SI sucrase-isomaltase

Canonical transcript: NM_001041

1234 unique variant annotations were identified in 1554 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
3-164700042-T-C c.5404A>G p.Thr1802Ala Missense 47/48 - 1
3-164700098-TT-GC c.5347_5348delinsGC p.Asn1783Ala Missense 47/48 - 1
3-164700167-C-A c.5279G>T p.Gly1760Val Missense 47/48 - 1
3-164700167-C-T c.5279G>A p.Gly1760Asp Missense 47/48 - 1
3-164700190-T-C c.5256A>G p.Leu1752Leu Synonymous 47/48 - 1
3-164700803-A-C c.5234T>G p.Phe1745Cys Missense 46/48 - 5
3-164705006-TT-GC c.5116_5117delinsGC p.Lys1706Ala Missense 45/48 - 2
3-164709144-T-C c.5105A>G p.Tyr1702Cys Missense 44/48 - 1
3-164709250-C-G c.4999G>C p.Val1667Leu Missense 44/48 - 1
3-164710154-A-C c.4873T>G p.Phe1625Val Missense 42/48 - 1
3-164712069-G-A c.4817C>T p.Thr1606Ile Missense 41/48 - 1
3-164712099-T-C c.4787A>G p.Gln1596Arg Missense 41/48 - 1
3-164712108-AA-GC c.4777_4778delinsGC p.Phe1593Ala Missense 41/48 - 1
3-164712159-G-C c.4727C>G p.Ala1576Gly Missense 41/48 - 1
3-164712169-C-T c.4717G>A p.Glu1573Lys Missense 41/48 - 1
3-164714334-C-T c.4681G>A p.Ala1561Thr Missense 40/48 - 1
3-164714384-C-T c.4631G>A p.Arg1544His Missense 40/48 - 1
3-164714385-G-A c.4630C>T p.Arg1544Cys Missense 40/48 - 1
3-164714414-A-C c.4601T>G p.Phe1534Cys Missense 40/48 - 2
3-164714414-A-G c.4601T>C p.Phe1534Ser Missense 40/48 - 1
3-164714413-G-T c.4602C>A p.Phe1534Leu Missense 40/48 - 1
3-164714413-G-C c.4602C>G p.Phe1534Leu Missense 40/48 - 1
3-164714415-A-G c.4600T>C p.Phe1534Leu Missense 40/48 - 1
3-164714423-C-T c.4592G>A p.Cys1531Tyr Missense 40/48 - 1
3-164714532-C-T c.4569G>A p.Met1523Ile Missense 39/48 - 1
3-164716368-G-C c.4500C>G p.Asp1500Glu Missense 38/48 - 1
3-164716368-G-T c.4500C>A p.Asp1500Glu Missense 38/48 - 1
3-164716369-TC-AG c.4498_4499delinsCT p.Asp1500Leu Missense 38/48 - 1
3-164716370-C-A c.4498G>T p.Asp1500Tyr Missense 38/48 - 1
3-164716370-C-T c.4498G>A p.Asp1500Asn Missense 38/48 - 1
3-164716371-TCC-TGT c.4495_4496delinsAC p.Gly1499Thr Missense 38/48 - 1
3-164716395-TCC-ATG c.4471_4473delinsCAT p.Gly1491His Missense 38/48 - 1
3-164716395-TCC-TGT c.4471_4472delinsAC p.Gly1491Thr Missense 38/48 - 2
3-164716396-C-G c.4472G>C p.Gly1491Ala Missense 38/48 - 1
3-164716396-CC-AT c.4471_4472delinsAT p.Gly1491Ile Missense 38/48 - 1
3-164716417-C-T c.4451G>A p.Arg1484His Missense 38/48 - 1
3-164716417-CG-GC c.4450_4451delinsGC p.Arg1484Ala Missense 38/48 - 1
3-164724626-A-C c.4384T>G p.Ser1462Ala Missense 37/48 - 2
3-164724689-C-T c.4321G>A p.Glu1441Lys Missense 37/48 - 1
3-164725715-A-C c.4251T>G p.Tyr1417* Nonsense 36/48 - 1
3-164725726-C-T c.4240G>A p.Glu1414Lys Missense 36/48 - 3
3-164725784-A-T c.4182T>A p.Asp1394Glu Missense 36/48 - 1
3-164725784-A-C c.4182T>G p.Asp1394Glu Missense 36/48 - 1
3-164727113-A-C c.4133T>G p.Ile1378Ser Missense 35/48 - 1
3-164727147-T-C c.4099A>G p.Arg1367Gly Missense 35/48 - 2
3-164730776-C-T c.4054G>A p.Ala1352Thr Missense 34/48 - 1
3-164732915-G-C c.3995C>G p.Ala1332Gly Missense 33/48 - 1
3-164732969-C-G c.3941G>C p.Gly1314Ala Missense 33/48 - 5
3-164732972-CT-GC c.3937_3938delinsGC p.Arg1313Ala Missense 33/48 - 1
3-164733016-T-TAT c.3894_3895insTA p.Ala1299* Nonsense 33/48 - 1
3-164733020-T-C c.3890A>G p.Asp1297Gly Missense 33/48 - 1
3-164733021-C-T c.3889G>A p.Asp1297Asn Missense 33/48 - 1
3-164733768-C-G c.3860G>C p.Gly1287Ala Missense 32/48 - 1
3-164733776-TTT-TGT c.3851delinsC p.Lys1284Thr Missense 32/48 - 1
3-164733843-T-A c.3785A>T p.Tyr1262Phe Missense 32/48 - 1
3-164733850-T-C c.3778A>G p.Ile1260Val Missense 32/48 - 1
3-164733853-C-T c.3775G>A p.Asp1259Asn Missense 32/48 - 1
3-164733862-TG-T c.3766del p.Gln1256Serfs*12 Frameshift 32/48 - 1
3-164733868-C-A c.3760G>T p.Asp1254Tyr Missense 32/48 - 1
3-164735409-C-T c.3686G>A p.Cys1229Tyr Missense 31/48 - 1
3-164735433-T-A c.3662A>T p.Tyr1221Phe Missense 31/48 - 1
3-164735584-G-A c.3598C>T p.Pro1200Ser Missense 30/48 - 1
3-164735623-T-C c.3559A>G p.Thr1187Ala Missense 30/48 - 1
3-164735637-G-C c.3545C>G p.Ala1182Gly Missense 30/48 - 1
3-164735767-T-C c.3511A>G p.Asn1171Asp Missense 29/48 - 1
3-164735806-C-G c.3472G>C p.Glu1158Gln Missense 29/48 - 1
3-164735823-T-A c.3455A>T p.Tyr1152Phe Missense 29/48 - 1
3-164735853-TA-GC c.3424_3425delinsGC p.Tyr1142Ala Missense 29/48 - 1
3-164737394-G-A c.3419C>T p.Pro1140Leu Missense 28/48 - 1
3-164737410-T-C c.3403A>G p.Thr1135Ala Missense 28/48 - 1
3-164737443-G-A c.3370C>T p.Arg1124* Nonsense 28/48 - 4
3-164737443-G-C c.3370C>G p.Arg1124Gly Missense 28/48 - 1
3-164737445-TT-GC c.3367_3368delinsGC p.Lys1123Ala Missense 28/48 - 1
3-164737451-G-T c.3362C>A p.Ala1121Glu Missense 28/48 - 1
3-164737452-GC-G c.3361del p.Ala1121Hisfs*6 Frameshift 28/48 - 1
3-164737520-T-G c.3293A>C p.Gln1098Pro Missense 28/48 - 3
3-164737524-C-A c.3289G>T p.Asp1097Tyr Missense 28/48 - 1
3-164739034-TCT-TGG c.3235_3236delinsCC p.Arg1079Pro Missense 27/48 - 1
3-164739038-CG-TA c.3232_3233delinsTA p.Arg1078* Nonsense 27/48 - 1
3-164739053-C-T c.3218G>A p.Gly1073Asp Missense 27/48 - 6
3-164739111-G-C c.3160C>G p.Pro1054Ala Missense 27/48 - 1
3-164741396-C-T c.3061G>A p.Glu1021Lys Missense 26/48 - 1
3-164741428-AA-CC c.3028_3029delinsGG p.Leu1010Gly Missense 26/48 - 1
3-164741456-G-T c.3001C>A p.Leu1001Ile Missense 26/48 - 1
3-164741507-A-C c.2950T>G p.Ser984Ala Missense 26/48 - 1
3-164741534-A-G c.2923T>C p.Tyr975His Missense 26/48 - 4
3-164741552-A-G c.2905T>C p.Ser969Pro Missense 26/48 - 1
3-164748529-A-C c.2863T>G p.Cys955Gly Missense 25/48 - 1
3-164748543-G-C c.2849C>G p.Ala950Gly Missense 25/48 - 1
3-164748593-TTG-TGG c.2798delinsC p.Gln933Pro Missense 25/48 - 1
3-164748598-T-C c.2794A>G p.Asn932Asp Missense 25/48 - 1
3-164748599-C-T c.2793G>A p.Trp931* Nonsense 25/48 - 1
3-164748601-A-T c.2791T>A p.Trp931Arg Missense 25/48 - 1
3-164748603-T-C c.2789A>G p.Gln930Arg Missense 25/48 - 1
3-164750321-C-T c.2725G>A p.Ala909Thr Missense 24/48 - 1
3-164750347-TT-GC c.2698_2699delinsGC p.Asn900Ala Missense 24/48 - 1
3-164750370-CAC-ATC c.2675_2676delinsAT p.Val892Asp Missense 24/48 - 1
3-164750380-TTCT-T c.2666_2668del p.Glu889del InFrameDeletion 24/48 - 1
3-164750397-CAA-GAC c.2647_2649delinsGTC p.Leu883Val Missense 24/48 - 1
3-164750405-G-T c.2641C>A p.Leu881Ile Missense 24/48 - 1
3-164750417-T-C c.2629A>G p.Thr877Ala Missense 24/48 - 6
3-164750422-A-G c.2624T>C p.Phe875Ser Missense 24/48 - 1
3-164750426-C-T c.2620G>A p.Ala874Thr Missense 24/48 - 1
3-164750432-T-C c.2614A>G p.Thr872Ala Missense 24/48 - 1
3-164750437-C-G c.2609G>C p.Gly870Ala Missense 24/48 - 1
3-164750447-A-G c.2599T>C p.Tyr867His Missense 24/48 - 1
3-164750473-AA-AG c.2572delinsC p.Leu858Leu Missense 24/48 - 3
3-164750477-T-C c.2569A>G p.Thr857Ala Missense 24/48 - 1
3-164750477-T-G c.2569A>C p.Thr857Pro Missense 24/48 - 1
3-164751223-T-C c.2525A>G p.Gln842Arg Missense 23/48 - 1
3-164751226-A-ACT c.2521_2522insAG p.Ile841Lysfs*19 Frameshift 23/48 - 1
3-164751231-A-T c.2517T>A p.Asp839Glu Missense 23/48 - 1
3-164751231-A-C c.2517T>G p.Asp839Glu Missense 23/48 - 1
3-164754177-C-A c.2515G>T p.Asp839Tyr Missense 22/48 - 1
3-164754217-TGT-GAC c.2473_2475delinsGTC p.Thr825Val Missense 22/48 - 1
3-164754230-C-G c.2462G>C p.Gly821Ala Missense 22/48 - 1
3-164754251-TAGAGGATTCTTAC-T c.2429_2441del p.Arg810Glnfs*4 Frameshift 22/48 - 1
3-164755730-TA-GC c.2383_2384delinsGC p.Tyr795Ala Missense 21/48 - 1
3-164755730-T-A c.2384A>T p.Tyr795Phe Missense 21/48 - 1
3-164755751-C-G c.2363G>C p.Gly788Ala Missense 21/48 - 1
3-164755790-TT-GC c.2323_2324delinsGC p.Lys775Ala Missense 21/48 - 2
3-164755792-CCT-TGT c.2321_2322delinsCA p.Arg774Thr Missense 21/48 - 1
3-164755794-T-C c.2320A>G p.Arg774Gly Missense 21/48 - 4
3-164755796-C-T c.2318G>A p.Trp773* Nonsense 21/48 - 1
3-164755795-C-T c.2319G>A p.Trp773* Nonsense 21/48 - 1
3-164755796-CCATGGCCTTTTTGCACCCTAATAATTGGAAGATTAAAAACATTCTTAATATTATTGAAG-C c.2302-42_2318del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 21/48 20/47 1
3-164755797-A-T c.2317T>A p.Trp773Arg Missense 21/48 - 1
3-164755797-A-G c.2317T>C p.Trp773Arg Missense 21/48 - 1
3-164755808-G-A c.2306C>T p.Ala769Val Missense 21/48 - 1
3-164756897-AT-GC c.2269_2270delinsGC p.Ile757Ala Missense 20/48 - 1
3-164756909-A-G c.2258T>C p.Val753Ala Missense 20/48 - 1
3-164756916-C-T c.2251G>A p.Asp751Asn Missense 20/48 - 1
3-164756918-G-A c.2249C>T p.Ala750Val Missense 20/48 - 1
3-164757681-TAG-ATG c.2237_2238delinsAT p.Leu746His Missense 19/48 - 1
3-164757697-A-G c.2222T>C p.Leu741Pro Missense 19/48 - 1
3-164757728-C-T c.2191G>A p.Asp731Asn Missense 19/48 - 1
3-164757731-C-G c.2188G>C p.Glu730Gln Missense 19/48 - 1
3-164757739-CT-GC c.2179_2180delinsGC p.Ser727Ala Missense 19/48 - 1
3-164757754-T-A c.2165A>T p.Tyr722Phe Missense 19/48 - 1
3-164758737-A-T c.2150T>A p.Val717Asp Missense 18/48 - 1
3-164758738-C-T c.2149G>A p.Val717Ile Missense 18/48 - 3
3-164758738-C-A c.2149G>T p.Val717Phe Missense 18/48 - 1
3-164758748-TAC-TGT c.2137_2138delinsAC p.Val713Thr Missense 18/48 - 1
3-164758749-A-G c.2138T>C p.Val713Ala Missense 18/48 - 2
3-164758762-A-T c.2125T>A p.Phe709Ile Missense 18/48 - 1
3-164758773-TT-GC c.2113_2114delinsGC p.Lys705Ala Missense 18/48 - 1
3-164758773-T-C c.2114A>G p.Lys705Arg Missense 18/48 - 1
3-164758782-AG-GC c.2104_2105delinsGC p.Leu702Ala Missense 18/48 - 2
