NM_006363.6(SEC23B):c.1233+9A>G
|
rs6081189
|
0.91788
|
NM_006363.6(SEC23B):c.834+40T>C
|
rs911115
|
0.91369
|
NM_006363.6(SEC23B):c.1665+48C>T
|
rs2295557
|
0.66701
|
NM_006363.6(SEC23B):c.1744-20T>A
|
rs3736775
|
0.33572
|
NM_006363.6(SEC23B):c.834+41G>A
|
rs1555353
|
0.30830
|
NM_006363.6(SEC23B):c.1467C>G (p.His489Gln)
|
rs2273526
|
0.12707
|
NM_006363.6(SEC23B):c.1298C>T (p.Pro433Leu)
|
rs17807673
|
0.10334
|
NM_006363.6(SEC23B):c.1405-7C>T
|
rs2273525
|
0.09089
|
NM_006363.6(SEC23B):c.1276G>A (p.Val426Ile)
|
rs41309927
|
0.04225
|
NM_006363.6(SEC23B):c.2061G>T (p.Leu687=)
|
rs7262532
|
0.03235
|
NM_006363.6(SEC23B):c.770C>T (p.Thr257Ile)
|
rs146917730
|
0.01006
|
NM_006363.6(SEC23B):c.834+116A>G
|
rs113825530
|
0.00772
|
NM_006363.6(SEC23B):c.1743+168A>G
|
rs111951711
|
0.00771
|
NM_006363.6(SEC23B):c.1503C>T (p.Ile501=)
|
rs147036760
|
0.00699
|
NM_006363.6(SEC23B):c.1484G>A (p.Arg495His)
|
rs141588462
|
0.00677
|
NM_006363.6(SEC23B):c.816T>C (p.Ile272=)
|
rs115177758
|
0.00677
|
NM_006363.6(SEC23B):c.1649G>A (p.Arg550Gln)
|
rs111572459
|
0.00474
|
NM_006363.6(SEC23B):c.1404+20_1404+21del
|
rs369173250
|
0.00378
|
NM_006363.6(SEC23B):c.221+76A>G
|
rs183784857
|
0.00333
|
NM_006363.6(SEC23B):c.1666-148G>C
|
rs116352690
|
0.00329
|
NM_006363.6(SEC23B):c.835-7A>G
|
rs184484121
|
0.00317
|
NM_006363.6(SEC23B):c.993+19G>A
|
rs144225458
|
0.00281
|
NM_006363.6(SEC23B):c.1512T>C (p.Asn504=)
|
rs138198461
|
0.00271
|
NM_006363.6(SEC23B):c.2298C>T (p.Ala766=)
|
rs77945587
|
0.00228
|
NM_006363.6(SEC23B):c.1595G>C (p.Gly532Ala)
|
rs143456757
|
0.00207
|
NM_006363.6(SEC23B):c.1317G>T (p.Glu439Asp)
|
rs147410912
|
0.00176
|
NM_006363.6(SEC23B):c.993+10C>G
|
rs201948587
|
0.00173
|
NM_006363.6(SEC23B):c.66C>T (p.Asn22=)
|
rs144542988
|
0.00098
|
NM_006363.6(SEC23B):c.1198T>C (p.Phe400Leu)
|
rs142461689
|
0.00084
|
NM_006363.6(SEC23B):c.74C>A (p.Pro25His)
|
rs6045440
|
0.00050
|
NM_006363.6(SEC23B):c.1665+6T>C
|
rs371786580
|
0.00046
|
NM_006363.6(SEC23B):c.1233+4C>T
|
rs201883785
|
0.00040
|
NM_006363.6(SEC23B):c.358G>A (p.Val120Met)
|
rs372784283
|
0.00031
|
NM_006363.6(SEC23B):c.1335G>A (p.Thr445=)
|
rs146587686
|
0.00028
|
NM_006363.6(SEC23B):c.280-6T>C
|
rs370880370
|
0.00028
|
NM_006363.6(SEC23B):c.222-78C>T
|
rs150393520
|
0.00026
|
NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys)
|
rs121918221
|
0.00024
|
NM_006363.6(SEC23B):c.2268C>T (p.Asp756=)
|
rs530834583
|
0.00023
|
NM_006363.6(SEC23B):c.279+18A>T
|
rs769730409
|
0.00021
|
NM_006363.6(SEC23B):c.1809A>G (p.Ser603=)
|
rs139882548
|
0.00017
|
NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp)
|
rs121918222
|
0.00017
|
