ALK ALK receptor tyrosine kinase

Canonical transcript: NM_004304

1156 unique variant annotations were identified in 1271 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
2-29415979-G-A c.*111C>T - 3-UTRSNV 29/29 - 1
2-29416092-A-G c.4861T>C p.*1621Argext*41 Missense 29/29 - 1
2-29416124-TT-GC c.4828_4829delinsGC p.Lys1610Ala Missense 29/29 - 1
2-29416133-G-A c.4820C>T p.Thr1607Ile Missense 29/29 - 1
2-29416141-G-T c.4812C>A p.Tyr1604* Nonsense 29/29 - 1
2-29416157-G-T c.4796C>A p.Pro1599His Missense 29/29 - 2
2-29416181-A-G c.4772T>C p.Leu1591Ser Missense 29/29 - 1
2-29416202-T-A c.4751A>T p.Tyr1584Phe Missense 29/29 - 1
2-29416205-TT-GC c.4747_4748delinsGC p.Asn1583Ala Missense 29/29 - 1
2-29416255-C-A c.4698G>T p.Met1566Ile Missense 29/29 - 1
2-29416255-C-G c.4698G>C p.Met1566Ile Missense 29/29 - 1
2-29416255-C-T c.4698G>A p.Met1566Ile Missense 29/29 - 1
2-29416286-A-AT c.4666_4667insA p.Leu1556Hisfs*59 Frameshift 29/29 - 1
2-29416298-C-G c.4655G>C p.Gly1552Ala Missense 29/29 - 1
2-29416320-C-T c.4633G>A p.Val1545Ile Missense 29/29 - 1
2-29416324-A-AA c.4629dup p.Asn1544* Nonsense 29/29 - 1
2-29416326-G-A c.4627C>T p.Pro1543Ser Missense 29/29 - 3
2-29416349-A-T c.4604T>A p.Leu1535Gln Missense 29/29 - 1
2-29416366-G-C c.4587C>G p.Asp1529Glu Missense 29/29 - 20
2-29416380-T-C c.4573A>G p.Lys1525Glu Missense 29/29 - 3
2-29416399-C-A c.4554G>T p.Lys1518Asn Missense 29/29 - 1
2-29416399-C-G c.4554G>C p.Lys1518Asn Missense 29/29 - 1
2-29416416-C-T c.4537G>A p.Glu1513Lys Missense 29/29 - 1
2-29416433-T-A c.4520A>T p.Tyr1507Phe Missense 29/29 - 1
2-29416473-C-G c.4480G>C p.Gly1494Arg Missense 29/29 - 1
2-29416473-C-T c.4480G>A p.Gly1494Arg Missense 29/29 - 1
2-29416481-T-C c.4472A>G p.Lys1491Arg Missense 29/29 - 15
2-29416493-G-A c.4460C>T p.Ser1487Leu Missense 29/29 - 1
2-29416513-G-C c.4440C>G p.Phe1480Leu Missense 29/29 - 1
2-29416513-G-T c.4440C>A p.Phe1480Leu Missense 29/29 - 1
2-29416515-A-G c.4438T>C p.Phe1480Leu Missense 29/29 - 1
2-29416520-A-G c.4433T>C p.Met1478Thr Missense 29/29 - 2
2-29416523-TT-GC c.4429_4430delinsGC p.Asn1477Ala Missense 29/29 - 1
2-29416527-C-T c.4426G>A p.Val1476Met Missense 29/29 - 1
2-29416530-G-A c.4423C>T p.His1475Tyr Missense 29/29 - 1
2-29416532-C-T c.4421G>A p.Gly1474Glu Missense 29/29 - 2
2-29416535-C-T c.4418G>A p.Gly1473Glu Missense 29/29 - 1
2-29416542-C-A c.4411G>T p.Val1471Leu Missense 29/29 - 1
2-29416542-C-G c.4411G>C p.Val1471Leu Missense 29/29 - 1
2-29416544-G-A c.4409C>T p.Ala1470Val Missense 29/29 - 1
2-29416554-T-A c.4399A>T p.Arg1467* Nonsense 29/29 - 1
2-29416559-A-G c.4394T>C p.Val1465Ala Missense 29/29 - 1
2-29416565-A-G c.4388T>C p.Val1463Ala Missense 29/29 - 1
2-29416570-G-A c.4383C>T p.Ile1461Ile Synonymous 29/29 - 1
2-29416570-G-T c.4383C>A p.Ile1461Ile Synonymous 29/29 - 1
2-29416572-T-C c.4381A>G p.Ile1461Val Missense 29/29 - 23
2-29416575-C-G c.4378G>C p.Glu1460Gln Missense 29/29 - 1
2-29416578-C-G c.4375G>C p.Ala1459Pro Missense 29/29 - 1
2-29416589-TT-GC c.4363_4364delinsGC p.Lys1455Ala Missense 29/29 - 1
2-29416601-TT-GC c.4351_4352delinsGC p.Lys1451Ala Missense 29/29 - 1
2-29416607-G-T c.4346C>A p.Ser1449Tyr Missense 29/29 - 1
2-29416615-G-A c.4338C>T p.Thr1446Thr Synonymous 29/29 - 4
2-29416619-G-T c.4334C>A p.Pro1445His Missense 29/29 - 1
2-29416647-G-A c.4306C>T p.Arg1436Cys Missense 29/29 - 1
2-29416655-CTCC-C c.4303_4305del p.Glu1435del InFrameDeletion 29/29 - 3
2-29416667-T-C c.4286A>G p.Gln1429Arg Missense 29/29 - 2
2-29416668-G-A c.4285C>T p.Gln1429* Nonsense 29/29 - 2
2-29416694-C-T c.4259G>A p.Gly1420Glu Missense 29/29 - 1
2-29416698-C-A c.4255G>T p.Glu1419* Nonsense 29/29 - 1
2-29416698-C-G c.4255G>C p.Glu1419Gln Missense 29/29 - 1
2-29416698-C-T c.4255G>A p.Glu1419Lys Missense 29/29 - 3
2-29416705-C-A c.4248G>T p.Lys1416Asn Missense 29/29 - 2
2-29416717-CA-C c.4236del p.Val1413* Frameshift 29/29 - 1
2-29416721-A-G c.4232T>C p.Val1411Ala Missense 29/29 - 1
2-29416726-C-A c.4227G>T p.Glu1409Asp Missense 29/29 - 1
2-29416726-C-G c.4227G>C p.Glu1409Asp Missense 29/29 - 1
2-29416731-C-T c.4222G>A p.Glu1408Lys Missense 29/29 - 1
2-29416734-C-T c.4219G>A p.Glu1407Lys Missense 29/29 - 1
2-29416742-A-G c.4211T>C p.Leu1404Pro Missense 29/29 - 1
2-29416743-G-C c.4210C>G p.Leu1404Val Missense 29/29 - 2
2-29416753-T-A c.4200A>T p.Glu1400Asp Missense 29/29 - 1
2-29416753-T-G c.4200A>C p.Glu1400Asp Missense 29/29 - 1
2-29416763-A-G c.4190T>C p.Leu1397Ser Missense 29/29 - 1
2-29416767-C-T c.4186G>A p.Ala1396Thr Missense 29/29 - 1
2-29416769-G-A c.4184C>T p.Thr1395Ile Missense 29/29 - 1
2-29416772-T-A c.4181A>T p.Asn1394Ile Missense 29/29 - 1
2-29416794-G-A c.4165-6C>T - IntronicSNV - 28/28 3
2-29416833-A-G c.4165-45T>C - IntronicSNV - 28/28 1
2-29419591-G-T c.4164+45C>A - IntronicSNV - 28/28 1
2-29419650-C-T c.4150G>A p.Glu1384Lys Missense 28/29 - 5
2-29419654-C-G c.4146G>C p.Arg1382Ser Missense 28/29 - 1
2-29419662-A-C c.4138T>G p.Leu1380Val Missense 28/29 - 1
2-29419673-A-G c.4127T>C p.Phe1376Ser Missense 28/29 - 1
2-29419685-T-C c.4115A>G p.Asp1372Gly Missense 28/29 - 1
2-29419686-C-A c.4114G>T p.Asp1372Tyr Missense 28/29 - 1
2-29419686-C-G c.4114G>C p.Asp1372His Missense 28/29 - 1
2-29419686-C-T c.4114G>A p.Asp1372Asn Missense 28/29 - 1
2-29419721-C-T c.4079G>A p.Arg1360Gln Missense 28/29 - 2
2-29420409-C-T c.4072G>A p.Val1358Ile Missense 27/29 - 1
2-29420413-CCC-AGC c.4067_4068delinsCT p.Gly1356Ala Missense 27/29 - 1
2-29420420-C-A c.4061G>T p.Cys1354Phe Missense 27/29 - 1
2-29420422-G-C c.4059C>G p.Asn1353Lys Missense 27/29 - 1
2-29420422-G-T c.4059C>A p.Asn1353Lys Missense 27/29 - 1
2-29420436-C-G c.4045G>C p.Asp1349His Missense 27/29 - 4
2-29420441-C-T c.4040G>A p.Arg1347Gln Missense 27/29 - 3
2-29420453-G-A c.4028C>T p.Thr1343Ile Missense 27/29 - 4
2-29420462-T-C c.4019A>G p.Glu1340Gly Missense 27/29 - 1
2-29420475-G-A c.4006C>T p.Gln1336* Nonsense 27/29 - 2
2-29420476-G-C c.4005C>G p.Asn1335Lys Missense 27/29 - 1
2-29420476-G-T c.4005C>A p.Asn1335Lys Missense 27/29 - 1
2-29420492-T-C c.3989A>G p.Tyr1330Cys Missense 27/29 - 1
2-29420496-G-A c.3985C>T p.Pro1329Ser Missense 27/29 - 1
2-29420497-C-A c.3984G>T p.Met1328Ile Missense 27/29 - 1
2-29420497-C-G c.3984G>C p.Met1328Ile Missense 27/29 - 1
2-29420497-C-T c.3984G>A p.Met1328Ile Missense 27/29 - 1
2-29420499-T-A c.3982A>T p.Met1328Leu Missense 27/29 - 1
2-29420499-T-G c.3982A>C p.Met1328Leu Missense 27/29 - 1
2-29420504-C-G c.3977G>C p.Gly1326Ala Missense 27/29 - 1
2-29420512-A-C c.3969T>G p.Phe1323Leu Missense 27/29 - 1
2-29420512-A-T c.3969T>A p.Phe1323Leu Missense 27/29 - 1
2-29420514-A-G c.3967T>C p.Phe1323Leu Missense 27/29 - 1
2-29420515-G-C c.3966C>G p.Ile1322Met Missense 27/29 - 1
2-29420523-A-G c.3958T>C p.Trp1320Arg Missense 27/29 - 1
2-29420523-A-T c.3958T>A p.Trp1320Arg Missense 27/29 - 1
2-29420526-G-C c.3955C>G p.Leu1319Val Missense 27/29 - 1
2-29420542-C-A c.3939G>T p.Trp1313Cys Missense 27/29 - 1
2-29420542-C-G c.3939G>C p.Trp1313Cys Missense 27/29 - 1
2-29420550-T-C c.3939-8A>G - IntronicSNV - 26/28 1
2-29430042-G-C c.3933C>G p.Asp1311Glu Missense 26/29 - 1
2-29430042-G-T c.3933C>A p.Asp1311Glu Missense 26/29 - 1
2-29430043-T-G c.3932A>C p.Asp1311Ala Missense 26/29 - 1
2-29430044-C-T c.3931G>A p.Asp1311Asn Missense 26/29 - 1
2-29430046-G-A c.3929C>T p.Thr1310Ile Missense 26/29 - 1
2-29430047-T-C c.3928A>G p.Thr1310Ala Missense 26/29 - 1
2-29430052-G-T c.3923C>A p.Ser1308Tyr Missense 26/29 - 1
2-29430068-C-T c.3907G>A p.Glu1303Lys Missense 26/29 - 1
2-29430079-T-C c.3896A>G p.Glu1299Gly Missense 26/29 - 1
2-29430080-C-A c.3895G>T p.Glu1299* Nonsense 26/29 - 1
2-29430080-C-G c.3895G>C p.Glu1299Gln Missense 26/29 - 1
2-29430087-C-A c.3888G>T p.Met1296Ile Missense 26/29 - 1
2-29430087-C-G c.3888G>C p.Met1296Ile Missense 26/29 - 1
2-29430087-C-T c.3888G>A p.Met1296Ile Missense 26/29 - 1
2-29430097-A-T c.3878T>A p.Val1293Asp Missense 26/29 - 1
2-29430103-A-T c.3872T>A p.Leu1291Gln Missense 26/29 - 1
2-29430106-A-G c.3869T>C p.Met1290Thr Missense 26/29 - 1
2-29430107-T-C c.3868A>G p.Met1290Val Missense 26/29 - 1
2-29430109-G-A c.3866C>T p.Ala1289Val Missense 26/29 - 1
2-29430118-C-G c.3857G>C p.Gly1286Ala Missense 26/29 - 1
2-29430119-C-G c.3856G>C p.Gly1286Arg Missense 26/29 - 5
2-29430126-ATA-GAG c.3847_3849delinsCTC p.Tyr1283Leu Missense 26/29 - 1
