| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.7582833A= | CA1608623651 | DSP | c.4242A= (p.Lys1414=) c.5571A= (p.Lys1857=) c.3774A= (p.Lys1258=) | |
| 6 | g.7582833A>C | CA362688916 | DSP | c.4242A>C (p.Lys1414Asn) c.5571A>C (p.Lys1857Asn) c.3774A>C (p.Lys1258Asn) | |
| 6 | g.7582833A>G | CA133972011 | DSP | c.4242A>G (p.Lys1414=) c.5571A>G (p.Lys1857=) c.3774A>G (p.Lys1258=) | dbSNP |
| 6 | g.7582833A>T | CA362688917 | DSP | c.4242A>T (p.Lys1414Asn) c.5571A>T (p.Lys1857Asn) c.3774A>T (p.Lys1258Asn) | |
| 6 | g.7582834C>A | CA362688918 | DSP | c.4243C>A (p.Gln1415Lys) c.5572C>A (p.Gln1858Lys) c.3775C>A (p.Gln1259Lys) | |
| 6 | g.7582834C= | CA1608623659 | DSP | c.4243C= (p.Gln1415=) c.5572C= (p.Gln1858=) c.3775C= (p.Gln1259=) | |
| 6 | g.7582834C>G | CA362688920 | DSP | c.4243C>G (p.Gln1415Glu) c.5572C>G (p.Gln1858Glu) c.3775C>G (p.Gln1259Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7582834C>T | CA362688919 | DSP | c.4243C>T (p.Gln1415Ter) c.5572C>T (p.Gln1858Ter) c.3775C>T (p.Gln1259Ter) | |
| 6 | g.7582835A>C | CA362688921 | DSP | c.4244A>C (p.Gln1415Pro) c.5573A>C (p.Gln1858Pro) c.3776A>C (p.Gln1259Pro) | |
| 6 | g.7582835A>G | CA362688922 | DSP | c.4244A>G (p.Gln1415Arg) c.5573A>G (p.Gln1858Arg) c.3776A>G (p.Gln1259Arg) | gnomAD v4 |
| 6 | g.7582835A>T | CA362688923 | DSP | c.4244A>T (p.Gln1415Leu) c.5573A>T (p.Gln1858Leu) c.3776A>T (p.Gln1259Leu) | |
| 6 | g.7582836G>A | CA448715365 | DSP | c.4245G>A (p.Gln1415=) c.5574G>A (p.Gln1858=) c.3777G>A (p.Gln1259=) | |
| 6 | g.7582836G>C | CA362688924 | DSP | c.4245G>C (p.Gln1415His) c.5574G>C (p.Gln1858His) c.3777G>C (p.Gln1259His) | |
| 6 | g.7582836G>T | CA362688925 | DSP | c.4245G>T (p.Gln1415His) c.5574G>T (p.Gln1858His) c.3777G>T (p.Gln1259His) | |
| 6 | g.7582837C>A | CA362688926 | DSP | c.4246C>A (p.Gln1416Lys) c.5575C>A (p.Gln1859Lys) c.3778C>A (p.Gln1260Lys) | |
| 6 | g.7582837C>G | CA362688927 | DSP | c.4246C>G (p.Gln1416Glu) c.5575C>G (p.Gln1859Glu) c.3778C>G (p.Gln1260Glu) | |
| 6 | g.7582837C>T | CA362688928 | DSP | c.4246C>T (p.Gln1416Ter) c.5575C>T (p.Gln1859Ter) c.3778C>T (p.Gln1260Ter) | |
| 6 | g.7582838A= | CA1608623666 | DSP | c.4247A= (p.Gln1416=) c.5576A= (p.Gln1859=) c.3779A= (p.Gln1260=) | |
| 6 | g.7582838A>C | CA362688929 | DSP | c.4247A>C (p.Gln1416Pro) c.5576A>C (p.Gln1859Pro) c.3779A>C (p.Gln1260Pro) | dbSNP |
| 6 | g.7582838A>G | CA362688930 | DSP | c.4247A>G (p.Gln1416Arg) c.5576A>G (p.Gln1859Arg) c.3779A>G (p.Gln1260Arg) | |
| 6 | g.7582838A>T | CA362688931 | DSP | c.4247A>T (p.Gln1416Leu) c.5576A>T (p.Gln1859Leu) c.3779A>T (p.Gln1260Leu) | |
| 6 | g.7582839A>C | CA362688933 | DSP | c.4248A>C (p.Gln1416His) c.5577A>C (p.Gln1859His) c.3780A>C (p.Gln1260His) | |
| 6 | g.7582839A>G | CA448715366 | DSP | c.4248A>G (p.Gln1416=) c.5577A>G (p.Gln1859=) c.3780A>G (p.Gln1260=) | |
| 6 | g.7582839A>T | CA362688932 | DSP | c.4248A>T (p.Gln1416His) c.5577A>T (p.Gln1859His) c.3780A>T (p.Gln1260His) | |
| 6 | g.7582840A>C | CA362688934 | DSP | c.4249A>C (p.Ile1417Leu) c.5578A>C (p.Ile1860Leu) c.3781A>C (p.Ile1261Leu) | |
| 6 | g.7582840A>G | CA362688935 | DSP | c.4249A>G (p.Ile1417Val) c.5578A>G (p.Ile1860Val) c.3781A>G (p.Ile1261Val) | |
| 6 | g.7582840A>T | CA362688936 | DSP | c.4249A>T (p.Ile1417Phe) c.5578A>T (p.Ile1860Phe) c.3781A>T (p.Ile1261Phe) | |
| 6 | g.7582841T>A | CA362688937 | DSP | c.4250T>A (p.Ile1417Asn) c.5579T>A (p.Ile1860Asn) c.3782T>A (p.Ile1261Asn) | |
| 6 | g.7582841T>C | CA362688938 | DSP | c.4250T>C (p.Ile1417Thr) c.5579T>C (p.Ile1860Thr) c.3782T>C (p.Ile1261Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7582841T>G | CA362688939 | DSP | c.4250T>G (p.Ile1417Ser) c.5579T>G (p.Ile1860Ser) c.3782T>G (p.Ile1261Ser) | |
| 6 | g.7582841T= | CA1608623669 | DSP | c.4250T= (p.Ile1417=) c.5579T= (p.Ile1860=) c.3782T= (p.Ile1261=) | |
| 6 | g.7582842T>A | CA448715369 | DSP | c.4251T>A (p.Ile1417=) c.5580T>A (p.Ile1860=) c.3783T>A (p.Ile1261=) | |
| 6 | g.7582842T>C | CA448715370 | DSP | c.4251T>C (p.Ile1417=) c.5580T>C (p.Ile1860=) c.3783T>C (p.Ile1261=) | |
