NM_000255.4(MMUT):c.2150G>T (p.Gly717Val)
|
rs121918252
|
0.00021
|
NM_000255.4(MMUT):c.2026G>A (p.Ala676Thr)
|
rs147715336
|
0.00011
|
NM_000255.4(MMUT):c.1106G>A (p.Arg369His)
|
rs564069299
|
0.00006
|
NM_000255.4(MMUT):c.1924G>C (p.Gly642Arg)
|
rs747897332
|
0.00006
|
NM_000255.4(MMUT):c.947A>G (p.Tyr316Cys)
|
rs781474200
|
0.00006
|
NM_000255.4(MMUT):c.1207C>T (p.Arg403Ter)
|
rs727504020
|
0.00005
|
NM_000255.4(MMUT):c.1105C>T (p.Arg369Cys)
|
rs772552898
|
0.00004
|
NM_000255.4(MMUT):c.278G>A (p.Arg93His)
|
rs121918251
|
0.00004
|
NM_000255.4(MMUT):c.280G>A (p.Gly94Arg)
|
rs727504022
|
0.00004
|
NM_000255.4(MMUT):c.572C>A (p.Ala191Glu)
|
rs760782399
|
0.00004
|
NM_000255.4(MMUT):c.850G>T (p.Gly284Ter)
|
rs761477436
|
0.00004
|
NM_000255.4(MMUT):c.1399C>T (p.Arg467Ter)
|
rs774159791
|
0.00003
|
NM_000255.4(MMUT):c.1677-1G>A
|
rs754369323
|
0.00003
|
NM_000255.4(MMUT):c.1867G>A (p.Gly623Arg)
|
rs121918254
|
0.00003
|
NM_000255.4(MMUT):c.1889G>A (p.Gly630Glu)
|
rs143023066
|
0.00003
|
NM_000255.4(MMUT):c.330T>G (p.Tyr110Ter)
|
rs879253826
|
0.00003
|
NM_000255.4(MMUT):c.655A>T (p.Asn219Tyr)
|
rs121918256
|
0.00003
|
NM_000255.4(MMUT):c.682C>T (p.Arg228Ter)
|
rs200596762
|
0.00003
|
NM_000255.4(MMUT):c.91C>T (p.Arg31Ter)
|
rs398123278
|
0.00003
|
NM_000255.4(MMUT):c.1084-10A>G
|
rs777031588
|
0.00002
|
NM_000255.4(MMUT):c.1531C>T (p.Arg511Ter)
|
rs761525156
|
0.00002
|
NM_000255.4(MMUT):c.1741C>T (p.Arg581Ter)
|
rs1238694184
|
0.00002
|
NM_000255.4(MMUT):c.1880A>G (p.His627Arg)
|
rs372486357
|
0.00002
|
NM_000255.4(MMUT):c.52C>T (p.Gln18Ter)
|
rs121918248
|
0.00002
|
NM_000255.4(MMUT):c.983T>C (p.Leu328Pro)
|
rs965316043
|
0.00002
|
NM_000255.4(MMUT):c.1083+2T>A
|
rs746085723
|
0.00001
|
NM_000255.4(MMUT):c.1084-2A>G
|
rs879253839
|
0.00001
|
NM_000255.4(MMUT):c.109C>T (p.Gln37Ter)
|
rs1487859107
|
0.00001
|
NM_000255.4(MMUT):c.1108A>C (p.Thr370Pro)
|
rs368790885
|
0.00001
|
NM_000255.4(MMUT):c.1130C>A (p.Ala377Glu)
|
rs121918250
|
0.00001
|
NM_000255.4(MMUT):c.1243G>T (p.Glu415Ter)
|
rs748129702
|
0.00001
|
NM_000255.4(MMUT):c.1276G>A (p.Gly426Arg)
|
rs769922244
|
0.00001
|
NM_000255.4(MMUT):c.1280G>A (p.Gly427Asp)
|
rs753288303
|
0.00001
|
NM_000255.4(MMUT):c.1287C>G (p.Tyr429Ter)
|
rs1346775255
|
0.00001
|
NM_000255.4(MMUT):c.1420C>T (p.Arg474Ter)
|
rs887126161
|
0.00001
|
NM_000255.4(MMUT):c.1481T>A (p.Leu494Ter)