2-29430127-T-A c.3848A>T p.Tyr1283Phe Missense 26/29 - 1
2-29430129-GTA-GAG c.3844_3845delinsCT p.Tyr1282Leu Missense 26/29 - 1
2-29430130-T-A c.3845A>T p.Tyr1282Phe Missense 26/29 - 1
2-29430132-G-C c.3843C>G p.Ser1281Arg Missense 26/29 - 1
2-29430132-G-T c.3843C>A p.Ser1281Arg Missense 26/29 - 1
2-29430134-T-G c.3841A>C p.Ser1281Arg Missense 26/29 - 1
2-29430136-G-A c.3839C>T p.Ala1280Val Missense 26/29 - 3
2-29432651-C-A c.3836+1G>T - IntronicSNV - 25/28 1
2-29432652-C-T c.3836G>A p.Arg1279Lys Missense 25/29 - 1
2-29432652-CT-CA c.3835delinsT p.Arg1279Trp Missense 25/29 - 8
2-29432654-GTA-GAG c.3832_3833delinsCT p.Tyr1278Leu Missense 25/29 - 1
2-29432655-T-A c.3833A>T p.Tyr1278Phe Missense 25/29 - 1
2-29432655-TA-GC c.3832_3833delinsGC p.Tyr1278Ala Missense 25/29 - 2
2-29432655-T-C c.3833A>G p.Tyr1278Cys Missense 25/29 - 1
2-29432655-T-G c.3833A>C p.Tyr1278Ser Missense 25/29 - 21
2-29432656-A-C c.3832T>G p.Tyr1278Asp Missense 25/29 - 1
2-29432656-A-G c.3832T>C p.Tyr1278His Missense 25/29 - 1
2-29432656-A-T c.3832T>A p.Tyr1278Asn Missense 25/29 - 1
2-29432658-A-G c.3830T>C p.Ile1277Thr Missense 25/29 - 1
2-29432663-TCG-TGG c.3824delinsC p.Arg1275Pro Missense 25/29 - 1
2-29432664-C-A c.3824G>T p.Arg1275Leu Missense 25/29 - 21
2-29432664-C-T c.3824G>A p.Arg1275Gln Missense 25/29 - 233
2-29432665-G-A c.3823C>T p.Arg1275* Nonsense 25/29 - 2
2-29432668-C-T c.3820G>A p.Ala1274Thr Missense 25/29 - 4
2-29432674-C-A c.3814G>T p.Gly1272Trp Missense 25/29 - 1
2-29432674-C-G c.3814G>C p.Gly1272Arg Missense 25/29 - 2
2-29432674-C-T c.3814G>A p.Gly1272Arg Missense 25/29 - 2
2-29432676-A-T c.3812T>A p.Phe1271Tyr Missense 25/29 - 2
2-29432675-G-C c.3813C>G p.Phe1271Leu Missense 25/29 - 1
2-29432675-G-T c.3813C>A p.Phe1271Leu Missense 25/29 - 1
2-29432677-A-G c.3811T>C p.Phe1271Leu Missense 25/29 - 1
2-29432678-G-C c.3810C>G p.Asp1270Glu Missense 25/29 - 1
2-29432678-G-T c.3810C>A p.Asp1270Glu Missense 25/29 - 1
2-29432679-T-C c.3809A>G p.Asp1270Gly Missense 25/29 - 4
2-29432680-C-T c.3808G>A p.Asp1270Asn Missense 25/29 - 1
2-29432681-TCC-ATG c.3805_3807delinsCAT p.Gly1269His Missense 25/29 - 1
2-29432681-TCC-TGT c.3805_3806delinsAC p.Gly1269Thr Missense 25/29 - 2
2-29432682-C-G c.3806G>C p.Gly1269Ala Missense 25/29 - 292
2-29432683-C-G c.3805G>C p.Gly1269Arg Missense 25/29 - 2
2-29432683-C-T c.3805G>A p.Gly1269Arg Missense 25/29 - 2
2-29432686-T-C c.3802A>G p.Ile1268Val Missense 25/29 - 2
2-29432686-T-G c.3802A>C p.Ile1268Leu Missense 25/29 - 2
2-29432692-C-T c.3796G>A p.Ala1266Thr Missense 25/29 - 1
2-29432700-C-A c.3788G>T p.Gly1263Val Missense 25/29 - 1
2-29432701-C-G c.3787G>C p.Gly1263Arg Missense 25/29 - 1
2-29432701-C-T c.3787G>A p.Gly1263Arg Missense 25/29 - 1
2-29432712-C-T c.3776G>A p.Cys1259Tyr Missense 25/29 - 2
2-29432713-A-G c.3775T>C p.Cys1259Arg Missense 25/29 - 1
2-29432715-G-T c.3773C>A p.Thr1258Asn Missense 25/29 - 1
2-29432722-G-A c.3766C>T p.Leu1256Phe Missense 25/29 - 4
2-29432730-C-T c.3758G>A p.Arg1253Lys Missense 25/29 - 1
2-29432733-G-A c.3755C>T p.Ala1252Val Missense 25/29 - 2
2-29432736-G-T c.3752C>A p.Ala1251Asp Missense 25/29 - 1
2-29432737-C-T c.3751G>A p.Ala1251Thr Missense 25/29 - 1
2-29432738-A-C c.3750T>G p.Ile1250Met Missense 25/29 - 1
2-29432739-A-G c.3749T>C p.Ile1250Thr Missense 25/29 - 29
2-29432743-C-A c.3745G>T p.Asp1249Tyr Missense 25/29 - 1
2-29432776-T-C c.3744-32A>G - IntronicSNV - 24/28 3
2-29434034-C-G c.3744-1290G>C - IntronicSNV - 24/28 1
2-29434034-C-T c.3744-1290G>A - IntronicSNV - 24/28 1
2-29434339-T-C c.3744-1595A>G - IntronicSNV - 24/28 1
2-29436850-C-T c.3743G>A p.Arg1248Gln Missense 24/29 - 1
2-29436851-G-A c.3742C>T p.Arg1248* Nonsense 24/29 - 2
2-29436851-G-T c.3742C>A p.Arg1248Arg Synonymous 24/29 - 1
2-29436858-GA-AA c.3735delinsT p.Phe1245Phe Nonsense 24/29 - 1
2-29436859-A-C c.3734T>G p.Phe1245Cys Missense 24/29 - 68
2-29436859-A-T c.3734T>A p.Phe1245Tyr Missense 24/29 - 1
2-29436858-G-C c.3735C>G p.Phe1245Leu Missense 24/29 - 11
2-29436858-G-T c.3735C>A p.Phe1245Leu Missense 24/29 - 13
2-29436860-A-C c.3733T>G p.Phe1245Val Missense 24/29 - 33
2-29436860-A-T c.3733T>A p.Phe1245Ile Missense 24/29 - 9
2-29436862-T-C c.3731A>G p.His1244Arg Missense 24/29 - 1
2-29436863-G-A c.3730C>T p.His1244Tyr Missense 24/29 - 1
2-29436868-T-C c.3725A>G p.Glu1242Gly Missense 24/29 - 1
2-29436869-C-T c.3724G>A p.Glu1242Lys Missense 24/29 - 1
2-29436875-A-C c.3718T>G p.Leu1240Val Missense 24/29 - 4
2-29436878-A-G c.3715T>C p.Tyr1239His Missense 24/29 - 2
2-29436890-A-G c.3703T>C p.Cys1235Arg Missense 24/29 - 1
2-29436893-C-T c.3700G>A p.Ala1234Thr Missense 24/29 - 13
2-29436895-A-G c.3698T>C p.Ile1233Thr Missense 24/29 - 1
2-29436898-T-C c.3695A>G p.Asp1232Gly Missense 24/29 - 2
2-29436901-C-T c.3692G>A p.Arg1231Gln Missense 24/29 - 9
2-29436902-G-A c.3691C>T p.Arg1231Trp Missense 24/29 - 1
2-29436905-C-G c.3688G>C p.Ala1230Pro Missense 24/29 - 1
2-29436908-C-T c.3685G>A p.Val1229Met Missense 24/29 - 1
2-29436919-T-C c.3674A>G p.Asp1225Gly Missense 24/29 - 1
2-29436919-T-G c.3674A>C p.Asp1225Ala Missense 24/29 - 1
2-29436920-C-T c.3673G>A p.Asp1225Asn Missense 24/29 - 2
2-29436929-C-G c.3664G>C p.Ala1222Pro Missense 24/29 - 1
2-29436938-A-G c.3655T>C p.Ser1219Pro Missense 24/29 - 1
2-29436941-G-A c.3652C>T p.Pro1218Ser Missense 24/29 - 1
2-29436942-C-A c.3651G>T p.Gln1217His Missense 24/29 - 1
2-29436947-T-C c.3646A>G p.Ser1216Gly Missense 24/29 - 1
2-29438549-T-C c.3646-1602A>G - IntronicSNV - 23/28 2
2-29443573-G-T c.3644C>A p.Pro1215Gln Missense 23/29 - 1
2-29443576-C-T c.3641G>A p.Arg1214His Missense 23/29 - 2
2-29443577-G-A c.3640C>T p.Arg1214Cys Missense 23/29 - 1
2-29443579-GG-TG c.3638delinsA p.Pro1213His Missense 23/29 - 1
2-29443579-G-T c.3638C>A p.Pro1213His Missense 23/29 - 1
2-29443580-G-A c.3637C>T p.Pro1213Ser Missense 23/29 - 1
2-29443582-C-G c.3635G>C p.Arg1212Pro Missense 23/29 - 1
2-29443582-C-T c.3635G>A p.Arg1212His Missense 23/29 - 2
2-29443583-G-A c.3634C>T p.Arg1212Cys Missense 23/29 - 1
2-29443589-C-T c.3628G>A p.Glu1210Lys Missense 23/29 - 53
2-29443590-T-C c.3627A>G p.Arg1209Arg Synonymous 23/29 - 1
2-29443591-C-T c.3626G>A p.Arg1209Gln Missense 23/29 - 3
2-29443595-G-A c.3622C>T p.Leu1208Phe Missense 23/29 - 1
2-29443600-G-A c.3617C>T p.Ser1206Phe Missense 23/29 - 9
2-29443600-GA-CG c.3616_3617delinsCG p.Ser1206Arg Missense 23/29 - 12
2-29443600-G-C c.3617C>G p.Ser1206Cys Missense 23/29 - 17
2-29443600-G-T c.3617C>A p.Ser1206Tyr Missense 23/29 - 159
2-29443601-A-C c.3616T>G p.Ser1206Ala Missense 23/29 - 1
2-29443601-A-T c.3616T>A p.Ser1206Thr Missense 23/29 - 1
2-29443606-A-G c.3611T>C p.Leu1204Pro Missense 23/29 - 1
2-29443607-G-A c.3610C>T p.Leu1204Phe Missense 23/29 - 6
2-29443607-G-C c.3610C>G p.Leu1204Val Missense 23/29 - 3
2-29443608-GTC-AAG c.3607_3609delinsCTT p.Asp1203Leu Missense 23/29 - 1
2-29443609-T-C c.3608A>G p.Asp1203Gly Missense 23/29 - 2
2-29443609-T-G c.3608A>C p.Asp1203Ala Missense 23/29 - 1
2-29443610-C-G c.3607G>C p.Asp1203His Missense 23/29 - 1
2-29443610-C-T c.3607G>A p.Asp1203Asn Missense 23/29 - 97
2-29443611-T-A c.3606A>T p.Gly1202Gly Synonymous 23/29 - 1
2-29443611-T-C c.3606A>G p.Gly1202Gly Synonymous 23/29 - 1
2-29443611-TCC-AGC c.3605_3606delinsCT p.Gly1202Ala Missense 23/29 - 1
2-29443611-T-G c.3606A>C p.Gly1202Gly Synonymous 23/29 - 1
2-29443612-CC-TT c.3604_3605delinsAA p.Gly1202Lys Missense 23/29 - 1
2-29443613-C-A c.3604G>T p.Gly1202* Nonsense 23/29 - 1
2-29443613-C-T c.3604G>A p.Gly1202Arg Missense 23/29 - 383
2-29443615-CCCC-C c.3603_3605del p.Gly1202del InFrameDeletion 23/29 - 23
2-29443615-C-G c.3602G>C p.Gly1201Ala Missense 23/29 - 1
2-29443615-C-T c.3602G>A p.Gly1201Glu Missense 23/29 - 16
2-29443616-C-G c.3601G>C p.Gly1201Arg Missense 23/29 - 3
2-29443616-C-T c.3601G>A p.Gly1201Arg Missense 23/29 - 3
2-29443617-C-A c.3600G>T p.Ala1200Ala Synonymous 23/29 - 2
2-29443617-CC-C c.3605del p.Gly1202Glufs*56 Frameshift 23/29 - 1
2-29443617-C-G c.3600G>C p.Ala1200Ala Synonymous 23/29 - 2
2-29443617-C-T c.3600G>A p.Ala1200Ala Synonymous 23/29 - 2
2-29443618-G-A c.3599C>T p.Ala1200Val Missense 23/29 - 10
2-29443618-G-C c.3599C>G p.Ala1200Gly Missense 23/29 - 1
2-29443619-C-A c.3598G>T p.Ala1200Ser Missense 23/29 - 1
2-29443620-C-T c.3597G>A p.Met1199Ile Missense 23/29 - 1
2-29443622-T-A c.3595A>T p.Met1199Leu Missense 23/29 - 3