| 6 | g.7582842T>G | CA362688940 | DSP | c.4251T>G (p.Ile1417Met) c.5580T>G (p.Ile1860Met) c.3783T>G (p.Ile1261Met) | |
| 6 | g.7582843C>A | CA362688943 | DSP | c.4252C>A (p.Gln1418Lys) c.5581C>A (p.Gln1861Lys) c.3784C>A (p.Gln1262Lys) | |
| 6 | g.7582843C>G | CA362688941 | DSP | c.4252C>G (p.Gln1418Glu) c.5581C>G (p.Gln1861Glu) c.3784C>G (p.Gln1262Glu) | |
| 6 | g.7582843C>T | CA362688942 | DSP | c.4252C>T (p.Gln1418Ter) c.5581C>T (p.Gln1861Ter) c.3784C>T (p.Gln1262Ter) | |
| 6 | g.7582844A= | CA1608623677 | DSP | c.4253A= (p.Gln1418=) c.5582A= (p.Gln1861=) c.3785A= (p.Gln1262=) | |
| 6 | g.7582844A>C | CA006554 | DSP | c.4253A>C (p.Gln1418Pro) c.5582A>C (p.Gln1861Pro) c.3785A>C (p.Gln1262Pro) | ClinVar dbSNP |
| 6 | g.7582844A>G | CA362688944 | DSP | c.4253A>G (p.Gln1418Arg) c.5582A>G (p.Gln1861Arg) c.3785A>G (p.Gln1262Arg) | |
| 6 | g.7582844A>T | CA362688945 | DSP | c.4253A>T (p.Gln1418Leu) c.5582A>T (p.Gln1861Leu) c.3785A>T (p.Gln1262Leu) | |
| 6 | g.7582844_7582853delinsAGAATGACCT | CA1608623695 | DSP | c.4253_4262delinsAGAATGACCT (p.Gln1418=) c.5582_5591delinsAGAATGACCT (p.Gln1861=) c.3785_3794delinsAGAATGACCT (p.Gln1262=) | |
| 6 | g.7582845G>A | CA448715372 | DSP | c.4254G>A (p.Gln1418=) c.5583G>A (p.Gln1861=) c.3786G>A (p.Gln1262=) | COSMIC |
| 6 | g.7582845G>C | CA362688946 | DSP | c.4254G>C (p.Gln1418His) c.5583G>C (p.Gln1861His) c.3786G>C (p.Gln1262His) | |
| 6 | g.7582845G>T | CA362688947 | DSP | c.4254G>T (p.Gln1418His) c.5583G>T (p.Gln1861His) c.3786G>T (p.Gln1262His) | |
| 6 | g.7582849_7582857del | CA565358154 | DSP | c.4258_4266del (p.Asp1420_Asn1422del) c.5587_5595del (p.Asp1863_Asn1865del) c.3790_3798del (p.Asp1264_Asn1266del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7582846A>C | CA362688948 | DSP | c.4255A>C (p.Asn1419His) c.5584A>C (p.Asn1862His) c.3787A>C (p.Asn1263His) | |
| 6 | g.7582846A>G | CA362688950 | DSP | c.4255A>G (p.Asn1419Asp) c.5584A>G (p.Asn1862Asp) c.3787A>G (p.Asn1263Asp) | |
| 6 | g.7582846A>T | CA362688949 | DSP | c.4255A>T (p.Asn1419Tyr) c.5584A>T (p.Asn1862Tyr) c.3787A>T (p.Asn1263Tyr) | ClinVar dbSNP |
| 6 | g.7582847A>C | CA362688951 | DSP | c.4256A>C (p.Asn1419Thr) c.5585A>C (p.Asn1862Thr) c.3788A>C (p.Asn1263Thr) | |
| 6 | g.7582847A>G | CA362688952 | DSP | c.4256A>G (p.Asn1419Ser) c.5585A>G (p.Asn1862Ser) c.3788A>G (p.Asn1263Ser) | |
| 6 | g.7582847A>T | CA362688953 | DSP | c.4256A>T (p.Asn1419Ile) c.5585A>T (p.Asn1862Ile) c.3788A>T (p.Asn1263Ile) | |
| 6 | g.7582848T>A | CA362688954 | DSP | c.4257T>A (p.Asn1419Lys) c.5586T>A (p.Asn1862Lys) c.3789T>A (p.Asn1263Lys) | |
| 6 | g.7582848T>C | CA448715374 | DSP | c.4257T>C (p.Asn1419=) c.5586T>C (p.Asn1862=) c.3789T>C (p.Asn1263=) | |
| 6 | g.7582848T>G | CA045245 | DSP | c.4257T>G (p.Asn1419Lys) c.5586T>G (p.Asn1862Lys) c.3789T>G (p.Asn1263Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7582848T= | CA1608623704 | DSP | c.4257T= (p.Asn1419=) c.5586T= (p.Asn1862=) c.3789T= (p.Asn1263=) | |
| 6 | g.7582849G>A | CA362688955 | DSP | c.4258G>A (p.Asp1420Asn) c.5587G>A (p.Asp1863Asn) c.3790G>A (p.Asp1264Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7582849G>C | CA362688956 | DSP | c.4258G>C (p.Asp1420His) c.5587G>C (p.Asp1863His) c.3790G>C (p.Asp1264His) | |
| 6 | g.7582849G= | CA1608623710 | DSP | c.4258G= (p.Asp1420=) c.5587G= (p.Asp1863=) c.3790G= (p.Asp1264=) | |
| 6 | g.7582849G>T | CA362688957 | DSP | c.4258G>T (p.Asp1420Tyr) c.5587G>T (p.Asp1863Tyr) c.3790G>T (p.Asp1264Tyr) | gnomAD v4 |
| 6 | g.7582850A= | CA1608623717 | DSP | c.4259A= (p.Asp1420=) c.5588A= (p.Asp1863=) c.3791A= (p.Asp1264=) | |
| 6 | g.7582850A>C | CA362688958 | DSP | c.4259A>C (p.Asp1420Ala) c.5588A>C (p.Asp1863Ala) c.3791A>C (p.Asp1264Ala) | |
| 6 | g.7582850A>G | CA362688959 | DSP | c.4259A>G (p.Asp1420Gly) c.5588A>G (p.Asp1863Gly) c.3791A>G (p.Asp1264Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7582850A>T | CA362688960 | DSP | c.4259A>T (p.Asp1420Val) c.5588A>T (p.Asp1863Val) c.3791A>T (p.Asp1264Val) | |
| 6 | g.7582851C>A | CA362688961 | DSP | c.4260C>A (p.Asp1420Glu) c.5589C>A (p.Asp1863Glu) c.3792C>A (p.Asp1264Glu) | |