3-164758790-GAG-ATG c.2096_2097delinsAT p.Leu699His Missense 18/48 - 2
3-164758798-G-A c.2089C>T p.Pro697Ser Missense 18/48 - 1
3-164758807-T-C c.2080A>G p.Thr694Ala Missense 18/48 - 1
3-164758807-T-G c.2080A>C p.Thr694Pro Missense 18/48 - 1
3-164758809-T-A c.2078A>T p.Tyr693Phe Missense 18/48 - 1
3-164758822-A-T c.2065T>A p.Leu689Ile Missense 18/48 - 2
3-164758824-TA-GC c.2062_2063delinsGC p.Tyr688Ala Missense 18/48 - 1
3-164758827-CT-C c.2060del p.Gln687Argfs*3 Frameshift 18/48 - 1
3-164758839-T-C c.2048A>G p.Lys683Arg Missense 18/48 - 1
3-164758852-A-C c.2035T>G p.Ser679Ala Missense 18/48 - 1
3-164758869-GC-AT c.2017_2018delinsAT p.Ala673Ile Missense 18/48 - 1
3-164758873-G-A c.2014C>T p.Pro672Ser Missense 18/48 - 1
3-164758878-T-C c.2009A>G p.Gln670Arg Missense 18/48 - 1
3-164760848-T-G c.2003A>C p.Glu668Ala Missense 17/48 - 1
3-164760863-TT-TG c.1987delinsC p.Asn663His Missense 17/48 - 1
3-164760866-TG-GC c.1984_1985delinsGC p.His662Ala Missense 17/48 - 1
3-164760872-CT-GC c.1978_1979delinsGC p.Arg660Ala Missense 17/48 - 1
3-164760872-CT-GA c.1978_1979delinsTC p.Arg660Ser Missense 17/48 - 1
3-164760873-T-A c.1978A>T p.Arg660* Nonsense 17/48 - 1
3-164760876-A-C c.1975T>G p.Ser659Ala Missense 17/48 - 2
3-164760890-GC-CA c.1960_1961delinsTG p.Ala654* Missense 17/48 - 1
3-164760891-C-T c.1960G>A p.Ala654Thr Missense 17/48 - 2
3-164760893-C-T c.1958G>A p.Gly653Glu Missense 17/48 - 2
3-164760893-C-A c.1958G>T p.Gly653Val Missense 17/48 - 1
3-164760903-T-C c.1948A>G p.Met650Val Missense 17/48 - 1
3-164760909-CTTCTGC-C c.1938_1943del p.Cys646_Arg648delins* MultiAAMissense 17/48 - 1
3-164760924-C-T c.1927G>A p.Glu643Lys Missense 17/48 - 1
3-164760930-T-C c.1921A>G p.Thr641Ala Missense 17/48 - 1
3-164760932-T-C c.1919A>G p.Glu640Gly Missense 17/48 - 1
3-164760935-GC-TG c.1915_1916delinsCA p.Ala639His Missense 17/48 - 2
3-164760938-A-G c.1913T>C p.Val638Ala Missense 17/48 - 1
3-164760941-AA-GC c.1909_1910delinsGC p.Phe637Ala Missense 17/48 - 1
3-164760948-A-G c.1903T>C p.Cys635Arg Missense 17/48 - 1
3-164760950-AT-GC c.1900_1901delinsGC p.Ile634Ala Missense 17/48 - 1
3-164760953-T-C c.1898A>G p.Asp633Gly Missense 17/48 - 1
3-164760960-C-T c.1891G>A p.Gly631Arg Missense 17/48 - 1
3-164764629-C-G c.1887G>C p.Leu629Phe Missense 16/48 - 1
3-164764630-AA-AG c.1885delinsC p.Leu629Leu Missense 16/48 - 1
3-164764639-C-G c.1877G>C p.Gly626Ala Missense 16/48 - 1
3-164764657-A-G c.1859T>C p.Leu620Pro Missense 16/48 - 1
3-164764657-A-T c.1859T>A p.Leu620Gln Missense 16/48 - 1
3-164764675-CA-GC c.1840_1841delinsGC p.Trp614Ala Missense 16/48 - 1
3-164764678-TC-AG c.1837_1838delinsCT p.Glu613Leu Missense 16/48 - 2
3-164764684-T-C c.1832A>G p.Gln611Arg Missense 16/48 - 1
3-164764684-TG-GC c.1831_1832delinsGC p.Gln611Ala Missense 16/48 - 1
3-164764687-T-G c.1829A>C p.Glu610Ala Missense 16/48 - 1
3-164764695-A-AA c.1822dup p.Ser608Phefs*33 Frameshift 16/48 - 1
3-164764696-GC-TG c.1819_1820delinsCA p.Ala607His Missense 16/48 - 1
3-164764697-C-T c.1819G>A p.Ala607Thr Missense 16/48 - 1
3-164764704-G-C c.1812C>G p.Asp604Glu Missense 16/48 - 1
3-164764704-G-T c.1812C>A p.Asp604Glu Missense 16/48 - 1
3-164764705-TC-AG c.1810_1811delinsCT p.Asp604Leu Missense 16/48 - 1
3-164764706-C-T c.1810G>A p.Asp604Asn Missense 16/48 - 1
3-164764706-C-A c.1810G>T p.Asp604Tyr Missense 16/48 - 1
3-164764717-T-A c.1799A>T p.His600Leu Missense 16/48 - 4
3-164764720-G-C c.1796C>G p.Ala599Gly Missense 16/48 - 1
3-164764728-TCT-TGT c.1787delinsC p.Arg596Thr Missense 16/48 - 1
3-164764733-C-T c.1783G>A p.Gly595Arg Missense 16/48 - 1
3-164764733-C-G c.1783G>C p.Gly595Arg Missense 16/48 - 1
3-164764736-A-G c.1780T>C p.Ser594Pro Missense 16/48 - 1
3-164764742-C-T c.1774G>A p.Ala592Thr Missense 16/48 - 1
3-164764751-A-C c.1765T>G p.Ser589Ala Missense 16/48 - 1
3-164764768-CT-GC c.1747_1748delinsGC p.Ser583Ala Missense 16/48 - 1
3-164764771-CT-GC c.1744_1745delinsGC p.Arg582Ala Missense 16/48 - 1
3-164764774-TT-GC c.1741_1742delinsGC p.Lys581Ala Missense 16/48 - 2
3-164764784-A-C c.1732T>G p.Phe578Val Missense 16/48 - 1
3-164764786-A-C c.1730T>G p.Val577Gly Missense 16/48 - 6
3-164764786-A-G c.1730T>C p.Val577Ala Missense 16/48 - 1
3-164764789-TT-GC c.1726_1727delinsGC p.Lys576Ala Missense 16/48 - 1
3-164764795-A-G c.1721T>C p.Val574Ala Missense 16/48 - 2
3-164764800-T-A c.1716A>T p.Gln572His Missense 16/48 - 1
3-164764800-T-G c.1716A>C p.Gln572His Missense 16/48 - 1
3-164766918-T-G c.1712A>C p.Glu571Ala Missense 15/48 - 2
3-164766918-TC-AG c.1711_1712delinsCT p.Glu571Leu Missense 15/48 - 1
3-164766933-AT-GC c.1696_1697delinsGC p.Met566Ala Missense 15/48 - 1
3-164766942-C-G c.1688G>C p.Gly563Ala Missense 15/48 - 1
3-164766951-CT-GC c.1678_1679delinsGC p.Ser560Ala Missense 15/48 - 1
3-164766963-TA-GC c.1666_1667delinsGC p.Tyr556Ala Missense 15/48 - 1
3-164766969-TT-GC c.1660_1661delinsGC p.Lys554Ala Missense 15/48 - 1
3-164766972-C-G c.1658G>C p.Gly553Ala Missense 15/48 - 2
3-164766978-TT-GC c.1651_1652delinsGC p.Asn551Ala Missense 15/48 - 1
3-164766984-AC-CC c.1646delinsG p.Val549Gly Missense 15/48 - 1
3-164766984-A-T c.1646T>A p.Val549Glu Missense 15/48 - 1
3-164766986-A-C c.1644T>G p.Ala548Ala Synonymous 15/48 - 1
3-164766986-A-T c.1644T>A p.Ala548Ala Synonymous 15/48 - 1
3-164766986-A-G c.1644T>C p.Ala548Ala Synonymous 15/48 - 1
3-164766988-C-T c.1642G>A p.Ala548Thr Missense 15/48 - 1
3-164766996-CA-GT c.1633_1634delinsAC p.Cys545Thr Missense 15/48 - 1
3-164767023-T-A c.1607A>T p.Asp536Val Missense 15/48 - 1
3-164767029-AT-GA c.1600_1601delinsTC p.Ile534Ser Missense 15/48 - 1
3-164767032-T-C c.1598A>G p.Asp533Gly Missense 15/48 - 1
3-164767587-A-G c.1589T>C p.Phe530Ser Missense 14/48 - 2
3-164767586-A-T c.1590T>A p.Phe530Leu Missense 14/48 - 1
3-164767586-A-C c.1590T>G p.Phe530Leu Missense 14/48 - 1
3-164767588-A-G c.1588T>C p.Phe530Leu Missense 14/48 - 1
3-164767590-GG-GA c.1585delinsT p.Pro529Ser Missense 14/48 - 1
3-164767596-T-A c.1580A>T p.Tyr527Phe Missense 14/48 - 7
3-164767610-TAC-TGT c.1564_1565delinsAC p.Val522Thr Missense 14/48 - 1
3-164767616-ACA-AAG c.1558_1559delinsCT p.Cys520Leu Missense 14/48 - 3
3-164767617-CA-AC c.1558_1559delinsGT p.Cys520Val Missense 14/48 - 1
3-164767627-T-C c.1549A>G p.Thr517Ala Missense 14/48 - 2
3-164767628-TGA-CAT c.1546_1548delinsATG p.Ser516Met Missense 14/48 - 1
3-164767648-A-C c.1528T>G p.Ser510Ala Missense 14/48 - 2
3-164767652-TTC-TGT c.1522_1523delinsAC p.Glu508Thr Missense 14/48 - 1
3-164767654-C-T c.1522G>A p.Glu508Lys Missense 14/48 - 1
3-164767656-TT-GC c.1519_1520delinsGC p.Asn507Ala Missense 14/48 - 1
3-164767661-G-C c.1515C>G p.Asp505Glu Missense 14/48 - 1
3-164767661-G-T c.1515C>A p.Asp505Glu Missense 14/48 - 1
3-164767662-T-A c.1514A>T p.Asp505Val Missense 14/48 - 2
3-164772995-T-C c.1499A>G p.Asp500Gly Missense 13/48 - 1
3-164772995-T-A c.1499A>T p.Asp500Val Missense 13/48 - 1
3-164772995-TC-CG c.1498_1499delinsCG p.Asp500Arg Missense 13/48 - 1
3-164772996-C-T c.1498G>A p.Asp500Asn Missense 13/48 - 1
3-164773000-TTG-GAC c.1492_1494delinsGTC p.Gln498Val Missense 13/48 - 1
3-164773011-G-C c.1483C>G p.Gln495Glu Missense 13/48 - 1
3-164773013-TG-GT c.1480_1481delinsAC p.His494Thr Missense 13/48 - 1
3-164773029-C-G c.1465G>C p.Glu489Gln Missense 13/48 - 1
3-164773035-C-T c.1459G>A p.Ala487Thr Missense 13/48 - 1
3-164773056-G-A c.1438C>T p.Pro480Ser Missense 13/48 - 2
3-164773061-GT-TG c.1432_1433delinsCA p.Thr478His Missense 13/48 - 1
3-164773071-G-C c.1423C>G p.Pro475Ala Missense 13/48 - 1
3-164773081-T-A c.1413A>T p.Leu471Phe Missense 13/48 - 1
3-164773081-T-G c.1413A>C p.Leu471Phe Missense 13/48 - 1
3-164773089-G-C c.1405C>G p.Pro469Ala Missense 13/48 - 1
3-164776752-T-G c.1397A>C p.Glu466Ala Missense 12/48 - 2
3-164776753-C-T c.1396G>A p.Glu466Lys Missense 12/48 - 2
3-164776758-AT-GC c.1390_1391delinsGC p.Ile464Ala Missense 12/48 - 1
3-164776759-T-C c.1390A>G p.Ile464Val Missense 12/48 - 1
3-164776761-A-C c.1388T>G p.Ile463Ser Missense 12/48 - 1
3-164776765-G-A c.1384C>T p.Pro462Ser Missense 12/48 - 1
3-164776767-G-A c.1382C>T p.Thr461Ile Missense 12/48 - 2
3-164776768-T-G c.1381A>C p.Thr461Pro Missense 12/48 - 1
3-164776770-CT-CC c.1378delinsG p.Ser460Gly Missense 12/48 - 1
3-164776770-CT-GC c.1378_1379delinsGC p.Ser460Ala Missense 12/48 - 1
3-164776776-T-G c.1373A>C p.Asp458Ala Missense 12/48 - 1
3-164776785-TT-CT c.1364delinsG p.Asn455Ser Missense 12/48 - 1
3-164776791-C-T c.1358G>A p.Trp453* Nonsense 12/48 - 1
3-164776791-CA-GC c.1357_1358delinsGC p.Trp453Ala Missense 12/48 - 2
3-164776790-C-T c.1359G>A p.Trp453* Nonsense 12/48 - 1
3-164776798-G-C c.1351C>G p.His451Asp Missense 12/48 - 1
3-164776802-TGT-TAT c.1346delinsT p.Thr449Ile Missense 12/48 - 1
3-164776804-T-A c.1345A>T p.Thr449Ser Missense 12/48 - 1
3-164776804-T-C c.1345A>G p.Thr449Ala Missense 12/48 - 1
3-164776805-GTT-GAG c.1342_1343delinsCT p.Asn448Leu Missense 12/48 - 1
3-164776812-CT-GC c.1336_1337delinsGC p.Arg446Ala Missense 12/48 - 1
3-164776818-T-A c.1331A>T p.Tyr444Phe Missense 12/48 - 2
3-164776818-TA-GC c.1330_1331delinsGC p.Tyr444Ala Missense 12/48 - 2
3-164776822-T-G c.1327A>C p.Thr443Pro Missense 12/48 - 1
3-164776822-T-C c.1327A>G p.Thr443Ala Missense 12/48 - 1
3-164776833-GT-GG c.1315delinsC p.Thr439Pro Missense 12/48 - 1
3-164776834-T-A c.1315A>T p.Thr439Ser Missense 12/48 - 1
3-164776834-T-C c.1315A>G p.Thr439Ala Missense 12/48 - 3