2-29443624-A-G c.3593T>C p.Leu1198Pro Missense 23/29 - 12
2-29443624-A-T c.3593T>A p.Leu1198His Missense 23/29 - 2
2-29443625-G-A c.3592C>T p.Leu1198Phe Missense 23/29 - 108
2-29443625-G-C c.3592C>G p.Leu1198Val Missense 23/29 - 1
2-29443625-G-T c.3592C>A p.Leu1198Ile Missense 23/29 - 2
2-29443628-C-T c.3589G>A p.Glu1197Lys Missense 23/29 - 1
2-29443629-CAG-TTT c.3586_3588delinsAAA p.Leu1196Lys Missense 23/29 - 1
2-29443630-A-T c.3587T>A p.Leu1196Gln Missense 23/29 - 20
2-29443631-G-T c.3586C>A p.Leu1196Met Missense 23/29 - 528
2-29443636-A-G c.3581T>C p.Ile1194Thr Missense 23/29 - 1
2-29443637-T-A c.3580A>T p.Ile1194Phe Missense 23/29 - 1
2-29443638-G-C c.3579C>G p.Phe1193Leu Missense 23/29 - 1
2-29443638-G-T c.3579C>A p.Phe1193Leu Missense 23/29 - 1
2-29443640-A-G c.3577T>C p.Phe1193Leu Missense 23/29 - 1
2-29443641-CC-AT c.3575_3576delinsAT p.Arg1192His Missense 23/29 - 1
2-29443642-C-G c.3575G>C p.Arg1192Pro Missense 23/29 - 44
2-29443642-C-T c.3575G>A p.Arg1192Gln Missense 23/29 - 2
2-29443643-G-A c.3574C>T p.Arg1192Trp Missense 23/29 - 1
2-29443643-G-C c.3574C>G p.Arg1192Gly Missense 23/29 - 1
2-29443645-G-T c.3572C>A p.Pro1191His Missense 23/29 - 1
2-29443646-G-A c.3571C>T p.Pro1191Ser Missense 23/29 - 1
2-29443646-G-C c.3571C>G p.Pro1191Ala Missense 23/29 - 1
2-29443648-A-G c.3569T>C p.Leu1190Pro Missense 23/29 - 1
2-29443651-G-T c.3566C>A p.Ser1189Tyr Missense 23/29 - 1
2-29443655-G-A c.3562C>T p.Gln1188* Nonsense 23/29 - 1
2-29443657-A-G c.3560T>C p.Leu1187Pro Missense 23/29 - 2
2-29443658-G-A c.3559C>T p.Leu1187Leu Synonymous 23/29 - 1
2-29443659-G-A c.3558C>T p.Ser1186Ser Synonymous 23/29 - 1
2-29443660-C-A c.3557G>T p.Ser1186Ile Missense 23/29 - 1
2-29443660-CT-TT c.3557delinsA p.Ser1186Asn Missense 23/29 - 1
2-29443664-C-A c.3553G>T p.Val1185Leu Missense 23/29 - 2
2-29443664-C-G c.3553G>C p.Val1185Leu Missense 23/29 - 2
2-29443666-C-T c.3551G>A p.Gly1184Glu Missense 23/29 - 6
2-29443669-A-G c.3548T>C p.Ile1183Thr Missense 23/29 - 6
2-29443672-C-T c.3545G>A p.Cys1182Tyr Missense 23/29 - 1
2-29443673-A-C c.3544T>G p.Cys1182Gly Missense 23/29 - 1
2-29443675-C-T c.3542G>A p.Arg1181His Missense 23/29 - 2
2-29443676-G-A c.3541C>T p.Arg1181Cys Missense 23/29 - 2
2-29443679-C-G c.3538G>C p.Val1180Leu Missense 23/29 - 95
2-29443685-T-G c.3532A>C p.Asn1178His Missense 23/29 - 3
2-29443691-G-A c.3526C>T p.His1176Tyr Missense 23/29 - 1
2-29443694-T-C c.3523A>G p.Asn1175Asp Missense 23/29 - 1
2-29443695-G-A c.3522C>T p.Phe1174Phe Synonymous 23/29 - 4
2-29443695-GA-AA c.3522delinsT p.Phe1174Phe Nonsense 23/29 - 7
2-29443696-A-C c.3521T>G p.Phe1174Cys Missense 23/29 - 137
2-29443696-A-G c.3521T>C p.Phe1174Ser Missense 23/29 - 23
2-29443696-A-T c.3521T>A p.Phe1174Tyr Missense 23/29 - 1
2-29443695-G-C c.3522C>G p.Phe1174Leu Missense 23/29 - 465
2-29443695-G-T c.3522C>A p.Phe1174Leu Missense 23/29 - 475
2-29443697-A-C c.3520T>G p.Phe1174Val Missense 23/29 - 80
2-29443697-A-G c.3520T>C p.Phe1174Leu Missense 23/29 - 466
2-29443697-A-T c.3520T>A p.Phe1174Ile Missense 23/29 - 29
2-29443749-G-T c.3516-48C>A - IntronicSNV - 22/28 1
2-29443763-T-C c.3516-62A>G - IntronicSNV - 22/28 1
2-29444076-G-T c.3516-375C>A - IntronicSNV - 22/28 3
2-29444095-C-G c.3516-394G>C - IntronicSNV - 22/28 4
2-29444095-C-T c.3516-394G>A - IntronicSNV - 22/28 4
2-29444726-G-C c.3515+484C>G - IntronicSNV - 22/28 1
2-29445157-G-C c.3515+53C>G - IntronicSNV - 22/28 1
2-29445157-G-T c.3515+53C>A - IntronicSNV - 22/28 1
2-29445212-GAT-TAA c.3511_3513delinsTTA p.Ile1171Leu Nonsense 22/29 - 10
2-29445212-G-C c.3513C>G p.Ile1171Met Missense 22/29 - 1
2-29445213-A-C c.3512T>G p.Ile1171Ser Missense 22/29 - 28
2-29445213-A-G c.3512T>C p.Ile1171Thr Missense 22/29 - 150
2-29445213-A-T c.3512T>A p.Ile1171Asn Missense 22/29 - 96
2-29445213-AT-CA c.3511_3512delinsTG p.Ile1171Cys Missense 22/29 - 1
2-29445213-AT-GC c.3511_3512delinsGC p.Ile1171Ala Missense 22/29 - 1
2-29445214-T-G c.3511A>C p.Ile1171Leu Missense 22/29 - 1
2-29445216-A-C c.3509T>G p.Ile1170Ser Missense 22/29 - 5
2-29445216-A-G c.3509T>C p.Ile1170Thr Missense 22/29 - 1
2-29445216-A-T c.3509T>A p.Ile1170Asn Missense 22/29 - 7
2-29445216-AT-GC c.3508_3509delinsGC p.Ile1170Ala Missense 22/29 - 1
2-29445217-T-C c.3508A>G p.Ile1170Val Missense 22/29 - 1
2-29445220-G-T c.3505C>A p.Leu1169Met Missense 22/29 - 3
2-29445225-T-G c.3500A>C p.Glu1167Ala Missense 22/29 - 1
2-29445226-C-A c.3499G>T p.Glu1167* Nonsense 22/29 - 1
2-29445228-A-C c.3497T>G p.Met1166Arg Missense 22/29 - 20
2-29445235-A-C c.3490T>G p.Phe1164Val Missense 22/29 - 1
2-29445238-C-T c.3487G>A p.Asp1163Asn Missense 22/29 - 2
2-29445242-T-A c.3483A>T p.Glu1161Asp Missense 22/29 - 2
2-29445242-T-G c.3483A>C p.Glu1161Asp Missense 22/29 - 2
2-29445243-TC-AC c.3482delinsT p.Glu1161Val Missense 22/29 - 1
2-29445243-T-G c.3482A>C p.Glu1161Ala Missense 22/29 - 1
2-29445244-C-T c.3481G>A p.Glu1161Lys Missense 22/29 - 1
2-29445245-G-A c.3480C>T p.Asp1160Asp Synonymous 22/29 - 1
2-29445247-C-G c.3478G>C p.Asp1160His Missense 22/29 - 1
2-29445247-C-T c.3478G>A p.Asp1160Asn Missense 22/29 - 2
2-29445249-T-A c.3476A>T p.Gln1159Leu Missense 22/29 - 1
2-29445255-G-A c.3470C>T p.Ser1157Phe Missense 22/29 - 2
2-29445257-GCA-AAG c.3466_3468delinsCTT p.Cys1156Leu Missense 22/29 - 1
2-29445258-C-A c.3467G>T p.Cys1156Phe Missense 22/29 - 8
2-29445258-CA-AC c.3466_3467delinsGT p.Cys1156Val Missense 22/29 - 1
2-29445258-C-T c.3467G>A p.Cys1156Tyr Missense 22/29 - 330
2-29445258-C-G c.3467G>C p.Cys1156Ser Missense 22/29 - 3
2-29445259-A-T c.3466T>A p.Cys1156Ser Missense 22/29 - 3
2-29445261-A-C c.3464T>G p.Val1155Gly Missense 22/29 - 1
2-29445264-T-C c.3461A>G p.Glu1154Gly Missense 22/29 - 1
2-29445265-C-G c.3460G>C p.Glu1154Gln Missense 22/29 - 1
2-29445265-C-T c.3460G>A p.Glu1154Lys Missense 22/29 - 3
2-29445268-G-A c.3457C>T p.Pro1153Ser Missense 22/29 - 1
2-29445270-A-C c.3455T>G p.Leu1152Arg Missense 22/29 - 153
2-29445270-A-G c.3455T>C p.Leu1152Pro Missense 22/29 - 22
2-29445271-G-C c.3454C>G p.Leu1152Val Missense 22/29 - 3
2-29445273-G-A c.3452C>T p.Thr1151Met Missense 22/29 - 37
2-29445273-G-C c.3452C>G p.Thr1151Arg Missense 22/29 - 9
2-29445273-G-T c.3452C>A p.Thr1151Lys Missense 22/29 - 8
2-29445274-T-A c.3451A>T p.Thr1151Ser Missense 22/29 - 1
2-29445297-G-A c.3451-23C>T - IntronicSNV - 21/28 1
2-29445304-G-A c.3451-30C>T - IntronicSNV - 21/28 1
2-29445383-CTT-TTT c.3450delinsA p.Lys1150Lys Missense 21/29 - 1
2-29445384-T-A c.3449A>T p.Lys1150Met Missense 21/29 - 2
2-29445384-T-C c.3449A>G p.Lys1150Arg Missense 21/29 - 2
2-29445384-TT-GC c.3448_3449delinsGC p.Lys1150Ala Missense 21/29 - 2
2-29445387-A-G c.3446T>C p.Val1149Ala Missense 21/29 - 2
2-29445388-C-A c.3445G>T p.Val1149Leu Missense 21/29 - 1
2-29445388-C-G c.3445G>C p.Val1149Leu Missense 21/29 - 1
2-29445396-T-G c.3437A>C p.Gln1146Pro Missense 21/29 - 1
2-29445396-TG-TC c.3436delinsG p.Gln1146Glu Missense 21/29 - 1
2-29445397-G-T c.3436C>A p.Gln1146Lys Missense 21/29 - 1
2-29445409-G-T c.3424C>A p.Pro1142Thr Missense 21/29 - 1
2-29445411-T-G c.3422A>C p.Asp1141Ala Missense 21/29 - 1
2-29445412-C-T c.3421G>A p.Asp1141Asn Missense 21/29 - 1
2-29445423-C-T c.3410G>A p.Gly1137Glu Missense 21/29 - 1
2-29445425-G-A c.3408C>T p.Ser1136Ser Synonymous 21/29 - 2
2-29445425-G-C c.3408C>G p.Ser1136Ser Synonymous 21/29 - 2
2-29445425-G-T c.3408C>A p.Ser1136Ser Synonymous 21/29 - 2
2-29445429-A-T c.3404T>A p.Val1135Glu Missense 21/29 - 2
2-29445436-C-T c.3397G>A p.Gly1133Ser Missense 21/29 - 1
2-29445438-T-C c.3395A>G p.Glu1132Gly Missense 21/29 - 1
2-29445439-C-T c.3394G>A p.Glu1132Lys Missense 21/29 - 1
2-29445445-C-A c.3388G>T p.Val1130Leu Missense 21/29 - 1
2-29445445-C-G c.3388G>C p.Val1130Leu Missense 21/29 - 1
2-29445447-T-A c.3386A>T p.Glu1129Val Missense 21/29 - 3
2-29445447-T-C c.3386A>G p.Glu1129Gly Missense 21/29 - 1
2-29445448-C-T c.3385G>A p.Glu1129Lys Missense 21/29 - 1
2-29445450-C-G c.3383G>C p.Gly1128Ala Missense 21/29 - 42
2-29445458-G-A c.3375C>T p.Gly1125Gly Synonymous 21/29 - 4
2-29445458-G-T c.3375C>A p.Gly1125Gly Synonymous 21/29 - 5
2-29445464-GGCCC-G c.3366_3369del p.Gly1123Metfs*26 Frameshift 21/29 - 1
2-29445465-C-T c.3368G>A p.Gly1123Asp Missense 21/29 - 5
2-29445466-C-T c.3367G>A p.Gly1123Ser Missense 21/29 - 31
2-29445469-G-C c.3364C>G p.Leu1122Val Missense 21/29 - 3
