NM_016492.5(RANGRF):c.437+16C>T
|
rs869773
|
0.08087
|
NM_016492.5(RANGRF):c.510G>A (p.Gln170=)
|
rs35420920
|
0.00234
|
NM_016492.5(RANGRF):c.52C>T (p.Leu18Phe)
|
rs150856064
|
0.00070
|
NM_016492.5(RANGRF):c.172G>A (p.Val58Ile)
|
rs147679793
|
0.00051
|
NM_016492.5(RANGRF):c.194+13C>T
|
rs373083572
|
0.00031
|
NM_016492.5(RANGRF):c.77+19C>G
|
rs370316330
|
0.00027
|
NM_016492.5(RANGRF):c.77+5G>A
|
rs369372561
|
0.00027
|
NM_016492.5(RANGRF):c.437+20C>T
|
rs200354447
|
0.00016
|
NM_016492.5(RANGRF):c.194+14C>T
|
rs375629912
|
0.00015
|
NM_016492.5(RANGRF):c.364G>A (p.Val122Met)
|
rs151189313
|
0.00014
|
NM_016492.5(RANGRF):c.438-12C>T
|
rs369281314
|
0.00014
|
NM_016492.5(RANGRF):c.27G>C (p.Leu9=)
|
rs200305092
|
0.00006
|
NM_016492.5(RANGRF):c.434C>T (p.Pro145Leu)
|
rs201882524
|
0.00006
|
NM_016492.5(RANGRF):c.428A>G (p.Asn143Ser)
|
rs200615633
|
0.00005
|
NM_016492.5(RANGRF):c.438-16G>C
|
rs373218610
|
0.00004
|
NM_016492.5(RANGRF):c.465C>T (p.Pro155=)
|
rs762346321
|
0.00004
|
NM_016492.5(RANGRF):c.535G>A (p.Asp179Asn)
|
rs374174477
|
0.00004
|
NM_016492.5(RANGRF):c.543C>T (p.Asn181=)
|
rs749320514
|
0.00004
|
NM_016492.5(RANGRF):c.186G>T (p.Ala62=)
|
rs1053514842
|
0.00003
|
NM_016492.5(RANGRF):c.249G>C (p.Glu83Asp)
|
rs751751942
|
0.00003
|
NM_016492.5(RANGRF):c.429T>C (p.Asn143=)
|
rs140312984
|
0.00003
|
NM_016492.5(RANGRF):c.437C>T (p.Pro146Leu)
|
rs765772294
|
0.00003
|
NM_016492.5(RANGRF):c.493C>T (p.Leu165=)
|
rs755816071
|
0.00003
|
NM_016492.5(RANGRF):c.50T>A (p.Ile17Asn)
|
rs764464019
|
0.00003
|
NM_016492.5(RANGRF):c.513G>A (p.Leu171=)
|
rs201385595
|
0.00003
|
NM_016492.5(RANGRF):c.77+8G>A
|
rs771333875
|
0.00003
|
NM_016492.5(RANGRF):c.195-4C>T
|
rs771675539
|
0.00002
|
NM_016492.5(RANGRF):c.194+8A>G
|
rs774053920
|
0.00001
|
NM_016492.5(RANGRF):c.194+9A>C
|
rs1328785594
|
0.00001
|
NM_016492.5(RANGRF):c.195-15G>A
|
rs973056411
|
0.00001
|
NM_016492.5(RANGRF):c.250T>G (p.Ser84Ala)
|
rs755244411
|
0.00001
|
NM_016492.5(RANGRF):c.256C>T (p.Gln86Ter)
|
rs199622161
|
0.00001
|
NM_016492.5(RANGRF):c.2T>A (p.Met1Lys)
|
rs1230132538
|
0.00001
|
NM_016492.5(RANGRF):c.358A>T (p.Lys120Ter)
|
rs1470351437
|
0.00001
|
NM_016492.5(RANGRF):c.389G>A (p.Arg130Lys)
|
rs546562640
|
0.00001
|
NM_016492.5(RANGRF):c.398A>G (p.Gln133Arg)
|
rs770731506
|
0.00001
|
NM_016492.5(RANGRF):c.75A>T (p.Val25=)
|
rs140016697
|
0.00001
|
NC_000017.10:g.(?_8192107)_(8192410_?)dup
|
|
|
NC_000017.10:g.(?_8192107)_(8193254_?)dup
|
|
|
NM_016492.5(RANGRF):c.11C>G (p.Thr4Arg)
|
rs1236530787
|
|
NM_016492.5(RANGRF):c.12G>A (p.Thr4=)
|
|
|
NM_016492.5(RANGRF):c.167C>A (p.Ala56Asp)
|
|
|
NM_016492.5(RANGRF):c.167C>T (p.Ala56Val)
|
|
|
NM_016492.5(RANGRF):c.16_17del (p.Asp6fs)
|
rs752068609
|
|
NM_016492.5(RANGRF):c.171C>T (p.His57=)
|
rs2151608672
|
|
NM_016492.5(RANGRF):c.173T>A (p.Val58Glu)
|
|
|
NM_016492.5(RANGRF):c.176G>C (p.Arg59Pro)