3-164776836-C-T c.1313G>A p.Gly438Glu Missense 12/48 - 2
3-164776841-G-A c.1308C>T p.Ala436Ala Synonymous 12/48 - 1
3-164776845-C-T c.1304G>A p.Arg435His Missense 12/48 - 1
3-164776845-CG-GC c.1303_1304delinsGC p.Arg435Ala Missense 12/48 - 1
3-164776848-CG-GC c.1300_1301delinsGC p.Arg434Ala Missense 12/48 - 2
3-164776852-C-G c.1297G>C p.Gly433Arg Missense 12/48 - 1
3-164776856-GGA-GAG c.1291_1292delinsCT p.Ser431Leu Missense 12/48 - 4
3-164776857-GA-GG c.1291delinsC p.Ser431Pro Missense 12/48 - 1
3-164776858-A-C c.1291T>G p.Ser431Ala Missense 12/48 - 1
3-164776868-GTC-AAG c.1279_1281delinsCTT p.Asp427Leu Missense 12/48 - 1
3-164776869-T-G c.1280A>C p.Asp427Ala Missense 12/48 - 1
3-164776870-C-T c.1279G>A p.Asp427Asn Missense 12/48 - 1
3-164776959-GAT-TAA c.1273_1275delinsTTA p.Ile425Leu Nonsense 11/48 - 1
3-164776962-G-C c.1272C>G p.Ile424Met Missense 11/48 - 1
3-164776963-AT-GG c.1270_1271delinsCC p.Ile424Pro Missense 11/48 - 1
3-164776963-GA-G c.1271del p.Ile424Thrfs*9 Frameshift 11/48 - 1
3-164776964-T-A c.1270A>T p.Ile424Phe Missense 11/48 - 1
3-164776967-C-A c.1267G>T p.Val423Phe Missense 11/48 - 1
3-164776972-T-C c.1262A>G p.Lys421Arg Missense 11/48 - 1
3-164776977-TCC-AAC c.1256_1257delinsTT p.Gly419Val Missense 11/48 - 1
3-164776984-T-G c.1250A>C p.Asp417Ala Missense 11/48 - 2
3-164776984-TC-TT c.1249delinsA p.Asp417Asn Missense 11/48 - 1
3-164776987-TG-GC c.1246_1247delinsGC p.His416Ala Missense 11/48 - 2
3-164776989-C-A c.1245G>T p.Leu415Phe Missense 11/48 - 1
3-164776989-C-G c.1245G>C p.Leu415Phe Missense 11/48 - 1
3-164776993-T-G c.1241A>C p.Asp414Ala Missense 11/48 - 3
3-164776997-G-A c.1237C>T p.Gln413* Nonsense 11/48 - 1
3-164777000-C-A c.1234G>T p.Val412Leu Missense 11/48 - 1
3-164777000-C-G c.1234G>C p.Val412Leu Missense 11/48 - 1
3-164777010-GAG-TGG c.1223_1224delinsCA p.Leu408Pro Missense 11/48 - 1
3-164777011-A-AA c.1223dup p.Gln410Serfs*8 Frameshift 11/48 - 1
3-164777012-G-A c.1222C>T p.Leu408Phe Missense 11/48 - 1
3-164777015-C-T c.1219G>A p.Gly407Arg Missense 11/48 - 3
3-164777015-C-G c.1219G>C p.Gly407Arg Missense 11/48 - 3
3-164777019-A-T c.1215T>A p.Phe405Leu Missense 11/48 - 1
3-164777019-A-C c.1215T>G p.Phe405Leu Missense 11/48 - 1
3-164777021-A-G c.1213T>C p.Phe405Leu Missense 11/48 - 1
3-164777022-CGC-TGT c.1210_1212delinsACA p.Ala404Thr Missense 11/48 - 1
3-164777023-GC-CT c.1210_1211delinsAG p.Ala404Arg Missense 11/48 - 1
3-164777023-G-C c.1211C>G p.Ala404Gly Missense 11/48 - 1
3-164777024-C-T c.1210G>A p.Ala404Thr Missense 11/48 - 1
3-164777026-A-C c.1208T>G p.Val403Gly Missense 11/48 - 1
3-164777032-T-G c.1202A>C p.Asp401Ala Missense 11/48 - 1
3-164777032-T-A c.1202A>T p.Asp401Val Missense 11/48 - 1
3-164777038-GT-TG c.1195_1196delinsCA p.Thr399His Missense 11/48 - 1
3-164777047-T-C c.1187A>G p.Lys396Arg Missense 11/48 - 2
3-164777065-T-G c.1169A>C p.Asp390Ala Missense 11/48 - 2
3-164777069-T-C c.1165A>G p.Ile389Val Missense 11/48 - 1
3-164777079-CTG-TGT c.1153_1155delinsACA p.Gln385Thr Missense 11/48 - 1
3-164777086-T-G c.1148A>C p.Asp383Ala Missense 11/48 - 1
3-164777691-AA-GC c.1144_1145delinsGC p.Phe382Ala Missense 10/48 - 1
3-164777703-GC-TG c.1132_1133delinsCA p.Ala378His Missense 10/48 - 1
3-164777706-T-G c.1130A>C p.Glu377Ala Missense 10/48 - 1
3-164777707-C-G c.1129G>C p.Glu377Gln Missense 10/48 - 1
3-164777712-TT-GC c.1123_1124delinsGC p.Asn375Ala Missense 10/48 - 1
3-164777724-A-G c.1112T>C p.Val371Ala Missense 10/48 - 1
3-164777725-C-T c.1111G>A p.Val371Met Missense 10/48 - 1
3-164777727-T-G c.1109A>C p.Glu370Ala Missense 10/48 - 1
3-164777730-T-C c.1106A>G p.Lys369Arg Missense 10/48 - 1
3-164777730-TT-GC c.1105_1106delinsGC p.Lys369Ala Missense 10/48 - 1
3-164777733-AC-TG c.1102_1103delinsCA p.Val368Gln Missense 10/48 - 1
3-164777733-A-G c.1103T>C p.Val368Ala Missense 10/48 - 1
3-164777736-AC-AA c.1099delinsT p.Val367Leu Missense 10/48 - 1
3-164777738-A-C c.1098T>G p.Asp366Glu Missense 10/48 - 1
3-164777738-A-T c.1098T>A p.Asp366Glu Missense 10/48 - 1
3-164777744-TGA-GAC c.1090_1092delinsGTC p.Ser364Val Missense 10/48 - 1
3-164777746-A-C c.1090T>G p.Ser364Ala Missense 10/48 - 1
3-164777747-CT-GC c.1088_1089delinsGC p.Lys363Ser Missense 10/48 - 1
3-164777756-CC-TT c.1079_1080delinsAA p.Trp360* Missense 10/48 - 1
3-164777759-GCG-GAG c.1076delinsT p.Arg359Leu Missense 10/48 - 2
3-164777760-CG-GC c.1075_1076delinsGC p.Arg359Ala Missense 10/48 - 2
3-164777762-ACT-GAG c.1072_1074delinsCTC p.Ser358Leu Missense 10/48 - 2
3-164777762-ACT-TGG c.1072_1074delinsCCA p.Ser358Pro Missense 10/48 - 1
3-164777775-C-T c.1061G>A p.Gly354Glu Missense 10/48 - 3
3-164777778-AG-GA c.1057_1058delinsTC p.Leu353Ser Missense 10/48 - 2
3-164777778-AG-GC c.1057_1058delinsGC p.Leu353Ala Missense 10/48 - 1
3-164777778-AG-TG c.1058delinsA p.Leu353His Missense 10/48 - 1
3-164777790-GC-AG c.1045_1046delinsCT p.Ala349Leu Missense 10/48 - 1
3-164777793-G-A c.1043C>T p.Pro348Leu Missense 10/48 - 1
3-164777795-CAT-TGT c.1040_1041delinsCA p.Met347Thr Missense 10/48 - 1
3-164777799-GC-AT c.1036_1037delinsAT p.Ala346Ile Missense 10/48 - 1
3-164777804-TAG-TGT c.1030_1031delinsAC p.Leu344Thr Missense 10/48 - 1
3-164777805-AG-GA c.1030_1031delinsTC p.Leu344Ser Missense 10/48 - 1
3-164777808-C-G c.1028G>C p.Gly343Ala Missense 10/48 - 1
3-164777812-C-T c.1024G>A p.Val342Ile Missense 10/48 - 1
3-164777814-A-G c.1022T>C p.Leu341Pro Missense 10/48 - 2
3-164780166-TA-GC c.1012_1013delinsGC p.Tyr338Ala Missense 9/48 - 3
3-164780169-TG-GC c.1009_1010delinsGC p.Gln337Ala Missense 9/48 - 1
3-164780174-AA-AG c.1004delinsC p.Val335Ala Missense 9/48 - 1
3-164780184-T-G c.995A>C p.Glu332Ala Missense 9/48 - 1
3-164780185-C-G c.994G>C p.Glu332Gln Missense 9/48 - 1
3-164780186-TGG-GAC c.991_993delinsGTC p.Pro331Val Missense 9/48 - 1
3-164780188-G-A c.991C>T p.Pro331Ser Missense 9/48 - 4
3-164780189-TGT-TAT c.989delinsT p.Thr330Ile Missense 9/48 - 1
3-164780190-GT-CT c.989delinsG p.Thr330Arg Missense 9/48 - 1
3-164780191-T-C c.988A>G p.Thr330Ala Missense 9/48 - 1
3-164780194-C-T c.985G>A p.Asp329Asn Missense 9/48 - 1
3-164780195-CTCCTAGAAGGATGTA-C c.970_984del p.Tyr324_Gly328del InFrameDeletion 9/48 - 1
3-164780196-C-G c.983G>C p.Gly328Ala Missense 9/48 - 1
3-164780197-C-T c.982G>A p.Gly328Arg Missense 9/48 - 1
3-164780197-C-G c.982G>C p.Gly328Arg Missense 9/48 - 1
3-164780199-AG-TC c.979_980delinsGA p.Leu327Glu Missense 9/48 - 1
3-164780203-G-T c.976C>A p.Leu326Ile Missense 9/48 - 1
3-164780208-TA-GC c.970_971delinsGC p.Tyr324Ala Missense 9/48 - 1
3-164780208-T-A c.971A>T p.Tyr324Phe Missense 9/48 - 2
3-164780208-TA-CT c.970_971delinsAG p.Tyr324Ser Missense 9/48 - 1
3-164780211-AA-GC c.967_968delinsGC p.Phe323Ala Missense 9/48 - 1
3-164780211-A-T c.968T>A p.Phe323Tyr Missense 9/48 - 1
3-164780214-T-G c.965A>C p.Asp322Ala Missense 9/48 - 1
3-164780216-CAG-TTT c.961_963delinsAAA p.Leu321Lys Missense 9/48 - 1
3-164780217-AG-GA c.961_962delinsTC p.Leu321Ser Missense 9/48 - 1
3-164780217-AG-GC c.961_962delinsGC p.Leu321Ala Missense 9/48 - 1
3-164780218-G-GG c.961dup p.Leu321Profs*43 Frameshift 9/48 - 1
3-164780220-AA-A c.960del p.Leu321Trpfs*7 Frameshift 9/48 - 1
3-164780225-ACC-TGG c.952_954delinsCCA p.Gly318Pro Missense 9/48 - 2
3-164780226-C-G c.953G>C p.Gly318Ala Missense 9/48 - 1
3-164780229-GT-CT c.950delinsG p.Thr317Ser Missense 9/48 - 1
3-164780233-C-T c.946G>A p.Val316Ile Missense 9/48 - 2
3-164780234-T-A c.945A>T p.Arg315Ser Missense 9/48 - 1
3-164780235-CT-GC c.943_944delinsGC p.Arg315Ala Missense 9/48 - 1
3-164780238-T-C c.941A>G p.Tyr314Cys Missense 9/48 - 2
3-164780238-TA-GC c.940_941delinsGC p.Tyr314Ala Missense 9/48 - 2
3-164780239-A-C c.940T>G p.Tyr314Asp Missense 9/48 - 1
3-164780243-TAC-ATG c.934_936delinsCAT p.Val312His Missense 9/48 - 2
3-164780265-AA-GC c.913_914delinsGC p.Phe305Ala Missense 9/48 - 1
3-164780264-A-T c.915T>A p.Phe305Leu Missense 9/48 - 1
3-164780266-A-G c.913T>C p.Phe305Leu Missense 9/48 - 1
3-164780264-A-C c.915T>G p.Phe305Leu Missense 9/48 - 1
3-164780268-AT-GC c.910_911delinsGC p.Ile304Ala Missense 9/48 - 1
3-164781234-T-G c.903A>C p.Ala301Ala Synonymous 8/48 - 1
3-164781234-T-C c.903A>G p.Ala301Ala Synonymous 8/48 - 1
3-164781234-T-A c.903A>T p.Ala301Ala Synonymous 8/48 - 1
3-164781235-G-C c.902C>G p.Ala301Gly Missense 8/48 - 1
3-164781236-C-A c.901G>T p.Ala301Ser Missense 8/48 - 2
3-164781236-C-T c.901G>A p.Ala301Thr Missense 8/48 - 1
3-164781238-T-G c.899A>C p.Asn300Thr Missense 8/48 - 1
3-164781240-GCT-GAG c.895_896delinsCT p.Ser299Leu Missense 8/48 - 1
3-164781241-CT-GC c.895_896delinsGC p.Ser299Ala Missense 8/48 - 2
3-164781244-TT-GC c.892_893delinsGC p.Asn298Ala Missense 8/48 - 1
3-164781253-A-G c.884T>C p.Phe295Ser Missense 8/48 - 1
3-164781254-A-G c.883T>C p.Phe295Leu Missense 8/48 - 1
3-164781252-A-T c.885T>A p.Phe295Leu Missense 8/48 - 1
3-164781252-A-C c.885T>G p.Phe295Leu Missense 8/48 - 1
3-164781259-C-T c.878G>A p.Gly293Asp Missense 8/48 - 2
3-164781267-C-G c.870G>C p.Lys290Asn Missense 8/48 - 1
3-164781267-C-A c.870G>T p.Lys290Asn Missense 8/48 - 1
3-164781268-T-C c.869A>G p.Lys290Arg Missense 8/48 - 2
3-164781268-TT-GC c.868_869delinsGC p.Lys290Ala Missense 8/48 - 4
3-164781269-T-C c.868A>G p.Lys290Glu Missense 8/48 - 3
3-164781270-TC-AC c.867delinsT p.Gly289Gly Missense 8/48 - 1
3-164781272-C-CC c.866dup p.Ser291Valfs*9 Frameshift 8/48 - 1