2-29445471-C-T c.3362G>A p.Gly1121Asp Missense 21/29 - 1
2-29445798-T-C c.3360-325A>G - IntronicSNV - 20/28 1
2-29445798-T-G c.3360-325A>C - IntronicSNV - 20/28 1
2-29445809-T-C c.3360-336A>G - IntronicSNV - 20/28 1
2-29445982-G-C c.3359+226C>G - IntronicSNV - 20/28 1
2-29446202-G-A c.3359+6C>T - IntronicSNV - 20/28 4
2-29446208-C-A c.3359G>T p.Arg1120Leu Missense 20/29 - 1
2-29446208-C-T c.3359G>A p.Arg1120Gln Missense 20/29 - 1
2-29446209-G-A c.3358C>T p.Arg1120Trp Missense 20/29 - 4
2-29446210-A-C c.3357T>G p.Ile1119Met Missense 20/29 - 1
2-29446213-G-A c.3354C>T p.Leu1118Leu Synonymous 20/29 - 1
2-29446213-G-C c.3354C>G p.Leu1118Leu Synonymous 20/29 - 1
2-29446213-G-T c.3354C>A p.Leu1118Leu Synonymous 20/29 - 1
2-29446229-C-T c.3338G>A p.Arg1113Gln Missense 20/29 - 2
2-29446230-G-A c.3337C>T p.Arg1113Trp Missense 20/29 - 1
2-29446236-C-T c.3331G>A p.Val1111Met Missense 20/29 - 1
2-29446237-C-A c.3330G>T p.Glu1110Asp Missense 20/29 - 1
2-29446237-C-G c.3330G>C p.Glu1110Asp Missense 20/29 - 1
2-29446244-A-C c.3323T>G p.Leu1108Arg Missense 20/29 - 1
2-29446253-A-C c.3314T>G p.Ile1105Ser Missense 20/29 - 1
2-29446256-G-A c.3311C>T p.Ser1104Phe Missense 20/29 - 1
2-29446264-C-A c.3303G>T p.Lys1101Asn Missense 20/29 - 1
2-29446264-C-G c.3303G>C p.Lys1101Asn Missense 20/29 - 1
2-29446272-C-T c.3295G>A p.Ala1099Thr Missense 20/29 - 3
2-29446274-AAA-A c.3293_3294del p.Phe1098Cysfs*9 Frameshift 20/29 - 1
2-29446275-A-C c.3292T>G p.Phe1098Val Missense 20/29 - 1
2-29446276-GCA-AAG c.3289_3291delinsCTT p.Cys1097Leu Missense 20/29 - 1
2-29446277-CA-GC c.3289_3290delinsGC p.Cys1097Ala Missense 20/29 - 2
2-29446277-C-T c.3290G>A p.Cys1097Tyr Missense 20/29 - 1
2-29446277-C-G c.3290G>C p.Cys1097Ser Missense 20/29 - 2
2-29446278-A-T c.3289T>A p.Cys1097Ser Missense 20/29 - 2
2-29446280-T-A c.3287A>T p.Tyr1096Phe Missense 20/29 - 2
2-29446280-TA-GC c.3286_3287delinsGC p.Tyr1096Ala Missense 20/29 - 2
2-29446295-T-G c.3272A>C p.Asp1091Ala Missense 20/29 - 1
2-29446296-C-T c.3271G>A p.Asp1091Asn Missense 20/29 - 22
2-29446305-T-C c.3262A>G p.Ile1088Val Missense 20/29 - 1
2-29446307-G-A c.3260C>T p.Thr1087Ile Missense 20/29 - 8
2-29446307-GT-CT c.3260delinsG p.Thr1087Ser Missense 20/29 - 1
2-29446310-G-A c.3257C>T p.Ser1086Leu Missense 20/29 - 3
2-29446310-G-C c.3257C>G p.Ser1086Trp Missense 20/29 - 1
2-29446313-GG-G c.3255del p.Ser1086Argfs*4 Frameshift 20/29 - 1
2-29446316-C-T c.3251G>A p.Arg1084His Missense 20/29 - 1
2-29446317-G-A c.3250C>T p.Arg1084Cys Missense 20/29 - 2
2-29446317-G-C c.3250C>G p.Arg1084Gly Missense 20/29 - 1
2-29446324-G-T c.3243C>A p.Ser1081Arg Missense 20/29 - 1
2-29446334-T-C c.3233A>G p.Tyr1078Cys Missense 20/29 - 1
2-29446338-C-T c.3229G>A p.Glu1077Lys Missense 20/29 - 1
2-29446374-C-A c.3193G>T p.Glu1065* Nonsense 20/29 - 1
2-29446382-T-A c.3185A>T p.Lys1062Met Missense 20/29 - 17
2-29446383-T-A c.3184A>T p.Lys1062* Nonsense 20/29 - 1
2-29446385-C-T c.3182G>A p.Arg1061Gln Missense 20/29 - 2
2-29446386-G-A c.3181C>T p.Arg1061Trp Missense 20/29 - 1
2-29446388-C-T c.3179G>A p.Arg1060His Missense 20/29 - 3
2-29446395-C-G c.3173-1G>C - IntronicSNV - 19/28 1
2-29446701-T-C c.3173-307A>G - IntronicSNV - 19/28 1
2-29446721-A-G c.3173-327T>C - IntronicSNV - 19/28 1
2-29447108-G-A c.3173-714C>T - IntronicSNV - 19/28 2
2-29447253-A-C c.3173-859T>G - IntronicSNV - 19/28 1
2-29447253-A-G c.3173-859T>C - IntronicSNV - 19/28 1
2-29448326-C-A c.3172+1G>T - IntronicSNV - 19/28 1
2-29448329-A-G c.3170T>C p.Ile1057Thr Missense 19/29 - 1
2-29448339-C-T c.3160G>A p.Gly1054Ser Missense 19/29 - 1
2-29448358-GGC-TAA c.3139_3141delinsTTA p.Ala1047Leu Nonsense 19/29 - 1
2-29448359-G-A c.3140C>T p.Ala1047Val Missense 19/29 - 1
2-29448359-G-C c.3140C>G p.Ala1047Gly Missense 19/29 - 1
2-29448359-GC-CG c.3139_3140delinsCG p.Ala1047Arg Missense 19/29 - 2
2-29448360-C-T c.3139G>A p.Ala1047Thr Missense 19/29 - 1
2-29448371-GC-AA c.3127_3128delinsTT p.Ala1043Phe Missense 19/29 - 1
2-29448384-C-T c.3115G>A p.Val1039Met Missense 19/29 - 1
2-29448410-T-G c.3089A>C p.His1030Pro Missense 19/29 - 1
2-29448412-T-A c.3087A>T p.Pro1029Pro Synonymous 19/29 - 1
2-29448412-T-C c.3087A>G p.Pro1029Pro Synonymous 19/29 - 1
2-29448412-T-G c.3087A>C p.Pro1029Pro Synonymous 19/29 - 1
2-29448760-C-T c.3068-329G>A - IntronicSNV - 18/28 1
2-29448846-C-G c.3068-415G>C - IntronicSNV - 18/28 1
2-29449423-G-A c.3067+365C>T - IntronicSNV - 18/28 1
2-29449793-C-T c.3062G>A p.Cys1021Tyr Missense 18/29 - 1
2-29449803-C-T c.3052G>A p.Gly1018Ser Missense 18/29 - 1
2-29449819-C-T c.3036G>A p.Thr1012Thr Synonymous 18/29 - 3
2-29449820-G-A c.3035C>T p.Thr1012Met Missense 18/29 - 5
2-29449847-TT-GC c.3007_3008delinsGC p.Lys1003Ala Missense 18/29 - 1
2-29449855-TTC-ATG c.2998_3000delinsCAT p.Glu1000His Missense 18/29 - 3
2-29449859-GG-AT c.2995_2996delinsAT p.Pro999Ile Missense 18/29 - 1
2-29449866-T-C c.2989A>G p.Met997Val Missense 18/29 - 1
2-29449896-A-G c.2959T>C p.Cys987Arg Missense 18/29 - 1
2-29449899-T-TA c.2955_2956insT p.Asn986* Nonsense 18/29 - 1
2-29449904-TA-GC c.2950_2951delinsGC p.Tyr984Ala Missense 18/29 - 1
2-29449926-C-T c.2929G>A p.Gly977Arg Missense 18/29 - 1
2-29449931-C-A c.2924G>T p.Gly975Val Missense 18/29 - 1
2-29450500-C-G c.2854G>C p.Gly952Arg Missense 17/29 - 1
2-29450500-C-T c.2854G>A p.Gly952Arg Missense 17/29 - 1
2-29450501-A-G c.2853T>C p.Asp951Asp Synonymous 17/29 - 1
2-29450503-C-A c.2851G>T p.Asp951Tyr Missense 17/29 - 1
2-29450535-C-T c.2819G>A p.Gly940Asp Missense 17/29 - 1
2-29450537-G-A c.2817C>T p.Gly939Gly Synonymous 17/29 - 1
2-29451354-A-G c.2815+396T>C - IntronicSNV - 16/28 1
2-29451354-A-T c.2815+396T>A - IntronicSNV - 16/28 1
2-29451511-C-G c.2815+239G>C - IntronicSNV - 16/28 1
2-29451757-TCC-AGC c.2807_2808delinsCT p.Gly936Ala Missense 16/29 - 1
2-29451759-C-G c.2806G>C p.Gly936Arg Missense 16/29 - 1
2-29451759-C-T c.2806G>A p.Gly936Arg Missense 16/29 - 1
2-29451764-C-T c.2801G>A p.Gly934Asp Missense 16/29 - 1
2-29451782-C-T c.2783G>A p.Cys928Tyr Missense 16/29 - 1
2-29451789-C-G c.2776G>C p.Gly926Arg Missense 16/29 - 1
2-29451789-C-T c.2776G>A p.Gly926Arg Missense 16/29 - 1
2-29451795-C-T c.2770G>A p.Gly924Ser Missense 16/29 - 1
2-29451802-G-C c.2763C>G p.Phe921Leu Missense 16/29 - 2
2-29451833-T-G c.2732A>C p.Lys911Thr Missense 16/29 - 1
2-29451845-GGGG-G c.2720_2722del p.Pro907del InFrameDeletion 16/29 - 1
2-29451861-C-G c.2704G>C p.Gly902Arg Missense 16/29 - 1
2-29451861-C-T c.2704G>A p.Gly902Arg Missense 16/29 - 1
2-29451865-G-A c.2700C>T p.Ala900Ala Synonymous 16/29 - 1
2-29451873-C-T c.2692G>A p.Glu898Lys Missense 16/29 - 1
2-29451887-C-T c.2678G>A p.Gly893Glu Missense 16/29 - 1
2-29451909-T-G c.2656A>C p.Asn886His Missense 16/29 - 1
2-29451911-T-G c.2654A>C p.Asp885Ala Missense 16/29 - 1
2-29451923-C-T c.2642G>A p.Gly881Asp Missense 16/29 - 2
2-29454701-A-G c.2632+469T>C - IntronicSNV - 15/28 1
2-29455173-C-A c.2629G>T p.Ala877Ser Missense 15/29 - 5
2-29455173-C-T c.2629G>A p.Ala877Thr Missense 15/29 - 1
2-29455179-C-G c.2623G>C p.Gly875Arg Missense 15/29 - 1
2-29455179-C-T c.2623G>A p.Gly875Arg Missense 15/29 - 1
2-29455182-A-C c.2620T>G p.Ser874Ala Missense 15/29 - 1
2-29455199-A-C c.2603T>G p.Leu868Arg Missense 15/29 - 2
2-29455199-A-T c.2603T>A p.Leu868Gln Missense 15/29 - 1
2-29455215-T-TA c.2586_2587insT p.Asn863* Nonsense 15/29 - 1
2-29455220-AG-TA c.2581_2582delinsTA p.Leu861* Nonsense 15/29 - 1
2-29455220-A-T c.2582T>A p.Leu861Gln Missense 15/29 - 19
2-29455223-C-A c.2579G>T p.Arg860Ile Missense 15/29 - 1
2-29455225-C-A c.2577G>T p.Glu859Asp Missense 15/29 - 1
2-29455225-C-G c.2577G>C p.Glu859Asp Missense 15/29 - 1
2-29455235-A-G c.2567T>C p.Phe856Ser Missense 15/29 - 2
2-29455239-T-C c.2563A>G p.Thr855Ala Missense 15/29 - 1
2-29455255-GTA-AAG c.2545_2547delinsCTT p.Tyr849Leu Missense 15/29 - 1
2-29455267-A-G c.2535T>C p.Gly845Gly Synonymous 15/29 - 6
2-29455300-CAC-AAGAAA c.2500_2502delinsTTTCTT p.Val834delinsPheLeu MultiAAMissense 15/29 - 1
2-29455738-G-A c.2488-424C>T - IntronicSNV - 14/28 1
2-29456449-TC-AC c.2469delinsT p.Gly823Gly Missense 14/29 - 1
2-29456465-C-G c.2453G>C p.Gly818Ala Missense 14/29 - 1
2-29456487-C-T c.2431G>A p.Val811Met Missense 14/29 - 1
2-29456501-C-T c.2417G>A p.Arg806His Missense 14/29 - 1
2-29456513-T-A c.2405A>T p.Glu802Val Missense 14/29 - 1
2-29456531-C-G c.2387G>C p.Gly796Ala Missense 14/29 - 1