NM_006363.6(SEC23B):c.1527G>A (p.Gln509=)
|
rs201943863
|
0.00016
|
NM_006363.6(SEC23B):c.1993-16G>A
|
rs375390042
|
0.00013
|
NM_006363.6(SEC23B):c.2031G>A (p.Met677Ile)
|
rs202187007
|
0.00012
|
NM_006363.6(SEC23B):c.835-11C>T
|
rs370797703
|
0.00011
|
NM_006363.6(SEC23B):c.1636C>T (p.Arg546Trp)
|
rs147135162
|
0.00007
|
NM_006363.6(SEC23B):c.1884C>T (p.Tyr628=)
|
rs766473215
|
0.00007
|
NM_006363.6(SEC23B):c.2101C>T (p.Arg701Cys)
|
rs201270568
|
0.00005
|
NM_006363.6(SEC23B):c.82C>T (p.Arg28Trp)
|
rs759146033
|
0.00005
|
NM_006363.6(SEC23B):c.1489C>T (p.Arg497Cys)
|
rs727504145
|
0.00004
|
NM_006363.6(SEC23B):c.1491C>T (p.Arg497=)
|
rs778443189
|
0.00004
|
NM_006363.6(SEC23B):c.53G>A (p.Arg18His)
|
rs905074313
|
0.00004
|
NM_006363.6(SEC23B):c.916G>A (p.Asp306Asn)
|
rs763130110
|
0.00004
|
NM_006363.6(SEC23B):c.970C>T (p.Arg324Ter)
|
rs121918225
|
0.00004
|
NM_006363.6(SEC23B):c.2126A>G (p.Asn709Ser)
|
rs778348206
|
0.00003
|
NM_006363.6(SEC23B):c.790C>T (p.Arg264Ter)
|
rs121918224
|
0.00003
|
NM_006363.6(SEC23B):c.1512-10G>T
|
rs770601333
|
0.00002
|
NM_006363.6(SEC23B):c.1603C>T (p.Arg535Ter)
|
rs201921350
|
0.00002
|
NM_006363.6(SEC23B):c.1648C>T (p.Arg550Ter)
|
rs199939108
|
0.00002
|
NM_006363.6(SEC23B):c.2008C>T (p.Arg670Cys)
|
rs752037101
|
0.00002
|
NM_006363.6(SEC23B):c.2009G>A (p.Arg670His)
|
rs757662443
|
0.00002
|
NM_006363.6(SEC23B):c.2129C>T (p.Thr710Met)
|
rs752664090
|
0.00002
|
NM_006363.6(SEC23B):c.286C>G (p.Pro96Ala)
|
rs756668484
|
0.00002
|
NM_006363.6(SEC23B):c.328T>C (p.Leu110=)
|
rs368413002
|
0.00002
|
NM_006363.6(SEC23B):c.1062T>C (p.Leu354=)
|
rs758029042
|
0.00001
|
NM_006363.6(SEC23B):c.1234-11A>G
|
rs187699090
|
0.00001
|
NM_006363.6(SEC23B):c.123C>T (p.Leu41=)
|
rs554409729
|
0.00001
|
NM_006363.6(SEC23B):c.1299G>A (p.Pro433=)
|
rs767683935
|
0.00001
|
NM_006363.6(SEC23B):c.1380C>A (p.Gly460=)
|
rs201656419
|
0.00001
|
NM_006363.6(SEC23B):c.1385A>G (p.Tyr462Cys)
|
rs780978419
|
0.00001
|
NM_006363.6(SEC23B):c.1400A>G (p.Asn467Ser)
|
rs150210442
|
0.00001
|
NM_006363.6(SEC23B):c.1413C>T (p.Thr471=)
|
rs900752773
|
0.00001
|
NM_006363.6(SEC23B):c.1475C>T (p.Thr492Ile)
|
rs757801115
|
0.00001
|
NM_006363.6(SEC23B):c.1483C>T (p.Arg495Cys)
|
rs768018657
|
0.00001
|
NM_006363.6(SEC23B):c.1486A>G (p.Ile496Val)
|
rs755836066
|
0.00001
|
NM_006363.6(SEC23B):c.1507C>T (p.Arg503Ter)
|
rs1568617456
|
0.00001
|
NM_006363.6(SEC23B):c.1569T>C (p.Ala523=)
|
rs921580564
|
0.00001
|
NM_006363.6(SEC23B):c.1571C>T (p.Ala524Val)
|
rs398124225
|
0.00001
|
NM_006363.6(SEC23B):c.1588C>T (p.Arg530Trp)
|
rs121918223
|
0.00001
|
NM_006363.6(SEC23B):c.1781T>G (p.Val594Gly)
|
rs752366963
|
0.00001
|
