| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.169541008_169541115del | CA1233755 | F5 | c.4000_4107del (p.Phe1334_Asp1369del) c.4015_4122del (p.Phe1339_Asp1374del) c.3589_3696del (p.Phe1197_Asp1232del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.169541008_169541116delinsGGGTCTGGAGAAAGGGGCATCTGACCGAGGGCTGGGGAAAGGTTTGTTTGACTGAGTTCTGGAGAGAGGTTTGTCTGGCTGAAGTCTAGAGAAAGGGTTGTATGGCTGA | CA1206140029 | F5 | c.3974_4082delinsTCAGCCATACAACCCTTTCTCTAGACTTCAGCCAGACAAACCTCTCTCCAGAACTCAGTCAAACAAACCTTTCCCCAGCCCTCGGTCAGATGCCCCTTTCTCCAGACCC (p.Leu1325=) c.3989_4097delinsTCAGCCATACAACCCTTTCTCTAGACTTCAGCCAGACAAACCTCTCTCCAGAACTCAGTCAAACAAACCTTTCCCCAGCCCTCGGTCAGATGCCCCTTTCTCCAGACCC (p.Leu1330=) c.3563_3671delinsTCAGCCATACAACCCTTTCTCTAGACTTCAGCCAGACAAACCTCTCTCCAGAACTCAGTCAAACAAACCTTTCCCCAGCCCTCGGTCAGATGCCCCTTTCTCCAGACCC (p.Leu1188=) | |
| 1 | g.169541021_169541128del | CA1008977761 | F5 | c.3974_4081del (p.Leu1325_Asp1360del) c.3989_4096del (p.Leu1330_Asp1365del) c.3563_3670del (p.Leu1188_Asp1223del) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.169541021_169541129delinsGGGGCATCTGACCGAGGGCTGGGGAAAGGTTTGTTTGACTGAGTTCTGGAGAGAGGTTTGTCTGGCTGAAGTCTAGAGAAAGGGTTGTATGGCTGAGGTCTGGAGAAAT | CA1206140034 | F5 | c.3961_4069delinsATTTCTCCAGACCTCAGCCATACAACCCTTTCTCTAGACTTCAGCCAGACAAACCTCTCTCCAGAACTCAGTCAAACAAACCTTTCCCCAGCCCTCGGTCAGATGCCCC (p.Ile1321=) c.3976_4084delinsATTTCTCCAGACCTCAGCCATACAACCCTTTCTCTAGACTTCAGCCAGACAAACCTCTCTCCAGAACTCAGTCAAACAAACCTTTCCCCAGCCCTCGGTCAGATGCCCC (p.Ile1326=) c.3550_3658delinsATTTCTCCAGACCTCAGCCATACAACCCTTTCTCTAGACTTCAGCCAGACAAACCTCTCTCCAGAACTCAGTCAAACAAACCTTTCCCCAGCCCTCGGTCAGATGCCCC (p.Ile1184=) | |
| 1 | g.169541055_169541162del | CA1233764 | F5 | c.3961_4068del (p.Ile1321_Pro1356del) c.3976_4083del (p.Ile1326_Pro1361del) c.3550_3657del (p.Ile1184_Pro1219del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.169541036_169541142del | CA2649034377 | F5 | c.3948_4054del (p.Gly1317ArgfsTer?) c.3963_4069del (p.Gly1322ArgfsTer?) c.3537_3643del (p.Gly1180ArgfsTer?) | gnomAD v4 |