2-29459309-C-A c.2356-2747G>T - IntronicSNV - 13/28 1
2-29462405-A-G c.2355+141T>C - IntronicSNV - 13/28 1
2-29462520-G-A c.2355+26C>T - IntronicSNV - 13/28 1
2-29462520-G-T c.2355+26C>A - IntronicSNV - 13/28 1
2-29462557-C-T c.2344G>A p.Ala782Thr Missense 13/29 - 1
2-29462573-CCC-ATC c.2327_2328delinsAT p.Gly776Asp Missense 13/29 - 1
2-29462573-GCCC-G c.2326_2328del p.Gly776del InFrameDeletion 13/29 - 1
2-29462574-C-A c.2327G>T p.Gly776Val Missense 13/29 - 1
2-29462574-CC-CT c.2326delinsA p.Gly776Arg Missense 13/29 - 1
2-29462585-G-C c.2316C>G p.Tyr772* Nonsense 13/29 - 1
2-29462587-A-AAGCCATCACGTA c.2316_2317insGTGATGGCTTAC p.Tyr772_Ile773insValMetAlaTyr InFrameInsertion 13/29 - 1
2-29462590-G-GACC c.2310_2311insGGT p.Met770_Leu771insGly InFrameInsertion 13/29 - 1
2-29462596-C-A c.2305G>T p.Asp769Tyr Missense 13/29 - 5
2-29462596-C-G c.2305G>C p.Asp769His Missense 13/29 - 3
2-29462596-C-T c.2305G>A p.Asp769Asn Missense 13/29 - 1
2-29462607-A-G c.2294T>C p.Leu765Pro Missense 13/29 - 1
2-29462625-CACAGACACGCCGTGGGACCGCATCATG-C c.2250_2276del p.Met751_Val759del InFrameDeletion 13/29 - 1
2-29462632-C-T c.2269G>A p.Val757Met Missense 13/29 - 1
2-29462637-TG-GC c.2263_2264delinsGC p.His755Ala Missense 13/29 - 1
2-29462639-GGGA-G c.2260_2262del p.Ser754del InFrameDeletion 13/29 - 1
2-29462643-C-T c.2258G>A p.Arg753Gln Missense 13/29 - 2
2-29462651-TGGTGTTCTTCCCGCC-T c.2236_2250del p.Gly746_Thr750del InFrameDeletion 13/29 - 1
2-29462652-GGTG-G c.2249_2251del p.Thr750del InFrameDeletion 13/29 - 3
2-29462652-GGTGTTCTTCCCGCCT-G c.2235_2249del p.Lys745_Thr750delinsAsn MultiAAMissense 13/29 - 1
2-29462657-TCTTCCCGCC-T c.2236_2244del p.Gly746_Lys748del InFrameDeletion 13/29 - 1
2-29462663-GC-AG c.2237_2238delinsCT p.Gly746Ala Missense 13/29 - 1
2-29462665-C-T c.2236G>A p.Gly746Ser Missense 13/29 - 1
2-29462670-C-A c.2231G>T p.Gly744Val Missense 13/29 - 1
2-29462681-TC-AC c.2220delinsT p.Gly740Gly Missense 13/29 - 1
2-29462690-C-G c.2211G>C p.Ser737Ser Synonymous 13/29 - 1
2-29462691-G-A c.2210C>T p.Ser737Leu Missense 13/29 - 2
2-29465383-T-C c.2205-2687A>G - IntronicSNV - 12/28 1
2-29465411-G-A c.2205-2715C>T - IntronicSNV - 12/28 1
2-29465429-T-C c.2205-2733A>G - IntronicSNV - 12/28 1
2-29469654-A-C c.2204+4317T>G - IntronicSNV - 12/28 1
2-29471420-C-G c.2204+2551G>C - IntronicSNV - 12/28 1
2-29472936-T-G c.2204+1035A>C - IntronicSNV - 12/28 2
2-29473977-G-A c.2198C>T p.Thr733Ile Missense 12/29 - 1
2-29473986-G-T c.2189C>A p.Ala730Asp Missense 12/29 - 1
2-29473997-C-A c.2178G>T p.Trp726Cys Missense 12/29 - 1
2-29473997-C-G c.2178G>C p.Trp726Cys Missense 12/29 - 1
2-29474012-TT-TG c.2162delinsC p.Lys721Thr Missense 12/29 - 1
2-29474016-A-G c.2159T>C p.Leu720Pro Missense 12/29 - 1
2-29474021-GCC-TGA c.2152_2154delinsTCA p.Gly718Ser Nonsense 12/29 - 1
2-29474026-C-G c.2149G>C p.Glu717Gln Missense 12/29 - 2
2-29474026-C-T c.2149G>A p.Glu717Lys Missense 12/29 - 2
2-29474033-CAC-ATC c.2141_2142delinsAT p.Val714Asp Missense 12/29 - 1
2-29474048-G-A c.2127C>T p.Asn709Asn Synonymous 12/29 - 1
2-29474048-G-T c.2127C>A p.Asn709Lys Missense 12/29 - 1
2-29474065-C-T c.2110G>A p.Ala704Thr Missense 12/29 - 2
2-29474092-C-T c.2083G>A p.Gly695Ser Missense 12/29 - 2
2-29474094-T-C c.2081A>G p.His694Arg Missense 12/29 - 4
2-29474099-C-A c.2076G>T p.Gly692Gly Synonymous 12/29 - 1
2-29474099-C-G c.2076G>C p.Gly692Gly Synonymous 12/29 - 1
2-29474099-C-T c.2076G>A p.Gly692Gly Synonymous 12/29 - 1
2-29474109-C-T c.2066G>A p.Gly689Glu Missense 12/29 - 1
2-29474110-C-G c.2065G>C p.Gly689Arg Missense 12/29 - 1
2-29474110-C-T c.2065G>A p.Gly689Arg Missense 12/29 - 1
2-29486078-G-A c.2041+11887C>T - IntronicSNV - 11/28 1
2-29487275-C-G c.2041+10690G>C - IntronicSNV - 11/28 2
2-29487275-C-T c.2041+10690G>A - IntronicSNV - 11/28 2
2-29487405-A-G c.2041+10560T>C - IntronicSNV - 11/28 2
2-29487527-C-A c.2041+10438G>T - IntronicSNV - 11/28 1
2-29489620-C-G c.2041+8345G>C - IntronicSNV - 11/28 1
2-29489620-C-T c.2041+8345G>A - IntronicSNV - 11/28 1
2-29497965-C-G c.2041G>C p.Val681Leu Missense 11/29 - 1
2-29497967-G-A c.2039C>T p.Thr680Ile Missense 11/29 - 5
2-29497972-G-C c.2034C>G p.Asp678Glu Missense 11/29 - 1
2-29497972-G-T c.2034C>A p.Asp678Glu Missense 11/29 - 1
2-29497984-GG-TG c.2022delinsA p.Thr674Thr Missense 11/29 - 1
2-29497985-G-A c.2021C>T p.Thr674Ile Missense 11/29 - 11
2-29497989-G-A c.2017C>T p.Gln673* Nonsense 11/29 - 1
2-29497990-TC-TG c.2015delinsC p.Arg672Thr Missense 11/29 - 1
2-29497992-T-C c.2014A>G p.Arg672Gly Missense 11/29 - 1
2-29497995-G-A c.2011C>T p.Pro671Ser Missense 11/29 - 1
2-29498005-CCC-AGC c.2000_2001delinsCT p.Gly667Ala Missense 11/29 - 1
2-29498005-CCC-TGT c.1999_2001delinsACA p.Gly667Thr Missense 11/29 - 8
2-29498030-TT-CT c.1976delinsG p.Asn659Ser Missense 11/29 - 1
2-29498031-T-A c.1975A>T p.Asn659Tyr Missense 11/29 - 1
2-29498034-T-A c.1972A>T p.Arg658* Nonsense 11/29 - 1
2-29498039-AA-GA c.1967delinsC p.Phe656Ser Missense 11/29 - 1
2-29498042-AG-AA c.1963delinsT p.Leu655Leu Missense 11/29 - 1
2-29498047-TCT-CAT c.1958_1959delinsTG p.Arg653Met Missense 11/29 - 1
2-29498063-G-A c.1943C>T p.Thr648Ile Missense 11/29 - 1
2-29498066-T-A c.1940A>T p.Asn647Ile Missense 11/29 - 2
2-29498084-T-C c.1922A>G p.Glu641Gly Missense 11/29 - 1
2-29498087-C-T c.1919G>A p.Gly640Glu Missense 11/29 - 1
2-29498210-A-G c.1912+58T>C - IntronicSNV - 10/28 2
2-29498268-T-A c.1912A>T p.Ile638Phe Missense 10/29 - 1
2-29498278-G-C c.1902C>G p.Cys634Trp Missense 10/29 - 1
2-29498279-C-A c.1901G>T p.Cys634Phe Missense 10/29 - 1
2-29498279-C-T c.1901G>A p.Cys634Tyr Missense 10/29 - 1
2-29498280-A-G c.1900T>C p.Cys634Arg Missense 10/29 - 1
2-29498288-C-A c.1892G>T p.Ser631Ile Missense 10/29 - 1
2-29498304-C-G c.1876G>C p.Asp626His Missense 10/29 - 1
2-29498327-C-T c.1853G>A p.Gly618Glu Missense 10/29 - 1
2-29498328-C-G c.1852G>C p.Gly618Arg Missense 10/29 - 1
2-29498328-C-T c.1852G>A p.Gly618Arg Missense 10/29 - 1
2-29498352-G-A c.1828C>T p.Gln610* Nonsense 10/29 - 1
2-29498353-C-T c.1827G>A p.Leu609Leu Synonymous 10/29 - 1
2-29499442-A-G c.1818-1080T>C - IntronicSNV - 9/28 1
2-29499956-A-G c.1818-1594T>C - IntronicSNV - 9/28 1
2-29500455-T-G c.1818-2093A>C - IntronicSNV - 9/28 1
2-29501720-C-G c.1818-3358G>C - IntronicSNV - 9/28 1
2-29502690-T-C c.1818-4328A>G - IntronicSNV - 9/28 1
2-29505824-G-T c.1818-7462C>A - IntronicSNV - 9/28 1
2-29506693-A-G c.1818-8331T>C - IntronicSNV - 9/28 1
2-29506747-C-A c.1818-8385G>T - IntronicSNV - 9/28 1
2-29506767-T-C c.1818-8405A>G - IntronicSNV - 9/28 1
2-29513951-A-T c.1817+5803T>A - IntronicSNV - 9/28 1
2-29514509-C-T c.1817+5245G>A - IntronicSNV - 9/28 1
2-29516893-A-C c.1817+2861T>G - IntronicSNV - 9/28 1
2-29516893-A-G c.1817+2861T>C - IntronicSNV - 9/28 1
2-29516893-A-T c.1817+2861T>A - IntronicSNV - 9/28 1
2-29519746-G-C c.1817+8C>G - IntronicSNV - 9/28 1
2-29519762-CA-AC c.1808_1809delinsGT p.Val603Gly Missense 9/29 - 1
2-29519766-T-A c.1805A>T p.Asp602Val Missense 9/29 - 1
2-29519772-A-T c.1799T>A p.Leu600His Missense 9/29 - 2
2-29519781-A-G c.1790T>C p.Val597Ala Missense 9/29 - 2
2-29519790-T-A c.1781A>T p.Gln594Leu Missense 9/29 - 1
2-29519818-C-T c.1753G>A p.Ala585Thr Missense 9/29 - 2
2-29519835-CT-CA c.1735delinsT p.Arg579Trp Missense 9/29 - 1
2-29519837-GCC-TGA c.1732_1734delinsTCA p.Gly578Ser Nonsense 9/29 - 1
2-29519866-C-T c.1705G>A p.Val569Met Missense 9/29 - 1
2-29519867-TAG-TTT c.1702_1703delinsAA p.Leu568Lys Missense 9/29 - 1
2-29519891-C-A c.1680G>T p.Leu560Phe Missense 9/29 - 6
2-29519891-C-G c.1680G>C p.Leu560Phe Missense 9/29 - 6
2-29519895-A-T c.1676T>A p.Val559Asp Missense 9/29 - 8
2-29519898-C-A c.1673G>T p.Gly558Val Missense 9/29 - 1
2-29519899-C-T c.1672G>A p.Gly558Arg Missense 9/29 - 1
2-29519900-AC-AA c.1670delinsT p.Arg557Leu Missense 9/29 - 1
2-29519909-C-A c.1662G>T p.Trp554Cys Missense 9/29 - 1
2-29519909-C-G c.1662G>C p.Trp554Cys Missense 9/29 - 1
2-29519909-C-T c.1662G>A p.Trp554* Nonsense 9/29 - 1
2-29519910-C-T c.1661G>A p.Trp554* Nonsense 9/29 - 1
2-29519917-T-A c.1654A>T p.Met552Leu Missense 9/29 - 1
2-29519917-T-G c.1654A>C p.Met552Leu Missense 9/29 - 1
2-29519923-G-A c.1648C>T p.Leu550Phe Missense 9/29 - 1
2-29519923-G-T c.1648C>A p.Leu550Ile Missense 9/29 - 1
2-29520455-C-T c.1648-532G>A - IntronicSNV - 8/28 1
2-29522739-C-T c.1648-2816G>A - IntronicSNV - 8/28 1
