NM_000352.6(ABCC8):c.560T>A (p.Val187Asp)
|
rs137852672
|
0.00022
|
NM_000352.6(ABCC8):c.2041-21G>A
|
rs746714109
|
0.00004
|
NM_000352.6(ABCC8):c.4198G>A (p.Gly1400Arg)
|
rs137852676
|
0.00004
|
NM_000352.6(ABCC8):c.1484G>A (p.Arg495Gln)
|
rs1420601296
|
0.00003
|
NM_000352.6(ABCC8):c.2921-9G>A
|
rs757171524
|
0.00003
|
NM_000352.6(ABCC8):c.4178G>A (p.Arg1393His)
|
rs769279368
|
0.00003
|
NM_000525.4(KCNJ11):c.844G>A (p.Glu282Lys)
|
rs267607196
|
0.00003
|
NM_000352.6(ABCC8):c.1501G>A (p.Glu501Lys)
|
rs372307320
|
0.00002
|
NM_000352.6(ABCC8):c.2666A>C (p.Lys889Thr)
|
rs761862121
|
0.00002
|
NM_000352.6(ABCC8):c.4297G>A (p.Gly1433Ser)
|
rs781090024
|
0.00002
|
NM_000352.6(ABCC8):c.1508T>C (p.Leu503Pro)
|
rs1554933168
|
0.00001
|
NM_000352.6(ABCC8):c.1671+1G>C
|
rs1057516509
|
0.00001
|
NM_000352.6(ABCC8):c.3651-1G>C
|
rs768820409
|
0.00001
|
NM_000352.6(ABCC8):c.4478G>A (p.Arg1493Gln)
|
rs746480424
|
0.00001
|
NM_000352.6(ABCC8):c.4608G>A (p.Ala1536=)
|
rs1439464815
|
0.00001
|
NM_000352.6(ABCC8):c.686C>T (p.Thr229Ile)
|
rs768017509
|
0.00001
|
NM_000352.6(ABCC8):c.928G>A (p.Asp310Asn)
|
rs769569410
|
0.00001
|
NM_000525.4(KCNJ11):c.100C>T (p.Arg34Cys)
|
rs954727530
|
0.00001
|
NM_000525.4(KCNJ11):c.160C>T (p.Arg54Cys)
|
rs375848765
|
0.00001
|
NM_000525.4(KCNJ11):c.407G>A (p.Arg136His)
|
rs1479483693
|
0.00001
|
NM_000525.4(KCNJ11):c.761C>T (p.Pro254Leu)
|
rs104894237
|
0.00001
|
NM_000525.4(KCNJ11):c.776A>G (p.His259Arg)
|
rs104894248
|
0.00001
|
NM_000525.4(KCNJ11):c.881C>T (p.Thr294Met)
|
rs780957825
|
0.00001
|
NM_000162.5(GCK):c.1155del (p.Leu386fs)
|
rs1400535021
|
|
NM_000162.5(GCK):c.391T>C (p.Ser131Pro)
|
rs104894010
|
|
NM_000352.6(ABCC8):c.131dup (p.Ile46fs)
|
|
|
NM_000352.6(ABCC8):c.148+2T>C
|
rs1554949176
|
|
NM_000352.6(ABCC8):c.149-2A>T
|
|
|
NM_000352.6(ABCC8):c.1672-20A>G
|
rs931436550
|
|
NM_000352.6(ABCC8):c.1813del (p.Leu604_Val605insTer)
|
|
|
NM_000352.6(ABCC8):c.1817+1G>A
|
|
|
NM_000352.6(ABCC8):c.1914C>A (p.Tyr638Ter)
|
|
|
NM_000352.6(ABCC8):c.2040+1G>A
|
|
|
NM_000352.6(ABCC8):c.208G>C (p.Gly70Arg)
|
rs764349043
|
|
NM_000352.6(ABCC8):c.2140C>T (p.Gln714Ter)
