NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)
|
rs80338933
|
0.00067
|
NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys)
|
rs80338926
|
0.00003
|
NM_024577.4(SH3TC2):c.2710C>T (p.Arg904Ter)
|
rs80338931
|
0.00003
|
NM_024577.4(SH3TC2):c.279G>A (p.Lys93=)
|
rs776221160
|
0.00003
|
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter)
|
rs80338934
|
0.00003
|
NM_024577.4(SH3TC2):c.3512G>T (p.Arg1171Leu)
|
rs200728983
|
0.00003
|
NM_024577.4(SH3TC2):c.929G>A (p.Gly310Glu)
|
rs763949764
|
0.00003
|
NM_024577.4(SH3TC2):c.1969G>A (p.Glu657Lys)
|
rs80338925
|
0.00002
|
NM_024577.4(SH3TC2):c.1384G>T (p.Glu462Ter)
|
rs749850181
|
0.00001
|
NM_024577.4(SH3TC2):c.1978C>T (p.Gln660Ter)
|
rs1554121665
|
0.00001
|
NM_024577.4(SH3TC2):c.211C>T (p.Gln71Ter)
|
rs864622663
|
0.00001
|
NM_024577.4(SH3TC2):c.2528G>T (p.Gly843Val)
|
rs1463859150
|
0.00001
|
NM_024577.4(SH3TC2):c.2642A>G (p.Asn881Ser)
|
rs80338930
|
0.00001
|
NM_024577.4(SH3TC2):c.2775G>A (p.Trp925Ter)
|
rs757701609
|
0.00001
|
NM_024577.4(SH3TC2):c.2829T>G (p.Tyr943Ter)
|
rs80338932
|
0.00001
|
NM_024577.4(SH3TC2):c.3143T>C (p.Leu1048Pro)
|
rs537759361
|
0.00001
|
NM_024577.4(SH3TC2):c.3511C>T (p.Arg1171Cys)
|
rs759785462
|
0.00001
|
NM_024577.4(SH3TC2):c.3596G>A (p.Trp1199Ter)
|
rs761972717
|
0.00001
|
NM_024577.4(SH3TC2):c.3627T>A (p.Tyr1209Ter)
|
rs1248359114
|
0.00001
|
NM_024577.4(SH3TC2):c.375C>A (p.Tyr125Ter)
|
rs1754425732
|
0.00001
|
NM_024577.4(SH3TC2):c.386-2A>C
|
rs145670786
|
0.00001
|
NM_024577.4(SH3TC2):c.798T>G (p.Tyr266Ter)
|
rs377509077
|
0.00001
|
NC_000005.10:g.(?_149040594)_(149040687_?)del
|
|
|
NC_000005.10:g.(?_149047842)_(149048009_?)del
|
|
|
NC_000005.9:g.(?_148360713)_(148443737_?)del
|
|
|
NC_000005.9:g.(?_148420147)_(148420260_?)del
|
|
|
NC_000005.9:g.(?_148426859)_(148427552_?)del
|
|
|
NM_024577.4(SH3TC2):c.1005del (p.Ser335fs)
|
rs2127398588
|
|
NM_024577.4(SH3TC2):c.1090del (p.Leu364fs)
|
rs2127398558
|
|
NM_024577.4(SH3TC2):c.1228dup (p.Glu410fs)
|
|
|
NM_024577.4(SH3TC2):c.1366del (p.Asp455_Leu456insTer)
|
rs1580901363
|
|
NM_024577.4(SH3TC2):c.1378C>T (p.Gln460Ter)
|
rs1580901350
|
|
NM_024577.4(SH3TC2):c.1462_1465dup (p.Phe489Ter)
|
|
|
NM_024577.4(SH3TC2):c.1520_1523del (p.Phe507fs)
|
rs1561765311
|
|
NM_024577.4(SH3TC2):c.1546A>T (p.Lys516Ter)
|
rs2127397561
|
|
NM_024577.4(SH3TC2):c.1550G>A (p.Trp517Ter)
|
|
|
NM_024577.4(SH3TC2):c.1556_1557insCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAANNNNNNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGTGGGCCAAG (p.Lys519delinsAsnGlyTrpIleMetArgSerGlyAspArgAspHisProGlyTer)
|
rs2127397557
|
|
NM_024577.4(SH3TC2):c.1557_1558insGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAGTGGGCCAAG (p.Lys520delinsAlaGlyArgGlyGlySerCysLeuTer)