3-164781274-GA-CA c.863delinsG p.Ser288Cys Missense 8/48 - 1
3-164781274-AGATGTATCTT-A c.854_863del p.Glu285Valfs*9 Frameshift 8/48 - 1
3-164781274-G-C c.863C>G p.Ser288Cys Missense 8/48 - 80
3-164781275-A-C c.862T>G p.Ser288Ala Missense 8/48 - 1
3-164781276-TGT-GAC c.859_861delinsGTC p.Thr287Val Missense 8/48 - 4
3-164781280-TC-CG c.856_857delinsCG p.Asp286Arg Missense 8/48 - 2
3-164781280-T-C c.857A>G p.Asp286Gly Missense 8/48 - 2
3-164781280-T-A c.857A>T p.Asp286Val Missense 8/48 - 1
3-164781281-C-A c.856G>T p.Asp286Tyr Missense 8/48 - 1
3-164781283-T-G c.854A>C p.Glu285Ala Missense 8/48 - 1
3-164781284-C-T c.853G>A p.Glu285Lys Missense 8/48 - 1
3-164781284-C-G c.853G>C p.Glu285Gln Missense 8/48 - 2
3-164781286-AT-TG c.850_851delinsCA p.Ile284His Missense 8/48 - 2
3-164781289-CA-GC c.847_848delinsGC p.Cys283Ala Missense 8/48 - 2
3-164781289-C-G c.848G>C p.Cys283Ser Missense 8/48 - 1
3-164781290-A-T c.847T>A p.Cys283Ser Missense 8/48 - 1
3-164781293-T-A c.844A>T p.Met282Leu Missense 8/48 - 1
3-164781293-T-C c.844A>G p.Met282Val Missense 8/48 - 1
3-164781293-T-G c.844A>C p.Met282Leu Missense 8/48 - 1
3-164781295-AA-GA c.842delinsC p.Phe281Ser Missense 8/48 - 1
3-164781295-AA-GC c.841_842delinsGC p.Phe281Ala Missense 8/48 - 1
3-164781295-A-T c.842T>A p.Phe281Tyr Missense 8/48 - 1
3-164781296-A-T c.841T>A p.Phe281Ile Missense 8/48 - 1
3-164781298-AA-GC c.838_839delinsGC p.Phe280Ala Missense 8/48 - 1
3-164781302-T-C c.835A>G p.Thr279Ala Missense 8/48 - 1
3-164781307-TG-GC c.829_830delinsGC p.His277Ala Missense 8/48 - 3
3-164781308-G-T c.829C>A p.His277Asn Missense 8/48 - 1
3-164781314-A-G c.823T>C p.Tyr275His Missense 8/48 - 1
3-164781315-TA-GT c.821_822delinsAC p.Leu274Tyr Missense 8/48 - 1
3-164781316-A-G c.821T>C p.Leu274Ser Missense 8/48 - 2
3-164781316-AA-GG c.820_821delinsCC p.Leu274Pro Missense 8/48 - 5
3-164781316-AA-GC c.820_821delinsGC p.Leu274Ala Missense 8/48 - 2
3-164781318-ATT-CAA c.817_819delinsTTG p.Asn273Leu Missense 8/48 - 1
3-164781319-TT-CT c.818delinsG p.Asn273Ser Missense 8/48 - 1
3-164781321-ATT-CAA c.814_816delinsTTG p.Asn272Leu Missense 8/48 - 2
3-164781323-T-C c.814A>G p.Asn272Asp Missense 8/48 - 1
3-164781325-TT-CT c.812delinsG p.Asn271Ser Missense 8/48 - 1
3-164783050-T-G c.806A>C p.Asp269Ala Missense 7/48 - 4
3-164783053-C-T c.803G>A p.Gly268Asp Missense 7/48 - 1
3-164783067-TC-AT c.788_789delinsAT p.Arg263His Missense 7/48 - 2
3-164783068-CG-GA c.787_788delinsTC p.Arg263Ser Missense 7/48 - 1
3-164783070-A-C c.786T>G p.Thr262Thr Synonymous 7/48 - 1
3-164783074-AA-CC c.781_782delinsGG p.Phe261Gly Missense 7/48 - 3
3-164783074-A-T c.782T>A p.Phe261Tyr Missense 7/48 - 4
3-164783074-A-G c.782T>C p.Phe261Ser Missense 7/48 - 1
3-164783074-AA-GC c.781_782delinsGC p.Phe261Ala Missense 7/48 - 1
3-164783077-AT-TG c.778_779delinsCA p.Ile260His Missense 7/48 - 1
3-164783077-AT-GC c.778_779delinsGC p.Ile260Ala Missense 7/48 - 3
3-164783082-CC-TT c.773_774delinsAA p.Trp258* Missense 7/48 - 3
3-164783083-CA-GC c.772_773delinsGC p.Trp258Ala Missense 7/48 - 1
3-164783087-T-A c.769A>T p.Thr257Ser Missense 7/48 - 1
3-164783090-T-C c.766A>G p.Lys256Glu Missense 7/48 - 1
3-164783101-T-G c.755A>C p.Asp252Ala Missense 7/48 - 1
3-164783102-C-T c.754G>A p.Asp252Asn Missense 7/48 - 1
3-164783104-TG-GC c.751_752delinsGC p.His251Ala Missense 7/48 - 1
3-164783105-G-T c.751C>A p.His251Asn Missense 7/48 - 2
3-164783107-CG-GC c.748_749delinsGC p.Arg250Ala Missense 7/48 - 2
3-164783108-G-A c.748C>T p.Arg250Cys Missense 7/48 - 1
3-164783113-CT-GC c.742_743delinsGC p.Arg248Ala Missense 7/48 - 1
3-164783116-TT-CT c.740delinsG p.Lys247Arg Missense 7/48 - 1
3-164783116-TT-GC c.739_740delinsGC p.Lys247Ala Missense 7/48 - 1
3-164783119-TG-GC c.736_737delinsGC p.His246Ala Missense 7/48 - 1
3-164783120-G-T c.736C>A p.His246Asn Missense 7/48 - 1
3-164783121-AAC-AAG c.733delinsC p.Val245Leu Missense 7/48 - 1
3-164783121-AAC-CAA c.733_735delinsTTG p.Val245Leu Missense 7/48 - 1
3-164783123-C-A c.733G>T p.Val245Phe Missense 7/48 - 1
3-164783127-TTC-TGT c.727_728delinsAC p.Glu243Thr Missense 7/48 - 2
3-164783128-T-G c.728A>C p.Glu243Ala Missense 7/48 - 1
3-164783128-T-C c.728A>G p.Glu243Gly Missense 7/48 - 1
3-164783128-TC-CC c.728delinsG p.Glu243Gly Missense 7/48 - 2
3-164783133-AAT-TGG c.721_723delinsCCA p.Ile241Pro Missense 7/48 - 1
3-164783134-AT-CA c.721_722delinsTG p.Ile241Cys Missense 7/48 - 1
3-164783134-A-G c.722T>C p.Ile241Thr Missense 7/48 - 1
3-164783134-AT-TG c.721_722delinsCA p.Ile241His Missense 7/48 - 1
3-164783137-C-T c.719G>A p.Gly240Asp Missense 7/48 - 1
3-164783138-C-A c.718G>T p.Gly240Cys Missense 7/48 - 1
3-164783140-TA-GC c.715_716delinsGC p.Tyr239Ala Missense 7/48 - 1
3-164783143-AT-GC c.712_713delinsGC p.Ile238Ala Missense 7/48 - 1
3-164783148-A-C c.708T>G p.Asp236Glu Missense 7/48 - 1
3-164783148-A-T c.708T>A p.Asp236Glu Missense 7/48 - 1
3-164783150-C-G c.706G>C p.Asp236His Missense 7/48 - 1
3-164783150-C-T c.706G>A p.Asp236Asn Missense 7/48 - 2
3-164783151-ACT-GAG c.703_705delinsCTC p.Ser235Leu Missense 7/48 - 1
3-164783151-A-G c.705T>C p.Ser235Ser Synonymous 7/48 - 1
3-164783153-T-A c.703A>T p.Ser235Cys Missense 7/48 - 1
3-164783158-AG-GC c.697_698delinsGC p.Leu233Ala Missense 7/48 - 1
3-164783160-ACG-AAG c.695delinsT p.Arg232Leu Missense 7/48 - 1
3-164783161-CG-GC c.694_695delinsGC p.Arg232Ala Missense 7/48 - 4
3-164783165-T-C c.691A>G p.Thr231Ala Missense 7/48 - 3
3-164783168-A-C c.688T>G p.Ser230Ala Missense 7/48 - 2
3-164783170-AT-TA c.685_686delinsTA p.Ile229Tyr Missense 7/48 - 1
3-164783170-AT-GC c.685_686delinsGC p.Ile229Ala Missense 7/48 - 2
3-164783170-A-T c.686T>A p.Ile229Asn Missense 7/48 - 1
3-164783172-CTG-TGT c.682_684delinsACA p.Gln228Thr Missense 7/48 - 1
3-164783173-TG-GC c.682_683delinsGC p.Gln228Ala Missense 7/48 - 2
3-164783175-TA-GG c.680_681delinsCC p.Leu227Ser Missense 7/48 - 1
3-164783176-AA-GC c.679_680delinsGC p.Leu227Ala Missense 7/48 - 2
3-164783179-TA-GC c.676_677delinsGC p.Tyr226Ala Missense 7/48 - 1
3-164783179-T-A c.677A>T p.Tyr226Phe Missense 7/48 - 1
3-164783181-CTG-TGT c.673_675delinsACA p.Gln225Thr Missense 7/48 - 1
3-164783184-G-C c.672C>G p.Asp224Glu Missense 7/48 - 1
3-164783184-G-T c.672C>A p.Asp224Glu Missense 7/48 - 1
3-164783185-T-C c.671A>G p.Asp224Gly Missense 7/48 - 1
3-164783189-A-C c.667T>G p.Ser223Ala Missense 7/48 - 1
3-164783189-A-G c.667T>C p.Ser223Pro Missense 7/48 - 1
3-164783189-A-T c.667T>A p.Ser223Thr Missense 7/48 - 2
3-164783190-GT-GG c.665delinsC p.Tyr222Ser Missense 7/48 - 1
3-164783191-TA-GC c.664_665delinsGC p.Tyr222Ala Missense 7/48 - 1
3-164783193-CAC-TGT c.661_663delinsACA p.Val221Thr Missense 7/48 - 1
3-164783193-CAC-TAT c.661_663delinsATA p.Val221Ile Missense 7/48 - 1
3-164783193-CAC-ATC c.662_663delinsAT p.Val221Asp Missense 7/48 - 1
3-164783194-A-G c.662T>C p.Val221Ala Missense 7/48 - 1
3-164783196-TAA-GAC c.658_660delinsGTC p.Leu220Val Missense 7/48 - 1
3-164783198-A-C c.658T>G p.Leu220Val Missense 7/48 - 1
3-164783200-GG-TG c.656delinsA p.Pro219His Missense 7/48 - 1
3-164783201-G-C c.655C>G p.Pro219Ala Missense 7/48 - 1
3-164783202-AC-AG c.653delinsC p.Gly218Ala Missense 7/48 - 2
3-164783206-AT-TG c.649_650delinsCA p.Ile217His Missense 7/48 - 3
3-164783209-CT-TT c.647delinsA p.Ser216Asn Missense 7/48 - 1
3-164783209-CT-TA c.646_647delinsTA p.Ser216Tyr Missense 7/48 - 1
3-164783209-CT-GC c.646_647delinsGC p.Ser216Ala Missense 7/48 - 1
3-164783210-T-A c.646A>T p.Ser216Cys Missense 7/48 - 2
3-164783212-GT-TA c.643_644delinsTA p.Thr215Tyr Missense 7/48 - 18
3-164783212-GT-TT c.644delinsA p.Thr215Asn Missense 7/48 - 4
3-164783212-GT-TG c.643_644delinsCA p.Thr215His Missense 7/48 - 1
3-164783215-TC-CG c.640_641delinsCG p.Asp214Arg Missense 7/48 - 2
3-164783215-T-C c.641A>G p.Asp214Gly Missense 7/48 - 1
3-164783215-T-G c.641A>C p.Asp214Ala Missense 7/48 - 4
3-164783216-C-T c.640G>A p.Asp214Asn Missense 7/48 - 2
3-164783217-AAA-GAG c.637_639delinsCTC p.Phe213Leu Missense 7/48 - 1
3-164783218-AA-CG c.637_638delinsCG p.Phe213Arg Missense 7/48 - 1
3-164783218-A-G c.638T>C p.Phe213Ser Missense 7/48 - 1
3-164785131-G-A c.632C>T p.Thr211Ile Missense 6/48 - 2
3-164785134-TT-GC c.628_629delinsGC p.Lys210Ala Missense 6/48 - 2
3-164785137-C-A c.626G>T p.Gly209Val Missense 6/48 - 2
3-164785137-C-G c.626G>C p.Gly209Ala Missense 6/48 - 2
3-164785143-GC-G c.620del p.Ser207Thrfs*14 Frameshift 6/48 - 1
3-164785144-T-A c.619A>T p.Ser207Cys Missense 6/48 - 2
3-164785146-TT-CT c.617delinsG p.Lys206Arg Missense 6/48 - 1
3-164785146-T-G c.617A>C p.Lys206Thr Missense 6/48 - 1
3-164785148-CCT-CAT c.614delinsT p.Arg205Met Missense 6/48 - 1
3-164785149-CT-GC c.613_614delinsGC p.Arg205Ala Missense 6/48 - 1
3-164785149-C-T c.614G>A p.Arg205Lys Missense 6/48 - 1
3-164785151-AAT-TGG c.610_612delinsCCA p.Ile204Pro Missense 6/48 - 1
3-164785155-A-G c.608T>C p.Val203Ala Missense 6/48 - 1
3-164785158-TG-GC c.604_605delinsGC p.Gln202Ala Missense 6/48 - 1
3-164785160-GAT-TGG c.601_603delinsCCA p.Ile201Pro Missense 6/48 - 1
3-164785161-AT-TG c.601_602delinsCA p.Ile201His Missense 6/48 - 2
3-164785162-T-A c.601A>T p.Ile201Phe Missense 6/48 - 1
3-164785164-CT-GC c.598_599delinsGC p.Ser200Ala Missense 6/48 - 1
3-164785168-A-T c.595T>A p.Phe199Ile Missense 6/48 - 1
3-164785172-G-T c.591C>A p.Asn197Lys Missense 6/48 - 1
3-164785173-TT-GC c.589_590delinsGC p.Asn197Ala Missense 6/48 - 1
