NM_024996.7(GFM1):c.2011C>T (p.Arg671Cys)
|
rs201408725
|
0.00006
|
NM_006567.5(FARS2):c.989G>A (p.Arg330His)
|
rs863223957
|
0.00005
|
NM_006567.5(FARS2):c.1256G>A (p.Arg419His)
|
rs202183509
|
0.00001
|
NM_024996.7(GFM1):c.100C>T (p.Arg34Ter)
|
rs766234016
|
0.00001
|
NM_024996.7(GFM1):c.1922C>A (p.Ala641Glu)
|
rs1390685552
|
0.00001
|
NM_024996.7(GFM1):c.958C>G (p.Pro320Ala)
|
rs781397040
|
0.00001
|
NM_004975.4(KCNB1):c.1041C>G (p.Ser347Arg)
|
|
|
NM_004975.4(KCNB1):c.1045G>T (p.Val349Phe)
|
rs1569017205
|
|
NM_004975.4(KCNB1):c.1105T>C (p.Trp369Arg)
|
rs1569017174
|
|
NM_004975.4(KCNB1):c.1115C>T (p.Thr372Ile)
|
rs1569017160
|
|
NM_004975.4(KCNB1):c.1130C>A (p.Thr377Asn)
|
rs1569017148
|
|
NM_004975.4(KCNB1):c.1132G>C (p.Val378Leu)
|
rs1569017143
|
|
NM_004975.4(KCNB1):c.1139A>G (p.Tyr380Cys)
|
rs1569017123
|
|
NM_004975.4(KCNB1):c.1153C>A (p.Pro385Thr)
|
rs1060499592
|
|
NM_004975.4(KCNB1):c.1201G>A (p.Gly401Arg)
|
rs1569017045
|
|
NM_004975.4(KCNB1):c.1248C>A (p.Phe416Leu)
|
rs1569017015
|
|
NM_004975.4(KCNB1):c.1747C>T (p.Arg583Ter)
|
rs781663444
|
|
NM_004975.4(KCNB1):c.629C>G (p.Thr210Arg)
|
rs1555889162
|
|
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met)
|
rs1555889162
|
|
NM_004975.4(KCNB1):c.857del (p.Val286fs)
|
rs1569017337
|
|
NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys)
|
rs1555889130
|
|
NM_004975.4(KCNB1):c.934C>T (p.Arg312Cys)
|
|
|
NM_004975.4(KCNB1):c.935G>A (p.Arg312His)
|
rs1555889127
|
|
NM_004975.4(KCNB1):c.984C>G (p.Tyr328Ter)
|
rs1179351306
|
|
NM_006567.5(FARS2):c.1113G>T (p.Leu371Phe)
|
rs1204079767
|
|
NM_006567.5(FARS2):c.1269_1276dup (p.Ser426Ter)
|
rs1561847309
|
|
NM_006567.5(FARS2):c.251A>C (p.His84Pro)
|
rs1758844499
|
|
NM_024996.7(GFM1):c.1149_1160del (p.Ile384_Thr387del)
|
rs1576745248
|
|
NM_024996.7(GFM1):c.1297_1300del (p.Asp433fs)
|
rs866604517
|
|
NM_024996.7(GFM1):c.1404del (p.Gly469fs)
|
rs779877297
|
|
NM_024996.7(GFM1):c.1546T>C (p.Cys516Arg)
|
rs1576757241
|
|
NM_024996.7(GFM1):c.1571C>T (p.Ala524Val)
|
rs143031224
|
|
NM_024996.7(GFM1):c.248A>T (p.Asp83Val)
|
rs1576721522
|
|