| 6 | g.7582851C= | CA1608623721 | DSP | c.4260C= (p.Asp1420=) c.5589C= (p.Asp1863=) c.3792C= (p.Asp1264=) | |
| 6 | g.7582851C>G | CA362688962 | DSP | c.4260C>G (p.Asp1420Glu) c.5589C>G (p.Asp1863Glu) c.3792C>G (p.Asp1264Glu) | |
| 6 | g.7582851C>T | CA045267 | DSP | c.4260C>T (p.Asp1420=) c.5589C>T (p.Asp1863=) c.3792C>T (p.Asp1264=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7582852del | CA2677234826 | DSP | c.4261del (p.Leu1421Ter) c.5590del (p.Leu1864Ter) c.3793del (p.Leu1265Ter) | gnomAD v4 |
| 6 | g.7582852C>A | CA362688963 | DSP | c.4261C>A (p.Leu1421Met) c.5590C>A (p.Leu1864Met) c.3793C>A (p.Leu1265Met) | ClinVar |
| 6 | g.7582852C>G | CA362688964 | DSP | c.4261C>G (p.Leu1421Val) c.5590C>G (p.Leu1864Val) c.3793C>G (p.Leu1265Val) | |
| 6 | g.7582852C>T | CA448715376 | DSP | c.4261C>T (p.Leu1421=) c.5590C>T (p.Leu1864=) c.3793C>T (p.Leu1265=) | gnomAD v4 |
| 6 | g.7582853T>A | CA362688965 | DSP | c.4262T>A (p.Leu1421Gln) c.5591T>A (p.Leu1864Gln) c.3794T>A (p.Leu1265Gln) | |
| 6 | g.7582853T>C | CA362688966 | DSP | c.4262T>C (p.Leu1421Pro) c.5591T>C (p.Leu1864Pro) c.3794T>C (p.Leu1265Pro) | |
| 6 | g.7582853T>G | CA362688967 | DSP | c.4262T>G (p.Leu1421Arg) c.5591T>G (p.Leu1864Arg) c.3794T>G (p.Leu1265Arg) | |
| 6 | g.7582854G>A | CA448715377 | DSP | c.4263G>A (p.Leu1421=) c.5592G>A (p.Leu1864=) c.3795G>A (p.Leu1265=) | |
| 6 | g.7582854G>C | CA448715378 | DSP | c.4263G>C (p.Leu1421=) c.5592G>C (p.Leu1864=) c.3795G>C (p.Leu1265=) | |
| 6 | g.7582854G>T | CA448715379 | DSP | c.4263G>T (p.Leu1421=) c.5592G>T (p.Leu1864=) c.3795G>T (p.Leu1265=) | |
| 6 | g.7582854dup | CA2695205953 | DSP | c.4263dup (p.Asn1422GlufsTer15) c.5592dup (p.Asn1865GlufsTer15) c.3795dup (p.Asn1266GlufsTer15) | |
| 6 | g.7582855A= | CA1608623722 | DSP | c.4264A= (p.Asn1422=) c.5593A= (p.Asn1865=) c.3796A= (p.Asn1266=) | |
| 6 | g.7582855A>C | CA362688968 | DSP | c.4264A>C (p.Asn1422His) c.5593A>C (p.Asn1865His) c.3796A>C (p.Asn1266His) | |
| 6 | g.7582855A>G | CA362688969 | DSP | c.4264A>G (p.Asn1422Asp) c.5593A>G (p.Asn1865Asp) c.3796A>G (p.Asn1266Asp) | |
| 6 | g.7582855A>T | CA045279 | DSP | c.4264A>T (p.Asn1422Tyr) c.5593A>T (p.Asn1865Tyr) c.3796A>T (p.Asn1266Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7582856A= | CA1608623727 | DSP | c.4265A= (p.Asn1422=) c.5594A= (p.Asn1865=) c.3797A= (p.Asn1266=) | |
| 6 | g.7582856A>C | CA362688970 | DSP | c.4265A>C (p.Asn1422Thr) c.5594A>C (p.Asn1865Thr) c.3797A>C (p.Asn1266Thr) | |
| 6 | g.7582856A>G | CA045299 | DSP | c.4265A>G (p.Asn1422Ser) c.5594A>G (p.Asn1865Ser) c.3797A>G (p.Asn1266Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7582856A>T | CA362688971 | DSP | c.4265A>T (p.Asn1422Ile) c.5594A>T (p.Asn1865Ile) c.3797A>T (p.Asn1266Ile) | gnomAD v4 |
| 6 | g.7582857T>A | CA362688972 | DSP | c.4266T>A (p.Asn1422Lys) c.5595T>A (p.Asn1865Lys) c.3798T>A (p.Asn1266Lys) | |
| 6 | g.7582857T>C | CA448715381 | DSP | c.4266T>C (p.Asn1422=) c.5595T>C (p.Asn1865=) c.3798T>C (p.Asn1266=) | |
| 6 | g.7582857T>G | CA362688973 | DSP | c.4266T>G (p.Asn1422Lys) c.5595T>G (p.Asn1865Lys) c.3798T>G (p.Asn1266Lys) | |
| 6 | g.7582858C>A | CA362688976 | DSP | c.4267C>A (p.Gln1423Lys) c.5596C>A (p.Gln1866Lys) c.3799C>A (p.Gln1267Lys) | |
| 6 | g.7582858C= | CA1608623733 | DSP | c.4267C= (p.Gln1423=) c.5596C= (p.Gln1866=) c.3799C= (p.Gln1267=) | |
| 6 | g.7582858C>G | CA362688974 | DSP | c.4267C>G (p.Gln1423Glu) c.5596C>G (p.Gln1866Glu) c.3799C>G (p.Gln1267Glu) | |
| 6 | g.7582858C>T | CA362688975 | DSP | c.4267C>T (p.Gln1423Ter) c.5596C>T (p.Gln1866Ter) c.3799C>T (p.Gln1267Ter) | dbSNP gnomAD v4 COSMIC |
| 6 | g.7582859A= | CA1608623741 | DSP | c.4268A= (p.Gln1423=) c.5597A= (p.Gln1866=) c.3800A= (p.Gln1267=) | |
| 6 | g.7582859A>C | CA362688977 | DSP | c.4268A>C (p.Gln1423Pro) c.5597A>C (p.Gln1866Pro) c.3800A>C (p.Gln1267Pro) | |
| 6 | g.7582859A>G | CA362688978 | DSP | c.4268A>G (p.Gln1423Arg) c.5597A>G (p.Gln1866Arg) c.3800A>G (p.Gln1267Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7582859A>T | CA362688979 | DSP | c.4268A>T (p.Gln1423Leu) c.5597A>T (p.Gln1866Leu) c.3800A>T (p.Gln1267Leu) | |