|
|
|
NM_000352.6(ABCC8):c.215A>G (p.Asn72Ser)
|
rs80356634
|
|
NM_000352.6(ABCC8):c.2169_2171del (p.Leu724del)
|
rs760520781
|
|
NM_000352.6(ABCC8):c.2236G>T (p.Glu746Ter)
|
rs753296261
|
|
NM_000352.6(ABCC8):c.2252_2253dup (p.Ser752fs)
|
rs2133487890
|
|
NM_000352.6(ABCC8):c.2255+2T>C
|
rs1057516589
|
|
NM_000352.6(ABCC8):c.2256-1G>A
|
|
|
NM_000352.6(ABCC8):c.2305_2327del (p.Val769fs)
|
|
|
NM_000352.6(ABCC8):c.2388del (p.Gln796fs)
|
|
|
NM_000352.6(ABCC8):c.2497C>T (p.Gln833Ter)
|
|
|
NM_000352.6(ABCC8):c.2522G>A (p.Arg841Gln)
|
rs547150342
|
|
NM_000352.6(ABCC8):c.2556_2556+15delinsCCTGGGGTCCTTGT
|
|
|
NM_000352.6(ABCC8):c.2557-2A>G
|
|
|
NM_000352.6(ABCC8):c.2654T>A (p.Leu885Ter)
|
|
|
NM_000352.6(ABCC8):c.2676C>G (p.Tyr892Ter)
|
|
|
NM_000352.6(ABCC8):c.2760_2770del (p.Glu920fs)
|
|
|
NM_000352.6(ABCC8):c.2791_2792del (p.Met931fs)
|
|
|
NM_000352.6(ABCC8):c.290+2del
|
|
|
NM_000352.6(ABCC8):c.3007dup (p.Tyr1003fs)
|
|
|
NM_000352.6(ABCC8):c.3162+2T>A
|
|
|
NM_000352.6(ABCC8):c.3231del (p.Cys1078fs)
|
|
|
NM_000352.6(ABCC8):c.3302del (p.Leu1101fs)
|
|
|
NM_000352.6(ABCC8):c.3329+1G>A
|
|
|
NM_000352.6(ABCC8):c.3330-1G>C
|
|
|
NM_000352.6(ABCC8):c.3336del (p.Phe1112fs)
|
|
|
NM_000352.6(ABCC8):c.338C>T (p.Ala113Val)
|
rs2133711315
|
|
NM_000352.6(ABCC8):c.3399+1G>A
|
rs1554911369
|
|
NM_000352.6(ABCC8):c.3440T>G (p.Leu1147Arg)
|
|
|
NM_000352.6(ABCC8):c.3452C>A (p.Ser1151Ter)
|
|
|
NM_000352.6(ABCC8):c.369_370dup (p.Tyr124fs)
|
rs1554946437
|
|
NM_000352.6(ABCC8):c.3736T>C (p.Trp1246Arg)
|
rs1554906790
|
|
NM_000352.6(ABCC8):c.3754-1G>A
|
rs1554906449
|
|
NM_000352.6(ABCC8):c.3763G>A (p.Gly1255Ser)
|
rs1185034563
|
|
NM_000352.6(ABCC8):c.3804del (p.Asn1269fs)
|
|
|
NM_000352.6(ABCC8):c.3827_3828del (p.Ser1276fs)
|
|
|
NM_000352.6(ABCC8):c.3941_3966del (p.Ile1314fs)
|
|
|
NM_000352.6(ABCC8):c.3989_3990insG (p.Pro1331fs)
|
|
|
NM_000352.6(ABCC8):c.4055G>A (p.Arg1352His)
|
rs28936370
|
|
NM_000352.6(ABCC8):c.4076C>T (p.Pro1359Leu)
|
|
|
NM_000352.6(ABCC8):c.4119+1G>C
|
|
|
NM_000352.6(ABCC8):c.4132G>C (p.Gly1378Arg)
|
rs925231098
|
|
NM_000352.6(ABCC8):c.4177C>T (p.Arg1393Cys)