3-164785173-TT-TG c.589delinsC p.Asn197His Missense 6/48 - 1
3-164785182-AC-TG c.580_581delinsCA p.Val194His Missense 6/48 - 1
3-164785182-AACCTTCACATCA-A c.572_583del p.Asp191_Val194del InFrameDeletion 6/48 - 1
3-164785182-A-T c.581T>A p.Val194Asp Missense 6/48 - 1
3-164785186-T-G c.577A>C p.Lys193Gln Missense 6/48 - 1
3-164785188-A-G c.575T>C p.Val192Ala Missense 6/48 - 2
3-164785189-C-A c.574G>T p.Val192Leu Missense 6/48 - 1
3-164785191-TC-CG c.571_572delinsCG p.Asp191Arg Missense 6/48 - 1
3-164785191-T-G c.572A>C p.Asp191Ala Missense 6/48 - 1
3-164785194-T-A c.569A>T p.Tyr190Phe Missense 6/48 - 2
3-164785194-TA-GC c.568_569delinsGC p.Tyr190Ala Missense 6/48 - 1
3-164785196-CAA-GAC c.565_567delinsGTC p.Leu189Val Missense 6/48 - 1
3-164785197-AA-AG c.565delinsC p.Leu189Leu Missense 6/48 - 1
3-164785198-A-T c.565T>A p.Leu189Met Missense 6/48 - 1
3-164785203-T-G c.560A>C p.Asp187Ala Missense 6/48 - 2
3-164785204-C-T c.559G>A p.Asp187Asn Missense 6/48 - 4
3-164785204-C-A c.559G>T p.Asp187Tyr Missense 6/48 - 2
3-164785206-GA-AA c.557delinsT p.Ser186Phe Missense 6/48 - 1
3-164785207-A-G c.556T>C p.Ser186Pro Missense 6/48 - 2
3-164785207-A-C c.556T>G p.Ser186Ala Missense 6/48 - 3
3-164785209-A-G c.554T>C p.Val185Ala Missense 6/48 - 2
3-164785209-AC-AA c.553delinsT p.Val185Phe Missense 6/48 - 1
3-164785210-C-A c.553G>T p.Val185Phe Missense 6/48 - 1
3-164785211-TGT-GAC c.550_552delinsGTC p.Thr184Val Missense 6/48 - 1
3-164785211-TG-AC c.551_552delinsGT p.Thr184Ser Missense 6/48 - 1
3-164785212-G-C c.551C>G p.Thr184Arg Missense 6/48 - 1
3-164785215-G-T c.548C>A p.Pro183His Missense 6/48 - 1
3-164785217-GTC-G c.545_546del p.Gly182Alafs*5 Frameshift 6/48 - 1
3-164785226-CTC-TGT c.535_537delinsACA p.Glu179Thr Missense 6/48 - 1
3-164785227-T-C c.536A>G p.Glu179Gly Missense 6/48 - 1
3-164785228-C-G c.535G>C p.Glu179Gln Missense 6/48 - 1
3-164785229-TT-GC c.533_534delinsGC p.Lys178Ser Missense 6/48 - 1
3-164785231-T-C c.532A>G p.Lys178Glu Missense 6/48 - 1
3-164785232-TA-AC c.530_531delinsGT p.Val177Gly Missense 6/48 - 1
3-164785236-T-A c.527A>T p.Tyr176Phe Missense 6/48 - 3
3-164785236-TA-CT c.526_527delinsAG p.Tyr176Ser Missense 6/48 - 1
3-164785236-T-C c.527A>G p.Tyr176Cys Missense 6/48 - 1
3-164785237-A-G c.526T>C p.Tyr176His Missense 6/48 - 1
3-164785242-TG-GC c.520_521delinsGC p.His174Ala Missense 6/48 - 1
3-164785250-TTC-TGT c.511_512delinsAC p.Glu171Thr Missense 6/48 - 2
3-164785251-T-G c.512A>C p.Glu171Ala Missense 6/48 - 2
3-164785252-C-G c.511G>C p.Glu171Gln Missense 6/48 - 1
3-164785254-T-A c.509A>T p.Tyr170Phe Missense 6/48 - 2
3-164785256-TCT-TGT c.506delinsC p.Arg169Thr Missense 6/48 - 3
3-164785257-CT-GC c.505_506delinsGC p.Arg169Ala Missense 6/48 - 3
3-164785257-C-T c.506G>A p.Arg169Lys Missense 6/48 - 1
3-164785260-CT-GA c.502_503delinsTC p.Arg168Ser Missense 6/48 - 1
3-164785260-CT-GC c.502_503delinsGC p.Arg168Ala Missense 6/48 - 1
3-164785261-T-A c.502A>T p.Arg168* Nonsense 6/48 - 1
3-164785262-A-C c.501T>G p.Asn167Lys Missense 6/48 - 1
3-164785262-A-T c.501T>A p.Asn167Lys Missense 6/48 - 1
3-164785263-TT-GC c.499_500delinsGC p.Asn167Ala Missense 6/48 - 3
3-164785266-TT-GC c.496_497delinsGC p.Asn166Ala Missense 6/48 - 1
3-164785267-T-G c.496A>C p.Asn166His Missense 6/48 - 1
3-164785267-T-C c.496A>G p.Asn166Asp Missense 6/48 - 2
3-164785270-G-A c.493C>T p.Pro165Ser Missense 6/48 - 1
3-164785272-T-G c.491A>C p.Asp164Ala Missense 6/48 - 1
3-164785273-C-T c.490G>A p.Asp164Asn Missense 6/48 - 3
3-164785275-GT-TG c.487_488delinsCA p.Thr163His Missense 6/48 - 3
3-164785276-T-C c.487A>G p.Thr163Ala Missense 6/48 - 1
3-164785276-T-G c.487A>C p.Thr163Pro Missense 6/48 - 1
3-164785278-AT-TG c.484_485delinsCA p.Ile162His Missense 6/48 - 2
3-164786510-C-A c.483G>T p.Lys161Asn Missense 5/48 - 1
3-164786510-C-G c.483G>C p.Lys161Asn Missense 5/48 - 1
3-164786511-T-C c.482A>G p.Lys161Arg Missense 5/48 - 1
3-164786514-A-C c.479T>G p.Phe160Cys Missense 5/48 - 1
3-164786514-AA-GC c.478_479delinsGC p.Phe160Ala Missense 5/48 - 1
3-164786513-G-T c.480C>A p.Phe160Leu Missense 5/48 - 1
3-164786513-G-C c.480C>G p.Phe160Leu Missense 5/48 - 1
3-164786515-A-G c.478T>C p.Phe160Leu Missense 5/48 - 1
3-164786515-A-T c.478T>A p.Phe160Ile Missense 5/48 - 1
3-164786517-CG-GC c.475_476delinsGC p.Arg159Ala Missense 5/48 - 2
3-164786517-CG-GT c.475_476delinsAC p.Arg159Thr Missense 5/48 - 1
3-164786520-AA-GC c.472_473delinsGC p.Phe158Ala Missense 5/48 - 1
3-164786522-ACG-GAG c.470_471delinsTC p.Arg157Leu Missense 5/48 - 2
3-164786523-CG-GC c.469_470delinsGC p.Arg157Ala Missense 5/48 - 2
3-164786524-G-A c.469C>T p.Arg157Cys Missense 5/48 - 1
3-164786528-G-T c.465C>A p.Pro155Pro Synonymous 5/48 - 1
3-164786533-T-C c.460A>G p.Thr154Ala Missense 5/48 - 1
3-164786536-G-C c.457C>G p.Gln153Glu Missense 5/48 - 1
3-164786537-A-T c.456T>A p.Asn152Lys Missense 5/48 - 1
3-164786537-A-C c.456T>G p.Asn152Lys Missense 5/48 - 1
3-164786539-T-C c.454A>G p.Asn152Asp Missense 5/48 - 1
3-164786540-TTG-ATG c.453delinsT p.Gln151His Missense 5/48 - 5
3-164786542-G-A c.451C>T p.Gln151* Nonsense 5/48 - 2
3-164786542-G-C c.451C>G p.Gln151Glu Missense 5/48 - 1
3-164786547-G-T c.446C>A p.Thr149Lys Missense 5/48 - 1
3-164786548-T-G c.445A>C p.Thr149Pro Missense 5/48 - 1
3-164786553-AG-AC c.439delinsG p.Leu147Val Missense 5/48 - 1
3-164786553-AG-GA c.439_440delinsTC p.Leu147Ser Missense 5/48 - 1
3-164786557-C-G c.436G>C p.Val146Leu Missense 5/48 - 1
3-164786558-AC-AG c.434delinsC p.Ser145Thr Missense 5/48 - 1
3-164786559-CT-GC c.433_434delinsGC p.Ser145Ala Missense 5/48 - 1
3-164786560-T-A c.433A>T p.Ser145Cys Missense 5/48 - 1
3-164786565-AT-GC c.427_428delinsGC p.Ile143Ala Missense 5/48 - 2
3-164786565-A-G c.428T>C p.Ile143Thr Missense 5/48 - 1
3-164786566-T-G c.427A>C p.Ile143Leu Missense 5/48 - 2
3-164786567-G-T c.426C>A p.Asp142Glu Missense 5/48 - 1
3-164786567-G-C c.426C>G p.Asp142Glu Missense 5/48 - 1
3-164786568-T-G c.425A>C p.Asp142Ala Missense 5/48 - 3
3-164786568-TC-TG c.424delinsC p.Asp142His Missense 5/48 - 1
3-164786570-ATT-TGG c.421_423delinsCCA p.Asn141Pro Missense 5/48 - 1
3-164786573-TCC-AGC c.419_420delinsCT p.Gly140Ala Missense 5/48 - 9
3-164786573-TCC-ATG c.418_420delinsCAT p.Gly140His Missense 5/48 - 1
3-164786573-TCC-TGT c.418_419delinsAC p.Gly140Thr Missense 5/48 - 1
3-164786574-C-G c.419G>C p.Gly140Ala Missense 5/48 - 2
3-164786574-CC-CT c.418delinsA p.Gly140Arg Missense 5/48 - 1
3-164786577-AA-GC c.415_416delinsGC p.Phe139Ala Missense 5/48 - 1
3-164786579-TAG-TTT c.412_413delinsAA p.Leu138Lys Missense 5/48 - 1
3-164786579-TAG-ATG c.413_414delinsAT p.Leu138His Missense 5/48 - 1
3-164786580-A-T c.413T>A p.Leu138Gln Missense 5/48 - 1
3-164786580-AG-GG c.413delinsC p.Leu138Pro Missense 5/48 - 1
3-164786584-T-C c.409A>G p.Thr137Ala Missense 5/48 - 3
3-164786590-A-C c.403T>G p.Ser135Ala Missense 5/48 - 3
3-164786592-GG-TG c.401delinsA p.Pro134His Missense 5/48 - 1
3-164786592-GG-GT c.400delinsA p.Pro134Thr Missense 5/48 - 1
3-164786594-TA-GC c.398_399delinsGC p.Ile133Ser Missense 5/48 - 2
3-164786594-TAT-TGT c.398delinsC p.Ile133Thr Missense 5/48 - 1
3-164786595-AT-GC c.397_398delinsGC p.Ile133Ala Missense 5/48 - 2
3-164786596-T-C c.397A>G p.Ile133Val Missense 5/48 - 1
3-164786596-T-A c.397A>T p.Ile133Leu Missense 5/48 - 1
3-164786596-T-G c.397A>C p.Ile133Leu Missense 5/48 - 1
3-164786597-CCT-TAT c.395_396delinsTA p.Arg132Ile Missense 5/48 - 1
3-164786597-CC-AC c.396delinsT p.Arg132Ser Missense 5/48 - 1
3-164786597-CCT-CAT c.395delinsT p.Arg132Met Missense 5/48 - 1
3-164786597-CCT-TGT c.395_396delinsCA p.Arg132Thr Missense 5/48 - 2
3-164786598-CT-CA c.394delinsT p.Arg132Trp Missense 5/48 - 2
3-164786598-C-A c.395G>T p.Arg132Met Missense 5/48 - 1
3-164786598-C-T c.395G>A p.Arg132Lys Missense 5/48 - 3
3-164786598-CT-GC c.394_395delinsGC p.Arg132Ala Missense 5/48 - 4
3-164786599-T-C c.394A>G p.Arg132Gly Missense 5/48 - 1
3-164786601-TT-GC c.391_392delinsGC p.Asn131Ala Missense 5/48 - 1
3-164786602-T-C c.391A>G p.Asn131Asp Missense 5/48 - 2
3-164786603-TAA-GAC c.388_390delinsGTC p.Leu130Val Missense 5/48 - 2
3-164786603-TA-GG c.389_390delinsCC p.Leu130Ser Missense 5/48 - 2
3-164786604-A-G c.389T>C p.Leu130Ser Missense 5/48 - 2
3-164786604-A-C c.389T>G p.Leu130* Nonsense 5/48 - 1
3-164786604-A-T c.389T>A p.Leu130* Nonsense 5/48 - 1
3-164786604-AA-CC c.388_389delinsGG p.Leu130Gly Missense 5/48 - 1
3-164786604-AA-GC c.388_389delinsGC p.Leu130Ala Missense 5/48 - 2
3-164786604-AA-GA c.389delinsC p.Leu130Ser Missense 5/48 - 1
3-164786604-AA-GG c.388_389delinsCC p.Leu130Pro Missense 5/48 - 1
3-164786606-TTT-TGT c.386delinsC p.Lys129Thr Missense 5/48 - 1
3-164786607-TT-GC c.385_386delinsGC p.Lys129Ala Missense 5/48 - 1
3-164786608-T-A c.385A>T p.Lys129* Nonsense 5/48 - 1
3-164786610-GC-AA c.382_383delinsTT p.Ala128Phe Missense 5/48 - 1
3-164786610-GC-CT c.382_383delinsAG p.Ala128Ser Missense 5/48 - 1
3-164786610-G-A c.383C>T p.Ala128Val Missense 5/48 - 1
3-164786610-GC-TG c.382_383delinsCA p.Ala128His Missense 5/48 - 1
3-164786611-C-A c.382G>T p.Ala128Ser Missense 5/48 - 1
3-164786611-C-T c.382G>A p.Ala128Thr Missense 5/48 - 1
3-164786613-T-G c.380A>C p.Glu127Ala Missense 5/48 - 2
3-164786616-A-G c.377T>C p.Val126Ala Missense 5/48 - 1
3-164786618-TC-AC c.375delinsT p.Gly125Gly Missense 5/48 - 1
3-164786619-C-G c.374G>C p.Gly125Ala Missense 5/48 - 3