| 6 | g.7582860G>A | CA448715383 | DSP | c.4269G>A (p.Gln1423=) c.5598G>A (p.Gln1866=) c.3801G>A (p.Gln1267=) | ClinVar |
| 6 | g.7582860G>C | CA045312 | DSP | c.4269G>C (p.Gln1423His) c.5598G>C (p.Gln1866His) c.3801G>C (p.Gln1267His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7582860G= | CA1608623749 | DSP | c.4269G= (p.Gln1423=) c.5598G= (p.Gln1866=) c.3801G= (p.Gln1267=) | |
| 6 | g.7582860G>T | CA362688980 | DSP | c.4269G>T (p.Gln1423His) c.5598G>T (p.Gln1866His) c.3801G>T (p.Gln1267His) | |
| 6 | g.7582861T>A | CA362688981 | DSP | c.4270T>A (p.Trp1424Arg) c.5599T>A (p.Trp1867Arg) c.3802T>A (p.Trp1268Arg) | |
| 6 | g.7582861T>C | CA362688982 | DSP | c.4270T>C (p.Trp1424Arg) c.5599T>C (p.Trp1867Arg) c.3802T>C (p.Trp1268Arg) | |
| 6 | g.7582861T>G | CA362688983 | DSP | c.4270T>G (p.Trp1424Gly) c.5599T>G (p.Trp1867Gly) c.3802T>G (p.Trp1268Gly) | |
| 6 | g.7582862G>A | CA362688984 | DSP | c.4271G>A (p.Trp1424Ter) c.5600G>A (p.Trp1867Ter) c.3803G>A (p.Trp1268Ter) | |
| 6 | g.7582862G>C | CA362688985 | DSP | c.4271G>C (p.Trp1424Ser) c.5600G>C (p.Trp1867Ser) c.3803G>C (p.Trp1268Ser) | |
| 6 | g.7582862G>T | CA362688986 | DSP | c.4271G>T (p.Trp1424Leu) c.5600G>T (p.Trp1867Leu) c.3803G>T (p.Trp1268Leu) | |
| 6 | g.7582863G>A | CA362688988 | DSP | c.4272G>A (p.Trp1424Ter) c.5601G>A (p.Trp1867Ter) c.3804G>A (p.Trp1268Ter) | COSMIC |
| 6 | g.7582863G>C | CA362688989 | DSP | c.4272G>C (p.Trp1424Cys) c.5601G>C (p.Trp1867Cys) c.3804G>C (p.Trp1268Cys) | |
| 6 | g.7582863G>T | CA362688987 | DSP | c.4272G>T (p.Trp1424Cys) c.5601G>T (p.Trp1867Cys) c.3804G>T (p.Trp1268Cys) | |
| 6 | g.7582864A>C | CA362688990 | DSP | c.4273A>C (p.Lys1425Gln) c.5602A>C (p.Lys1868Gln) c.3805A>C (p.Lys1269Gln) | |
| 6 | g.7582864A>G | CA362688991 | DSP | c.4273A>G (p.Lys1425Glu) c.5602A>G (p.Lys1868Glu) c.3805A>G (p.Lys1269Glu) | |
| 6 | g.7582864A>T | CA362688992 | DSP | c.4273A>T (p.Lys1425Ter) c.5602A>T (p.Lys1868Ter) c.3805A>T (p.Lys1269Ter) | |
| 6 | g.7582865A>C | CA362688993 | DSP | c.4274A>C (p.Lys1425Thr) c.5603A>C (p.Lys1868Thr) c.3806A>C (p.Lys1269Thr) | |
| 6 | g.7582865A>G | CA362688994 | DSP | c.4274A>G (p.Lys1425Arg) c.5603A>G (p.Lys1868Arg) c.3806A>G (p.Lys1269Arg) | |
| 6 | g.7582865A>T | CA362688995 | DSP | c.4274A>T (p.Lys1425Met) c.5603A>T (p.Lys1868Met) c.3806A>T (p.Lys1269Met) | |
| 6 | g.7582866G>A | CA448715387 | DSP | c.4275G>A (p.Lys1425=) c.5604G>A (p.Lys1868=) c.3807G>A (p.Lys1269=) | gnomAD v4 |
| 6 | g.7582866G>C | CA362688997 | DSP | c.4275G>C (p.Lys1425Asn) c.5604G>C (p.Lys1868Asn) c.3807G>C (p.Lys1269Asn) | |
| 6 | g.7582866G>T | CA362688996 | DSP | c.4275G>T (p.Lys1425Asn) c.5604G>T (p.Lys1868Asn) c.3807G>T (p.Lys1269Asn) | |
| 6 | g.7582867A>C | CA362688998 | DSP | c.4276A>C (p.Thr1426Pro) c.5605A>C (p.Thr1869Pro) c.3808A>C (p.Thr1270Pro) | |
| 6 | g.7582867A>G | CA362688999 | DSP | c.4276A>G (p.Thr1426Ala) c.5605A>G (p.Thr1869Ala) c.3808A>G (p.Thr1270Ala) | |
| 6 | g.7582867A>T | CA362689000 | DSP | c.4276A>T (p.Thr1426Ser) c.5605A>T (p.Thr1869Ser) c.3808A>T (p.Thr1270Ser) | gnomAD v4 |
| 6 | g.7582868C>A | CA362689001 | DSP | c.4277C>A (p.Thr1426Asn) c.5606C>A (p.Thr1869Asn) c.3809C>A (p.Thr1270Asn) | |
| 6 | g.7582868C>G | CA362689002 | DSP | c.4277C>G (p.Thr1426Ser) c.5606C>G (p.Thr1869Ser) c.3809C>G (p.Thr1270Ser) | |
| 6 | g.7582868C>T | CA362689003 | DSP | c.4277C>T (p.Thr1426Ile) c.5606C>T (p.Thr1869Ile) c.3809C>T (p.Thr1270Ile) | |
| 6 | g.7582869T>A | CA448715391 | DSP | c.4278T>A (p.Thr1426=) c.5607T>A (p.Thr1869=) c.3810T>A (p.Thr1270=) | |
| 6 | g.7582869T>C | CA448715389 | DSP | c.4278T>C (p.Thr1426=) c.5607T>C (p.Thr1869=) c.3810T>C (p.Thr1270=) | |
| 6 | g.7582869T>G | CA448715390 | DSP | c.4278T>G (p.Thr1426=) c.5607T>G (p.Thr1869=) c.3810T>G (p.Thr1270=) | dbSNP |
| 6 | g.7582869T= | CA1608623788 | DSP | c.4278T= (p.Thr1426=) c.5607T= (p.Thr1869=) c.3810T= (p.Thr1270=) | |
| 6 | g.7582870C>A | CA362689004 | DSP | c.4279C>A (p.Gln1427Lys) c.5608C>A (p.Gln1870Lys) c.3811C>A (p.Gln1271Lys) | |
| 6 | g.7582870C>G | CA362689006 | DSP | c.4279C>G (p.Gln1427Glu) c.5608C>G (p.Gln1870Glu) c.3811C>G (p.Gln1271Glu) | |