|
rs764173488
|
0.00001
|
NM_000255.4(MMUT):c.1560+1G>T
|
rs200019422
|
0.00001
|
NM_000255.4(MMUT):c.1846C>T (p.Arg616Cys)
|
rs765284825
|
0.00001
|
NM_000255.4(MMUT):c.1898T>G (p.Val633Gly)
|
rs200055428
|
0.00001
|
NM_000255.4(MMUT):c.1909G>A (p.Gly637Arg)
|
rs781501004
|
0.00001
|
NM_000255.4(MMUT):c.1943G>A (p.Gly648Asp)
|
rs766721811
|
0.00001
|
NM_000255.4(MMUT):c.1957-2A>G
|
rs1554158379
|
0.00001
|
NM_000255.4(MMUT):c.2080C>T (p.Arg694Trp)
|
rs777758903
|
0.00001
|
NM_000255.4(MMUT):c.2099T>A (p.Met700Lys)
|
rs140600746
|
0.00001
|
NM_000255.4(MMUT):c.2179C>T (p.Arg727Ter)
|
rs779990936
|
0.00001
|
NM_000255.4(MMUT):c.2206C>T (p.Leu736Phe)
|
rs753461919
|
0.00001
|
NM_000255.4(MMUT):c.257C>T (p.Pro86Leu)
|
rs769348060
|
0.00001
|
NM_000255.4(MMUT):c.281G>T (p.Gly94Val)
|
rs535411418
|
0.00001
|
NM_000255.4(MMUT):c.313T>C (p.Trp105Arg)
|
rs121918249
|
0.00001
|
NM_000255.4(MMUT):c.322C>T (p.Arg108Cys)
|
rs121918257
|
0.00001
|
NM_000255.4(MMUT):c.323G>A (p.Arg108His)
|
rs483352778
|
0.00001
|
NM_000255.4(MMUT):c.422C>T (p.Ala141Val)
|
rs565348836
|
0.00001
|
NM_000255.4(MMUT):c.454C>T (p.Arg152Ter)
|
rs780068818
|
0.00001
|
NM_000255.4(MMUT):c.521T>C (p.Phe174Ser)
|
rs864309733
|
0.00001
|
NM_000255.4(MMUT):c.545T>G (p.Met182Arg)
|
rs763208217
|
0.00001
|
NM_000255.4(MMUT):c.556A>G (p.Met186Val)
|
rs148331800
|
0.00001
|
NM_000255.4(MMUT):c.581C>T (p.Pro194Leu)
|
rs1254433398
|
0.00001
|
NM_000255.4(MMUT):c.607G>A (p.Gly203Arg)
|
rs778702777
|
0.00001
|
NM_000255.4(MMUT):c.654A>C (p.Gln218His)
|
rs1446389693
|
0.00001
|
NM_000255.4(MMUT):c.753+1G>A
|
rs1028877309
|
0.00001
|
NM_000255.4(MMUT):c.755dup (p.His252fs)
|
rs751624492
|
0.00001
|
NM_000255.4(MMUT):c.890C>T (p.Thr297Ile)
|
rs547709692
|
0.00001
|
NM_000255.4(MMUT):c.914T>C (p.Leu305Ser)
|
rs1554160246
|
0.00001
|
NM_000255.4(MMUT):c.982C>T (p.Leu328Phe)
|
rs796052002
|
0.00001
|
NM_000255.4(MMUT):c.987G>A (p.Trp329Ter)
|
rs750475071
|
0.00001
|
GRCh38/hg38 6p12.3(chr6:49345635-49462709)x0
|
|
|
NC_000006.11:g.(?_49399431)_(49403346_?)del
|
|
|
NC_000006.11:g.(?_49399431)_(49427219_?)del
|
|
|
NC_000006.11:g.(?_49399441)_(49427179_?)del
|
|
|
NC_000006.11:g.(?_49403159)_(49403346_?)del
|
|
|
NC_000006.11:g.(?_49423783)_(49427219_?)del
|
|
|
NC_000006.12:g.(?_49447660)_(49459506_?)del
|
|
|
NC_000006.12:g.(?_49456070)_(49456247_?)del
|
|
