589-G-A | c.56C>T | p.Ala19Val | Missense | 2/23 | - | 3 |
12-12397654-C-G | c.56-65G>C | - | IntronicSNV | - | 1/22 | 1 |
12-12397654-C-T | c.56-65G>A | - | IntronicSNV | - | 1/22 | 1 |
12-12397668-T-A | c.56-79A>T | - | IntronicSNV | - | 1/22 | 1 |
12-12397670-A-G | c.56-81T>C | - | IntronicSNV | - | 1/22 | 1 |
12-12397670-A-T | c.56-81T>A | - | IntronicSNV | - | 1/22 | 1 |
12-12397897-C-G | c.56-308G>C | - | IntronicSNV | - | 1/22 | 1 |
12-12398144-G-A | c.56-555C>T | - | IntronicSNV | - | 1/22 | 1 |
12-12398144-G-C | c.56-555C>G | - | IntronicSNV | - | 1/22 | 1 |
12-12403990-T-A | c.56-6401A>T | - | IntronicSNV | - | 1/22 | 1 |
12-12403990-T-G | c.56-6401A>C | - | IntronicSNV | - | 1/22 | 1 |
12-12404903-C-T | c.56-7314G>A | - | IntronicSNV | - | 1/22 | 1 |
12-12405872-A-G | c.56-8283T>C | - | IntronicSNV | - | 1/22 | 2 |
12-12406412-G-A | c.56-8823C>T | - | IntronicSNV | - | 1/22 | 1 |
12-12406915-C-A | c.56-9326G>T | - | IntronicSNV | - | 1/22 | 1 |
12-12408377-C-G | c.56-10788G>C | - | IntronicSNV | - | 1/22 | 1 |
12-12408377-C-T | c.56-10788G>A | - | IntronicSNV | - | 1/22 | 1 |
12-12410964-G-A | c.55+8651C>T | - | IntronicSNV | - | 1/22 | 1 |
12-12412795-T-A | c.55+6820A>T | - | IntronicSNV | - | 1/22 | 6 |
12-12412795-T-C | c.55+6820A>G | - | IntronicSNV | - | 1/22 | 6 |
12-12412795-T-G | c.55+6820A>C | - | IntronicSNV | - | 1/22 | 6 |
12-12412920-G-A | c.55+6695C>T | - | IntronicSNV | - | 1/22 | 1 |
12-12412920-G-C | c.55+6695C>G | - | IntronicSNV | - | 1/22 | 1 |
12-12413039-G-A | c.55+6576C>T | - | IntronicSNV | - | 1/22 | 1 |
12-12413039-G-C | c.55+6576C>G | - | IntronicSNV | - | 1/22 | 1 |
12-12413815-A-G | c.55+5800T>C | - | IntronicSNV | - | 1/22 | 1 |
12-12414150-C-A | c.55+5465G>T | - | IntronicSNV | - | 1/22 | 1 |
12-12414150-C-G | c.55+5465G>C | - | IntronicSNV | - | 1/22 | 1 |
12-12414150-C-T | c.55+5465G>A | - | IntronicSNV | - | 1/22 | 1 |
12-12415020-T-C | c.55+4595A>G | - | IntronicSNV | - | 1/22 | 1 |
12-12417944-G-A | c.55+1671C>T | - | IntronicSNV | - | 1/22 | 1 |
12-12419525-T-C | c.55+90A>G | - | IntronicSNV | - | 1/22 | 1 |
12-12419635-CT-GC | c.34_35delinsGC | p.Ser12Ala | Missense | 1/23 | - | 6 |
12-12419636-T-A | c.34A>T | p.Ser12Cys | Missense | 1/23 | - | 4 |
12-12419662-G-A | c.8C>T | p.Ala3Val | Missense | 1/23 | - | 2 |
12-12419667-C-T | c.3G>A | p.Met1? | Missense | 1/23 | - | 1 |
12-12419719-G-A | c.-50C>T | - | 5-UTRSNV | 1/23 | - | 1 |
12-12419719-G-T | c.-50C>A | - | 5-UTRSNV | 1/23 | - | 1 |