| 1 | g.169541055_169541163delinsTTGACTGAGTTCTGGAGAGAGGTTTGTCTGGCTGAAGTCTAGAGAAAGGGTTGTATGGCTGAGGTCTGGAGAAATGGGCATCTGACCGAGGGCTGGGGAAAGGTTTGTC | CA1206140055 | F5 | c.3927_4035delinsGACAAACCTTTCCCCAGCCCTCGGTCAGATGCCCATTTCTCCAGACCTCAGCCATACAACCCTTTCTCTAGACTTCAGCCAGACAAACCTCTCTCCAGAACTCAGTCAA (p.Gln1309=) c.3942_4050delinsGACAAACCTTTCCCCAGCCCTCGGTCAGATGCCCATTTCTCCAGACCTCAGCCATACAACCCTTTCTCTAGACTTCAGCCAGACAAACCTCTCTCCAGAACTCAGTCAA (p.Gln1314=) c.3516_3624delinsGACAAACCTTTCCCCAGCCCTCGGTCAGATGCCCATTTCTCCAGACCTCAGCCATACAACCCTTTCTCTAGACTTCAGCCAGACAAACCTCTCTCCAGAACTCAGTCAA (p.Gln1172=) | |
| 1 | g.169541055_169541298delinsTTGACTGAGTTCTGGAGAGAGGTTTGTCTGGCTGAAGTCTAGAGAAAGGGTTGTATGGCTGAGGTCTGGAGAAATGGGCATCTGACCGAGGGCTGGGGAAAGGTTTGTCTGACTGAGTTCTGGAGAGAGAGTCATATGGCTGAGTTCTGGAGAGAGGTTTGTCTGGCTGAAGTCTAGAGAAAGGGTTGTATGGCTGAGGTCTGGAGAAAGGGGCATCTGACCGAGGGCTGGAGAAAGGTTTGTC | CA1206140054 | F5 | c.3792_4035delinsGACAAACCTTTCTCCAGCCCTCGGTCAGATGCCCCTTTCTCCAGACCTCAGCCATACAACCCTTTCTCTAGACTTCAGCCAGACAAACCTCTCTCCAGAACTCAGCCATATGACTCTCTCTCCAGAACTCAGTCAGACAAACCTTTCCCCAGCCCTCGGTCAGATGCCCATTTCTCCAGACCTCAGCCATACAACCCTTTCTCTAGACTTCAGCCAGACAAACCTCTCTCCAGAACTCAGTCAA (p.Gln1264=) c.3807_4050delinsGACAAACCTTTCTCCAGCCCTCGGTCAGATGCCCCTTTCTCCAGACCTCAGCCATACAACCCTTTCTCTAGACTTCAGCCAGACAAACCTCTCTCCAGAACTCAGCCATATGACTCTCTCTCCAGAACTCAGTCAGACAAACCTTTCCCCAGCCCTCGGTCAGATGCCCATTTCTCCAGACCTCAGCCATACAACCCTTTCTCTAGACTTCAGCCAGACAAACCTCTCTCCAGAACTCAGTCAA (p.Gln1269=) c.3381_3624delinsGACAAACCTTTCTCCAGCCCTCGGTCAGATGCCCCTTTCTCCAGACCTCAGCCATACAACCCTTTCTCTAGACTTCAGCCAGACAAACCTCTCTCCAGAACTCAGCCATATGACTCTCTCTCCAGAACTCAGTCAGACAAACCTTTCCCCAGCCCTCGGTCAGATGCCCATTTCTCCAGACCTCAGCCATACAACCCTTTCTCTAGACTTCAGCCAGACAAACCTCTCTCCAGAACTCAGTCAA (p.Gln1127=) | |
| 1 | g.169541076_169541183del | CA1008977807 | F5 | c.3927_4034del (p.Thr1310_Gln1345del) c.3942_4049del (p.Thr1315_Gln1350del) c.3516_3623del (p.Thr1173_Gln1208del) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.169541090_169541332del | CA1008977809 | F5 | c.3792_4034del (p.Thr1265_Gln1345del) c.3807_4049del (p.Thr1270_Gln1350del) c.3381_3623del (p.Thr1128_Gln1208del) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.169541129_169541263del | CA1008977818 | F5 | c.3897_4031del (p.His1300_Ser1344del) c.3912_4046del (p.His1305_Ser1349del) c.3486_3620del (p.His1163_Ser1207del) | gnomAD v3 gnomAD v4 |
| 1 | g.169541110T>A | CA343146217 | F5 | c.3980A>T (p.His1327Leu) c.3995A>T (p.His1332Leu) c.3569A>T (p.His1190Leu) | |