|
NM_000255.3(MMUT):c.[1891delG];[322C>T]
|
|
|
NM_000255.4(MMUT):c.-39-1G>A
|
rs879253822
|
|
NM_000255.4(MMUT):c.1006dup (p.Met336fs)
|
|
|
NM_000255.4(MMUT):c.1007del (p.Met336fs)
|
rs1064796328
|
|
NM_000255.4(MMUT):c.1022dup (p.Asn341fs)
|
rs752898811
|
|
NM_000255.4(MMUT):c.1025C>A (p.Ser342Ter)
|
rs770466993
|
|
NM_000255.4(MMUT):c.1032TCT[2] (p.Leu347del)
|
rs765373403
|
|
NM_000255.4(MMUT):c.103C>T (p.Gln35Ter)
|
|
|
NM_000255.4(MMUT):c.1040T>G (p.Leu347Arg)
|
rs1026703654
|
|
NM_000255.4(MMUT):c.1046_1058del (p.Ala349fs)
|
|
|
NM_000255.4(MMUT):c.1065_1068dup (p.Ser357fs)
|
rs886041957
|
|
NM_000255.4(MMUT):c.1070C>G (p.Ser357Ter)
|
rs2127418623
|
|
NM_000255.4(MMUT):c.1073T>C (p.Leu358Pro)
|
|
|
NM_000255.4(MMUT):c.1084-1G>A
|
rs879253838
|
|
NM_000255.4(MMUT):c.1084-1G>C
|
rs879253838
|
|
NM_000255.4(MMUT):c.1092_1114del (p.Asn365fs)
|
rs1476515561
|
|
NM_000255.4(MMUT):c.1126_1127del (p.Ala376fs)
|
rs1554159950
|
|
NM_000255.4(MMUT):c.1141G>A (p.Gly381Arg)
|
|
|
NM_000255.4(MMUT):c.1147_1148del (p.Gln383fs)
|
rs2127417955
|
|
NM_000255.4(MMUT):c.1148dup (p.Ser384fs)
|
rs771021560
|
|
NM_000255.4(MMUT):c.1159A>C (p.Thr387Pro)
|
rs1767556193
|
|
NM_000255.4(MMUT):c.1160C>T (p.Thr387Ile)
|
|
|
NM_000255.4(MMUT):c.1162A>C (p.Asn388His)
|
|
|
NM_000255.4(MMUT):c.1164T>A (p.Asn388Lys)
|
rs879253840
|
|
NM_000255.4(MMUT):c.1181dup (p.Leu394fs)
|
rs879253841
|
|
NM_000255.4(MMUT):c.1196_1197del (p.Val399fs)
|
rs1227030642
|
|
NM_000255.4(MMUT):c.1218del (p.Asn407fs)
|
rs1050465802
|
|
NM_000255.4(MMUT):c.1230_1235del (p.Ile411_Ile412del)
|
rs1767553642
|
|
NM_000255.4(MMUT):c.1240G>T (p.Glu414Ter)
|
rs2127417916
|
|
NM_000255.4(MMUT):c.1271C>T (p.Pro424Leu)
|
rs879253842
|
|
NM_000255.4(MMUT):c.1274G>A (p.Trp425Ter)
|
rs2127417899
|
|
NM_000255.4(MMUT):c.1277G>A (p.Gly426Glu)
|
rs533755473
|
|
NM_000255.4(MMUT):c.1283del (p.Ser428fs)
|
|
|
NM_000255.4(MMUT):c.128G>A (p.Trp43Ter)
|
|
|
NM_000255.4(MMUT):c.1295A>C (p.Glu432Ala)
|
rs1297307718
|
|
NM_000255.4(MMUT):c.129G>A (p.Trp43Ter)
|
rs879253825
|
|
NM_000255.4(MMUT):c.1328dup (p.Leu443fs)
|
rs772609811
|
|
NM_000255.4(MMUT):c.1332+1del
|
rs771542321
|
|
NM_000255.4(MMUT):c.1333-20_1333-9del
|
rs879253843
|
|
NM_000255.4(MMUT):c.1342G>T (p.Glu448Ter)
|
rs2127417197
|
|
NM_000255.4(MMUT):c.1351G>T (p.Glu451Ter)
|
rs768608311
|
|
NM_000255.4(MMUT):c.1441del (p.Ser481fs)