NM_006363.6(SEC23B):c.1815C>T (p.Tyr605=)
|
rs779351917
|
0.00001
|
NM_006363.6(SEC23B):c.1992+12T>C
|
rs780986610
|
0.00001
|
NM_006363.6(SEC23B):c.2150del (p.Ala717fs)
|
rs1334741748
|
0.00001
|
NM_006363.6(SEC23B):c.221+3A>G
|
rs777858803
|
0.00001
|
NM_006363.6(SEC23B):c.301A>G (p.Ile101Val)
|
rs754320262
|
0.00001
|
NM_006363.6(SEC23B):c.711G>A (p.Lys237=)
|
rs773579451
|
0.00001
|
NM_006363.6(SEC23B):c.773A>G (p.Gln258Arg)
|
rs534770840
|
0.00001
|
NM_006363.6(SEC23B):c.890C>T (p.Thr297Ile)
|
rs1363436677
|
0.00001
|
NC_000020.10:g.(?_18516277)_(18516406_?)del
|
|
|
NC_000020.11:g.(?_18512225)_(18515736_?)del
|
|
|
NC_000020.11:g.18507416A>G
|
|
|
NC_000020.11:g.18512225_18512228del
|
|
|
NM_006363.6(SEC23B):c.1015C>T (p.Arg339Ter)
|
|
|
NM_006363.6(SEC23B):c.1020A>G (p.Thr340=)
|
|
|
NM_006363.6(SEC23B):c.1027A>G (p.Asn343Asp)
|
|
|
NM_006363.6(SEC23B):c.1029T>C (p.Asn343=)
|
|
|
NM_006363.6(SEC23B):c.1043A>G (p.Asp348Gly)
|
rs2060144762
|
|
NM_006363.6(SEC23B):c.1044T>C (p.Asp348=)
|
|
|
NM_006363.6(SEC23B):c.1053T>C (p.Ala351=)
|
|
|
NM_006363.6(SEC23B):c.1054T>C (p.Cys352Arg)
|
|
|
NM_006363.6(SEC23B):c.105T>C (p.Val35=)
|
|
|
NM_006363.6(SEC23B):c.1068A>G (p.Gln356=)
|
|
|
NM_006363.6(SEC23B):c.1071T>C (p.Thr357=)
|
|
|
NM_006363.6(SEC23B):c.1078T>C (p.Leu360=)
|
|
|
NM_006363.6(SEC23B):c.1079del (p.Leu360fs)
|
rs1600244935
|
|
NM_006363.6(SEC23B):c.1107T>A (p.Thr369=)
|
|
|
NM_006363.6(SEC23B):c.1109+10C>G
|
|
|
NM_006363.6(SEC23B):c.1109+11A>C
|
|
|
NM_006363.6(SEC23B):c.1109+19C>A
|
|
|
NM_006363.6(SEC23B):c.1109+1G>C
|
|
|
NM_006363.6(SEC23B):c.1109+7T>C
|
|
|
NM_006363.6(SEC23B):c.1110-13dup
|
|
|
NM_006363.6(SEC23B):c.1110-20A>T
|
|
|
NM_006363.6(SEC23B):c.1115A>G (p.Tyr372Cys)
|
|
|
NM_006363.6(SEC23B):c.1115A>T (p.Tyr372Phe)
|
|
|
NM_006363.6(SEC23B):c.1129_1130del (p.Asp377fs)
|
|
|
NM_006363.6(SEC23B):c.1144T>A (p.Ser382Thr)
|
|
|
NM_006363.6(SEC23B):c.1179T>C (p.Thr393=)
|
|
|
NM_006363.6(SEC23B):c.117T>C (p.Ala39=)
|
|
|
NM_006363.6(SEC23B):c.1191T>C (p.Asn397=)
|
|
|
NM_006363.6(SEC23B):c.1201C>T (p.Arg401Ter)
|
rs1403456625
|
|
NM_006363.6(SEC23B):c.1217C>T (p.Ala406Val)
|
|
|
NM_006363.6(SEC23B):c.1222T>C (p.Leu408=)
|
|
|
NM_006363.6(SEC23B):c.1227C>T (p.Asp409=)
|
|
|
NM_006363.6(SEC23B):c.1233+10A>C
|
|
|
NM_006363.6(SEC23B):c.1233+12T>A
|
|
|
NM_006363.6(SEC23B):c.1233+15T>A
|
|
|
NM_006363.6(SEC23B):c.1233+8_1233+9insG
|
|
|
NM_006363.6(SEC23B):c.1233_1233+1dup
|
|
|
NM_006363.6(SEC23B):c.1234-13A>C
|
|
|
NM_006363.6(SEC23B):c.1234-13A>G
|
|
|
NM_006363.6(SEC23B):c.1234-13A>T
|
|
|
NM_006363.6(SEC23B):c.1234-14_1234-13del
|
rs765849514
|
|
NM_006363.6(SEC23B):c.1234-16C>A
|
|
|