| 1 | g.169541110T>C | CA1233780 | F5 | c.3980A>G (p.His1327Arg) c.3995A>G (p.His1332Arg) c.3569A>G (p.His1190Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.169541110T>G | CA343146213 | F5 | c.3980A>C (p.His1327Pro) c.3995A>C (p.His1332Pro) c.3569A>C (p.His1190Pro) | dbSNP gnomAD v4 |
| 1 | g.169541110T= | CA1139895135 | F5 | c.3980A= (p.His1327=) c.3995A= (p.His1332=) c.3569A= (p.His1190=) | |
| 1 | g.169541111G>A | CA343146220 | F5 | c.3979C>T (p.His1327Tyr) c.3994C>T (p.His1332Tyr) c.3568C>T (p.His1190Tyr) | |
| 1 | g.169541111G>C | CA343146222 | F5 | c.3979C>G (p.His1327Asp) c.3994C>G (p.His1332Asp) c.3568C>G (p.His1190Asp) | |
| 1 | g.169541111G>T | CA343146223 | F5 | c.3979C>A (p.His1327Asn) c.3994C>A (p.His1332Asn) c.3568C>A (p.His1190Asn) | |
| 1 | g.169541112G>A | CA421930323 | F5 | c.3978C>T (p.Ser1326=) c.3993C>T (p.Ser1331=) c.3567C>T (p.Ser1189=) | |
| 1 | g.169541112G>C | CA32440108 | F5 | c.3978C>G (p.Ser1326Arg) c.3993C>G (p.Ser1331Arg) c.3567C>G (p.Ser1189Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.169541112G= | CA1206140082 | F5 | c.3978C= (p.Ser1326=) c.3993C= (p.Ser1331=) c.3567C= (p.Ser1189=) | |
| 1 | g.169541112G>T | CA343146230 | F5 | c.3978C>A (p.Ser1326Arg) c.3993C>A (p.Ser1331Arg) c.3567C>A (p.Ser1189Arg) | |
| 1 | g.169541113C>A | CA343146233 | F5 | c.3977G>T (p.Ser1326Ile) c.3992G>T (p.Ser1331Ile) c.3566G>T (p.Ser1189Ile) | |
| 1 | g.169541113C>G | CA343146237 | F5 | c.3977G>C (p.Ser1326Thr) c.3992G>C (p.Ser1331Thr) c.3566G>C (p.Ser1189Thr) | |
| 1 | g.169541113C>T | CA343146235 | F5 | c.3977G>A (p.Ser1326Asn) c.3992G>A (p.Ser1331Asn) c.3566G>A (p.Ser1189Asn) | |
| 1 | g.169541114T>A | CA343146241 | F5 | c.3976A>T (p.Ser1326Cys) c.3991A>T (p.Ser1331Cys) c.3565A>T (p.Ser1189Cys) | |
| 1 | g.169541114T>C | CA343146243 | F5 | c.3976A>G (p.Ser1326Gly) c.3991A>G (p.Ser1331Gly) c.3565A>G (p.Ser1189Gly) | |
| 1 | g.169541114T>G | CA343146244 | F5 | c.3976A>C (p.Ser1326Arg) c.3991A>C (p.Ser1331Arg) c.3565A>C (p.Ser1189Arg) | |
| 1 | g.169541115G>A | CA421930332 | F5 | c.3975C>T (p.Leu1325=) c.3990C>T (p.Leu1330=) c.3564C>T (p.Leu1188=) | gnomAD v4 COSMIC |
| 1 | g.169541115G>C | CA421930334 | F5 | c.3975C>G (p.Leu1325=) c.3990C>G (p.Leu1330=) c.3564C>G (p.Leu1188=) | |
| 1 | g.169541115G>T | CA421930335 | F5 | c.3975C>A (p.Leu1325=) c.3990C>A (p.Leu1330=) c.3564C>A (p.Leu1188=) | |
