NM_001130438.3(SPTAN1):c.4027C>T (p.Arg1343Cys)
|
rs138827421
|
0.00002
|
NM_001130438.3(SPTAN1):c.6764G>A (p.Arg2255His)
|
rs201693154
|
0.00001
|
NM_001130438.3(SPTAN1):c.1086-2A>C
|
rs2131028639
|
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NM_001130438.3(SPTAN1):c.1210C>T (p.Gln404Ter)
|
rs2131030804
|
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NM_001130438.3(SPTAN1):c.1390_1398dup (p.Cys466_Met467insGluGlnCys)
|
|
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NM_001130438.3(SPTAN1):c.1572+1G>T
|
|
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NM_001130438.3(SPTAN1):c.1595A>G (p.Lys532Arg)
|
rs886063501
|
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NM_001130438.3(SPTAN1):c.2570C>T (p.Ala857Val)
|
rs2131193011
|
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NM_001130438.3(SPTAN1):c.3007-2A>G
|
|
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NM_001130438.3(SPTAN1):c.316G>A (p.Gly106Arg)
|
rs1564197227
|
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NM_001130438.3(SPTAN1):c.3299C>T (p.Ala1100Val)
|
|
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NM_001130438.3(SPTAN1):c.3520-2A>G
|
|
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NM_001130438.3(SPTAN1):c.363+1G>A
|
rs1554737064
|
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NM_001130438.3(SPTAN1):c.3716A>G (p.His1239Arg)
|
rs1554756114
|
|
NM_001130438.3(SPTAN1):c.415C>T (p.Arg139Ter)
|
rs1851109762
|
|
NM_001130438.3(SPTAN1):c.4460A>T (p.His1487Leu)
|
rs1589311413
|
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NM_001130438.3(SPTAN1):c.4640T>A (p.Leu1547Gln)
|
rs1856289676
|
|
NM_001130438.3(SPTAN1):c.4828C>T (p.Arg1610Trp)
|
rs1131691643
|
|
NM_001130438.3(SPTAN1):c.5017A>G (p.Lys1673Glu)
|
rs2131682815
|
|
NM_001130438.3(SPTAN1):c.5194A>T (p.Ser1732Cys)
|
rs2131744077
|
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NM_001130438.3(SPTAN1):c.5326C>T (p.Arg1776Trp)
|
rs1232614751
|
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NM_001130438.3(SPTAN1):c.533G>A (p.Gly178Asp)
|
rs2130975930
|
|
NM_001130438.3(SPTAN1):c.5567_5568del (p.His1856fs)
|
|
|
NM_001130438.3(SPTAN1):c.5921A>G (p.Lys1974Arg)
|
rs1858423393
|
|
NM_001130438.3(SPTAN1):c.6184C>T (p.Arg2062Trp)
|
rs2131953982
|
|
NM_001130438.3(SPTAN1):c.6338A>T (p.Glu2113Val)
|
rs2131965427
|
|
NM_001130438.3(SPTAN1):c.6370C>T (p.Arg2124Cys)
|
rs1193718145
|
|
NM_001130438.3(SPTAN1):c.656A>G (p.Gln219Arg)
|
rs1851359623
|
|
NM_001130438.3(SPTAN1):c.6592_6597dup (p.Leu2198_Gln2199dup)
|
rs1589393179
|
|
NM_001130438.3(SPTAN1):c.6616GAG[1] (p.Glu2207del)
|
rs587784438
|
|
NM_001130438.3(SPTAN1):c.6622_6624del (p.Asn2208del)
|
rs2131985621
|
|
NM_001130438.3(SPTAN1):c.6690-17G>A
|
rs1554767335
|
|
NM_001130438.3(SPTAN1):c.6811G>A (p.Glu2271Lys)
|
rs1859859572
|
|
NM_001130438.3(SPTAN1):c.6843_6848del (p.Ile2282_Leu2283del)
|
rs1589416130
|
|
NM_001130438.3(SPTAN1):c.6850_6852del (p.Asp2284del)
|
rs2132088836
|
|
NM_001130438.3(SPTAN1):c.6899A>T (p.Asp2300Val)
|
rs796053327
|
|
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[1] (p.2300DQL[1])
|
rs587784440
|
|
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3])
|
rs587784440
|
|
NM_001130438.3(SPTAN1):c.6910_6918del (p.Gln2304_Gly2306del)
|
rs796053334
|
|
NM_001130438.3(SPTAN1):c.6917GCATGC[3] (p.Arg2308_Met2309dup)
|
rs796053335
|
|
NM_001130438.3(SPTAN1):c.6922C>T (p.Arg2308Cys)
|
rs1554768992
|
|
NM_001130438.3(SPTAN1):c.6943C>G (p.Gln2315Glu)
|
rs1554769022
|
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NM_001130438.3(SPTAN1):c.6959+1G>T
|
|
|
NM_001130438.3(SPTAN1):c.7012A>G (p.Lys2338Glu)
|
rs1554769099
|
|
NM_001130438.3(SPTAN1):c.7161-2_7174del
|
rs2132105386
|
|
NM_001130438.3(SPTAN1):c.840dup (p.Asp281Ter)
|
rs2131011877
|
|
NM_001130438.3(SPTAN1):c.917C>T (p.Ala306Val)
|
rs2131012797
|
|