NM_006363.6(SEC23B):c.1234-18G>A
|
|
|
NM_006363.6(SEC23B):c.1234-20C>T
|
|
|
NM_006363.6(SEC23B):c.1242G>A (p.Arg414=)
|
|
|
NM_006363.6(SEC23B):c.1243del (p.Glu415fs)
|
|
|
NM_006363.6(SEC23B):c.1244A>G (p.Glu415Gly)
|
|
|
NM_006363.6(SEC23B):c.1275C>T (p.Cys425=)
|
|
|
NM_006363.6(SEC23B):c.1314+12A>T
|
|
|
NM_006363.6(SEC23B):c.1314+16C>T
|
|
|
NM_006363.6(SEC23B):c.1314+18A>G
|
|
|
NM_006363.6(SEC23B):c.1314+1G>A
|
|
|
NM_006363.6(SEC23B):c.1314_1314+10del
|
|
|
NM_006363.6(SEC23B):c.1315-16C>T
|
|
|
NM_006363.6(SEC23B):c.1315-4C>G
|
|
|
NM_006363.6(SEC23B):c.1315-5C>T
|
|
|
NM_006363.6(SEC23B):c.1315-6C>T
|
|
|
NM_006363.6(SEC23B):c.1315-7C>T
|
|
|
NM_006363.6(SEC23B):c.1315-8A>G
|
|
|
NM_006363.6(SEC23B):c.1326T>C (p.Val442=)
|
|
|
NM_006363.6(SEC23B):c.1332C>T (p.Gly444=)
|
|
|
NM_006363.6(SEC23B):c.1335G>T (p.Thr445=)
|
|
|
NM_006363.6(SEC23B):c.1341G>A (p.Gln447=)
|
|
|
NM_006363.6(SEC23B):c.1347A>G (p.Lys449=)
|
|
|
NM_006363.6(SEC23B):c.1374A>C (p.Thr458=)
|
|
|
NM_006363.6(SEC23B):c.1401T>C (p.Asn467=)
|
|
|
NM_006363.6(SEC23B):c.1402C>T (p.Gln468Ter)
|
|
|
NM_006363.6(SEC23B):c.1404+17C>T
|
|
|
NM_006363.6(SEC23B):c.1404+20A>G
|
|
|
NM_006363.6(SEC23B):c.1404+5G>A
|
rs1555789463
|
|
NM_006363.6(SEC23B):c.1405-15C>T
|
|
|
NM_006363.6(SEC23B):c.1415C>T (p.Pro472Leu)
|
rs752548887
|
|
NM_006363.6(SEC23B):c.1416G>A (p.Pro472=)
|
|
|
NM_006363.6(SEC23B):c.1416G>C (p.Pro472=)
|
rs748683808
|
|
NM_006363.6(SEC23B):c.1422C>T (p.Pro474=)
|
|
|
NM_006363.6(SEC23B):c.1425A>G (p.Gln475=)
|
|
|
NM_006363.6(SEC23B):c.1443C>T (p.Ile481=)
|
|
|
NM_006363.6(SEC23B):c.1455G>A (p.Thr485=)
|
|
|
NM_006363.6(SEC23B):c.1455G>C (p.Thr485=)
|
|
|
NM_006363.6(SEC23B):c.146C>T (p.Pro49Leu)
|
|
|
NM_006363.6(SEC23B):c.1479G>A (p.Gln493=)
|
|
|
NM_006363.6(SEC23B):c.1485C>T (p.Arg495=)
|
|
|
NM_006363.6(SEC23B):c.1490G>T (p.Arg497Leu)
|
|
|
NM_006363.6(SEC23B):c.1504G>A (p.Ala502Thr)
|
|
|
NM_006363.6(SEC23B):c.1506C>G (p.Ala502=)
|
|
|
NM_006363.6(SEC23B):c.1511+18C>T
|
|
|
NM_006363.6(SEC23B):c.1511+21_1511+24del
|
|
|
NM_006363.6(SEC23B):c.1511+2_1511+5del
|
|
|
NM_006363.6(SEC23B):c.1512-11G>A
|
|
|
NM_006363.6(SEC23B):c.1512-19C>A
|
|
|
NM_006363.6(SEC23B):c.1512-5G>A
|
|
|
NM_006363.6(SEC23B):c.1512-7T>C
|
|
|
NM_006363.6(SEC23B):c.1521T>C (p.Asp507=)
|
|
|
NM_006363.6(SEC23B):c.1536C>A (p.Leu512=)
|
|
|
NM_006363.6(SEC23B):c.1539G>A (p.Arg513=)
|
|
|
NM_006363.6(SEC23B):c.153A>T (p.Leu51=)
|
|
|
NM_006363.6(SEC23B):c.1555T>C (p.Phe519Leu)
|
|
|
NM_006363.6(SEC23B):c.1563G>A (p.Gln521=)
|
|
|
NM_006363.6(SEC23B):c.1578G>A (p.Val526=)
|
|
|
NM_006363.6(SEC23B):c.1580T>C (p.Leu527Ser)
|
|
|
NM_006363.6(SEC23B):c.1589G>A (p.Arg530Gln)