2-29523032-G-A c.1648-3109C>T - IntronicSNV - 8/28 1
2-29533736-C-T c.1647+7434G>A - IntronicSNV - 8/28 1
2-29533782-C-T c.1647+7388G>A - IntronicSNV - 8/28 1
2-29534329-T-A c.1647+6841A>T - IntronicSNV - 8/28 1
2-29534329-T-C c.1647+6841A>G - IntronicSNV - 8/28 1
2-29535197-C-T c.1647+5973G>A - IntronicSNV - 8/28 2
2-29536711-G-A c.1647+4459C>T - IntronicSNV - 8/28 1
2-29538411-G-A c.1647+2759C>T - IntronicSNV - 8/28 11
2-29538642-C-T c.1647+2528G>A - IntronicSNV - 8/28 1
2-29538860-G-A c.1647+2310C>T - IntronicSNV - 8/28 1
2-29539536-T-C c.1647+1634A>G - IntronicSNV - 8/28 1
2-29541104-C-A c.1647+66G>T - IntronicSNV - 8/28 3
2-29541104-C-G c.1647+66G>C - IntronicSNV - 8/28 3
2-29541104-C-T c.1647+66G>A - IntronicSNV - 8/28 3
2-29541175-A-C c.1642T>G p.Cys548Gly Missense 8/29 - 1
2-29541192-G-C c.1625C>G p.Pro542Arg Missense 8/29 - 3
2-29541195-G-A c.1622C>T p.Ala541Val Missense 8/29 - 1
2-29541196-C-A c.1621G>T p.Ala541Ser Missense 8/29 - 1
2-29541201-A-C c.1616T>G p.Phe539Cys Missense 8/29 - 1
2-29541219-G-A c.1598C>T p.Thr533Ile Missense 8/29 - 1
2-29541224-ACT-TGG c.1591_1593delinsCCA p.Ser531Pro Missense 8/29 - 1
2-29541229-C-G c.1588G>C p.Glu530Gln Missense 8/29 - 1
2-29541264-G-A c.1553C>T p.Ala518Val Missense 8/29 - 1
2-29541270-T-A c.1547A>T p.Asp516Val Missense 8/29 - 1
2-29541299-C-A c.1547-29G>T - IntronicSNV - 7/28 1
2-29541299-C-T c.1547-29G>A - IntronicSNV - 7/28 1
2-29542340-C-G c.1547-1070G>C - IntronicSNV - 7/28 1
2-29542340-C-T c.1547-1070G>A - IntronicSNV - 7/28 1
2-29542498-T-C c.1546+1119A>G - IntronicSNV - 7/28 1
2-29543023-C-T c.1546+594G>A - IntronicSNV - 7/28 1
2-29543135-A-G c.1546+482T>C - IntronicSNV - 7/28 1
2-29543514-C-T c.1546+103G>A - IntronicSNV - 7/28 1
2-29543617-C-A c.1546G>T p.Asp516Tyr Missense 7/29 - 1
2-29543635-G-A c.1528C>T p.Arg510Trp Missense 7/29 - 1
2-29543642-C-A c.1521G>T p.Lys507Asn Missense 7/29 - 1
2-29543642-C-G c.1521G>C p.Lys507Asn Missense 7/29 - 1
2-29543651-CCT-CAT c.1511delinsT p.Arg504Met Missense 7/29 - 1
2-29543651-CCT-TGT c.1511_1512delinsCA p.Arg504Thr Missense 7/29 - 1
2-29543663-T-C c.1500A>G p.Gln500Gln Synonymous 7/29 - 8
2-29543663-T-G c.1500A>C p.Gln500His Missense 7/29 - 6
2-29543676-G-A c.1487C>T p.Pro496Leu Missense 7/29 - 3
2-29543706-A-G c.1457T>C p.Phe486Ser Missense 7/29 - 2
2-29543705-G-C c.1458C>G p.Phe486Leu Missense 7/29 - 1
2-29543705-G-T c.1458C>A p.Phe486Leu Missense 7/29 - 1
2-29543707-A-G c.1456T>C p.Phe486Leu Missense 7/29 - 1
2-29543732-AA-A c.1435del p.Tyr479Thrfs*28 Frameshift 7/29 - 1
2-29543733-C-G c.1430G>C p.Gly477Ala Missense 7/29 - 1
2-29543736-A-G c.1427T>C p.Val476Ala Missense 7/29 - 6
2-29543737-C-A c.1426G>T p.Val476Leu Missense 7/29 - 1
2-29543737-C-G c.1426G>C p.Val476Leu Missense 7/29 - 1
2-29544512-C-T c.1415-764G>A - IntronicSNV - 6/28 1
2-29544835-G-C c.1415-1087C>G - IntronicSNV - 6/28 1
2-29544929-C-A c.1415-1181G>T - IntronicSNV - 6/28 1
2-29544929-C-T c.1415-1181G>A - IntronicSNV - 6/28 1
2-29545291-A-T c.1415-1543T>A - IntronicSNV - 6/28 1
2-29545378-T-A c.1415-1630A>T - IntronicSNV - 6/28 1
2-29545378-T-C c.1415-1630A>G - IntronicSNV - 6/28 1
2-29545378-T-G c.1415-1630A>C - IntronicSNV - 6/28 1
2-29546758-G-T c.1415-3010C>A - IntronicSNV - 6/28 1
2-29550381-A-G c.1414+835T>C - IntronicSNV - 6/28 1
2-29551218-CA-AC c.1411_1412delinsGT p.Cys471Val Missense 6/29 - 1
2-29551222-T-A c.1408A>T p.Met470Leu Missense 6/29 - 1
2-29551222-T-G c.1408A>C p.Met470Leu Missense 6/29 - 1
2-29551226-G-C c.1404C>G p.Ser468Arg Missense 6/29 - 1
2-29551226-G-T c.1404C>A p.Ser468Arg Missense 6/29 - 1
2-29551228-T-G c.1402A>C p.Ser468Arg Missense 6/29 - 1
2-29551234-C-T c.1396G>A p.Asp466Asn Missense 6/29 - 1
2-29551237-C-A c.1393G>T p.Glu465* Nonsense 6/29 - 1
2-29551239-C-A c.1391G>T p.Gly464Val Missense 6/29 - 2
2-29551239-C-T c.1391G>A p.Gly464Glu Missense 6/29 - 1
2-29551245-G-A c.1385C>T p.Ala462Val Missense 6/29 - 1
2-29551273-G-A c.1357C>T p.Gln453* Nonsense 6/29 - 1
2-29551275-C-G c.1355G>C p.Gly452Ala Missense 6/29 - 1
2-29551285-G-T c.1345C>A p.Leu449Ile Missense 6/29 - 1
2-29551292-CC-AC c.1338delinsT p.Gly446Gly Missense 6/29 - 1
2-29551294-C-G c.1336G>C p.Gly446Arg Missense 6/29 - 1
2-29551294-C-T c.1336G>A p.Gly446Arg Missense 6/29 - 1
2-29551298-C-A c.1332G>T p.Trp444Cys Missense 6/29 - 1
2-29551298-C-G c.1332G>C p.Trp444Cys Missense 6/29 - 1
2-29551329-T-C c.1301A>G p.Lys434Arg Missense 6/29 - 1
2-29554071-C-T c.1283-2724G>A - IntronicSNV - 5/28 1
2-29569562-C-A c.1283-18215G>T - IntronicSNV - 5/28 1
2-29569562-C-T c.1283-18215G>A - IntronicSNV - 5/28 1
2-29572299-A-C c.1283-20952T>G - IntronicSNV - 5/28 1
2-29572299-A-G c.1283-20952T>C - IntronicSNV - 5/28 1
2-29572645-A-C c.1283-21298T>G - IntronicSNV - 5/28 1
2-29574875-T-C c.1283-23528A>G - IntronicSNV - 5/28 2
2-29581762-C-T c.1282+24836G>A - IntronicSNV - 5/28 1
2-29583321-C-T c.1282+23277G>A - IntronicSNV - 5/28 1
2-29596488-G-T c.1282+10110C>A - IntronicSNV - 5/28 1
2-29604977-G-T c.1282+1621C>A - IntronicSNV - 5/28 1
2-29606597-C-A c.1282+1G>T - IntronicSNV - 5/28 1
2-29606612-T-C c.1268A>G p.Lys423Arg Missense 5/29 - 1
2-29606619-C-A c.1261G>T p.Ala421Ser Missense 5/29 - 1
2-29606620-A-G c.1260T>C p.Phe420Phe Synonymous 5/29 - 1
2-29606622-A-G c.1258T>C p.Phe420Leu Missense 5/29 - 1
2-29606642-C-T c.1238G>A p.Ser413Asn Missense 5/29 - 2
2-29606644-GCG-TGA c.1234_1236delinsTCA p.Arg412Ser Nonsense 5/29 - 1
2-29606646-G-A c.1234C>T p.Arg412Cys Missense 5/29 - 2
2-29606657-G-T c.1223C>A p.Ser408Tyr Missense 5/29 - 1
2-29606667-C-A c.1213G>T p.Glu405* Nonsense 5/29 - 1
2-29606667-C-T c.1213G>A p.Glu405Lys Missense 5/29 - 1
2-29606678-C-G c.1202G>C p.Arg401Pro Missense 5/29 - 1
2-29606679-G-A c.1201C>T p.Arg401* Nonsense 5/29 - 3
2-29606691-C-T c.1189G>A p.Asp397Asn Missense 5/29 - 1
2-29606696-C-T c.1184G>A p.Arg395His Missense 5/29 - 1
2-29606698-CCC-AGC c.1181_1182delinsCT p.Gly394Ala Missense 5/29 - 1
2-29606702-A-C c.1178T>G p.Ile393Ser Missense 5/29 - 1
2-29606709-C-G c.1171G>C p.Gly391Arg Missense 5/29 - 2
2-29606709-C-T c.1171G>A p.Gly391Arg Missense 5/29 - 2
2-29607852-G-T c.1155-1127C>A - IntronicSNV - 4/28 1
2-29615864-C-T c.1155-9139G>A - IntronicSNV - 4/28 1
2-29624166-G-T c.1155-17441C>A - IntronicSNV - 4/28 1
2-29634610-T-C c.1155-27885A>G - IntronicSNV - 4/28 1
2-29651030-C-T c.1155-44305G>A - IntronicSNV - 4/28 1
2-29659854-A-C c.1155-53129T>G - IntronicSNV - 4/28 1
2-29667653-C-T c.1155-60928G>A - IntronicSNV - 4/28 1
2-29667813-G-A c.1155-61088C>T - IntronicSNV - 4/28 1
2-29680753-C-A c.1154+74028G>T - IntronicSNV - 4/28 1
2-29680753-C-T c.1154+74028G>A - IntronicSNV - 4/28 1
2-29683558-C-T c.1154+71223G>A - IntronicSNV - 4/28 1
2-29685596-C-A c.1154+69185G>T - IntronicSNV - 4/28 1
2-29685596-C-G c.1154+69185G>C - IntronicSNV - 4/28 1
2-29685596-C-T c.1154+69185G>A - IntronicSNV - 4/28 1
2-29691960-T-A c.1154+62821A>T - IntronicSNV - 4/28 1
2-29691960-T-C c.1154+62821A>G - IntronicSNV - 4/28 1
2-29702682-A-G c.1154+52099T>C - IntronicSNV - 4/28 1
2-29709883-G-A c.1154+44898C>T - IntronicSNV - 4/28 1
2-29727557-T-G c.1154+27224A>C - IntronicSNV - 4/28 1
2-29733405-C-T c.1154+21376G>A - IntronicSNV - 4/28 1
2-29733801-G-A c.1154+20980C>T - IntronicSNV - 4/28 1
2-29743733-T-C c.1154+11048A>G - IntronicSNV - 4/28 4
2-29745985-G-A c.1154+8796C>T - IntronicSNV - 4/28 1
2-29745985-G-T c.1154+8796C>A - IntronicSNV - 4/28 1
2-29746088-C-G c.1154+8693G>C - IntronicSNV - 4/28 1
2-29746681-T-A c.1154+8100A>T - IntronicSNV - 4/28 1
2-29747174-C-G c.1154+7607G>C - IntronicSNV - 4/28 1
2-29747174-C-T c.1154+7607G>A - IntronicSNV - 4/28 1
2-29747422-A-T c.1154+7359T>A - IntronicSNV - 4/28 1
2-29748162-T-C c.1154+6619A>G - IntronicSNV - 4/28 1
2-29750188-G-A c.1154+4593C>T - IntronicSNV - 4/28 1
2-29750188-G-T c.1154+4593C>A - IntronicSNV - 4/28 1
2-29751631-C-A c.1154+3150G>T - IntronicSNV - 4/28 1
2-29752367-A-G c.1154+2414T>C - IntronicSNV - 4/28 1
2-29752694-C-A c.1154+2087G>T - IntronicSNV - 4/28 1
2-29754800-G-A c.1135C>T p.Pro379Ser Missense 4/29 - 1
2-29754819-T-A c.1116A>T p.Ala372Ala Synonymous 4/29 - 1
2-29754819-T-C c.1116A>G p.Ala372Ala Synonymous 4/29 - 1
2-29754819-T-G c.1116A>C p.Ala372Ala Synonymous 4/29 - 1
2-29754824-C-T c.1111G>A p.Ala371Thr Missense 4/29 - 1
2-29754827-C-T c.1108G>A p.Glu370Lys Missense 4/29 - 1