| 6 | g.7582870C>T | CA362689005 | DSP | c.4279C>T (p.Gln1427Ter) c.5608C>T (p.Gln1870Ter) c.3811C>T (p.Gln1271Ter) | |
| 6 | g.7582871A= | CA1608623797 | DSP | c.4280A= (p.Gln1427=) c.5609A= (p.Gln1870=) c.3812A= (p.Gln1271=) | |
| 6 | g.7582871A>C | CA362689007 | DSP | c.4280A>C (p.Gln1427Pro) c.5609A>C (p.Gln1870Pro) c.3812A>C (p.Gln1271Pro) | |
| 6 | g.7582871A>G | CA045335 | DSP | c.4280A>G (p.Gln1427Arg) c.5609A>G (p.Gln1870Arg) c.3812A>G (p.Gln1271Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7582871A>T | CA362689008 | DSP | c.4280A>T (p.Gln1427Leu) c.5609A>T (p.Gln1870Leu) c.3812A>T (p.Gln1271Leu) | |
| 6 | g.7582872A= | CA1608623809 | DSP | c.4281A= (p.Gln1427=) c.5610A= (p.Gln1870=) c.3813A= (p.Gln1271=) | |
| 6 | g.7582872A>C | CA362689009 | DSP | c.4281A>C (p.Gln1427His) c.5610A>C (p.Gln1870His) c.3813A>C (p.Gln1271His) | |
| 6 | g.7582872A>G | CA045349 | DSP | c.4281A>G (p.Gln1427=) c.5610A>G (p.Gln1870=) c.3813A>G (p.Gln1271=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7582872A>T | CA362689010 | DSP | c.4281A>T (p.Gln1427His) c.5610A>T (p.Gln1870His) c.3813A>T (p.Gln1271His) | |
| 6 | g.7582873T>A | CA362689011 | DSP | c.4282T>A (p.Tyr1428Asn) c.5611T>A (p.Tyr1871Asn) c.3814T>A (p.Tyr1272Asn) | |
| 6 | g.7582873T>C | CA362689012 | DSP | c.4282T>C (p.Tyr1428His) c.5611T>C (p.Tyr1871His) c.3814T>C (p.Tyr1272His) | gnomAD v4 |
| 6 | g.7582873T>G | CA045361 | DSP | c.4282T>G (p.Tyr1428Asp) c.5611T>G (p.Tyr1871Asp) c.3814T>G (p.Tyr1272Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7582873T= | CA1608623811 | DSP | c.4282T= (p.Tyr1428=) c.5611T= (p.Tyr1871=) c.3814T= (p.Tyr1272=) | |
| 6 | g.7582874A>C | CA362689013 | DSP | c.4283A>C (p.Tyr1428Ser) c.5612A>C (p.Tyr1871Ser) c.3815A>C (p.Tyr1272Ser) | |
| 6 | g.7582874A>G | CA362689014 | DSP | c.4283A>G (p.Tyr1428Cys) c.5612A>G (p.Tyr1871Cys) c.3815A>G (p.Tyr1272Cys) | |
| 6 | g.7582874A>T | CA362689015 | DSP | c.4283A>T (p.Tyr1428Phe) c.5612A>T (p.Tyr1871Phe) c.3815A>T (p.Tyr1272Phe) | |
| 6 | g.7582875T>A | CA362689017 | DSP | c.4284T>A (p.Tyr1428Ter) c.5613T>A (p.Tyr1871Ter) c.3816T>A (p.Tyr1272Ter) | |
| 6 | g.7582875T>C | CA448715395 | DSP | c.4284T>C (p.Tyr1428=) c.5613T>C (p.Tyr1871=) c.3816T>C (p.Tyr1272=) | |
| 6 | g.7582875T>G | CA362689016 | DSP | c.4284T>G (p.Tyr1428Ter) c.5613T>G (p.Tyr1871Ter) c.3816T>G (p.Tyr1272Ter) | gnomAD v4 |
| 6 | g.7582876T>A | CA362689018 | DSP | c.4285T>A (p.Ser1429Thr) c.5614T>A (p.Ser1872Thr) c.3817T>A (p.Ser1273Thr) | |
| 6 | g.7582876T>C | CA362689020 | DSP | c.4285T>C (p.Ser1429Pro) c.5614T>C (p.Ser1872Pro) c.3817T>C (p.Ser1273Pro) | |
| 6 | g.7582876T>G | CA362689019 | DSP | c.4285T>G (p.Ser1429Ala) c.5614T>G (p.Ser1872Ala) c.3817T>G (p.Ser1273Ala) | |
| 6 | g.7582877C>A | CA362689021 | DSP | c.4286C>A (p.Ser1429Tyr) c.5615C>A (p.Ser1872Tyr) c.3818C>A (p.Ser1273Tyr) | |
| 6 | g.7582877C>G | CA362689023 | DSP | c.4286C>G (p.Ser1429Cys) c.5615C>G (p.Ser1872Cys) c.3818C>G (p.Ser1273Cys) | |
| 6 | g.7582877C>T | CA362689022 | DSP | c.4286C>T (p.Ser1429Phe) c.5615C>T (p.Ser1872Phe) c.3818C>T (p.Ser1273Phe) | gnomAD v4 COSMIC |
| 6 | g.7582878C>A | CA448715398 | DSP | c.4287C>A (p.Ser1429=) c.5616C>A (p.Ser1872=) c.3819C>A (p.Ser1273=) | |
| 6 | g.7582878C>G | CA448715399 | DSP | c.4287C>G (p.Ser1429=) c.5616C>G (p.Ser1872=) c.3819C>G (p.Ser1273=) | |
| 6 | g.7582878C>T | CA448715400 | DSP | c.4287C>T (p.Ser1429=) c.5616C>T (p.Ser1872=) c.3819C>T (p.Ser1273=) | gnomAD v4 COSMIC |
| 6 | g.7582879C>A | CA362689024 | DSP | c.4288C>A (p.Arg1430Ser) c.5617C>A (p.Arg1873Ser) c.3820C>A (p.Arg1274Ser) | gnomAD v4 |
| 6 | g.7582879C= | CA1608623817 | DSP | c.4288C= (p.Arg1430=) c.5617C= (p.Arg1873=) c.3820C= (p.Arg1274=) | |
| 6 | g.7582879C>G | CA362689025 | DSP | c.4288C>G (p.Arg1430Gly) c.5617C>G (p.Arg1873Gly) c.3820C>G (p.Arg1274Gly) | |
| 6 | g.7582879C>T | CA045373 | DSP | c.4288C>T (p.Arg1430Cys) c.5617C>T (p.Arg1873Cys) c.3820C>T (p.Arg1274Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7582880G>A | CA045390 | DSP | c.4289G>A (p.Arg1430His) c.5618G>A (p.Arg1873His) c.3821G>A (p.Arg1274His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7582880G>C | CA362689026 | DSP | c.4289G>C (p.Arg1430Pro) c.5618G>C (p.Arg1873Pro) c.3821G>C (p.Arg1274Pro) | |