|
|
|
NM_006363.6(SEC23B):c.1596G>C (p.Gly532=)
|
|
|
NM_006363.6(SEC23B):c.1602C>G (p.Phe534Leu)
|
|
|
NM_006363.6(SEC23B):c.1608G>A (p.Ala536=)
|
|
|
NM_006363.6(SEC23B):c.1611G>A (p.Glu537=)
|
|
|
NM_006363.6(SEC23B):c.1626C>G (p.Pro542=)
|
|
|
NM_006363.6(SEC23B):c.1626C>T (p.Pro542=)
|
|
|
NM_006363.6(SEC23B):c.162A>G (p.Val54=)
|
|
|
NM_006363.6(SEC23B):c.1632G>C (p.Val544=)
|
|
|
NM_006363.6(SEC23B):c.1637G>T (p.Arg546Leu)
|
|
|
NM_006363.6(SEC23B):c.1638G>A (p.Arg546=)
|
rs138623580
|
|
NM_006363.6(SEC23B):c.1638G>C (p.Arg546=)
|
|
|
NM_006363.6(SEC23B):c.164A>C (p.Gln55Pro)
|
|
|
NM_006363.6(SEC23B):c.1653A>G (p.Gln551=)
|
|
|
NM_006363.6(SEC23B):c.1656C>T (p.Leu552=)
|
|
|
NM_006363.6(SEC23B):c.165A>G (p.Gln55=)
|
|
|
NM_006363.6(SEC23B):c.1660C>A (p.Arg554=)
|
|
|
NM_006363.6(SEC23B):c.1660C>T (p.Arg554Ter)
|
|
|
NM_006363.6(SEC23B):c.1660del (p.Arg554fs)
|
|
|
NM_006363.6(SEC23B):c.1665+14A>G
|
|
|
NM_006363.6(SEC23B):c.1665+17G>A
|
|
|
NM_006363.6(SEC23B):c.1665+20A>T
|
|
|
NM_006363.6(SEC23B):c.1665+4A>G
|
|
|
NM_006363.6(SEC23B):c.1666-16T>G
|
|
|
NM_006363.6(SEC23B):c.1666-3T>C
|
|
|
NM_006363.6(SEC23B):c.1677T>C (p.Phe559=)
|
|
|
NM_006363.6(SEC23B):c.1680A>G (p.Gly560=)
|
|
|
NM_006363.6(SEC23B):c.1686T>C (p.Tyr562=)
|
|
|
NM_006363.6(SEC23B):c.1710dup (p.Arg571Ter)
|
|
|
NM_006363.6(SEC23B):c.1713G>A (p.Arg571=)
|
|
|
NM_006363.6(SEC23B):c.1719A>G (p.Ser573=)
|
|
|
NM_006363.6(SEC23B):c.1734A>G (p.Leu578=)
|
|
|
NM_006363.6(SEC23B):c.1741C>T (p.Gln581Ter)
|
|
|
NM_006363.6(SEC23B):c.1743+20A>G
|
|
|
NM_006363.6(SEC23B):c.1744-10G>C
|
|
|
NM_006363.6(SEC23B):c.1744-14del
|
|
|
NM_006363.6(SEC23B):c.1744-16T>C
|
|
|
NM_006363.6(SEC23B):c.1744-17G>A
|
|
|
NM_006363.6(SEC23B):c.1744-18C>T
|
|
|
NM_006363.6(SEC23B):c.1753C>T (p.His585Tyr)
|
|
|
NM_006363.6(SEC23B):c.1764A>G (p.Arg588=)
|
|
|
NM_006363.6(SEC23B):c.1803G>A (p.Glu601=)
|
|
|
NM_006363.6(SEC23B):c.1806G>A (p.Ser602=)
|
|
|
NM_006363.6(SEC23B):c.1816A>C (p.Arg606=)
|
|
|
NM_006363.6(SEC23B):c.1818A>G (p.Arg606=)
|
|
|
NM_006363.6(SEC23B):c.1831del (p.Arg611fs)
|
|
|
NM_006363.6(SEC23B):c.183C>T (p.Cys61=)
|
|
|
NM_006363.6(SEC23B):c.1840C>T (p.Leu614=)
|
|
|
NM_006363.6(SEC23B):c.1857C>G (p.Ile619Met)
|
|
|
NM_006363.6(SEC23B):c.1866G>A (p.Gln622=)
|
|
|
NM_006363.6(SEC23B):c.1875C>G (p.Leu625=)
|
|
|
NM_006363.6(SEC23B):c.1881T>A (p.Ser627=)
|
|
|
NM_006363.6(SEC23B):c.1905+10dup
|
|
|
NM_006363.6(SEC23B):c.1905+12C>T
|
|
|
NM_006363.6(SEC23B):c.1905+16A>G
|
|
|
NM_006363.6(SEC23B):c.1905+1G>A
|
|
|
NM_006363.6(SEC23B):c.1905+8T>C
|
|
|
NM_006363.6(SEC23B):c.1905+8T>G
|
|
|
NM_006363.6(SEC23B):c.1905+9C>A