3-164786868-AT-GC c.370_371delinsGC p.Ile124Ala Missense 4/48 - 1
3-164786869-T-G c.370A>C p.Ile124Leu Missense 4/48 - 1
3-164786870-ACT-GAG c.367_369delinsCTC p.Ser123Leu Missense 4/48 - 2
3-164786871-CT-GC c.367_368delinsGC p.Ser123Ala Missense 4/48 - 3
3-164786871-C-T c.368G>A p.Ser123Asn Missense 4/48 - 1
3-164786873-TGT-CAT c.365_366delinsTG p.Thr122Met Missense 4/48 - 1
3-164786873-TG-AC c.365_366delinsGT p.Thr122Ser Missense 4/48 - 1
3-164786873-TT-T c.367del p.Ser123Valfs*8 Frameshift 4/48 - 1
3-164786874-G-C c.365C>G p.Thr122Arg Missense 4/48 - 1
3-164786877-G-A c.362C>T p.Thr121Ile Missense 4/48 - 1
3-164786878-T-C c.361A>G p.Thr121Ala Missense 4/48 - 1
3-164786879-TGT-CAT c.359_360delinsTG p.Thr120Met Missense 4/48 - 1
3-164786881-T-C c.358A>G p.Thr120Ala Missense 4/48 - 1
3-164786882-CA-GC c.356_357delinsGC p.Met119Ser Missense 4/48 - 1
3-164786888-TTG-ATG c.351delinsT p.Gln117His Missense 4/48 - 1
3-164786889-TG-GC c.349_350delinsGC p.Gln117Ala Missense 4/48 - 1
3-164786889-T-C c.350A>G p.Gln117Arg Missense 4/48 - 2
3-164786889-T-A c.350A>T p.Gln117Leu Missense 4/48 - 1
3-164786889-TG-TC c.349delinsG p.Gln117Glu Missense 4/48 - 1
3-164786892-A-T c.347T>A p.Val116Asp Missense 4/48 - 1
3-164786892-A-G c.347T>C p.Val116Ala Missense 4/48 - 2
3-164786892-AC-TG c.346_347delinsCA p.Val116His Missense 4/48 - 1
3-164786898-TA-GC c.340_341delinsGC p.Tyr114Ala Missense 4/48 - 4
3-164786898-T-A c.341A>T p.Tyr114Phe Missense 4/48 - 2
3-164786898-TA-CG c.340_341delinsCG p.Tyr114Arg Missense 4/48 - 1
3-164786899-A-T c.340T>A p.Tyr114Asn Missense 4/48 - 1
3-164786900-ACC-TGG c.337_339delinsCCA p.Gly113Pro Missense 4/48 - 1
3-164786901-C-G c.338G>C p.Gly113Ala Missense 4/48 - 2
3-164786902-C-G c.337G>C p.Gly113Arg Missense 4/48 - 1
3-164786902-C-A c.337G>T p.Gly113Cys Missense 4/48 - 2
3-164786904-TG-GC c.334_335delinsGC p.His112Ala Missense 4/48 - 1
3-164786905-G-T c.334C>A p.His112Asn Missense 4/48 - 1
3-164786906-A-C c.333T>G p.Asn111Lys Missense 4/48 - 1
3-164786907-TT-GG c.331_332delinsCC p.Asn111Pro Missense 4/48 - 1
3-164786907-T-C c.332A>G p.Asn111Ser Missense 4/48 - 1
3-164786907-TT-GC c.331_332delinsGC p.Asn111Ala Missense 4/48 - 2
3-164786910-T-C c.329A>G p.Asp110Gly Missense 4/48 - 2
3-164786910-TC-TG c.328delinsC p.Asp110His Missense 4/48 - 1
3-164786910-T-G c.329A>C p.Asp110Ala Missense 4/48 - 1
3-164786911-C-T c.328G>A p.Asp110Asn Missense 4/48 - 1
3-164786912-AA-AG c.326delinsC p.Val109Ala Missense 4/48 - 1
3-164786913-AC-CA c.325_326delinsTG p.Val109Cys Missense 4/48 - 1
3-164786913-A-G c.326T>C p.Val109Ala Missense 4/48 - 2
3-164786913-A-T c.326T>A p.Val109Asp Missense 4/48 - 1
3-164786913-AC-TG c.325_326delinsCA p.Val109His Missense 4/48 - 1
3-164786915-G-A c.324C>T p.Phe108Phe Synonymous 4/48 - 1
3-164786916-A-T c.323T>A p.Phe108Tyr Missense 4/48 - 1
3-164786915-G-T c.324C>A p.Phe108Leu Missense 4/48 - 1
3-164786917-A-G c.322T>C p.Phe108Leu Missense 4/48 - 1
3-164786915-G-C c.324C>G p.Phe108Leu Missense 4/48 - 1
3-164786918-GA-AA c.321delinsT p.Phe107Phe Nonsense 4/48 - 1
3-164786922-C-T c.317G>A p.Cys106Tyr Missense 4/48 - 1
3-164786922-C-G c.317G>C p.Cys106Ser Missense 4/48 - 3
3-164786923-A-T c.316T>A p.Cys106Ser Missense 4/48 - 3
3-164786924-C-A c.315G>T p.Trp105Cys Missense 4/48 - 1
3-164786924-CC-TT c.314_315delinsAA p.Trp105* Missense 4/48 - 1
3-164786933-AAG-TGG c.305_306delinsCA p.Leu102Pro Missense 4/48 - 1
3-164786934-AG-GC c.304_305delinsGC p.Leu102Ala Missense 4/48 - 2
3-164786936-A-T c.303T>A p.Ser101Ser Synonymous 4/48 - 1
3-164786936-A-C c.303T>G p.Ser101Ser Synonymous 4/48 - 1
3-164786936-A-G c.303T>C p.Ser101Ser Synonymous 4/48 - 1
3-164786936-AGA-GAG c.301_303delinsCTC p.Ser101Leu Missense 4/48 - 1
3-164786937-G-A c.302C>T p.Ser101Phe Missense 4/48 - 1
3-164786938-A-C c.301T>G p.Ser101Ala Missense 4/48 - 3
3-164786939-G-A c.300C>T p.Asp100Asp Synonymous 4/48 - 1
3-164786939-G-T c.300C>A p.Asp100Glu Missense 4/48 - 1
3-164786939-G-C c.300C>G p.Asp100Glu Missense 4/48 - 1
3-164786939-AG-A c.300del p.Ser101Leufs*19 Frameshift 4/48 - 1
3-164786940-TC-AT c.298_299delinsAT p.Asp100Ile Missense 4/48 - 1
3-164786940-T-C c.299A>G p.Asp100Gly Missense 4/48 - 1
3-164786940-T-G c.299A>C p.Asp100Ala Missense 4/48 - 5
3-164786941-C-T c.298G>A p.Asp100Asn Missense 4/48 - 3
3-164786943-TT-GC c.295_296delinsGC p.Asn99Ala Missense 4/48 - 2
3-164786946-CA-GC c.292_293delinsGC p.Trp98Ala Missense 4/48 - 2
3-164786947-A-C c.292T>G p.Trp98Gly Missense 4/48 - 1
3-164786949-GG-TA c.289_290delinsTA p.Pro97* Nonsense 4/48 - 1
3-164786950-G-C c.289C>G p.Pro97Ala Missense 4/48 - 1
3-164786950-G-A c.289C>T p.Pro97Ser Missense 4/48 - 1
3-164786952-C-T c.287G>A p.Arg96Lys Missense 4/48 - 2
3-164786952-CT-GC c.286_287delinsGC p.Arg96Ala Missense 4/48 - 3
3-164786952-CT-CA c.286delinsT p.Arg96Trp Missense 4/48 - 1
3-164786953-T-C c.286A>G p.Arg96Gly Missense 4/48 - 1
3-164786954-C-A c.285G>T p.Trp95Cys Missense 4/48 - 1
3-164786954-C-G c.285G>C p.Trp95Cys Missense 4/48 - 1
3-164786957-G-A c.282C>T p.Cys94Cys Synonymous 4/48 - 1
3-164786958-C-A c.281G>T p.Cys94Phe Missense 4/48 - 2
3-164786958-CA-GC c.280_281delinsGC p.Cys94Ala Missense 4/48 - 1
3-164786958-C-G c.281G>C p.Cys94Ser Missense 4/48 - 2
3-164786959-A-T c.280T>A p.Cys94Ser Missense 4/48 - 2
3-164786959-A-C c.280T>G p.Cys94Gly Missense 4/48 - 1
3-164786960-G-T c.279C>A p.Cys93* Nonsense 4/48 - 1
3-164786960-GCA-AAG c.277_279delinsCTT p.Cys93Leu Missense 4/48 - 1
3-164786961-CA-GC c.277_278delinsGC p.Cys93Ala Missense 4/48 - 5
3-164786961-C-G c.278G>C p.Cys93Ser Missense 4/48 - 3
3-164786962-A-T c.277T>A p.Cys93Ser Missense 4/48 - 3
3-164786964-C-G c.275G>C p.Gly92Ala Missense 4/48 - 2
3-164786964-C-T c.275G>A p.Gly92Asp Missense 4/48 - 1
3-164786965-C-T c.274G>A p.Gly92Ser Missense 4/48 - 1
3-164786966-T-A c.273A>T p.Arg91Ser Missense 4/48 - 1
3-164786966-TCT-TGT c.272delinsC p.Arg91Thr Missense 4/48 - 3
3-164786966-TCT-GAC c.271_273delinsGTC p.Arg91Val Missense 4/48 - 2
3-164786966-TCT-TGG c.271_272delinsCC p.Arg91Pro Missense 4/48 - 4
3-164786966-T-G c.273A>C p.Arg91Ser Missense 4/48 - 1
3-164786967-C-T c.272G>A p.Arg91Lys Missense 4/48 - 1
3-164786967-CT-GC c.271_272delinsGC p.Arg91Ala Missense 4/48 - 4
3-164786968-T-C c.271A>G p.Arg91Gly Missense 4/48 - 2
3-164786969-TCT-T c.273_274del p.Gly92Leufs*8 Frameshift 4/48 - 2
3-164786970-TG-GC c.268_269delinsGC p.Gln90Ala Missense 4/48 - 2
3-164786970-T-G c.269A>C p.Gln90Pro Missense 4/48 - 1
3-164786970-TG-TC c.268delinsG p.Gln90Glu Missense 4/48 - 1
3-164786971-G-A c.268C>T p.Gln90* Nonsense 4/48 - 1
3-164786972-TGC-TGT c.265delinsA p.Ala89Thr Missense 4/48 - 1
3-164786972-TG-AC c.266_267delinsGT p.Ala89Gly Missense 4/48 - 3
3-164786972-TGC-TTT c.265_266delinsAA p.Ala89Lys Missense 4/48 - 2
3-164786972-T-A c.267A>T p.Ala89Ala Synonymous 4/48 - 1
3-164786972-T-G c.267A>C p.Ala89Ala Synonymous 4/48 - 1
3-164786972-T-C c.267A>G p.Ala89Ala Synonymous 4/48 - 1
3-164786973-GC-AA c.265_266delinsTT p.Ala89Leu Missense 4/48 - 1
3-164786973-GC-AT c.265_266delinsAT p.Ala89Ile Missense 4/48 - 1
3-164786974-C-T c.265G>A p.Ala89Thr Missense 4/48 - 1
3-164786974-C-G c.265G>C p.Ala89Pro Missense 4/48 - 1
3-164786975-ACA-AAG c.262_263delinsCT p.Cys88Leu Missense 4/48 - 1
3-164786976-CA-AC c.262_263delinsGT p.Cys88Val Missense 4/48 - 1
3-164786976-C-A c.263G>T p.Cys88Phe Missense 4/48 - 1
3-164786976-CA-GC c.262_263delinsGC p.Cys88Ala Missense 4/48 - 2
3-164786977-A-T c.262T>A p.Cys88Ser Missense 4/48 - 2
3-164786977-A-C c.262T>G p.Cys88Gly Missense 4/48 - 1
3-164786976-C-G c.263G>C p.Cys88Ser Missense 4/48 - 2
3-164786979-A-G c.260T>C p.Ile87Thr Missense 4/48 - 2
3-164786979-AT-GC c.259_260delinsGC p.Ile87Ala Missense 4/48 - 1
3-164786980-T-C c.259A>G p.Ile87Val Missense 4/48 - 1
3-164786981-TCC-AGC c.257_258delinsCT p.Gly86Ala Missense 4/48 - 1
3-164786982-C-A c.257G>T p.Gly86Val Missense 4/48 - 1
3-164786982-C-G c.257G>C p.Gly86Ala Missense 4/48 - 3
3-164786983-C-T c.256G>A p.Gly86Arg Missense 4/48 - 1
3-164786983-C-G c.256G>C p.Gly86Arg Missense 4/48 - 1
3-164792319-C-G c.255G>C p.Glu85Asp Missense 3/48 - 2
3-164792319-C-A c.255G>T p.Glu85Asp Missense 3/48 - 2
3-164792319-CTC-TTT c.253_255delinsAAA p.Glu85Lys Missense 3/48 - 2
3-164792320-T-G c.254A>C p.Glu85Ala Missense 3/48 - 4
3-164792321-C-T c.253G>A p.Glu85Lys Missense 3/48 - 3
3-164792323-TG-T c.251del p.Thr84Lysfs*36 Frameshift 3/48 - 1
3-164792326-G-A c.248C>T p.Pro83Leu Missense 3/48 - 2
3-164792327-G-A c.247C>T p.Pro83Ser Missense 3/48 - 3
3-164792328-G-A c.246C>T p.Phe82Phe Synonymous 3/48 - 1
3-164792329-AA-GG c.244_245delinsCC p.Phe82Pro Missense 3/48 - 1
3-164792329-A-C c.245T>G p.Phe82Cys Missense 3/48 - 1
3-164792330-A-T c.244T>A p.Phe82Ile Missense 3/48 - 1
3-164792331-TTG-TGT c.241_242delinsAC p.Gln81Thr Missense 3/48 - 1
3-164792332-T-A c.242A>T p.Gln81Leu Missense 3/48 - 2
3-164792332-TG-AT c.241_242delinsAT p.Gln81Ile Missense 3/48 - 1
3-164792334-TTC-TGT c.238_239delinsAC p.Glu80Thr Missense 3/48 - 1
3-164792334-T-G c.240A>C p.Glu80Asp Missense 3/48 - 1
3-164792334-T-A c.240A>T p.Glu80Asp Missense 3/48 - 1
3-164792335-T-G c.239A>C p.Glu80Ala Missense 3/48 - 1
3-164792336-TCTGGAATGCAGTTTATTCTCACATT-T c.216_240del p.Val73Asnfs*39 Frameshift 3/48 - 1
3-164792344-C-T c.230G>A p.Cys77Tyr Missense 3/48 - 1