2-29754833-G-A c.1102C>T p.His368Tyr Missense 4/29 - 1
2-29754835-G-C c.1100C>G p.Pro367Arg Missense 4/29 - 1
2-29754849-CAA-C c.1085_1086del p.Ile362Serfs*65 Frameshift 4/29 - 1
2-29754873-G-C c.1062C>G p.His354Gln Missense 4/29 - 1
2-29754876-CCT-TGT c.1058_1059delinsCA p.Arg353Thr Missense 4/29 - 1
2-29754877-C-T c.1058G>A p.Arg353Lys Missense 4/29 - 1
2-29754883-A-G c.1052T>C p.Val351Ala Missense 4/29 - 1
2-29754892-G-T c.1043C>A p.Ala348Asp Missense 4/29 - 2
2-29754893-C-T c.1042G>A p.Ala348Thr Missense 4/29 - 1
2-29754925-C-T c.1010G>A p.Trp337* Nonsense 4/29 - 1
2-29754931-C-T c.1004G>A p.Ser335Asn Missense 4/29 - 1
2-29754944-G-A c.991C>T p.His331Tyr Missense 4/29 - 1
2-29754957-TG-GT c.977_978delinsAC p.Ser326Tyr Missense 4/29 - 1
2-29754971-G-T c.964C>A p.Leu322Ile Missense 4/29 - 1
2-29754974-G-T c.961C>A p.Leu321Ile Missense 4/29 - 1
2-29755003-C-T c.953-21G>A - IntronicSNV - 3/28 1
2-29759962-G-C c.953-4980C>G - IntronicSNV - 3/28 1
2-29759962-G-T c.953-4980C>A - IntronicSNV - 3/28 1
2-29760424-C-A c.953-5442G>T - IntronicSNV - 3/28 1
2-29764460-C-T c.953-9478G>A - IntronicSNV - 3/28 1
2-29766613-C-T c.953-11631G>A - IntronicSNV - 3/28 1
2-29766861-A-T c.953-11879T>A - IntronicSNV - 3/28 1
2-29767668-A-G c.953-12686T>C - IntronicSNV - 3/28 1
2-29767894-C-A c.953-12912G>T - IntronicSNV - 3/28 1
2-29767894-C-T c.953-12912G>A - IntronicSNV - 3/28 1
2-29775671-G-A c.953-20689C>T - IntronicSNV - 3/28 1
2-29778849-A-C c.953-23867T>G - IntronicSNV - 3/28 1
2-29783021-T-C c.953-28039A>G - IntronicSNV - 3/28 1
2-29785781-G-A c.953-30799C>T - IntronicSNV - 3/28 1
2-29785781-G-T c.953-30799C>A - IntronicSNV - 3/28 1
2-29786204-G-C c.953-31222C>G - IntronicSNV - 3/28 1
2-29788934-A-T c.953-33952T>A - IntronicSNV - 3/28 1
2-29795988-T-G c.953-41006A>C - IntronicSNV - 3/28 1
2-29808502-G-A c.953-53520C>T - IntronicSNV - 3/28 1
2-29809861-G-A c.953-54879C>T - IntronicSNV - 3/28 1
2-29811383-C-T c.953-56401G>A - IntronicSNV - 3/28 1
2-29818291-A-G c.953-63309T>C - IntronicSNV - 3/28 1
2-29823652-A-G c.953-68670T>C - IntronicSNV - 3/28 1
2-29829760-A-G c.953-74778T>C - IntronicSNV - 3/28 1
2-29864652-G-C c.952+53064C>G - IntronicSNV - 3/28 1
2-29864652-G-T c.952+53064C>A - IntronicSNV - 3/28 1
2-29866175-C-T c.952+51541G>A - IntronicSNV - 3/28 1
2-29866206-A-G c.952+51510T>C - IntronicSNV - 3/28 1
2-29866218-T-A c.952+51498A>T - IntronicSNV - 3/28 1
2-29868259-A-G c.952+49457T>C - IntronicSNV - 3/28 1
2-29876343-G-A c.952+41373C>T - IntronicSNV - 3/28 2
2-29878371-G-A c.952+39345C>T - IntronicSNV - 3/28 1
2-29880877-C-A c.952+36839G>T - IntronicSNV - 3/28 1
2-29880877-C-T c.952+36839G>A - IntronicSNV - 3/28 1
2-29889019-C-A c.952+28697G>T - IntronicSNV - 3/28 1
2-29913145-C-T c.952+4571G>A - IntronicSNV - 3/28 1
2-29917717-TCT-TGT c.950delinsC p.Arg317Thr Missense 3/29 - 1
2-29917718-CT-CC c.949delinsG p.Arg317Gly Missense 3/29 - 1
2-29917736-C-T c.932G>A p.Arg311His Missense 3/29 - 3
2-29917738-C-A c.930G>T p.Glu310Asp Missense 3/29 - 1
2-29917738-C-G c.930G>C p.Glu310Asp Missense 3/29 - 1
2-29917767-T-A c.901A>T p.Met301Leu Missense 3/29 - 1
2-29917776-C-A c.892G>T p.Ala298Ser Missense 3/29 - 1
2-29917782-C-G c.886G>C p.Glu296Gln Missense 3/29 - 1
2-29917782-C-T c.886G>A p.Glu296Lys Missense 3/29 - 1
2-29917784-G-A c.884C>T p.Ser295Phe Missense 3/29 - 1
2-29917793-C-T c.875G>A p.Arg292His Missense 3/29 - 3
2-29917794-G-A c.874C>T p.Arg292Cys Missense 3/29 - 3
2-29917795-GC-AA c.872_873delinsTT p.Arg291Leu Missense 3/29 - 1
2-29917796-C-T c.872G>A p.Arg291His Missense 3/29 - 2
2-29917797-G-A c.871C>T p.Arg291Cys Missense 3/29 - 1
2-29917798-C-A c.870G>T p.Trp290Cys Missense 3/29 - 1
2-29917798-C-G c.870G>C p.Trp290Cys Missense 3/29 - 1
2-29917802-GA-AT c.865_866delinsAT p.Ser289Ile Missense 3/29 - 1
2-29917802-G-T c.866C>A p.Ser289Tyr Missense 3/29 - 1
2-29917821-G-A c.847C>T p.Leu283Phe Missense 3/29 - 1
2-29917831-GT-G c.837del p.Leu280Cysfs*55 Frameshift 3/29 - 1
2-29917835-G-A c.833C>T p.Pro278Leu Missense 3/29 - 1
2-29917835-G-C c.833C>G p.Pro278Arg Missense 3/29 - 2
2-29917836-G-A c.832C>T p.Pro278Ser Missense 3/29 - 1
2-29917836-G-C c.832C>G p.Pro278Ala Missense 3/29 - 1
2-29917841-T-C c.827A>G p.Tyr276Cys Missense 3/29 - 1
2-29917841-T-G c.827A>C p.Tyr276Ser Missense 3/29 - 1
2-29917842-A-T c.826T>A p.Tyr276Asn Missense 3/29 - 1
2-29917843-C-T c.825G>A p.Glu275Glu Synonymous 3/29 - 1
2-29917844-T-TA c.823_824insT p.Glu275Valfs*8 Frameshift 3/29 - 1
2-29917859-A-G c.809T>C p.Phe270Ser Missense 3/29 - 1
2-29917868-C-A c.800G>T p.Ser267Ile Missense 3/29 - 1
2-29917876-CAG-ATC c.790_792delinsGAT p.Leu264Asp Missense 3/29 - 1
2-29917940-C-A c.788-60G>T - IntronicSNV - 2/28 1
2-29917940-C-G c.788-60G>C - IntronicSNV - 2/28 1
2-29922977-C-A c.788-5097G>T - IntronicSNV - 2/28 1
2-29940449-C-T c.782G>A p.Arg261Gln Missense 2/29 - 1
2-29940451-G-C c.780C>G p.Ser260Arg Missense 2/29 - 1
2-29940451-G-T c.780C>A p.Ser260Arg Missense 2/29 - 1
2-29940453-T-G c.778A>C p.Ser260Arg Missense 2/29 - 1
2-29940460-AG-GG c.771delinsC p.Ser257Ser Missense 2/29 - 1
2-29940461-G-A c.770C>T p.Ser257Phe Missense 2/29 - 1
2-29940461-GA-CT c.769_770delinsAG p.Ser257Ser Missense 2/29 - 1
2-29940462-A-G c.769T>C p.Ser257Pro Missense 2/29 - 1
2-29940464-AG-AC c.766delinsG p.Leu256Val Missense 2/29 - 1
2-29940464-A-T c.767T>A p.Leu256Gln Missense 2/29 - 2
2-29940465-G-T c.766C>A p.Leu256Met Missense 2/29 - 1
2-29940467-A-T c.764T>A p.Phe255Tyr Missense 2/29 - 1
2-29940470-G-T c.761C>A p.Pro254His Missense 2/29 - 1
2-29940485-AT-GC c.745_746delinsGC p.Met249Ala Missense 2/29 - 1
2-29940487-T-C c.744A>G p.Ile248Met Missense 2/29 - 1
2-29940489-T-C c.742A>G p.Ile248Val Missense 2/29 - 1
2-29940494-G-A c.737C>T p.Thr246Ile Missense 2/29 - 1
2-29940519-G-A c.712C>T p.Pro238Ser Missense 2/29 - 1
2-29940519-GGAG-G c.712_714del p.Pro238del InFrameDeletion 2/29 - 1
2-29940520-AGA-TTAGCTAAAAAGTGCTAC c.709_711delinsGTAGCACTTTTTAGCTAA p.Ser237delinsValAlaLeuPheSer* MultiAAMissense 2/29 - 1
2-29940522-A-G c.709T>C p.Ser237Pro Missense 2/29 - 1
2-29940529-A-C c.702T>G p.Pro234Pro Synonymous 2/29 - 8
2-29940529-A-T c.702T>A p.Pro234Pro Synonymous 2/29 - 11
2-29940557-GCT-G c.673_674del p.Ser225Leufs*14 Frameshift 2/29 - 1
2-29958841-C-G c.668-18278G>C - IntronicSNV - 1/28 1
2-29958841-C-T c.668-18278G>A - IntronicSNV - 1/28 1
2-29963324-A-G c.668-22761T>C - IntronicSNV - 1/28 1
2-29966380-T-C c.668-25817A>G - IntronicSNV - 1/28 1
2-29966870-G-A c.668-26307C>T - IntronicSNV - 1/28 1
2-29969390-A-G c.668-28827T>C - IntronicSNV - 1/28 1
2-29971794-T-A c.668-31231A>T - IntronicSNV - 1/28 1
2-29973281-A-C c.668-32718T>G - IntronicSNV - 1/28 1
2-29981286-G-A c.668-40723C>T - IntronicSNV - 1/28 2
2-29981286-G-C c.668-40723C>G - IntronicSNV - 1/28 2
2-29984708-C-A c.668-44145G>T - IntronicSNV - 1/28 1
2-29984708-C-T c.668-44145G>A - IntronicSNV - 1/28 1
2-29999161-A-C c.668-58598T>G - IntronicSNV - 1/28 1
2-29999790-C-G c.668-59227G>C - IntronicSNV - 1/28 4
2-29999790-C-T c.668-59227G>A - IntronicSNV - 1/28 4
2-30012952-T-A c.668-72389A>T - IntronicSNV - 1/28 1
2-30012952-T-C c.668-72389A>G - IntronicSNV - 1/28 1
2-30016786-C-T c.668-76223G>A - IntronicSNV - 1/28 1
2-30020416-C-T c.668-79853G>A - IntronicSNV - 1/28 1
2-30041479-T-C c.668-100916A>G - IntronicSNV - 1/28 1
2-30043558-C-T c.667+99301G>A - IntronicSNV - 1/28 1
2-30073650-T-C c.667+69209A>G - IntronicSNV - 1/28 1
2-30075404-A-G c.667+67455T>C - IntronicSNV - 1/28 1
2-30075802-T-A c.667+67057A>T - IntronicSNV - 1/28 1
2-30075802-T-C c.667+67057A>G - IntronicSNV - 1/28 1
2-30078957-T-A c.667+63902A>T - IntronicSNV - 1/28 1
2-30078957-T-C c.667+63902A>G - IntronicSNV - 1/28 1
2-30078957-T-G c.667+63902A>C - IntronicSNV - 1/28 1
2-30110249-C-A c.667+32610G>T - IntronicSNV - 1/28 1
2-30110249-C-T c.667+32610G>A - IntronicSNV - 1/28 1
2-30114154-G-C c.667+28705C>G - IntronicSNV - 1/28 1
2-30141950-C-G c.667+909G>C - IntronicSNV - 1/28 1
2-30142863-C-T c.663G>A p.Gly221Gly Synonymous 1/29 - 1
2-30142872-C-A c.654G>T p.Gln218His Missense 1/29 - 1
2-30142872-C-G c.654G>C p.Gln218His Missense 1/29 - 1
2-30142875-G-C c.651C>G p.Phe217Leu Missense 1/29 - 1
2-30142875-G-T c.651C>A p.Phe217Leu Missense 1/29 - 1
2-30142877-A-G c.649T>C p.Phe217Leu Missense 1/29 - 1
2-30142882-A-G c.644T>C p.Leu215Pro Missense 1/29 - 1