| 6 | g.7582880G= | CA1608623831 | DSP | c.4289G= (p.Arg1430=) c.5618G= (p.Arg1873=) c.3821G= (p.Arg1274=) | |
| 6 | g.7582880G>T | CA006563 | DSP | c.4289G>T (p.Arg1430Leu) c.5618G>T (p.Arg1873Leu) c.3821G>T (p.Arg1274Leu) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7582881C>A | CA448715404 | DSP | c.4290C>A (p.Arg1430=) c.5619C>A (p.Arg1873=) c.3822C>A (p.Arg1274=) | |
| 6 | g.7582881C>G | CA448715405 | DSP | c.4290C>G (p.Arg1430=) c.5619C>G (p.Arg1873=) c.3822C>G (p.Arg1274=) | gnomAD v4 |
| 6 | g.7582881C>T | CA448715406 | DSP | c.4290C>T (p.Arg1430=) c.5619C>T (p.Arg1873=) c.3822C>T (p.Arg1274=) | |
| 6 | g.7582882A= | CA1608623839 | DSP | c.4291A= (p.Lys1431=) c.5620A= (p.Lys1874=) c.3823A= (p.Lys1275=) | |
| 6 | g.7582882A>C | CA362689027 | DSP | c.4291A>C (p.Lys1431Gln) c.5620A>C (p.Lys1874Gln) c.3823A>C (p.Lys1275Gln) | |
| 6 | g.7582882A>G | CA133972087 | DSP | c.4291A>G (p.Lys1431Glu) c.5620A>G (p.Lys1874Glu) c.3823A>G (p.Lys1275Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7582882A>T | CA362689028 | DSP | c.4291A>T (p.Lys1431Ter) c.5620A>T (p.Lys1874Ter) c.3823A>T (p.Lys1275Ter) | |
| 6 | g.7582883A>C | CA362689029 | DSP | c.4292A>C (p.Lys1431Thr) c.5621A>C (p.Lys1874Thr) c.3824A>C (p.Lys1275Thr) | COSMIC |
| 6 | g.7582883A>G | CA362689030 | DSP | c.4292A>G (p.Lys1431Arg) c.5621A>G (p.Lys1874Arg) c.3824A>G (p.Lys1275Arg) | |
| 6 | g.7582883A>T | CA362689031 | DSP | c.4292A>T (p.Lys1431Met) c.5621A>T (p.Lys1874Met) c.3824A>T (p.Lys1275Met) | |
| 6 | g.7582884G>A | CA448715408 | DSP | c.4293G>A (p.Lys1431=) c.5622G>A (p.Lys1874=) c.3825G>A (p.Lys1275=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7582884G>C | CA362689033 | DSP | c.4293G>C (p.Lys1431Asn) c.5622G>C (p.Lys1874Asn) c.3825G>C (p.Lys1275Asn) | |
| 6 | g.7582884G= | CA1608623844 | DSP | c.4293G= (p.Lys1431=) c.5622G= (p.Lys1874=) c.3825G= (p.Lys1275=) | |
| 6 | g.7582884G>T | CA362689032 | DSP | c.4293G>T (p.Lys1431Asn) c.5622G>T (p.Lys1874Asn) c.3825G>T (p.Lys1275Asn) | |
| 6 | g.7582885del | CA2677234904 | DSP | c.4294del (p.Glu1432ArgfsTer7) c.5623del (p.Glu1875ArgfsTer7) c.3826del (p.Glu1276ArgfsTer7) | gnomAD v4 |
| 6 | g.7582885G>A | CA362689034 | DSP | c.4294G>A (p.Glu1432Lys) c.5623G>A (p.Glu1875Lys) c.3826G>A (p.Glu1276Lys) | gnomAD v4 |
| 6 | g.7582885G>C | CA362689035 | DSP | c.4294G>C (p.Glu1432Gln) c.5623G>C (p.Glu1875Gln) c.3826G>C (p.Glu1276Gln) | |
| 6 | g.7582885G>T | CA362689036 | DSP | c.4294G>T (p.Glu1432Ter) c.5623G>T (p.Glu1875Ter) c.3826G>T (p.Glu1276Ter) | |
| 6 | g.7582886A>C | CA362689037 | DSP | c.4295A>C (p.Glu1432Ala) c.5624A>C (p.Glu1875Ala) c.3827A>C (p.Glu1276Ala) | |
| 6 | g.7582886A>G | CA362689038 | DSP | c.4295A>G (p.Glu1432Gly) c.5624A>G (p.Glu1875Gly) c.3827A>G (p.Glu1276Gly) | |
| 6 | g.7582886A>T | CA362689039 | DSP | c.4295A>T (p.Glu1432Val) c.5624A>T (p.Glu1875Val) c.3827A>T (p.Glu1276Val) | |
| 6 | g.7582887G>A | CA448715412 | DSP | c.4296G>A (p.Glu1432=) c.5625G>A (p.Glu1875=) c.3828G>A (p.Glu1276=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7582887G>C | CA362689040 | DSP | c.4296G>C (p.Glu1432Asp) c.5625G>C (p.Glu1875Asp) c.3828G>C (p.Glu1276Asp) | |
| 6 | g.7582887G= | CA1608623846 | DSP | c.4296G= (p.Glu1432=) c.5625G= (p.Glu1875=) c.3828G= (p.Glu1276=) | |
| 6 | g.7582887G>T | CA362689041 | DSP | c.4296G>T (p.Glu1432Asp) c.5625G>T (p.Glu1875Asp) c.3828G>T (p.Glu1276Asp) | gnomAD v4 |
| 6 | g.7582888G>A | CA362689042 | DSP | c.4297G>A (p.Glu1433Lys) c.5626G>A (p.Glu1876Lys) c.3829G>A (p.Glu1277Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7582888G>C | CA362689043 | DSP | c.4297G>C (p.Glu1433Gln) c.5626G>C (p.Glu1876Gln) c.3829G>C (p.Glu1277Gln) | |
| 6 | g.7582888G= | CA1608623852 | DSP | c.4297G= (p.Glu1433=) c.5626G= (p.Glu1876=) c.3829G= (p.Glu1277=) | |
| 6 | g.7582888G>T | CA362689044 | DSP | c.4297G>T (p.Glu1433Ter) c.5626G>T (p.Glu1876Ter) c.3829G>T (p.Glu1277Ter) | |