|
rs1767475786
|
|
NM_000255.4(MMUT):c.1444+1del
|
rs1189219556
|
|
NM_000255.4(MMUT):c.1445-1G>C
|
rs1226722287
|
|
NM_000255.4(MMUT):c.1445-2A>G
|
rs398123276
|
|
NM_000255.4(MMUT):c.145_146insCCTGGAGCCCTGTTGGCAGCTCTAGCTTTGCAGTCGTGTAATTGGCCCAAGTCATTGTTTTTCTCGCCTCACTTTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAA (p.Lys49delinsThrTrpSerProValGlySerSerSerPheAlaValValTer)
|
|
|
NM_000255.4(MMUT):c.1463dup (p.Val489fs)
|
rs2127416851
|
|
NM_000255.4(MMUT):c.1465_1484del (p.Val489fs)
|
|
|
NM_000255.4(MMUT):c.1489G>T (p.Glu497Ter)
|
rs879253844
|
|
NM_000255.4(MMUT):c.1513del (p.Ile505fs)
|
rs2127416819
|
|
NM_000255.4(MMUT):c.1514T>C (p.Ile505Thr)
|
|
|
NM_000255.4(MMUT):c.1540C>A (p.Gln514Lys)
|
rs2127416800
|
|
NM_000255.4(MMUT):c.1560+1G>A
|
|
|
NM_000255.4(MMUT):c.1569del (p.Ser524fs)
|
rs2127416017
|
|
NM_000255.4(MMUT):c.1599T>A (p.Cys533Ter)
|
rs886042128
|
|
NM_000255.4(MMUT):c.160A>T (p.Lys54Ter)
|
rs1554161054
|
|
NM_000255.4(MMUT):c.1630_1631delinsTA (p.Gly544Ter)
|
rs796052008
|
|
NM_000255.4(MMUT):c.1645dup (p.Leu549fs)
|
rs1767365298
|
|
NM_000255.4(MMUT):c.1655C>T (p.Ala552Val)
|
rs879253845
|
|
NM_000255.4(MMUT):c.1658del (p.Val553fs)
|
rs2127415956
|
|
NM_000255.4(MMUT):c.1663G>A (p.Ala555Thr)
|
rs753564352
|
|
NM_000255.4(MMUT):c.1677-1G>C
|
rs754369323
|
|
NM_000255.4(MMUT):c.1677-1G>T
|
rs754369323
|
|
NM_000255.4(MMUT):c.1677-2A>G
|
|
|
NM_000255.4(MMUT):c.1677_1747dup (p.Val583Aspfs)
|
|
|
NM_000255.4(MMUT):c.1679del (p.Cys560fs)
|
rs766219320
|
|
NM_000255.4(MMUT):c.1690G>T (p.Glu564Ter)
|
rs1391177886
|
|
NM_000255.4(MMUT):c.1708A>T (p.Lys570Ter)
|
|
|
NM_000255.4(MMUT):c.1718T>C (p.Phe573Ser)
|
rs775593146
|
|
NM_000255.4(MMUT):c.1765C>T (p.Gln589Ter)
|
rs1767285193
|
|
NM_000255.4(MMUT):c.1777G>T (p.Glu593Ter)
|
rs148285323
|
|
NM_000255.4(MMUT):c.1808G>A (p.Arg603Lys)
|
rs1412463565
|
|
NM_000255.4(MMUT):c.1843C>A (p.Pro615Thr)
|
rs1302409621
|
|
NM_000255.4(MMUT):c.1844C>T (p.Pro615Leu)
|
rs1554158777
|
|
NM_000255.4(MMUT):c.1849CTT[1] (p.Leu618del)
|
rs398123277
|
|
NM_000255.4(MMUT):c.1853T>C (p.Leu618Pro)
|
rs879253846
|
|
NM_000255.4(MMUT):c.1867G>C (p.Gly623Arg)
|
rs121918254
|
|
NM_000255.4(MMUT):c.1871A>G (p.Gln624Arg)
|
rs768521956
|
|
NM_000255.4(MMUT):c.1874A>C (p.Asp625Ala)
|
rs879253847
|
|
NM_000255.4(MMUT):c.1874A>G (p.Asp625Gly)
|
rs879253847
|
