NM_033109.5(PNPT1):c.688G>C (p.Glu230Gln)
|
rs34928857
|
0.00131
|
NM_033109.5(PNPT1):c.1525G>A (p.Val509Ile)
|
rs146571352
|
0.00109
|
NM_033109.5(PNPT1):c.1676C>G (p.Ala559Gly)
|
rs149843729
|
0.00038
|
NM_033109.5(PNPT1):c.1099C>T (p.Leu367Phe)
|
rs142840568
|
0.00029
|
NM_033109.5(PNPT1):c.1795T>A (p.Ser599Thr)
|
rs147375807
|
0.00026
|
NM_033109.5(PNPT1):c.2148+6A>T
|
rs374690825
|
0.00018
|
NM_033109.5(PNPT1):c.1907G>A (p.Gly636Asp)
|
rs143197548
|
0.00014
|
NM_033109.5(PNPT1):c.1619A>G (p.Asn540Ser)
|
rs202190573
|
0.00010
|
NM_033109.5(PNPT1):c.40C>T (p.Arg14Trp)
|
rs199712282
|
0.00010
|
NM_033109.5(PNPT1):c.1189G>A (p.Val397Ile)
|
rs200016391
|
0.00009
|
NM_033109.5(PNPT1):c.1592C>G (p.Thr531Arg)
|
rs374698153
|
0.00008
|
NM_033109.5(PNPT1):c.1771A>C (p.Lys591Gln)
|
rs542676905
|
0.00008
|
NM_033109.5(PNPT1):c.397A>G (p.Ile133Val)
|
rs756714219
|
0.00007
|
NM_033109.5(PNPT1):c.1834G>T (p.Val612Phe)
|
rs752148258
|
0.00006
|
NM_033109.5(PNPT1):c.493C>T (p.Pro165Ser)
|
rs151166046
|
0.00006
|
NM_033109.5(PNPT1):c.667A>G (p.Lys223Glu)
|
rs752759589
|
0.00006
|
NM_033109.5(PNPT1):c.1471G>A (p.Gly491Arg)
|
rs772291464
|
0.00005
|
NM_033109.5(PNPT1):c.1583G>A (p.Arg528His)
|
rs367713105
|
0.00004
|
NM_033109.5(PNPT1):c.1982G>A (p.Arg661Lys)
|
rs201269381
|
0.00004
|
NM_033109.5(PNPT1):c.472G>T (p.Ala158Ser)
|
rs766919363
|
0.00004
|
NM_033109.5(PNPT1):c.1382T>C (p.Val461Ala)
|
rs752666494
|
0.00003
|
NM_033109.5(PNPT1):c.1566T>A (p.Gly522=)
|
rs754237697
|
0.00003
|
NM_033109.5(PNPT1):c.2224G>A (p.Asp742Asn)
|
rs187750584
|
0.00003
|
NM_033109.5(PNPT1):c.649G>A (p.Val217Met)
|
rs758922668
|
0.00003
|
NM_033109.5(PNPT1):c.673C>G (p.Gln225Glu)
|
rs891974446
|
0.00003
|
NM_033109.5(PNPT1):c.2147A>G (p.Lys716Arg)
|
rs1318691269
|
0.00002
|
NM_033109.5(PNPT1):c.251C>T (p.Ala84Val)
|
rs145552327
|
0.00002
|
NM_033109.5(PNPT1):c.466C>G (p.Leu156Val)
|
rs779832293
|
0.00002
|
NM_033109.5(PNPT1):c.1022A>G (p.Asn341Ser)
|
rs759908051
|
0.00001
|
NM_033109.5(PNPT1):c.1357C>T (p.Leu453Phe)
|
rs141173235
|
0.00001
|
NM_033109.5(PNPT1):c.1361C>G (p.Ala454Gly)
|
rs200088200
|
0.00001
|
NM_033109.5(PNPT1):c.1758A>C (p.Leu586Phe)
|
rs767387569
|
0.00001
|
NM_033109.5(PNPT1):c.2213G>A (p.Arg738His)
|
rs574670461
|
0.00001
|
NM_033109.5(PNPT1):c.2261C>T (p.Ser754Leu)
|
rs756689143
|
0.00001
|
NM_033109.5(PNPT1):c.418C>T (p.Pro140Ser)
|
rs771597979
|
0.00001
|
GRCh37/hg19 2p16.1(chr2:55910769-55921261)x3
|
|
|
GRCh37/hg19 2p16.1(chr2:55910804-55921261)x3
|
|
|
NM_033109.5(PNPT1):c.1066T>C (p.Tyr356His)
|
rs2104109848
|
|
NM_033109.5(PNPT1):c.1141C>T (p.His381Tyr)
|
rs267599414
|
|
NM_033109.5(PNPT1):c.1175A>C (p.Gln392Pro)
|
|
|
NM_033109.5(PNPT1):c.1563G>A (p.Lys521=)
|
rs863224169
|
|
NM_033109.5(PNPT1):c.1717G>C (p.Glu573Gln)
|
|
|
NM_033109.5(PNPT1):c.1846A>G (p.Lys616Glu)
|
|
|
NM_033109.5(PNPT1):c.1913C>T (p.Thr638Ile)
|
rs375324746
|
|
NM_033109.5(PNPT1):c.1960C>T (p.Pro654Ser)
|
rs765801538
|
|
NM_033109.5(PNPT1):c.2039C>T (p.Ala680Val)
|
rs1402295663
|
|
NM_033109.5(PNPT1):c.2105T>C (p.Met702Thr)
|
|
|
NM_033109.5(PNPT1):c.2259G>T (p.Gln753His)
|
|
|
NM_033109.5(PNPT1):c.2298_2300del (p.Arg766del)
|
|
|
NM_033109.5(PNPT1):c.299T>G (p.Val100Gly)
|
|
|
NM_033109.5(PNPT1):c.385C>G (p.Leu129Val)
|
|
|
NM_033109.5(PNPT1):c.395G>A (p.Arg132Gln)
|
rs1320187955
|
|
NM_033109.5(PNPT1):c.521C>T (p.Ser174Phe)
|
rs1553501171
|
|
NM_033109.5(PNPT1):c.695C>T (p.Ser232Phe)
|
|
|
NM_033109.5(PNPT1):c.716A>C (p.Gln239Pro)
|
rs766647494
|
|
NM_033109.5(PNPT1):c.872C>T (p.Ala291Val)
|
rs1696933161
|
|
NM_033109.5(PNPT1):c.892G>C (p.Val298Leu)
|
|
|