| 6 | g.7582889A>C | CA362689047 | DSP | c.4298A>C (p.Glu1433Ala) c.5627A>C (p.Glu1876Ala) c.3830A>C (p.Glu1277Ala) | |
| 6 | g.7582889A>G | CA362689046 | DSP | c.4298A>G (p.Glu1433Gly) c.5627A>G (p.Glu1876Gly) c.3830A>G (p.Glu1277Gly) | |
| 6 | g.7582889A>T | CA362689045 | DSP | c.4298A>T (p.Glu1433Val) c.5627A>T (p.Glu1876Val) c.3830A>T (p.Glu1277Val) | |
| 6 | g.7582890G>A | CA448715416 | DSP | c.4299G>A (p.Glu1433=) c.5628G>A (p.Glu1876=) c.3831G>A (p.Glu1277=) | dbSNP gnomAD v4 |
| 6 | g.7582890G>C | CA362689048 | DSP | c.4299G>C (p.Glu1433Asp) c.5628G>C (p.Glu1876Asp) c.3831G>C (p.Glu1277Asp) | gnomAD v4 |
| 6 | g.7582890G= | CA1608623855 | DSP | c.4299G= (p.Glu1433=) c.5628G= (p.Glu1876=) c.3831G= (p.Glu1277=) | |
| 6 | g.7582890G>T | CA362689049 | DSP | c.4299G>T (p.Glu1433Asp) c.5628G>T (p.Glu1876Asp) c.3831G>T (p.Glu1277Asp) | |
| 6 | g.7582891G>A | CA362689050 | DSP | c.4300G>A (p.Ala1434Thr) c.5629G>A (p.Ala1877Thr) c.3832G>A (p.Ala1278Thr) | ClinVar gnomAD v4 |
| 6 | g.7582891G>C | CA362689051 | DSP | c.4300G>C (p.Ala1434Pro) c.5629G>C (p.Ala1877Pro) c.3832G>C (p.Ala1278Pro) | |
| 6 | g.7582891G>T | CA362689052 | DSP | c.4300G>T (p.Ala1434Ser) c.5629G>T (p.Ala1877Ser) c.3832G>T (p.Ala1278Ser) | |
| 6 | g.7582892C>A | CA362689053 | DSP | c.4301C>A (p.Ala1434Asp) c.5630C>A (p.Ala1877Asp) c.3833C>A (p.Ala1278Asp) | |
| 6 | g.7582892C>G | CA362689054 | DSP | c.4301C>G (p.Ala1434Gly) c.5630C>G (p.Ala1877Gly) c.3833C>G (p.Ala1278Gly) | |
| 6 | g.7582892C>T | CA362689055 | DSP | c.4301C>T (p.Ala1434Val) c.5630C>T (p.Ala1877Val) c.3833C>T (p.Ala1278Val) | gnomAD v4 |
| 6 | g.7582893T>A | CA448715422 | DSP | c.4302T>A (p.Ala1434=) c.5631T>A (p.Ala1877=) c.3834T>A (p.Ala1278=) | |
| 6 | g.7582893T>C | CA448715420 | DSP | c.4302T>C (p.Ala1434=) c.5631T>C (p.Ala1877=) c.3834T>C (p.Ala1278=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7582893T>G | CA448715421 | DSP | c.4302T>G (p.Ala1434=) c.5631T>G (p.Ala1877=) c.3834T>G (p.Ala1278=) | |
| 6 | g.7582893T= | CA1608623859 | DSP | c.4302T= (p.Ala1434=) c.5631T= (p.Ala1877=) c.3834T= (p.Ala1278=) | |
| 6 | g.7582894A>C | CA362689056 | DSP | c.4303A>C (p.Ile1435Leu) c.5632A>C (p.Ile1878Leu) c.3835A>C (p.Ile1279Leu) | |
| 6 | g.7582894A>G | CA362689057 | DSP | c.4303A>G (p.Ile1435Val) c.5632A>G (p.Ile1878Val) c.3835A>G (p.Ile1279Val) | |
| 6 | g.7582894A>T | CA362689058 | DSP | c.4303A>T (p.Ile1435Phe) c.5632A>T (p.Ile1878Phe) c.3835A>T (p.Ile1279Phe) | |
| 6 | g.7582895T>A | CA362689059 | DSP | c.4304T>A (p.Ile1435Asn) c.5633T>A (p.Ile1878Asn) c.3836T>A (p.Ile1279Asn) | |
| 6 | g.7582895T>C | CA362689060 | DSP | c.4304T>C (p.Ile1435Thr) c.5633T>C (p.Ile1878Thr) c.3836T>C (p.Ile1279Thr) | ClinVar dbSNP |
| 6 | g.7582895T>G | CA362689061 | DSP | c.4304T>G (p.Ile1435Ser) c.5633T>G (p.Ile1878Ser) c.3836T>G (p.Ile1279Ser) | |
| 6 | g.7582895T= | CA1608623866 | DSP | c.4304T= (p.Ile1435=) c.5633T= (p.Ile1878=) c.3836T= (p.Ile1279=) | |
| 6 | g.7582896T>A | CA448715424 | DSP | c.4305T>A (p.Ile1435=) c.5634T>A (p.Ile1878=) c.3837T>A (p.Ile1279=) | |
| 6 | g.7582896T>C | CA448715425 | DSP | c.4305T>C (p.Ile1435=) c.5634T>C (p.Ile1878=) c.3837T>C (p.Ile1279=) | |
| 6 | g.7582896T>G | CA362689062 | DSP | c.4305T>G (p.Ile1435Met) c.5634T>G (p.Ile1878Met) c.3837T>G (p.Ile1279Met) | gnomAD v4 |
| 6 | g.7582897A= | CA1608623889 | DSP | c.4306A= (p.Arg1436=) c.5635A= (p.Arg1879=) c.3838A= (p.Arg1280=) | |
| 6 | g.7582897A>C | CA448715426 | DSP | c.4306A>C (p.Arg1436=) c.5635A>C (p.Arg1879=) c.3838A>C (p.Arg1280=) | |
| 6 | g.7582897A>G | CA362689063 | DSP | c.4306A>G (p.Arg1436Gly) c.5635A>G (p.Arg1879Gly) c.3838A>G (p.Arg1280Gly) | ClinVar dbSNP |
| 6 | g.7582897A>T | CA362689064 | DSP | c.4306A>T (p.Arg1436Trp) c.5635A>T (p.Arg1879Trp) c.3838A>T (p.Arg1280Trp) | |
| 6 | g.7582898G>A | CA362689065 | DSP | c.4307G>A (p.Arg1436Lys) c.5636G>A (p.Arg1879Lys) c.3839G>A (p.Arg1280Lys) | |
| 6 | g.7582898G>C | CA362689066 | DSP | c.4307G>C (p.Arg1436Thr) c.5636G>C (p.Arg1879Thr) c.3839G>C (p.Arg1280Thr) | |
| 6 | g.7582898G>T | CA362689067 | DSP | c.4307G>T (p.Arg1436Met) c.5636G>T (p.Arg1879Met) c.3839G>T (p.Arg1280Met) | |