| 1 | g.169541116A= | CA1206140083 | F5 | c.3974T= (p.Leu1325=) c.3989T= (p.Leu1330=) c.3563T= (p.Leu1188=) | |
| 1 | g.169541116A>C | CA343146247 | F5 | c.3974T>G (p.Leu1325Arg) c.3989T>G (p.Leu1330Arg) c.3563T>G (p.Leu1188Arg) | |
| 1 | g.169541116A>G | CA32440113 | F5 | c.3974T>C (p.Leu1325Pro) c.3989T>C (p.Leu1330Pro) c.3563T>C (p.Leu1188Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.169541116A>T | CA343146250 | F5 | c.3974T>A (p.Leu1325His) c.3989T>A (p.Leu1330His) c.3563T>A (p.Leu1188His) | |
| 1 | g.169541117G>A | CA1233781 | F5 | c.3973C>T (p.Leu1325Phe) c.3988C>T (p.Leu1330Phe) c.3562C>T (p.Leu1188Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.169541117G>C | CA343146255 | F5 | c.3973C>G (p.Leu1325Val) c.3988C>G (p.Leu1330Val) c.3562C>G (p.Leu1188Val) | |
| 1 | g.169541117G= | CA1206140084 | F5 | c.3973C= (p.Leu1325=) c.3988C= (p.Leu1330=) c.3562C= (p.Leu1188=) | |
| 1 | g.169541117G>T | CA343146257 | F5 | c.3973C>A (p.Leu1325Ile) c.3988C>A (p.Leu1330Ile) c.3562C>A (p.Leu1188Ile) | |
| 1 | g.169541118G>A | CA421930337 | F5 | c.3972C>T (p.Asp1324=) c.3987C>T (p.Asp1329=) c.3561C>T (p.Asp1187=) | dbSNP |
| 1 | g.169541118G>C | CA343146258 | F5 | c.3972C>G (p.Asp1324Glu) c.3987C>G (p.Asp1329Glu) c.3561C>G (p.Asp1187Glu) | |
| 1 | g.169541118G>T | CA343146259 | F5 | c.3972C>A (p.Asp1324Glu) c.3987C>A (p.Asp1329Glu) c.3561C>A (p.Asp1187Glu) | |
| 1 | g.169541119T>A | CA343146265 | F5 | c.3971A>T (p.Asp1324Val) c.3986A>T (p.Asp1329Val) c.3560A>T (p.Asp1187Val) | |
| 1 | g.169541119T>C | CA343146263 | F5 | c.3971A>G (p.Asp1324Gly) c.3986A>G (p.Asp1329Gly) c.3560A>G (p.Asp1187Gly) | |
| 1 | g.169541119T>G | CA343146261 | F5 | c.3971A>C (p.Asp1324Ala) c.3986A>C (p.Asp1329Ala) c.3560A>C (p.Asp1187Ala) | dbSNP |
| 1 | g.169541119T= | CA1206140085 | F5 | c.3971A= (p.Asp1324=) c.3986A= (p.Asp1329=) c.3560A= (p.Asp1187=) | |
| 1 | g.169541120C>A | CA343146268 | F5 | c.3970G>T (p.Asp1324Tyr) c.3985G>T (p.Asp1329Tyr) c.3559G>T (p.Asp1187Tyr) | |
| 1 | g.169541120C>G | CA343146273 | F5 | c.3970G>C (p.Asp1324His) c.3985G>C (p.Asp1329His) c.3559G>C (p.Asp1187His) | |
| 1 | g.169541120C>T | CA343146270 | F5 | c.3970G>A (p.Asp1324Asn) c.3985G>A (p.Asp1329Asn) c.3559G>A (p.Asp1187Asn) | |
| 1 | g.169541121T>A | CA421930022 | F5 | c.3969A>T (p.Pro1323=) c.3984A>T (p.Pro1328=) c.3558A>T (p.Pro1186=) | dbSNP |