NM_006214.4(PHYH):c.823C>T (p.Arg275Trp)
|
rs104894178
|
0.00007
|
NM_000288.4(PEX7):c.340-10A>G
|
rs267608255
|
0.00006
|
NM_006214.4(PHYH):c.497-2A>G
|
rs144169488
|
0.00004
|
NM_006214.4(PHYH):c.530A>G (p.Asp177Gly)
|
rs770262329
|
0.00004
|
NM_000288.4(PEX7):c.116A>C (p.His39Pro)
|
rs61753237
|
0.00003
|
NM_000288.4(PEX7):c.653C>T (p.Ala218Val)
|
rs121909151
|
0.00003
|
NM_006214.4(PHYH):c.610G>A (p.Gly204Ser)
|
rs104894173
|
0.00001
|
NC_000006.11:g.(?_137187765)_(137191141_?)dup
|
|
|
NC_000006.11:g.(?_137191125)_(137199715_?)del
|
|
|
NM_000288.4(PEX7):c.131-1G>A
|
rs2115129048
|
|
NM_000288.4(PEX7):c.183del (p.Phe61fs)
|
rs774131564
|
|
NM_000288.4(PEX7):c.188+2del
|
|
|
NM_000288.4(PEX7):c.224G>A (p.Trp75Ter)
|
|
|
NM_000288.4(PEX7):c.257G>A (p.Cys86Tyr)
|
rs61753240
|
|
NM_000288.4(PEX7):c.277C>T (p.Gln93Ter)
|
rs763514968
|
|
NM_000288.4(PEX7):c.284G>A (p.Trp95Ter)
|
|
|
NM_000288.4(PEX7):c.340-1G>T
|
rs780751870
|
|
NM_000288.4(PEX7):c.361C>T (p.Gln121Ter)
|
|
|
NM_000288.4(PEX7):c.363_526+230del
|
rs1582744649
|
|
NM_000288.4(PEX7):c.400G>A (p.Asp134Asn)
|
rs764346452
|
|
NM_000288.4(PEX7):c.418-1G>C
|
rs773406384
|
|
NM_000288.4(PEX7):c.468_471dup (p.Ile158fs)
|
|
|
NM_000288.4(PEX7):c.488G>A (p.Trp163Ter)
|
rs1173171051
|
|
NM_000288.4(PEX7):c.506GTT[1] (p.Cys170del)
|
|
|
NM_000288.4(PEX7):c.513del (p.Phe171fs)
|
|
|
NM_000288.4(PEX7):c.538_539del (p.Leu180fs)
|
rs1582757650
|
|
NM_000288.4(PEX7):c.549G>A (p.Trp183Ter)
|
|
|
NM_000288.4(PEX7):c.633+1G>A
|
rs1057516989
|
|
NM_000288.4(PEX7):c.634-2A>G
|
|
|
NM_000288.4(PEX7):c.736_747+17del
|
rs1057517257
|
|
NM_000288.4(PEX7):c.747+1G>A
|
|
|
NM_000288.4(PEX7):c.747+2T>A
|
|
|
NM_000288.4(PEX7):c.747del (p.Lys249fs)
|
|
|
NM_000288.4(PEX7):c.748-2A>G
|
rs778862698
|
|
NM_000288.4(PEX7):c.74C>T (p.Ser25Phe)
|
rs61753236
|
|
NM_000288.4(PEX7):c.803+1G>A
|
|
|
NM_000288.4(PEX7):c.870_871insCAA (p.Cys290_Gly291insGln)
|
rs267608257
|
|
NM_006214.4(PHYH):c.124C>T (p.Gln42Ter)
|
|
|
NM_006214.4(PHYH):c.225del (p.Asp75fs)
|
|
|
NM_006214.4(PHYH):c.343G>T (p.Glu115Ter)
|
|
|
NM_006214.4(PHYH):c.388del (p.Leu130fs)
|
|
|
NM_006214.4(PHYH):c.399C>G (p.Tyr133Ter)
|
|
|
NM_006214.4(PHYH):c.414+2T>C
|
rs1554784939
|
|
NM_006214.4(PHYH):c.415-1G>T
|
|
|
NM_006214.4(PHYH):c.426del (p.Lys141_Tyr142insTer)
|
|
|
NM_006214.4(PHYH):c.488del (p.Pro163fs)
|
|
|
NM_006214.4(PHYH):c.497-1G>A
|
rs761927136
|
|
NM_006214.4(PHYH):c.502A>T (p.Lys168Ter)
|
|
|
NM_006214.4(PHYH):c.50dup (p.Gly18fs)
|
|
|
NM_006214.4(PHYH):c.520dup (p.Leu174fs)
|
|
|
NM_006214.4(PHYH):c.527_528del (p.Gln176fs)
|
|
|
NM_006214.4(PHYH):c.549_550delinsT (p.Arg184fs)
|
|
|
NM_006214.4(PHYH):c.578G>A (p.Trp193Ter)
|
|
|
NM_006214.4(PHYH):c.640A>T (p.Lys214Ter)
|
|
|
NM_006214.4(PHYH):c.684del (p.Val229fs)
|
|
|
NM_006214.4(PHYH):c.686_687del (p.Val229fs)
|
|
|
NM_006214.4(PHYH):c.766_767del (p.Val256fs)
|
rs797045100
|
|
NM_006214.4(PHYH):c.811del (p.Thr271fs)
|
rs2131634446
|
|
NM_006214.4(PHYH):c.896del (p.Asn299fs)
|
|
|