|
rs2127397555
|
|
NM_024577.4(SH3TC2):c.1586_1587delinsAG (p.Arg529Gln)
|
rs863224454
|
|
NM_024577.4(SH3TC2):c.1662del (p.Ile555fs)
|
rs863224520
|
|
NM_024577.4(SH3TC2):c.1679del (p.Gly560fs)
|
|
|
NM_024577.4(SH3TC2):c.1717dup (p.Ile573fs)
|
|
|
NM_024577.4(SH3TC2):c.1804del (p.Leu602fs)
|
rs1319576439
|
|
NM_024577.4(SH3TC2):c.1829dup (p.His611fs)
|
|
|
NM_024577.4(SH3TC2):c.1868_1869del (p.Gly623fs)
|
rs1554121691
|
|
NM_024577.4(SH3TC2):c.1998_1999del (p.Pro667fs)
|
|
|
NM_024577.4(SH3TC2):c.1A>G (p.Met1Val)
|
rs864309709
|
|
NM_024577.4(SH3TC2):c.2004del (p.Ser669fs)
|
rs1754097044
|
|
NM_024577.4(SH3TC2):c.2039dup (p.Tyr680Ter)
|
|
|
NM_024577.4(SH3TC2):c.2072_2090del (p.Ala691fs)
|
rs878855092
|
|
NM_024577.4(SH3TC2):c.2083C>T (p.Gln695Ter)
|
rs770170997
|
|
NM_024577.4(SH3TC2):c.2146C>T (p.Gln716Ter)
|
rs1561764925
|
|
NM_024577.4(SH3TC2):c.2211C>A (p.Cys737Ter)
|
rs1318388071
|
|
NM_024577.4(SH3TC2):c.2253_2256dup (p.Ser754fs)
|
|
|
NM_024577.4(SH3TC2):c.2389del (p.Glu797fs)
|
|
|
NM_024577.4(SH3TC2):c.2418T>G (p.Tyr806Ter)
|
rs1561764735
|
|
NM_024577.4(SH3TC2):c.2491_2492del (p.Leu832fs)
|
rs80338929
|
|
NM_024577.4(SH3TC2):c.2551_2554dup (p.Val852fs)
|
rs1754081385
|
|
NM_024577.4(SH3TC2):c.2910C>A (p.Tyr970Ter)
|
|
|
NM_024577.4(SH3TC2):c.2989del (p.Arg997fs)
|
rs1174949678
|
|
NM_024577.4(SH3TC2):c.3040del (p.Asn1013_Leu1014insTer)
|
|
|
NM_024577.4(SH3TC2):c.3078C>A (p.Cys1026Ter)
|
rs2127393407
|
|
NM_024577.4(SH3TC2):c.307C>T (p.Gln103Ter)
|
|
|
NM_024577.4(SH3TC2):c.3141del (p.Trp1047fs)
|
|
|
NM_024577.4(SH3TC2):c.3154C>T (p.Arg1052Ter)
|
rs370115218
|
|
NM_024577.4(SH3TC2):c.3303del (p.Arg1101fs)
|
rs864622664
|
|
NM_024577.4(SH3TC2):c.3321C>A (p.Tyr1107Ter)
|
rs1580889866
|
|
NM_024577.4(SH3TC2):c.3327+1G>A
|
rs2127392839
|
|
NM_024577.4(SH3TC2):c.3328-1G>T
|
rs1554120331
|
|
NM_024577.4(SH3TC2):c.3425_3435del (p.Tyr1142fs)
|
rs1222150652
|
|
NM_024577.4(SH3TC2):c.3504_3518del (p.Phe1169_Ala1173del)
|
|
|
NM_024577.4(SH3TC2):c.3508_3516del (p.His1170_Leu1172del)
|
rs1753702797
|
|
NM_024577.4(SH3TC2):c.3676-8G>A
|
rs772823083
|
|
NM_024577.4(SH3TC2):c.496G>T (p.Glu166Ter)
|
rs1554122847
|
|
NM_024577.4(SH3TC2):c.524del (p.Gln175fs)
|
rs1561770179
|
|
NM_024577.4(SH3TC2):c.591C>A (p.Cys197Ter)
|
|
|
NM_024577.4(SH3TC2):c.620C>G (p.Ser207Ter)
|
rs1754371447
|
|
NM_024577.4(SH3TC2):c.676C>T (p.Gln226Ter)
|
rs2127400649
|
|
NM_024577.4(SH3TC2):c.805+2T>C
|
rs139052887
|
|
NM_024577.4(SH3TC2):c.819dup (p.Lys274Ter)
|
rs1754320158
|
|
NM_024577.4(SH3TC2):c.822_850dup (p.Lys284delinsArgProTer)
|
rs1754319130
|
|
NM_024577.4(SH3TC2):c.920G>A (p.Trp307Ter)
|
rs80338921
|
|
NM_024577.4(SH3TC2):c.96_99dup (p.Ala34fs)
|
|
|