NC_000006.12:g.(?_136821564)_(136914934_?)dup
|
rs0 |
NM_000288.4(PEX7):c.116A>G (p.His39Arg)
|
rs0 |
NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter)
|
rs61753238 |
NM_000288.4(PEX7):c.128C>T (p.Ala43Val)
|
rs0 |
NM_000288.4(PEX7):c.130+1G>A
|
rs267608253 |
NM_000288.4(PEX7):c.183del (p.Phe61fs)
|
rs774131564 |
NM_000288.4(PEX7):c.188+1G>C
|
rs267608254 |
NM_000288.4(PEX7):c.188+3A>G
|
rs200234391 |
NM_000288.4(PEX7):c.203A>T (p.Asp68Val)
|
rs763388501 |
NM_000288.4(PEX7):c.216T>C (p.Asp72=)
|
rs1582732837 |
NM_000288.4(PEX7):c.244G>A (p.Val82Ile)
|
rs0 |
NM_000288.4(PEX7):c.315A>G (p.Gln105=)
|
rs767901695 |
NM_000288.4(PEX7):c.330C>T (p.His110=)
|
rs199648976 |
NM_000288.4(PEX7):c.340-10A>G
|
rs267608255 |
NM_000288.4(PEX7):c.340-8G>A
|
rs528317074 |
NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter)
|
rs121909154 |
NM_000288.4(PEX7):c.363_526+230del
|
rs1582744649 |
NM_000288.4(PEX7):c.373G>A (p.Glu125Lys)
|
rs0 |
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro)
|
rs113268723 |
NM_000288.4(PEX7):c.418-1G>C
|
rs0 |
NM_000288.4(PEX7):c.418-4G>T
|
rs199552223 |
NM_000288.4(PEX7):c.429del (p.Val144fs)
|
rs61753248 |
NM_000288.4(PEX7):c.45_52dup (p.His18fs)
|
rs63535662 |
NM_000288.4(PEX7):c.49_70dup (p.Phe24fs)
|
rs0 |
NM_000288.4(PEX7):c.592C>T (p.Gln198Ter)
|
rs764924345 |
NM_000288.4(PEX7):c.615C>T (p.Asp205=)
|
rs147298444 |
NM_000288.4(PEX7):c.640C>T (p.Leu214=)
|
rs1582759870 |
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg)
|
rs121909152 |
NM_000288.4(PEX7):c.653C>T (p.Ala218Val)
|
rs121909151 |
NM_000288.4(PEX7):c.694C>T (p.Arg232Ter)
|
rs121909153 |
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln)
|
rs191969418 |
NM_000288.4(PEX7):c.6_12TGCGGTG[3] (p.Gly7fs)
|
rs62636519 |
NM_000288.4(PEX7):c.736_747+17del
|
rs1057517257 |
NM_000288.4(PEX7):c.74C>T (p.Ser25Phe)
|
rs61753236 |
NM_000288.4(PEX7):c.867T>C (p.Thr289=)
|
rs936175997 |
NM_000288.4(PEX7):c.86C>T (p.Pro29Leu)
|
rs757852291 |
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter)
|
rs1805137 |
NM_000288.4(PEX7):c.903+1G>C
|
rs148591292 |
NM_000288.4(PEX7):c.903+7G>T
|
rs1227993935 |
NM_000288.4(PEX7):c.903+8A>G
|
rs779919482 |
NM_000288.4(PEX7):c.904-4C>G
|
rs0 |
NM_000288.4(PEX7):c.94C>T (p.Leu32=)
|
rs886061118 |