|
NM_000255.4(MMUT):c.1877_1889del (p.Gly626fs)
|
rs1767239206
|
|
NM_000255.4(MMUT):c.1880dup (p.His627fs)
|
rs2127414718
|
|
NM_000255.4(MMUT):c.1881T>A (p.His627Gln)
|
|
|
NM_000255.4(MMUT):c.1885A>G (p.Arg629Gly)
|
rs796052004
|
|
NM_000255.4(MMUT):c.1885dup (p.Arg629fs)
|
rs1561952122
|
|
NM_000255.4(MMUT):c.1889G>C (p.Gly630Ala)
|
rs143023066
|
|
NM_000255.4(MMUT):c.1891del (p.Ala631fs)
|
rs863224898
|
|
NM_000255.4(MMUT):c.1933_1937del (p.Val645fs)
|
|
|
NM_000255.4(MMUT):c.1946del (p.Pro649fs)
|
rs1554158754
|
|
NM_000255.4(MMUT):c.1956+1G>A
|
|
|
NM_000255.4(MMUT):c.1956+2T>C
|
rs750619189
|
|
NM_000255.4(MMUT):c.1957-892C>A
|
rs1581819081
|
|
NM_000255.4(MMUT):c.1962_1963del (p.Pro654_Arg655insTer)
|
rs1554158377
|
|
NM_000255.4(MMUT):c.1975C>T (p.Gln659Ter)
|
rs879253848
|
|
NM_000255.4(MMUT):c.198del (p.Ile67fs)
|
|
|
NM_000255.4(MMUT):c.19C>T (p.Gln7Ter)
|
rs761773115
|
|
NM_000255.4(MMUT):c.2062G>T (p.Glu688Ter)
|
|
|
NM_000255.4(MMUT):c.2078del (p.Gly693fs)
|
rs879253849
|
|
NM_000255.4(MMUT):c.2098_2099del (p.Met700fs)
|
rs1767096752
|
|
NM_000255.4(MMUT):c.2098del (p.Met700fs)
|
rs2127413347
|
|
NM_000255.4(MMUT):c.2107G>C (p.Gly703Arg)
|
rs121918255
|
|
NM_000255.4(MMUT):c.210_213dup (p.Leu72fs)
|
|
|
NM_000255.4(MMUT):c.2122C>T (p.Gln708Ter)
|
rs1767095714
|
|
NM_000255.4(MMUT):c.2124+1G>A
|
|
|
NM_000255.4(MMUT):c.2125-3C>G
|
rs1581815342
|
|
NM_000255.4(MMUT):c.2131G>T (p.Glu711Ter)
|
rs776176938
|
|
NM_000255.4(MMUT):c.2159_2160del (p.Asn720fs)
|
rs2127412094
|
|
NM_000255.4(MMUT):c.2193_2196dup (p.Val733fs)
|
rs879253850
|
|
NM_000255.4(MMUT):c.2193dup (p.Ala732fs)
|
|
|
NM_000255.4(MMUT):c.2194_2197delinsTGGAA (p.Ala732fs)
|
rs879253851
|
|
NM_000255.4(MMUT):c.2194dup (p.Ala732fs)
|
rs2127412070
|
|
NM_000255.4(MMUT):c.2200C>T (p.Gln734Ter)
|
rs879253852
|
|
NM_000255.4(MMUT):c.243_255del (p.Leu81fs)
|
rs2127420439
|
|
NM_000255.4(MMUT):c.257del (p.Pro86fs)
|
|
|
NM_000255.4(MMUT):c.277C>A (p.Arg93Ser)
|
rs746274670
|
|
NM_000255.4(MMUT):c.299A>G (p.Tyr100Cys)
|
rs864309735
|
|
NM_000255.4(MMUT):c.29del (p.Leu10fs)
|
rs1437477079
|
|
NM_000255.4(MMUT):c.29dup (p.Leu10fs)
|
rs1437477079
|
|
NM_000255.4(MMUT):c.2T>C (p.Met1Thr)
|
rs879253820
|
|
NM_000255.4(MMUT):c.30dup (p.Leu11fs)
|
rs879253821
|
|
NM_000255.4(MMUT):c.312del (p.Trp105fs)
|
rs1064793768
|
|
NM_000255.4(MMUT):c.322del (p.Arg108fs)