2-30142882-A-T c.644T>A p.Leu215His Missense 1/29 - 1
2-30142884-G-A c.642C>T p.Arg214Arg Synonymous 1/29 - 1
2-30142885-C-T c.641G>A p.Arg214His Missense 1/29 - 1
2-30142889-G-A c.637C>T p.Pro213Ser Missense 1/29 - 1
2-30142901-G-A c.625C>T p.Arg209Cys Missense 1/29 - 1
2-30142911-GGA-GAG c.613_614delinsCT p.Ser205Leu Missense 1/29 - 1
2-30142913-A-C c.613T>G p.Ser205Ala Missense 1/29 - 1
2-30142918-CT-CA c.607delinsT p.Arg203Trp Missense 1/29 - 1
2-30142926-CTCTGCCC-C c.595_601del p.Gly199Argfs*48 Frameshift 1/29 - 1
2-30142930-C-A c.596G>T p.Gly199Val Missense 1/29 - 1
2-30142931-C-A c.595G>T p.Gly199Cys Missense 1/29 - 1
2-30142943-C-T c.583G>A p.Ala195Thr Missense 1/29 - 1
2-30142944-C-A c.582G>T p.Lys194Asn Missense 1/29 - 1
2-30142944-C-G c.582G>C p.Lys194Asn Missense 1/29 - 1
2-30142945-T-A c.581A>T p.Lys194Met Missense 1/29 - 1
2-30142959-TC-T c.567del p.Met190Cysfs*59 Frameshift 1/29 - 1
2-30142966-A-G c.560T>C p.Ile187Thr Missense 1/29 - 1
2-30142984-C-A c.542G>T p.Gly181Val Missense 1/29 - 1
2-30142990-C-T c.536G>A p.Arg179His Missense 1/29 - 1
2-30142991-G-A c.535C>T p.Arg179Cys Missense 1/29 - 1
2-30142999-C-T c.527G>A p.Trp176* Nonsense 1/29 - 1
2-30143002-C-A c.524G>T p.Ser175Ile Missense 1/29 - 1
2-30143002-C-T c.524G>A p.Ser175Asn Missense 1/29 - 1
2-30143018-G-A c.508C>T p.Leu170Phe Missense 1/29 - 1
2-30143022-GA-AA c.504delinsT p.Phe168Phe Nonsense 1/29 - 1
2-30143038-A-G c.488T>C p.Val163Ala Missense 1/29 - 1
2-30143039-C-A c.487G>T p.Val163Leu Missense 1/29 - 4
2-30143045-CC-AA c.480_481delinsTT p.Glu160_Ala161delinsAspSer MultiAAMissense 1/29 - 1
2-30143053-G-A c.473C>T p.Pro158Leu Missense 1/29 - 1
2-30143054-G-T c.472C>A p.Pro158Thr Missense 1/29 - 1
2-30143056-G-T c.470C>A p.Pro157His Missense 1/29 - 1
2-30143065-C-A c.461G>T p.Cys154Phe Missense 1/29 - 1
2-30143071-CT-C c.455del p.Glu152Glyfs*34 Frameshift 1/29 - 1
2-30143077-A-G c.449T>C p.Ile150Thr Missense 1/29 - 1
2-30143078-AT-A c.448del p.Ile150Serfs*36 Frameshift 1/29 - 1
2-30143092-A-G c.434T>C p.Leu145Pro Missense 1/29 - 1
2-30143110-T-C c.416A>G p.Lys139Arg Missense 1/29 - 1
2-30143111-T-C c.415A>G p.Lys139Glu Missense 1/29 - 1
2-30143111-TT-T c.416del p.Lys139Serfs*47 Frameshift 1/29 - 1
2-30143113-G-A c.413C>T p.Ala138Val Missense 1/29 - 1
2-30143115-AC-AA c.410delinsT p.Arg137Leu Missense 1/29 - 1
2-30143117-G-C c.409C>G p.Arg137Gly Missense 1/29 - 1
2-30143121-G-C c.405C>G p.Leu135Leu Synonymous 1/29 - 1
2-30143134-G-A c.392C>T p.Ser131Phe Missense 1/29 - 1
2-30143139-G-C c.387C>G p.Gly129Gly Synonymous 1/29 - 1
2-30143139-G-T c.387C>A p.Gly129Gly Synonymous 1/29 - 1
2-30143151-C-A c.375G>T p.Arg125Ser Missense 1/29 - 1
2-30143151-CCT-TGT c.374_375delinsCA p.Arg125Thr Missense 1/29 - 1
2-30143156-A-G c.370T>C p.Ser124Pro Missense 1/29 - 1
2-30143173-G-A c.353C>T p.Ala118Val Missense 1/29 - 1
2-30143173-G-C c.353C>G p.Ala118Gly Missense 1/29 - 1
2-30143176-G-A c.350C>T p.Pro117Leu Missense 1/29 - 1
2-30143176-G-C c.350C>G p.Pro117Arg Missense 1/29 - 1
2-30143176-G-T c.350C>A p.Pro117Gln Missense 1/29 - 1
2-30143180-C-T c.346G>A p.Ala116Thr Missense 1/29 - 1
2-30143188-C-T c.338G>A p.Gly113Asp Missense 1/29 - 1
2-30143196-C-T c.330G>A p.Trp110* Nonsense 1/29 - 1
2-30143197-C-A c.329G>T p.Trp110Leu Missense 1/29 - 1
2-30143197-C-T c.329G>A p.Trp110* Nonsense 1/29 - 2
2-30143200-GA-CG c.325_326delinsCG p.Ser109Arg Missense 1/29 - 1
2-30143224-AA-GC c.301_302delinsGC p.Leu101Ala Missense 1/29 - 1
2-30143230-AG-GC c.295_296delinsGC p.Leu99Ala Missense 1/29 - 1
2-30143236-G-A c.290C>T p.Pro97Leu Missense 1/29 - 1
2-30143238-GG-AG c.288delinsT p.Ala96Ala Missense 1/29 - 1
2-30143247-CAG-TTT c.277_279delinsAAA p.Leu93Lys Missense 1/29 - 1
2-30143251-GC-TG c.274_275delinsCA p.Ala92His Missense 1/29 - 1
2-30143257-G-A c.269C>T p.Ser90Leu Missense 1/29 - 1
2-30143259-AG-A c.267del p.Ser90Argfs*2 Frameshift 1/29 - 1
2-30143260-C-A c.266G>T p.Gly89Val Missense 1/29 - 1
2-30143265-GG-AG c.261delinsT p.Ala87Ala Missense 1/29 - 1
2-30143270-C-T c.256G>A p.Glu86Lys Missense 1/29 - 1
2-30143273-G-C c.253C>G p.Pro85Ala Missense 1/29 - 4
2-30143275-CT-TA c.250_251delinsTA p.Arg84* Nonsense 1/29 - 1
2-30143280-A-C c.246T>G p.Ala82Ala Synonymous 1/29 - 1
2-30143280-A-G c.246T>C p.Ala82Ala Synonymous 1/29 - 1
2-30143280-A-T c.246T>A p.Ala82Ala Synonymous 1/29 - 1
2-30143291-C-G c.235G>C p.Glu79Gln Missense 1/29 - 1
2-30143298-GG-AA c.227_228delinsTT p.Ser76Phe Nonsense 1/29 - 1
2-30143317-TC-TG c.208delinsC p.Asp70His Missense 1/29 - 1
2-30143321-G-A c.205C>T p.Arg69Trp Missense 1/29 - 1
2-30143323-GC-TG c.202_203delinsCA p.Ala68His Missense 1/29 - 2
2-30143323-G-T c.203C>A p.Ala68Asp Missense 1/29 - 1
2-30143337-GAG-TAA c.187_189delinsTTA p.Leu63Leu Nonsense 1/29 - 1
2-30143339-G-C c.187C>G p.Leu63Val Missense 1/29 - 1
2-30143347-A-AGCGCTGCGG c.178_179insCCGCAGCGC p.Val60delinsAlaAlaAlaLeu MultiAAMissense 1/29 - 1
2-30143352-G-T c.174C>A p.Phe58Leu Missense 1/29 - 1
2-30143361-T-A c.165A>T p.Ala55Ala Synonymous 1/29 - 1
2-30143361-T-C c.165A>G p.Ala55Ala Synonymous 1/29 - 1
2-30143361-T-G c.165A>C p.Ala55Ala Synonymous 1/29 - 1
2-30143361-TGC-TGG c.163delinsC p.Ala55Pro Missense 1/29 - 1
2-30143362-GC-AG c.163_164delinsCT p.Ala55Leu Missense 1/29 - 1
2-30143362-G-T c.164C>A p.Ala55Glu Missense 1/29 - 1
2-30143371-T-C c.155A>G p.Lys52Arg Missense 1/29 - 1
2-30143392-CT-CC c.133delinsG p.Ser45Gly Missense 1/29 - 2
2-30143392-CT-TT c.134delinsA p.Ser45Asn Missense 1/29 - 1
2-30143404-C-G c.122G>C p.Arg41Pro Missense 1/29 - 1
2-30143407-G-A c.119C>T p.Pro40Leu Missense 1/29 - 1
2-30143407-G-T c.119C>A p.Pro40His Missense 1/29 - 1
2-30143411-G-C c.115C>G p.Gln39Glu Missense 1/29 - 1
2-30143415-CGG-TGT c.109_111delinsACA p.Pro37Thr Missense 1/29 - 1
2-30143416-G-A c.110C>T p.Pro37Leu Missense 1/29 - 1
2-30143416-G-C c.110C>G p.Pro37Arg Missense 1/29 - 1
2-30143419-GG-TA c.106_107delinsTA p.Pro36* Nonsense 1/29 - 1
2-30143420-G-A c.106C>T p.Pro36Ser Missense 1/29 - 1
2-30143422-C-G c.104G>C p.Gly35Ala Missense 1/29 - 1
2-30143423-C-G c.103G>C p.Gly35Arg Missense 1/29 - 1
2-30143423-C-T c.103G>A p.Gly35Arg Missense 1/29 - 1
2-30143424-CG-AC c.101_102delinsGT p.Ala34Gly Missense 1/29 - 1
2-30143428-G-A c.98C>T p.Ala33Val Missense 1/29 - 1
2-30143428-G-C c.98C>G p.Ala33Gly Missense 1/29 - 1
2-30143428-GC-TT c.97_98delinsAA p.Ala33Asn Missense 1/29 - 1
2-30143428-G-T c.98C>A p.Ala33Asp Missense 1/29 - 1
2-30143429-C-A c.97G>T p.Ala33Ser Missense 1/29 - 1
2-30143431-GG-TA c.94_95delinsTA p.Pro32* Nonsense 1/29 - 1
2-30143436-G-A c.90C>T p.Gly30Gly Synonymous 1/29 - 1
2-30143436-G-C c.90C>G p.Gly30Gly Synonymous 1/29 - 1
2-30143436-G-T c.90C>A p.Gly30Gly Synonymous 1/29 - 1
2-30143440-G-T c.86C>A p.Ala29Glu Missense 1/29 - 1
2-30143443-CG-AT c.82_83delinsAT p.Arg28Ile Missense 1/29 - 1
2-30143452-G-C c.74C>G p.Thr25Ser Missense 1/29 - 1
2-30143453-T-A c.73A>T p.Thr25Ser Missense 1/29 - 1
2-30143455-C-T c.71G>A p.Gly24Glu Missense 1/29 - 1
2-30143465-A-C c.61T>G p.Ser21Ala Missense 1/29 - 2
2-30143474-C-A c.52G>T p.Ala18Ser Missense 1/29 - 1
2-30143474-C-G c.52G>C p.Ala18Pro Missense 1/29 - 1
2-30143477-C-T c.49G>A p.Ala17Thr Missense 1/29 - 2
2-30143480-T-A c.46A>T p.Thr16Ser Missense 1/29 - 1
2-30143483-A-C c.43T>G p.Ser15Ala Missense 1/29 - 5
2-30143484-AAG-GAG c.42delinsC p.Leu14Leu Missense 1/29 - 1
2-30143488-AG-GC c.37_38delinsGC p.Leu13Ala Missense 1/29 - 2
2-30143493-C-A c.33G>T p.Pro11Pro Synonymous 1/29 - 1
2-30143493-C-T c.33G>A p.Pro11Pro Synonymous 1/29 - 1
2-30143497-AG-GC c.28_29delinsGC p.Leu10Ala Missense 1/29 - 1
2-30143499-G-A c.27C>T p.Leu9Leu Synonymous 1/29 - 1
2-30143499-G-C c.27C>G p.Leu9Leu Synonymous 1/29 - 7
2-30143499-G-T c.27C>A p.Leu9Leu Synonymous 1/29 - 1
2-30143508-G-A c.18C>T p.Leu6Leu Synonymous 1/29 - 1
2-30143508-G-C c.18C>G p.Leu6Leu Synonymous 1/29 - 1
2-30143508-G-T c.18C>A p.Leu6Leu Synonymous 1/29 - 1
2-30143514-G-C c.12C>G p.Ile4Met Missense 1/29 - 1
2-30143517-G-A c.9C>T p.Ala3Ala Synonymous 1/29 - 1
2-30143517-G-C c.9C>G p.Ala3Ala Synonymous 1/29 - 1
2-30143517-G-T c.9C>A p.Ala3Ala Synonymous 1/29 - 1
2-30143520-T-A c.6A>T p.Gly2Gly Synonymous 1/29 - 2
2-30143520-T-C c.6A>G p.Gly2Gly Synonymous 1/29 - 2
2-30143520-T-G c.6A>C p.Gly2Gly Synonymous 1/29 - 2
2-30143524-CATC-C c.1_3del p.Met1? CdsStartDeletion 1/29 - 1