|
rs750625803
|
|
NM_016492.5(RANGRF):c.176G>T (p.Arg59Leu)
|
|
|
NM_016492.5(RANGRF):c.177G>A (p.Arg59=)
|
|
|
NM_016492.5(RANGRF):c.179G>A (p.Gly60Asp)
|
|
|
NM_016492.5(RANGRF):c.181G>T (p.Glu61Ter)
|
rs140704891
|
|
NM_016492.5(RANGRF):c.185C>G (p.Ala62Gly)
|
rs1270315228
|
|
NM_016492.5(RANGRF):c.189T>G (p.Ala63=)
|
|
|
NM_016492.5(RANGRF):c.190G>A (p.Ala64Thr)
|
|
|
NM_016492.5(RANGRF):c.194+10T>C
|
|
|
NM_016492.5(RANGRF):c.194+15C>T
|
|
|
NM_016492.5(RANGRF):c.194+18G>A
|
|
|
NM_016492.5(RANGRF):c.194+6G>T
|
|
|
NM_016492.5(RANGRF):c.194G>T (p.Arg65Leu)
|
rs1478013092
|
|
NM_016492.5(RANGRF):c.202T>A (p.Phe68Ile)
|
|
|
NM_016492.5(RANGRF):c.207G>A (p.Glu69=)
|
|
|
NM_016492.5(RANGRF):c.20G>T (p.Cys7Phe)
|
|
|
NM_016492.5(RANGRF):c.219C>T (p.Gly73=)
|
|
|
NM_016492.5(RANGRF):c.21C>T (p.Cys7=)
|
|
|
NM_016492.5(RANGRF):c.238G>A (p.Val80Ile)
|
|
|
NM_016492.5(RANGRF):c.242A>G (p.His81Arg)
|
|
|
NM_016492.5(RANGRF):c.247G>A (p.Glu83Lys)
|
|
|
NM_016492.5(RANGRF):c.351+4_351+19del
|
|
|
NM_016492.5(RANGRF):c.351+6G>A
|
|
|
NM_016492.5(RANGRF):c.351+7G>A
|
rs2151609934
|
|
NM_016492.5(RANGRF):c.356C>A (p.Ala119Glu)
|
|
|
NM_016492.5(RANGRF):c.35G>A (p.Gly12Asp)
|
rs1990240045
|
|
NM_016492.5(RANGRF):c.371_373del (p.Leu124del)
|
rs989144688
|
|
NM_016492.5(RANGRF):c.387G>A (p.Leu129=)
|
rs2151610308
|
|
NM_016492.5(RANGRF):c.390G>A (p.Arg130=)
|
|
|
NM_016492.5(RANGRF):c.396C>T (p.Pro132=)
|
|
|
NM_016492.5(RANGRF):c.418C>G (p.Leu140Val)
|
|
|
NM_016492.5(RANGRF):c.433C>A (p.Pro145Thr)
|
|
|
NM_016492.5(RANGRF):c.437+17G>A
|
rs1409646277
|
|
NM_016492.5(RANGRF):c.437+3A>G
|
rs1597441839
|
|
NM_016492.5(RANGRF):c.437+9G>T
|
|
|
NM_016492.5(RANGRF):c.437delC (p.Pro147fs)
|
rs2151610404
|
|
NM_016492.5(RANGRF):c.438-13C>A
|
|
|
NM_016492.5(RANGRF):c.438-8A>G
|
rs878885282
|
|
NM_016492.5(RANGRF):c.442G>C (p.Asp148His)
|
rs1990342112
|
|
NM_016492.5(RANGRF):c.447C>T (p.Asn149=)
|
rs2151611212
|
|
NM_016492.5(RANGRF):c.476C>T (p.Ser159Leu)
|
|
|
NM_016492.5(RANGRF):c.484C>T (p.Pro162Ser)
|
|
|
NM_016492.5(RANGRF):c.494T>C (p.Leu165Pro)
|
|
|
NM_016492.5(RANGRF):c.523C>G (p.Leu175Val)
|
|
|
NM_016492.5(RANGRF):c.52C>A (p.Leu18Ile)
|
rs150856064
|
|
NM_016492.5(RANGRF):c.534C>G (p.His178Gln)
|
|
|
NM_016492.5(RANGRF):c.534C>T (p.His178=)
|
rs746275946
|
|
NM_016492.5(RANGRF):c.535G>T (p.Asp179Tyr)
|
rs374174477
|
|
NM_016492.5(RANGRF):c.551G>T (p.Gly184Val)
|
rs547041882
|
|
NM_016492.5(RANGRF):c.552T>C (p.Gly184=)
|
|
|
NM_016492.5(RANGRF):c.57C>T (p.Pro19=)
|
|
|
NM_016492.5(RANGRF):c.58A>T (p.Met20Leu)
|
rs1597439817
|
|
NM_016492.5(RANGRF):c.59T>C (p.Met20Thr)
|
rs900647124
|
|
NM_016492.5(RANGRF):c.5A>G (p.Glu2Gly)
|
|
|
NM_016492.5(RANGRF):c.64dup (p.Ala22fs)
|
rs767541224
|
|
NM_016492.5(RANGRF):c.67A>G (p.Ile23Val)
|
|
|
NM_016492.5(RANGRF):c.77+14G>A
|
|
|
NM_016492.5(RANGRF):c.77+18C>T
|
|
|