3-164792344-CA-AC c.229_230delinsGT p.Cys77Val Missense 3/48 - 2
3-164792344-CA-GC c.229_230delinsGC p.Cys77Ala Missense 3/48 - 3
3-164792344-CA-GT c.229_230delinsAC p.Cys77Thr Missense 3/48 - 1
3-164792345-A-T c.229T>A p.Cys77Ser Missense 3/48 - 1
3-164792345-A-C c.229T>G p.Cys77Gly Missense 3/48 - 2
3-164792344-C-G c.230G>C p.Cys77Ser Missense 3/48 - 1
3-164792347-TT-GC c.226_227delinsGC p.Asn76Ala Missense 3/48 - 1
3-164792348-T-A c.226A>T p.Asn76Tyr Missense 3/48 - 1
3-164792350-AT-GC c.223_224delinsGC p.Ile75Ala Missense 3/48 - 2
3-164792351-T-G c.223A>C p.Ile75Leu Missense 3/48 - 1
3-164792351-T-A c.223A>T p.Ile75Leu Missense 3/48 - 1
3-164792352-TCT-TGT c.221delinsC p.Arg74Thr Missense 3/48 - 2
3-164792353-CT-GC c.220_221delinsGC p.Arg74Ala Missense 3/48 - 5
3-164792353-CT-GA c.220_221delinsTC p.Arg74Ser Missense 3/48 - 1
3-164792353-C-T c.221G>A p.Arg74Lys Missense 3/48 - 1
3-164792353-CT-CC c.220delinsG p.Arg74Gly Missense 3/48 - 2
3-164792354-T-C c.220A>G p.Arg74Gly Missense 3/48 - 1
3-164792355-CAC-ATC c.218_219delinsAT p.Val73Asp Missense 3/48 - 1
3-164792355-CA-AC c.218_219delinsGT p.Val73Gly Missense 3/48 - 1
3-164792360-T-C c.214A>G p.Asn72Asp Missense 3/48 - 1
3-164792361-GA-AG c.212_213delinsCT p.Val71Ala Missense 3/48 - 1
3-164792361-GAC-ATG c.211_213delinsCAT p.Val71His Missense 3/48 - 1
3-164792362-AC-TG c.211_212delinsCA p.Val71His Missense 3/48 - 1
3-164792363-C-T c.211G>A p.Val71Ile Missense 3/48 - 1
3-164792366-G-C c.208C>G p.Pro70Ala Missense 3/48 - 4
3-164792366-G-T c.208C>A p.Pro70Thr Missense 3/48 - 2
3-164792367-A-G c.207T>C p.Asp69Asp Synonymous 3/48 - 2
3-164792371-TT-TG c.202delinsC p.Asn68His Missense 3/48 - 1
3-164792371-TT-GC c.202_203delinsGC p.Asn68Ala Missense 3/48 - 1
3-164792372-T-G c.202A>C p.Asn68His Missense 3/48 - 2
3-164792372-T-C c.202A>G p.Asn68Asp Missense 3/48 - 5
3-164792373-TA-GG c.200_201delinsCC p.Leu67Ser Missense 3/48 - 1
3-164792373-T-G c.201A>C p.Leu67Phe Missense 3/48 - 1
3-164792373-T-A c.201A>T p.Leu67Phe Missense 3/48 - 1
3-164792374-AA-AG c.199delinsC p.Leu67Leu Missense 3/48 - 2
3-164792374-AA-GC c.199_200delinsGC p.Leu67Ala Missense 3/48 - 1
3-164792376-CAC-TGT c.196_198delinsACA p.Val66Thr Missense 3/48 - 1
3-164792376-CAC-AAC c.198delinsT p.Val66Val Missense 3/48 - 1
3-164792376-CA-AC c.197_198delinsGT p.Val66Gly Missense 3/48 - 5
3-164792377-AC-CA c.196_197delinsTG p.Val66Trp Missense 3/48 - 1
3-164792377-AC-AA c.196delinsT p.Val66Leu Missense 3/48 - 1
3-164792377-A-G c.197T>C p.Val66Ala Missense 3/48 - 3
3-164792377-A-T c.197T>A p.Val66Glu Missense 3/48 - 2
3-164792378-C-T c.196G>A p.Val66Met Missense 3/48 - 1
3-164792380-T-C c.194A>G p.Asn65Ser Missense 3/48 - 1
3-164792381-T-G c.193A>C p.Asn65His Missense 3/48 - 1
3-164792383-G-C c.191C>G p.Pro64Arg Missense 3/48 - 1
3-164792384-G-C c.190C>G p.Pro64Ala Missense 3/48 - 1
3-164792386-C-T c.188G>A p.Cys63Tyr Missense 3/48 - 1
3-164792386-CA-GC c.187_188delinsGC p.Cys63Ala Missense 3/48 - 1
3-164792386-CA-GT c.187_188delinsAC p.Cys63Thr Missense 3/48 - 1
3-164792386-C-G c.188G>C p.Cys63Ser Missense 3/48 - 1
3-164792387-A-C c.187T>G p.Cys63Gly Missense 3/48 - 1
3-164792388-T-G c.186A>C p.Lys62Asn Missense 3/48 - 1
3-164792388-T-A c.186A>T p.Lys62Asn Missense 3/48 - 1
3-164792388-TTT-TGT c.185delinsC p.Lys62Thr Missense 3/48 - 1
3-164792389-TT-GC c.184_185delinsGC p.Lys62Ala Missense 3/48 - 2
3-164792390-T-C c.184A>G p.Lys62Glu Missense 3/48 - 2
3-164792392-CC-CT c.181delinsA p.Gly61Arg Missense 3/48 - 1
3-164792392-C-G c.182G>C p.Gly61Ala Missense 3/48 - 1
3-164792392-C-A c.182G>T p.Gly61Val Missense 3/48 - 1
3-164792394-TG-GT c.179_180delinsAC p.Ser60Tyr Missense 3/48 - 1
3-164792395-GA-AG c.178_179delinsCT p.Ser60Leu Missense 3/48 - 1
3-164792396-A-C c.178T>G p.Ser60Ala Missense 3/48 - 3
3-164792397-ATC-CAA c.175_177delinsTTG p.Asp59Leu Missense 3/48 - 1
3-164792397-A-T c.177T>A p.Asp59Glu Missense 3/48 - 2
3-164792397-A-C c.177T>G p.Asp59Glu Missense 3/48 - 2
3-164792398-T-G c.176A>C p.Asp59Ala Missense 3/48 - 5
3-164792398-TC-TG c.175delinsC p.Asp59His Missense 3/48 - 2
3-164792398-TC-AG c.175_176delinsCT p.Asp59Leu Missense 3/48 - 1
3-164792399-C-G c.175G>C p.Asp59His Missense 3/48 - 1
3-164792401-GA-CG c.172_173delinsCG p.Ser58Arg Missense 3/48 - 3
3-164792402-A-C c.172T>G p.Ser58Ala Missense 3/48 - 2
3-164792404-G-A c.170C>T p.Pro57Leu Missense 3/48 - 1
3-164792406-ATT-GAG c.166_168delinsCTC p.Asn56Leu Missense 3/48 - 2
3-164792412-AG-TG c.162delinsA p.Thr54Thr Missense 3/48 - 1
3-164792412-A-T c.162T>A p.Thr54Thr Synonymous 3/48 - 1
3-164792412-A-G c.162T>C p.Thr54Thr Synonymous 3/48 - 1
3-164792412-A-C c.162T>G p.Thr54Thr Synonymous 3/48 - 1
3-164792412-AG-GG c.162delinsC p.Thr54Thr Missense 3/48 - 1
3-164792413-GT-TG c.160_161delinsCA p.Thr54His Missense 3/48 - 1
3-164792413-GT-GA c.160delinsT p.Thr54Ser Missense 3/48 - 1
3-164792414-T-C c.160A>G p.Thr54Ala Missense 3/48 - 2
3-164792416-A-G c.158T>C p.Val53Ala Missense 3/48 - 2
3-164792418-AC-AA c.155delinsT p.Arg52Leu Missense 3/48 - 2
3-164792419-C-T c.155G>A p.Arg52His Missense 3/48 - 2
3-164792419-CG-GC c.154_155delinsGC p.Arg52Ala Missense 3/48 - 5
3-164792421-AGT-TGG c.151_153delinsCCA p.Thr51Pro Missense 3/48 - 1
3-164792422-GT-TA c.151_152delinsTA p.Thr51Tyr Missense 3/48 - 1
3-164792422-GT-TT c.152delinsA p.Thr51Asn Missense 3/48 - 1
3-164792424-AG-TG c.150delinsA p.Thr50Thr Missense 3/48 - 1
3-164792425-G-C c.149C>G p.Thr50Ser Missense 3/48 - 2
3-164792425-G-A c.149C>T p.Thr50Ile Missense 3/48 - 1
3-164792426-T-A c.148A>T p.Thr50Ser Missense 3/48 - 2
3-164792425-GT-TG c.148_149delinsCA p.Thr50His Missense 3/48 - 1
3-164792426-T-C c.148A>G p.Thr50Ala Missense 3/48 - 3
3-164792428-GC-CG c.145_146delinsCG p.Ala49Arg Missense 3/48 - 1
3-164792428-G-T c.146C>A p.Ala49Asp Missense 3/48 - 3
3-164792428-G-C c.146C>G p.Ala49Gly Missense 3/48 - 3
3-164792428-GC-TG c.145_146delinsCA p.Ala49His Missense 3/48 - 1
3-164792430-TG-AT c.143_144delinsAT p.Pro48His Missense 3/48 - 1
3-164792431-G-A c.143C>T p.Pro48Leu Missense 3/48 - 2
3-164792432-G-A c.142C>T p.Pro48Ser Missense 3/48 - 2
3-164792434-GT-GA c.139delinsT p.Thr47Ser Missense 3/48 - 134
3-164792434-G-C c.140C>G p.Thr47Ser Missense 3/48 - 1
3-164792435-T-A c.139A>T p.Thr47Ser Missense 3/48 - 1
3-164792434-GT-TG c.139_140delinsCA p.Thr47His Missense 3/48 - 1
3-164792434-G-A c.140C>T p.Thr47Ile Missense 3/48 - 1
3-164792435-T-C c.139A>G p.Thr47Ala Missense 3/48 - 2
3-164792438-A-C c.136T>G p.Ser46Ala Missense 3/48 - 3
3-164792438-A-G c.136T>C p.Ser46Pro Missense 3/48 - 1
3-164792439-AGT-TGG c.133_135delinsCCA p.Thr45Pro Missense 3/48 - 1
3-164792439-AG-TG c.135delinsA p.Thr45Thr Missense 3/48 - 1
3-164792441-T-A c.133A>T p.Thr45Ser Missense 3/48 - 1
3-164792440-GT-CA c.133_134delinsTG p.Thr45Cys Missense 3/48 - 1
3-164792440-G-A c.134C>T p.Thr45Ile Missense 3/48 - 2
3-164792440-GT-TG c.133_134delinsCA p.Thr45His Missense 3/48 - 2
3-164792440-G-C c.134C>G p.Thr45Ser Missense 3/48 - 1
3-164792442-AGA-GAG c.130_132delinsCTC p.Ser44Leu Missense 3/48 - 1
3-164792443-G-C c.131C>G p.Ser44Cys Missense 3/48 - 1
3-164792444-A-C c.130T>G p.Ser44Ala Missense 3/48 - 5
3-164792445-A-G c.129T>C p.Asp43Asp Synonymous 3/48 - 1
3-164792446-T-G c.128A>C p.Asp43Ala Missense 3/48 - 3
3-164792446-TC-TG c.127delinsC p.Asp43His Missense 3/48 - 1
3-164792447-C-A c.127G>T p.Asp43Tyr Missense 3/48 - 1
3-164792447-C-T c.127G>A p.Asp43Asn Missense 3/48 - 2
3-164792448-A-G c.126T>C p.Ser42Ser Synonymous 3/48 - 1
3-164792448-ACT-GAG c.124_126delinsCTC p.Ser42Leu Missense 3/48 - 1
3-164792449-C-G c.125G>C p.Ser42Thr Missense 3/48 - 1
3-164792449-CT-GC c.124_125delinsGC p.Ser42Ala Missense 3/48 - 2
3-164792450-T-C c.124A>G p.Ser42Gly Missense 3/48 - 1
3-164792451-AAT-GAG c.121_123delinsCTC p.Ile41Leu Missense 3/48 - 1
3-164792454-T-G c.120A>C p.Glu40Asp Missense 3/48 - 2
3-164792454-T-A c.120A>T p.Glu40Asp Missense 3/48 - 2
3-164792455-T-G c.119A>C p.Glu40Ala Missense 3/48 - 3
3-164793683-C-T c.118G>A p.Glu40Lys Missense 2/48 - 4
3-164793684-ATC-TAA c.115_117delinsTTA p.Asp39Leu Nonsense 2/48 - 1
3-164793685-TC-TT c.115delinsA p.Asp39Asn Missense 2/48 - 1
3-164793685-T-G c.116A>C p.Asp39Ala Missense 2/48 - 6
3-164793686-C-T c.115G>A p.Asp39Asn Missense 2/48 - 1
3-164793687-AA-AG c.113delinsC p.Val38Ala Missense 2/48 - 5
3-164793688-AC-AG c.112delinsC p.Val38Leu Missense 2/48 - 1
3-164793688-A-G c.113T>C p.Val38Ala Missense 2/48 - 6
3-164793689-C-T c.112G>A p.Val38Ile Missense 2/48 - 1
3-164793690-A-T c.111T>A p.Ala37Ala Synonymous 2/48 - 1
3-164793690-A-G c.111T>C p.Ala37Ala Synonymous 2/48 - 1
3-164793690-A-C c.111T>G p.Ala37Ala Synonymous 2/48 - 1
3-164793691-G-T c.110C>A p.Ala37Asp Missense 2/48 - 2
3-164793691-GC-TG c.109_110delinsCA p.Ala37His Missense 2/48 - 2
3-164793691-G-C c.110C>G p.Ala37Gly Missense 2/48 - 4
3-164793691-GC-CT c.109_110delinsAG p.Ala37Ser Missense 2/48 - 1
3-164793694-G-C c.107C>G p.Pro36Arg Missense 2/48 - 1
3-164793697-G-A c.104C>T p.Thr35Ile Missense 2/48 - 2
3-164793698-T-G c.103A>C p.Thr35Pro Missense 2/48 - 1
3-164793698-T-A c.103A>T p.Thr35Ser Missense 2/48 - 11
3-164793698-T-C c.103A>G p.Thr35Ala Missense 2/48 - 5
3-164793700-TT-GC c.100_101delinsGC p.Lys34Ala Missense 2/48 - 2
3-164793700-TT-GT c.101delinsC p.Lys34Thr Missense 2/48 - 1
3-164793700-T-G c.101A>C p.Lys34Thr Missense 2/48 - 1