|
|
|
NM_006363.6(SEC23B):c.1906-11T>C
|
|
|
NM_006363.6(SEC23B):c.1906-12_1906-9del
|
|
|
NM_006363.6(SEC23B):c.1906-18C>G
|
|
|
NM_006363.6(SEC23B):c.1906-18C>T
|
|
|
NM_006363.6(SEC23B):c.1906-18_1906-14del
|
|
|
NM_006363.6(SEC23B):c.1906-19TC[2]
|
|
|
NM_006363.6(SEC23B):c.1906-19TC[3]
|
|
|
NM_006363.6(SEC23B):c.1906-7T>C
|
|
|
NM_006363.6(SEC23B):c.1906-8_1906-7del
|
|
|
NM_006363.6(SEC23B):c.1909del (p.Val637fs)
|
|
|
NM_006363.6(SEC23B):c.1932T>C (p.Ile644=)
|
|
|
NM_006363.6(SEC23B):c.195T>C (p.Thr65=)
|
|
|
NM_006363.6(SEC23B):c.1962T>G (p.Thr654=)
|
|
|
NM_006363.6(SEC23B):c.1989dup (p.Glu664Ter)
|
|
|
NM_006363.6(SEC23B):c.1992+14ATTA[2]
|
|
|
NM_006363.6(SEC23B):c.1992+15_1992+17del
|
|
|
NM_006363.6(SEC23B):c.1992+17A>G
|
|
|
NM_006363.6(SEC23B):c.1992+8G>A
|
|
|
NM_006363.6(SEC23B):c.1992+8_1992+10del
|
|
|
NM_006363.6(SEC23B):c.1993-18T>C
|
|
|
NM_006363.6(SEC23B):c.1993-20G>A
|
|
|
NM_006363.6(SEC23B):c.1993-6G>C
|
|
|
NM_006363.6(SEC23B):c.1993-7T>C
|
|
|
NM_006363.6(SEC23B):c.2001C>T (p.Ala667=)
|
|
|
NM_006363.6(SEC23B):c.2011A>G (p.Lys671Glu)
|
|
|
NM_006363.6(SEC23B):c.2034C>T (p.Pro678=)
|
|
|
NM_006363.6(SEC23B):c.2035G>A (p.Glu679Lys)
|
|
|
NM_006363.6(SEC23B):c.2040T>C (p.Tyr680=)
|
|
|
NM_006363.6(SEC23B):c.2055C>T (p.His685=)
|
|
|
NM_006363.6(SEC23B):c.2073G>A (p.Leu691=)
|
|
|
NM_006363.6(SEC23B):c.208C>T (p.Leu70Phe)
|
|
|
NM_006363.6(SEC23B):c.2094G>T (p.Leu698=)
|
|
|
NM_006363.6(SEC23B):c.2109G>A (p.Pro703=)
|
|
|
NM_006363.6(SEC23B):c.211A>C (p.Asn71His)
|
rs2059977897
|
|
NM_006363.6(SEC23B):c.2122A>G (p.Ile708Val)
|
|
|
NM_006363.6(SEC23B):c.2130G>A (p.Thr710=)
|
|
|
NM_006363.6(SEC23B):c.2139A>T (p.Gly713=)
|
|
|
NM_006363.6(SEC23B):c.2148+10C>T
|
|
|
NM_006363.6(SEC23B):c.2148+17C>G
|
|
|
NM_006363.6(SEC23B):c.2148+7G>A
|
|
|
NM_006363.6(SEC23B):c.2149-12T>C
|
|
|
NM_006363.6(SEC23B):c.2149-13G>C
|
|
|
NM_006363.6(SEC23B):c.2149-19G>T
|
|
|
NM_006363.6(SEC23B):c.2149-21TTG[4]
|
rs746737770
|
|
NM_006363.6(SEC23B):c.2151T>G (p.Ala717=)
|
|
|
NM_006363.6(SEC23B):c.2152C>T (p.Arg718Ter)
|
|
|
NM_006363.6(SEC23B):c.2166C>G (p.Ser722=)
|
|
|
NM_006363.6(SEC23B):c.216A>G (p.Pro72=)
|
|
|
NM_006363.6(SEC23B):c.2178A>C (p.Pro726=)
|
|
|
NM_006363.6(SEC23B):c.2178A>G (p.Pro726=)
|
|
|
NM_006363.6(SEC23B):c.2181T>C (p.Ser727=)
|
|
|
NM_006363.6(SEC23B):c.2190_2191dup (p.Asn731fs)
|
|
|
NM_006363.6(SEC23B):c.2199G>C (p.Leu733=)
|
rs1600281875
|
|
NM_006363.6(SEC23B):c.2202T>A (p.Tyr734Ter)
|
|
|
NM_006363.6(SEC23B):c.2202T>C (p.Tyr734=)
|
|
|
NM_006363.6(SEC23B):c.2205T>C (p.Ala735=)
|
|
|
NM_006363.6(SEC23B):c.221+10C>G
|
|
|
NM_006363.6(SEC23B):c.221+163A>G
|
|
|