|
rs1413324756
|
|
NM_000255.4(MMUT):c.329A>G (p.Tyr110Cys)
|
rs796052005
|
|
NM_000255.4(MMUT):c.349G>T (p.Glu117Ter)
|
rs121918253
|
|
NM_000255.4(MMUT):c.360dup (p.Lys121Ter)
|
rs1554160919
|
|
NM_000255.4(MMUT):c.378C>A (p.Asn126Lys)
|
rs879253827
|
|
NM_000255.4(MMUT):c.385+2T>C
|
rs1192889987
|
|
NM_000255.4(MMUT):c.385+5G>A
|
rs1460509686
|
|
NM_000255.4(MMUT):c.394C>T (p.Gln132Ter)
|
rs1554160743
|
|
NM_000255.4(MMUT):c.396_414delinsAATATATAAAGCCAC (p.Gly133fs)
|
|
|
NM_000255.4(MMUT):c.397G>A (p.Gly133Arg)
|
rs879253828
|
|
NM_000255.4(MMUT):c.397G>T (p.Gly133Ter)
|
rs879253828
|
|
NM_000255.4(MMUT):c.406G>T (p.Val136Phe)
|
rs1767739165
|
|
NM_000255.4(MMUT):c.415G>A (p.Asp139Asn)
|
rs879253829
|
|
NM_000255.4(MMUT):c.421del (p.Ala141fs)
|
rs1767738752
|
|
NM_000255.4(MMUT):c.424A>G (p.Thr142Ala)
|
|
|
NM_000255.4(MMUT):c.426del (p.His143fs)
|
rs2127420062
|
|
NM_000255.4(MMUT):c.430C>T (p.Arg144Cys)
|
|
|
NM_000255.4(MMUT):c.438T>A (p.Tyr146Ter)
|
rs200735240
|
|
NM_000255.4(MMUT):c.443C>T (p.Ser148Leu)
|
rs1300547552
|
|
NM_000255.4(MMUT):c.467A>T (p.Asp156Val)
|
rs757000253
|
|
NM_000255.4(MMUT):c.481G>A (p.Gly161Arg)
|
rs2127420039
|
|
NM_000255.4(MMUT):c.494A>G (p.Asp165Gly)
|
|
|
NM_000255.4(MMUT):c.514del (p.Ile172fs)
|
rs1767735337
|
|
NM_000255.4(MMUT):c.522_523insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCAAAATTCTTTTT (p.Asp175delinsPhePhePhePhePhePheXaaXaaXaaXaaGlnCysGlyAspSerSerGlyIleTer)
|
|
|
NM_000255.4(MMUT):c.526G>T (p.Gly176Ter)
|
|
|
NM_000255.4(MMUT):c.544dup (p.Met182fs)
|
|
|
NM_000255.4(MMUT):c.55dup (p.Val19fs)
|
rs879253823
|
|
NM_000255.4(MMUT):c.560C>G (p.Thr187Ser)
|
rs879253830
|
|
NM_000255.4(MMUT):c.566A>T (p.Asn189Ile)
|
rs200908035
|
|
NM_000255.4(MMUT):c.599T>C (p.Ile200Thr)
|
|
|
NM_000255.4(MMUT):c.610GAA[1] (p.Glu205del)
|
rs879253831
|
|
NM_000255.4(MMUT):c.613G>A (p.Glu205Lys)
|
|
|
NM_000255.4(MMUT):c.622del (p.Val208fs)
|
rs1581834906
|
|
NM_000255.4(MMUT):c.626dup (p.Pro209_Lys210insTer)
|
rs1434645720
|
|
NM_000255.4(MMUT):c.630del (p.Glu211fs)
|
rs879253832
|
|
NM_000255.4(MMUT):c.643G>A (p.Gly215Ser)
|
rs121918258
|
|
NM_000255.4(MMUT):c.643G>T (p.Gly215Cys)
|
rs121918258
|
|
NM_000255.4(MMUT):c.653A>G (p.Gln218Arg)
|
rs869320653
|
|
NM_000255.4(MMUT):c.656del (p.Asn219fs)
|
rs777296241
|
|
NM_000255.4(MMUT):c.670G>T (p.Glu224Ter)
|