3-164793701-T-G c.100A>C p.Lys34Gln Missense 2/48 - 1
3-164793703-GT-TG c.97_98delinsCA p.Thr33His Missense 2/48 - 1
3-164793704-T-C c.97A>G p.Thr33Ala Missense 2/48 - 3
3-164793705-TGC-AAC c.95_96delinsTT p.Ala32Val Missense 2/48 - 2
3-164793705-TGC-CAT c.94_96delinsATG p.Ala32Met Missense 2/48 - 1
3-164793705-TGC-TGG c.94delinsC p.Ala32Pro Missense 2/48 - 2
3-164793705-TGC-TGT c.94delinsA p.Ala32Thr Missense 2/48 - 2
3-164793705-TG-AC c.95_96delinsGT p.Ala32Gly Missense 2/48 - 5
3-164793705-TGC-TAT c.94_95delinsAT p.Ala32Ile Missense 2/48 - 2
3-164793705-T-C c.96A>G p.Ala32Ala Synonymous 2/48 - 4
3-164793705-T-A c.96A>T p.Ala32Ala Synonymous 2/48 - 4
3-164793705-T-G c.96A>C p.Ala32Ala Synonymous 2/48 - 4
3-164793705-TGC-TTT c.94_95delinsAA p.Ala32Lys Missense 2/48 - 2
3-164793706-GC-AT c.94_95delinsAT p.Ala32Ile Missense 2/48 - 1
3-164793706-G-C c.95C>G p.Ala32Gly Missense 2/48 - 2
3-164793706-GC-AG c.94_95delinsCT p.Ala32Leu Missense 2/48 - 1
3-164793706-G-T c.95C>A p.Ala32Glu Missense 2/48 - 2
3-164793708-TA-GG c.92_93delinsCC p.Leu31Ser Missense 2/48 - 1
3-164793709-AA-GC c.91_92delinsGC p.Leu31Ala Missense 2/48 - 1
3-164793709-AA-GG c.91_92delinsCC p.Leu31Pro Missense 2/48 - 1
3-164793709-AA-GA c.92delinsC p.Leu31Ser Missense 2/48 - 2
3-164793711-AAC-ATG c.88_89delinsCA p.Val30His Missense 2/48 - 12
3-164793712-A-G c.89T>C p.Val30Ala Missense 2/48 - 1
3-164793715-A-G c.86T>C p.Val29Ala Missense 2/48 - 1
3-164793715-AC-CA c.85_86delinsTG p.Val29Cys Missense 2/48 - 1
3-164793715-AC-TA c.85_86delinsTA p.Val29Tyr Missense 2/48 - 1
3-164793715-AC-TG c.85_86delinsCA p.Val29His Missense 2/48 - 1
3-164793716-C-G c.85G>C p.Val29Leu Missense 2/48 - 1
3-164793716-C-T c.85G>A p.Val29Ile Missense 2/48 - 2
3-164793716-C-A c.85G>T p.Val29Phe Missense 2/48 - 1
3-164793718-AT-GG c.82_83delinsCC p.Ile28Pro Missense 2/48 - 1
3-164793718-AT-GC c.82_83delinsGC p.Ile28Ala Missense 2/48 - 5
3-164793718-A-C c.83T>G p.Ile28Ser Missense 2/48 - 1
3-164793718-A-G c.83T>C p.Ile28Thr Missense 2/48 - 1
3-164793718-A-T c.83T>A p.Ile28Asn Missense 2/48 - 1
3-164793719-T-C c.82A>G p.Ile28Val Missense 2/48 - 3
3-164793719-T-G c.82A>C p.Ile28Leu Missense 2/48 - 1
3-164793720-T-G c.81A>C p.Leu27Phe Missense 2/48 - 1
3-164793720-T-A c.81A>T p.Leu27Phe Missense 2/48 - 1
3-164793720-TA-GT c.80_81delinsAC p.Leu27Tyr Missense 2/48 - 1
3-164793720-TA-GG c.80_81delinsCC p.Leu27Ser Missense 2/48 - 1
3-164793720-TAA-GAC c.79_81delinsGTC p.Leu27Val Missense 2/48 - 3
3-164793721-AA-AG c.79delinsC p.Leu27Leu Missense 2/48 - 1
3-164793721-A-G c.80T>C p.Leu27Ser Missense 2/48 - 1
3-164793723-G-C c.78C>G p.Ala26Ala Synonymous 2/48 - 1
3-164793723-G-T c.78C>A p.Ala26Ala Synonymous 2/48 - 1
3-164793723-G-A c.78C>T p.Ala26Ala Synonymous 2/48 - 1
3-164793723-GGC-AAG c.76_78delinsCTT p.Ala26Leu Missense 2/48 - 1
3-164793724-GC-CT c.76_77delinsAG p.Ala26Ser Missense 2/48 - 1
3-164793724-GC-TG c.76_77delinsCA p.Ala26His Missense 2/48 - 1
3-164793724-GC-TT c.76_77delinsAA p.Ala26Asn Missense 2/48 - 1
3-164793724-G-C c.77C>G p.Ala26Gly Missense 2/48 - 2
3-164793724-G-A c.77C>T p.Ala26Val Missense 2/48 - 1
3-164793725-C-T c.76G>A p.Ala26Thr Missense 2/48 - 4
3-164793726-AA-GG c.74_75delinsCC p.Ile25Thr Missense 2/48 - 1
3-164793727-AT-GC c.73_74delinsGC p.Ile25Ala Missense 2/48 - 3
3-164793727-AT-TG c.73_74delinsCA p.Ile25His Missense 2/48 - 1
3-164793729-A-T c.72T>A p.Ala24Ala Synonymous 2/48 - 1
3-164793729-A-C c.72T>G p.Ala24Ala Synonymous 2/48 - 1
3-164793729-A-G c.72T>C p.Ala24Ala Synonymous 2/48 - 1
3-164793730-GC-CA c.70_71delinsTG p.Ala24Cys Missense 2/48 - 1
3-164793730-G-T c.71C>A p.Ala24Asp Missense 2/48 - 1
3-164793730-G-A c.71C>T p.Ala24Val Missense 2/48 - 1
3-164793730-GC-TG c.70_71delinsCA p.Ala24His Missense 2/48 - 6
3-164793730-GC-TT c.70_71delinsAA p.Ala24Asn Missense 2/48 - 2
3-164793731-C-T c.70G>A p.Ala24Thr Missense 2/48 - 1
3-164793731-GC-G c.70del p.Ala24Leufs*4 Frameshift 2/48 - 1
3-164793732-TAT-GAC c.67_69delinsGTC p.Ile23Val Missense 2/48 - 1
3-164793733-AT-GG c.67_68delinsCC p.Ile23Pro Missense 2/48 - 1
3-164793733-AT-GC c.67_68delinsGC p.Ile23Ala Missense 2/48 - 1
3-164793734-T-C c.67A>G p.Ile23Val Missense 2/48 - 1
3-164793735-TAT-TTT c.65delinsA p.Ile22Lys Missense 2/48 - 2
3-164793735-TAT-GAC c.64_66delinsGTC p.Ile22Val Missense 2/48 - 1
3-164793735-TA-AC c.65_66delinsGT p.Ile22Ser Missense 2/48 - 1
3-164793736-AT-GA c.64_65delinsTC p.Ile22Ser Missense 2/48 - 1
3-164793736-AT-GC c.64_65delinsGC p.Ile22Ala Missense 2/48 - 1
3-164793736-A-G c.65T>C p.Ile22Thr Missense 2/48 - 1
3-164793737-T-A c.64A>T p.Ile22Leu Missense 2/48 - 1
3-164793737-T-C c.64A>G p.Ile22Val Missense 2/48 - 3
3-164793737-T-G c.64A>C p.Ile22Leu Missense 2/48 - 1
3-164793738-AGT-CAA c.61_63delinsTTG p.Thr21Leu Missense 2/48 - 1
3-164793739-GT-TG c.61_62delinsCA p.Thr21His Missense 2/48 - 1
3-164793739-G-T c.62C>A p.Thr21Asn Missense 2/48 - 5
3-164793740-T-C c.61A>G p.Thr21Ala Missense 2/48 - 2
3-164793742-AC-AG c.58delinsC p.Val20Leu Missense 2/48 - 1
3-164793742-A-T c.59T>A p.Val20Asp Missense 2/48 - 1
3-164793742-A-C c.59T>G p.Val20Gly Missense 2/48 - 2
3-164793742-A-G c.59T>C p.Val20Ala Missense 2/48 - 1
3-164793743-C-T c.58G>A p.Val20Ile Missense 2/48 - 1
3-164793744-T-G c.57A>C p.Ile19Ile Synonymous 2/48 - 1
3-164793744-T-A c.57A>T p.Ile19Ile Synonymous 2/48 - 1
3-164793744-TAT-TTT c.56delinsA p.Ile19Lys Missense 2/48 - 1
3-164793744-TA-AC c.56_57delinsGT p.Ile19Ser Missense 2/48 - 1
3-164793745-AT-GC c.55_56delinsGC p.Ile19Ala Missense 2/48 - 2
3-164793745-A-C c.56T>G p.Ile19Arg Missense 2/48 - 1
3-164793746-T-G c.55A>C p.Ile19Leu Missense 2/48 - 2
3-164793746-T-A c.55A>T p.Ile19Leu Missense 2/48 - 2
3-164793747-GAC-ATG c.52_54delinsCAT p.Val18His Missense 2/48 - 2
3-164793747-GAC-TAA c.52_54delinsTTA p.Val18Leu Nonsense 2/48 - 1
3-164793748-AC-CC c.53delinsG p.Val18Gly Missense 2/48 - 1
3-164793748-AC-AA c.52delinsT p.Val18Phe Missense 2/48 - 1
3-164793748-AC-TG c.52_53delinsCA p.Val18His Missense 2/48 - 1
3-164793748-A-G c.53T>C p.Val18Ala Missense 2/48 - 2
3-164793751-AA-GC c.49_50delinsGC p.Phe17Ala Missense 2/48 - 2
3-164793751-AA-CG c.49_50delinsCG p.Phe17Arg Missense 2/48 - 1
3-164793751-AA-GA c.50delinsC p.Phe17Ser Missense 2/48 - 1
3-164793754-A-C c.47T>G p.Leu16Arg Missense 2/48 - 1
3-164793754-A-G c.47T>C p.Leu16Pro Missense 2/48 - 2
3-164793754-AG-TG c.47delinsA p.Leu16His Missense 2/48 - 5
3-164793754-A-AA c.51dup p.Val18Cysfs*17 Frameshift 2/48 - 1
3-164793754-AG-GC c.46_47delinsGC p.Leu16Ala Missense 2/48 - 2
3-164793755-G-T c.46C>A p.Leu16Ile Missense 2/48 - 1
3-164793755-G-A c.46C>T p.Leu16Phe Missense 2/48 - 1
3-164793756-GAC-ATG c.43_45delinsCAT p.Val15His Missense 2/48 - 2
3-164793757-AC-CC c.44delinsG p.Val15Gly Missense 2/48 - 2
3-164793757-A-G c.44T>C p.Val15Ala Missense 2/48 - 2
3-164793758-C-T c.43G>A p.Val15Ile Missense 2/48 - 8
3-164793758-C-A c.43G>T p.Val15Phe Missense 2/48 - 5
3-164793759-AAT-GAG c.40_42delinsCTC p.Ile14Leu Missense 2/48 - 1
3-164793759-A-C c.42T>G p.Ile14Met Missense 2/48 - 1
3-164793760-AT-GC c.40_41delinsGC p.Ile14Ala Missense 2/48 - 3
3-164793760-AT-GG c.40_41delinsCC p.Ile14Pro Missense 2/48 - 2
3-164793761-T-C c.40A>G p.Ile14Val Missense 2/48 - 2
3-164793762-CAG-ATC c.37_39delinsGAT p.Leu13Asp Missense 2/48 - 2
3-164793762-CA-AT c.38_39delinsAT p.Leu13His Missense 2/48 - 1
3-164793762-CAG-TTT c.37_39delinsAAA p.Leu13Lys Missense 2/48 - 1
3-164793762-CAG-TGT c.37_39delinsACA p.Leu13Thr Missense 2/48 - 1
3-164793763-AG-GC c.37_38delinsGC p.Leu13Ala Missense 2/48 - 16
3-164793763-A-G c.38T>C p.Leu13Pro Missense 2/48 - 1
3-164793763-AG-GA c.37_38delinsTC p.Leu13Ser Missense 2/48 - 4
3-164793763-AG-GG c.38delinsC p.Leu13Pro Missense 2/48 - 1
3-164793764-G-C c.37C>G p.Leu13Val Missense 2/48 - 2
3-164793765-A-T c.36T>A p.Ser12Ser Synonymous 2/48 - 1
3-164793765-A-G c.36T>C p.Ser12Ser Synonymous 2/48 - 1
3-164793765-A-C c.36T>G p.Ser12Ser Synonymous 2/48 - 1
3-164793765-AGA-ATG c.34_35delinsCA p.Ser12His Missense 2/48 - 1
3-164793765-AGA-GAG c.34_36delinsCTC p.Ser12Leu Missense 2/48 - 8
3-164793765-AGA-AAG c.34_35delinsCT p.Ser12Leu Missense 2/48 - 1
3-164793766-GA-CG c.34_35delinsCG p.Ser12Arg Missense 2/48 - 1
3-164793766-GA-CA c.35delinsG p.Ser12Cys Missense 2/48 - 1
3-164793766-GA-CT c.34_35delinsAG p.Ser12Ser Missense 2/48 - 1
3-164793766-GA-AT c.34_35delinsAT p.Ser12Ile Missense 2/48 - 3
3-164793766-G-A c.35C>T p.Ser12Phe Missense 2/48 - 3
3-164793766-G-C c.35C>G p.Ser12Cys Missense 2/48 - 27
3-164793766-GA-GG c.34delinsC p.Ser12Pro Missense 2/48 - 4
3-164793767-A-C c.34T>G p.Ser12Ala Missense 2/48 - 76
3-164793767-A-G c.34T>C p.Ser12Pro Missense 2/48 - 1
3-164793769-AT-GC c.31_32delinsGC p.Ile11Ala Missense 2/48 - 1
3-164793770-T-G c.31A>C p.Ile11Leu Missense 2/48 - 1
3-164793771-TTC-TGT c.28_29delinsAC p.Glu10Thr Missense 2/48 - 1
3-164793771-T-G c.30A>C p.Glu10Asp Missense 2/48 - 1
3-164793771-T-A c.30A>T p.Glu10Asp Missense 2/48 - 1
3-164793772-T-G c.29A>C p.Glu10Ala Missense 2/48 - 1
3-164793772-TC-AT c.28_29delinsAT p.Glu10Ile Missense 2/48 - 1
3-164793789-C-G c.12G>C p.Lys4Asn Missense 2/48 - 1
3-164793792-T-C c.9A>G p.Arg3Arg Synonymous 2/48 - 7
3-164793798-C-T c.3G>A p.Met1? Missense 2/48 - 1
3-164793799-A-C c.2T>G p.Met1? Missense 2/48 - 1
3-164793849-A-G c.1-49T>C - IntronicSNV - 1/47 1