NM_006363.6(SEC23B):c.221+1G>A
|
|
|
NM_006363.6(SEC23B):c.221+31A>T
|
|
|
NM_006363.6(SEC23B):c.2212C>T (p.Gln738Ter)
|
|
|
NM_006363.6(SEC23B):c.2214+10C>A
|
|
|
NM_006363.6(SEC23B):c.2214+13_2214+14del
|
|
|
NM_006363.6(SEC23B):c.2214+14del
|
|
|
NM_006363.6(SEC23B):c.2214+15G>A
|
|
|
NM_006363.6(SEC23B):c.2214+15G>T
|
|
|
NM_006363.6(SEC23B):c.2215-18T>C
|
|
|
NM_006363.6(SEC23B):c.2215-19C>T
|
|
|
NM_006363.6(SEC23B):c.2215-9A>G
|
|
|
NM_006363.6(SEC23B):c.221G>A (p.Cys74Tyr)
|
|
|
NM_006363.6(SEC23B):c.222-15T>A
|
|
|
NM_006363.6(SEC23B):c.222-17_222-15del
|
|
|
NM_006363.6(SEC23B):c.222-19_222-17del
|
|
|
NM_006363.6(SEC23B):c.222-4A>G
|
|
|
NM_006363.6(SEC23B):c.222-7C>G
|
|
|
NM_006363.6(SEC23B):c.2220T>C (p.Thr740=)
|
|
|
NM_006363.6(SEC23B):c.2233C>T (p.Leu745=)
|
|
|
NM_006363.6(SEC23B):c.2241T>C (p.Asp747=)
|
|
|
NM_006363.6(SEC23B):c.2242G>A (p.Asp748Asn)
|
rs2122200225
|
|
NM_006363.6(SEC23B):c.2242G>C (p.Asp748His)
|
|
|
NM_006363.6(SEC23B):c.2247T>C (p.Val749=)
|
|
|
NM_006363.6(SEC23B):c.2250C>T (p.Ser750=)
|
|
|
NM_006363.6(SEC23B):c.225G>A (p.Gln75=)
|
|
|
NM_006363.6(SEC23B):c.2262del (p.Phe754fs)
|
|
|
NM_006363.6(SEC23B):c.2286T>C (p.Ala762=)
|
|
|
NM_006363.6(SEC23B):c.2289C>T (p.Val763=)
|
|
|
NM_006363.6(SEC23B):c.2294G>C (p.Ser765Thr)
|
|
|
NM_006363.6(SEC23B):c.235C>T (p.Arg79Ter)
|
|
|
NM_006363.6(SEC23B):c.246T>C (p.Leu82=)
|
|
|
NM_006363.6(SEC23B):c.249G>A (p.Trp83Ter)
|
|
|
NM_006363.6(SEC23B):c.24C>A (p.Ile8=)
|
|
|
NM_006363.6(SEC23B):c.24C>T (p.Ile8=)
|
|
|
NM_006363.6(SEC23B):c.251C>T (p.Ala84Val)
|
|
|
NM_006363.6(SEC23B):c.279+13T>A
|
|
|
NM_006363.6(SEC23B):c.279+17T>A
|
|
|
NM_006363.6(SEC23B):c.279+1G>A
|
|
|
NM_006363.6(SEC23B):c.280-10T>C
|
|
|
NM_006363.6(SEC23B):c.280-11C>T
|
|
|
NM_006363.6(SEC23B):c.280-12C>G
|
|
|
NM_006363.6(SEC23B):c.280-12C>T
|
|
|
NM_006363.6(SEC23B):c.280-13T>G
|
|
|
NM_006363.6(SEC23B):c.280-20_280-14del
|
|
|
NM_006363.6(SEC23B):c.280-8_280-6del
|
|
|
NM_006363.6(SEC23B):c.294T>C (p.Tyr98=)
|
|
|
NM_006363.6(SEC23B):c.300C>T (p.Gly100=)
|
|
|
NM_006363.6(SEC23B):c.318A>G (p.Gln106=)
|
|
|
NM_006363.6(SEC23B):c.324C>T (p.Ala108=)
|
|
|
NM_006363.6(SEC23B):c.337del (p.Gln113fs)
|
|
|
NM_006363.6(SEC23B):c.338A>C (p.Gln113Pro)
|
|
|
NM_006363.6(SEC23B):c.357C>T (p.Tyr119=)
|
|
|
NM_006363.6(SEC23B):c.366+11T>C
|
|
|
NM_006363.6(SEC23B):c.366+13T>A
|
|
|
NM_006363.6(SEC23B):c.366+15G>C
|
|
|
NM_006363.6(SEC23B):c.366+17G>A
|
|
|
NM_006363.6(SEC23B):c.366+18C>T
|
|
|
NM_006363.6(SEC23B):c.366+1G>A
|
|
|
NM_006363.6(SEC23B):c.5C>T (p.Ala2Val)
|
|
|
NM_006363.6(SEC23B):c.690-17C>T
|
|
|
NM_006363.6(SEC23B):c.690-4_690-3dup
|
|
|