rs1554160638
|
|
NM_000255.4(MMUT):c.671_678dup (p.Val227fs)
|
rs758008398
|
|
NM_000255.4(MMUT):c.683G>A (p.Arg228Gln)
|
|
|
NM_000255.4(MMUT):c.689C>G (p.Thr230Arg)
|
rs879253833
|
|
NM_000255.4(MMUT):c.689C>T (p.Thr230Ile)
|
rs879253833
|
|
NM_000255.4(MMUT):c.689_690del (p.Thr230fs)
|
rs2127419920
|
|
NM_000255.4(MMUT):c.692dup (p.Tyr231Ter)
|
rs747777227
|
|
NM_000255.4(MMUT):c.693C>G (p.Tyr231Ter)
|
rs879253834
|
|
NM_000255.4(MMUT):c.726del (p.Ile242fs)
|
|
|
NM_000255.4(MMUT):c.729_730insTT (p.Asp244fs)
|
rs780283588
|
|
NM_000255.4(MMUT):c.751A>T (p.Lys251Ter)
|
rs1319034847
|
|
NM_000255.4(MMUT):c.753+2T>A
|
rs796052006
|
|
NM_000255.4(MMUT):c.754-1G>A
|
|
|
NM_000255.4(MMUT):c.754-1G>C
|
rs76175991
|
|
NM_000255.4(MMUT):c.754-2A>G
|
rs1405705785
|
|
NM_000255.4(MMUT):c.785G>A (p.Ser262Asn)
|
rs1767683356
|
|
NM_000255.4(MMUT):c.802_803del (p.Glu268fs)
|
|
|
NM_000255.4(MMUT):c.810_811delinsA (p.Ala271fs)
|
rs1767682543
|
|
NM_000255.4(MMUT):c.810_811dup (p.Ala271fs)
|
|
|
NM_000255.4(MMUT):c.811del (p.Ala271fs)
|
rs764189353
|
|
NM_000255.4(MMUT):c.828G>C (p.Glu276Asp)
|
rs12175488
|
|
NM_000255.4(MMUT):c.839dup (p.Leu281fs)
|
rs2127419415
|
|
NM_000255.4(MMUT):c.842T>C (p.Leu281Ser)
|
rs796052007
|
|
NM_000255.4(MMUT):c.850G>A (p.Gly284Arg)
|
rs761477436
|
|
NM_000255.4(MMUT):c.851G>A (p.Gly284Glu)
|
rs879253835
|
|
NM_000255.4(MMUT):c.854dup (p.Leu285fs)
|
rs1767680613
|
|
NM_000255.4(MMUT):c.862T>C (p.Ser288Pro)
|
rs1179778233
|
|
NM_000255.4(MMUT):c.88C>T (p.Gln30Ter)
|
rs879253824
|
|
NM_000255.4(MMUT):c.893T>C (p.Ile298Thr)
|
|
|
NM_000255.4(MMUT):c.917C>T (p.Ser306Phe)
|
rs1085307929
|
|
NM_000255.4(MMUT):c.920_923del (p.Phe307fs)
|
rs2127418705
|
|
NM_000255.4(MMUT):c.920dup (p.Phe308fs)
|
|
|
NM_000255.4(MMUT):c.927G>A (p.Trp309Ter)
|
rs879253836
|
|
NM_000255.4(MMUT):c.929del (p.Gly310fs)
|
|
|
NM_000255.4(MMUT):c.934G>T (p.Gly312Ter)
|
rs1767617149
|
|
NM_000255.4(MMUT):c.935G>T (p.Gly312Val)
|
rs864309734
|
|
NM_000255.4(MMUT):c.949del (p.Met317fs)
|
|
|
NM_000255.4(MMUT):c.96_97insGG (p.Leu33fs)
|
|
|
NM_000255.4(MMUT):c.970G>A (p.Ala324Thr)
|
rs780387525
|
|
NM_000255.4(MMUT):c.974G>A (p.Gly325Asp)
|
rs879253837
|
|
NM_000255.4(MMUT):c.976A>G (p.Arg326Gly)
|
rs1085308002
|
|
NM_000255.4(MMUT):c.976A>T (p.Arg326Ter)
|
rs1085308002
|
|
NM_000255.4(MMUT):c.977G>A (p.Arg326Lys)
|
rs758577372
|
|