|
|
|
NM_000352.6(ABCC8):c.4181T>G (p.Met1394Arg)
|
|
|
NM_000352.6(ABCC8):c.4258C>T (p.Arg1420Cys)
|
rs28938469
|
|
NM_000352.6(ABCC8):c.4259G>A (p.Arg1420His)
|
|
|
NM_000352.6(ABCC8):c.4353G>A (p.Trp1451Ter)
|
rs1057516404
|
|
NM_000352.6(ABCC8):c.4412-2A>C
|
|
|
NM_000352.6(ABCC8):c.4477del (p.Arg1493fs)
|
rs1953791177
|
|
NM_000352.6(ABCC8):c.4545+2T>C
|
|
|
NM_000352.6(ABCC8):c.4549_4550del (p.Asn1517fs)
|
|
|
NM_000352.6(ABCC8):c.45C>G (p.Tyr15Ter)
|
rs758231286
|
|
NM_000352.6(ABCC8):c.494C>A (p.Ser165Ter)
|
rs758754046
|
|
NM_000352.6(ABCC8):c.50T>C (p.Val17Ala)
|
rs764950519
|
|
NM_000352.6(ABCC8):c.563A>G (p.Asn188Ser)
|
rs797045213
|
|
NM_000352.6(ABCC8):c.56del (p.Gln19fs)
|
rs2133738006
|
|
NM_000352.6(ABCC8):c.579+2T>A
|
rs1449198328
|
|
NM_000352.6(ABCC8):c.580-2A>T
|
|
|
NM_000352.6(ABCC8):c.580A>T (p.Arg194Ter)
|
|
|
NM_000352.6(ABCC8):c.585C>A (p.Tyr195Ter)
|
|
|
NM_000352.6(ABCC8):c.696G>A (p.Trp232Ter)
|
rs2133679771
|
|
NM_000352.6(ABCC8):c.817del (p.Gln273fs)
|
rs2133678848
|
|
NM_000352.6(ABCC8):c.822+2T>C
|
|
|
NM_000352.6(ABCC8):c.856dup (p.Ala286fs)
|
|
|
NM_000352.6(ABCC8):c.857_859delinsGCAT (p.Ala286fs)
|
|
|
NM_000352.6(ABCC8):c.864G>A (p.Trp288Ter)
|
|
|
NM_000352.6(ABCC8):c.984del (p.Lys329fs)
|
|
|
NM_000525.4(KCNJ11):c.165C>A (p.Phe55Leu)
|
|
|
NM_000525.4(KCNJ11):c.270G>A (p.Trp90Ter)
|
|
|
NM_000525.4(KCNJ11):c.286G>A (p.Ala96Thr)
|
|
|
NM_000525.4(KCNJ11):c.368del (p.Phe123fs)
|
|
|
NM_000525.4(KCNJ11):c.399del (p.Phe133fs)
|
|
|
NM_000525.4(KCNJ11):c.491_494dup (p.Cys166fs)
|
|
|
NM_000525.4(KCNJ11):c.637G>A (p.Ala213Thr)
|
|
|
NM_000525.4(KCNJ11):c.639del (p.Thr214fs)
|
|
|
NM_000525.4(KCNJ11):c.703C>T (p.Gln235Ter)
|
|
|
NM_000525.4(KCNJ11):c.718dup (p.Met240fs)
|
rs1554901718
|
|
NM_000525.4(KCNJ11):c.808del (p.Leu270fs)
|
|
|
NM_000525.4(KCNJ11):c.816_829del (p.Ser273fs)
|
|
|
NM_000525.4(KCNJ11):c.844G>T (p.Glu282Ter)
|
|
|
NM_000525.4(KCNJ11):c.866G>C (p.Gly289Ala)
|
rs797045637
|
|
NM_000525.4(KCNJ11):c.868G>A (p.Val290Met)
|
rs750414160
|
|
NM_000525.4(KCNJ11):c.991_992del (p.Ser331fs)
|
|
|
NM_000525.4(KCNJ11):c.993dup (p.Lys332fs)
|
|
|