NM_006363.6(SEC23B):c.690-7C>G
|
|
|
NM_006363.6(SEC23B):c.6G>A (p.Ala2=)
|
|
|
NM_006363.6(SEC23B):c.708C>A (p.His236Gln)
|
rs748683327
|
|
NM_006363.6(SEC23B):c.708C>T (p.His236=)
|
|
|
NM_006363.6(SEC23B):c.712A>G (p.Ile238Val)
|
|
|
NM_006363.6(SEC23B):c.716A>G (p.Asp239Gly)
|
rs761034212
|
|
NM_006363.6(SEC23B):c.732T>C (p.Asp244=)
|
|
|
NM_006363.6(SEC23B):c.738T>C (p.Leu246=)
|
|
|
NM_006363.6(SEC23B):c.744G>A (p.Glu248=)
|
|
|
NM_006363.6(SEC23B):c.757C>T (p.Pro253Ser)
|
|
|
NM_006363.6(SEC23B):c.759A>G (p.Pro253=)
|
|
|
NM_006363.6(SEC23B):c.762G>A (p.Trp254Ter)
|
|
|
NM_006363.6(SEC23B):c.765A>G (p.Pro255=)
|
|
|
NM_006363.6(SEC23B):c.783A>G (p.Arg261=)
|
|
|
NM_006363.6(SEC23B):c.78C>T (p.Ser26=)
|
|
|
NM_006363.6(SEC23B):c.816del (p.Ile272fs)
|
rs1568606490
|
|
NM_006363.6(SEC23B):c.819T>C (p.Ala273=)
|
|
|
NM_006363.6(SEC23B):c.820G>A (p.Val274Ile)
|
rs747388303
|
|
NM_006363.6(SEC23B):c.834+14T>C
|
rs2148899499
|
|
NM_006363.6(SEC23B):c.834+17C>G
|
|
|
NM_006363.6(SEC23B):c.834+17C>T
|
|
|
NM_006363.6(SEC23B):c.835-10G>A
|
|
|
NM_006363.6(SEC23B):c.835-2A>G
|
|
|
NM_006363.6(SEC23B):c.84G>A (p.Arg28=)
|
|
|
NM_006363.6(SEC23B):c.853G>A (p.Gly285Arg)
|
|
|
NM_006363.6(SEC23B):c.85C>T (p.Leu29=)
|
rs886056525
|
|
NM_006363.6(SEC23B):c.873T>C (p.Phe291=)
|
|
|
NM_006363.6(SEC23B):c.873del (p.Phe291fs)
|
|
|
NM_006363.6(SEC23B):c.879A>G (p.Gly293=)
|
|
|
NM_006363.6(SEC23B):c.87G>A (p.Leu29=)
|
|
|
NM_006363.6(SEC23B):c.888T>C (p.Pro296=)
|
|
|
NM_006363.6(SEC23B):c.891C>T (p.Thr297=)
|
|
|
NM_006363.6(SEC23B):c.897G>A (p.Gly299=)
|
|
|
NM_006363.6(SEC23B):c.897G>C (p.Gly299=)
|
|
|
NM_006363.6(SEC23B):c.912T>A (p.Val304=)
|
|
|
NM_006363.6(SEC23B):c.937C>T (p.Arg313Cys)
|
|
|
NM_006363.6(SEC23B):c.938G>A (p.Arg313His)
|
|
|
NM_006363.6(SEC23B):c.93T>G (p.Ala31=)
|
|
|
NM_006363.6(SEC23B):c.953T>C (p.Ile318Thr)
|
|
|
NM_006363.6(SEC23B):c.954T>C (p.Ile318=)
|
|
|
NM_006363.6(SEC23B):c.960A>G (p.Lys320=)
|
|
|
NM_006363.6(SEC23B):c.96A>G (p.Thr32=)
|
|
|
NM_006363.6(SEC23B):c.983dup (p.Ala329fs)
|
|
|
NM_006363.6(SEC23B):c.985G>C (p.Ala329Pro)
|
|
|
NM_006363.6(SEC23B):c.985G>T (p.Ala329Ser)
|
rs143417821
|
|
NM_006363.6(SEC23B):c.990C>T (p.Thr330=)
|
|
|
NM_006363.6(SEC23B):c.993+11T>C
|
|
|
NM_006363.6(SEC23B):c.993+14G>A
|
|
|
NM_006363.6(SEC23B):c.993+15G>C
|
|
|
NM_006363.6(SEC23B):c.993+8C>G
|
|
|
NM_006363.6(SEC23B):c.993+8C>T
|
|
|
NM_006363.6(SEC23B):c.994-10C>G
|
|
|
NM_006363.6(SEC23B):c.994-13C>G
|
|
|
NM_006363.6(SEC23B):c.994-189T>A
|
|
|
NM_006363.6(SEC23B):c.994-189T>C
|
|
|
NM_006363.6(SEC23B):c.994-19A>G
|
|
|
NM_006363.6(SEC23B):c.994-20T>A
|
|
|
NM_006363.6(SEC23B):c.9A>G (p.Thr3=)
|
|
|