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 |