| 6 | g.7582899G>A | CA448715429 | DSP | c.4308G>A (p.Arg1436=) c.5637G>A (p.Arg1879=) c.3840G>A (p.Arg1280=) | |
| 6 | g.7582899G>C | CA362689068 | DSP | c.4308G>C (p.Arg1436Ser) c.5637G>C (p.Arg1879Ser) c.3840G>C (p.Arg1280Ser) | |
| 6 | g.7582899G>T | CA362689069 | DSP | c.4308G>T (p.Arg1436Ser) c.5637G>T (p.Arg1879Ser) c.3840G>T (p.Arg1280Ser) | |
| 6 | g.7582900A>C | CA362689070 | DSP | c.4309A>C (p.Lys1437Gln) c.5638A>C (p.Lys1880Gln) c.3841A>C (p.Lys1281Gln) | ClinVar |
| 6 | g.7582900A>G | CA362689071 | DSP | c.4309A>G (p.Lys1437Glu) c.5638A>G (p.Lys1880Glu) c.3841A>G (p.Lys1281Glu) | |
| 6 | g.7582900A>T | CA362689072 | DSP | c.4309A>T (p.Lys1437Ter) c.5638A>T (p.Lys1880Ter) c.3841A>T (p.Lys1281Ter) | |
| 6 | g.7582901A= | CA1608623893 | DSP | c.4310A= (p.Lys1437=) c.5639A= (p.Lys1880=) c.3842A= (p.Lys1281=) | |
| 6 | g.7582901A>C | CA362689073 | DSP | c.4310A>C (p.Lys1437Thr) c.5639A>C (p.Lys1880Thr) c.3842A>C (p.Lys1281Thr) | |
| 6 | g.7582901A>G | CA362689074 | DSP | c.4310A>G (p.Lys1437Arg) c.5639A>G (p.Lys1880Arg) c.3842A>G (p.Lys1281Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7582901A>T | CA362689075 | DSP | c.4310A>T (p.Lys1437Met) c.5639A>T (p.Lys1880Met) c.3842A>T (p.Lys1281Met) | |
| 6 | g.7582902G>A | CA448715433 | DSP | c.4311G>A (p.Lys1437=) c.5640G>A (p.Lys1880=) c.3843G>A (p.Lys1281=) | |
| 6 | g.7582902G>C | CA362689077 | DSP | c.4311G>C (p.Lys1437Asn) c.5640G>C (p.Lys1880Asn) c.3843G>C (p.Lys1281Asn) | |
| 6 | g.7582902G>T | CA362689076 | DSP | c.4311G>T (p.Lys1437Asn) c.5640G>T (p.Lys1880Asn) c.3843G>T (p.Lys1281Asn) | |
| 6 | g.7582903A>C | CA362689078 | DSP | c.4312A>C (p.Ile1438Leu) c.5641A>C (p.Ile1881Leu) c.3844A>C (p.Ile1282Leu) | |
| 6 | g.7582903A>G | CA362689080 | DSP | c.4312A>G (p.Ile1438Val) c.5641A>G (p.Ile1881Val) c.3844A>G (p.Ile1282Val) | |
| 6 | g.7582903A>T | CA362689079 | DSP | c.4312A>T (p.Ile1438Leu) c.5641A>T (p.Ile1881Leu) c.3844A>T (p.Ile1282Leu) | |
| 6 | g.7582904T>A | CA362689081 | DSP | c.4313T>A (p.Ile1438Lys) c.5642T>A (p.Ile1881Lys) c.3845T>A (p.Ile1282Lys) | |
| 6 | g.7582904T>C | CA362689082 | DSP | c.4313T>C (p.Ile1438Thr) c.5642T>C (p.Ile1881Thr) c.3845T>C (p.Ile1282Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7582904T>G | CA362689083 | DSP | c.4313T>G (p.Ile1438Arg) c.5642T>G (p.Ile1881Arg) c.3845T>G (p.Ile1282Arg) | |
| 6 | g.7582904T= | CA1608623899 | DSP | c.4313T= (p.Ile1438=) c.5642T= (p.Ile1881=) c.3845T= (p.Ile1282=) | |
| 6 | g.7582905A>C | CA448715437 | DSP | c.4314A>C (p.Ile1438=) c.5643A>C (p.Ile1881=) c.3846A>C (p.Ile1282=) | |
| 6 | g.7582905A>G | CA362689084 | DSP | c.4314A>G (p.Ile1438Met) c.5643A>G (p.Ile1881Met) c.3846A>G (p.Ile1282Met) | |
| 6 | g.7582905A>T | CA448715438 | DSP | c.4314A>T (p.Ile1438=) c.5643A>T (p.Ile1881=) c.3846A>T (p.Ile1282=) | |
| 6 | g.7582906G>A | CA362689085 | DSP | c.4315G>A (p.Glu1439Lys) c.5644G>A (p.Glu1882Lys) c.3847G>A (p.Glu1283Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7582906G>C | CA362689086 | DSP | c.4315G>C (p.Glu1439Gln) c.5644G>C (p.Glu1882Gln) c.3847G>C (p.Glu1283Gln) | |
| 6 | g.7582906G= | CA1608606436 | DSP | c.4315G= (p.Glu1439=) c.5644G= (p.Glu1882=) c.3847G= (p.Glu1283=) | |
| 6 | g.7582906G>T | CA362689087 | DSP | c.4315G>T (p.Glu1439Ter) c.5644G>T (p.Glu1882Ter) c.3847G>T (p.Glu1283Ter) | |
| 6 | g.7582907A>C | CA362689088 | DSP | c.4316A>C (p.Glu1439Ala) c.5645A>C (p.Glu1882Ala) c.3848A>C (p.Glu1283Ala) | |
| 6 | g.7582907A>G | CA362689089 | DSP | c.4316A>G (p.Glu1439Gly) c.5645A>G (p.Glu1882Gly) c.3848A>G (p.Glu1283Gly) | |
| 6 | g.7582907A>T | CA362689090 | DSP | c.4316A>T (p.Glu1439Val) c.5645A>T (p.Glu1882Val) c.3848A>T (p.Glu1283Val) | |
| 6 | g.7582908dup | CA565358155 | DSP | c.4317dup (p.Ser1440IlefsTer7) c.5646dup (p.Ser1883IlefsTer7) c.3849dup (p.Ser1284IlefsTer7) | dbSNP gnomAD v2 |
| 6 | g.7582908A>C | CA362689091 | DSP | c.4317A>C (p.Glu1439Asp) c.5646A>C (p.Glu1882Asp) c.3849A>C (p.Glu1283Asp) | |
| 6 | g.7582908A>G | CA448715439 | DSP | c.4317A>G (p.Glu1439=) c.5646A>G (p.Glu1882=) c.3849A>G (p.Glu1283=) | |
| 6 | g.7582908A>T | CA362689092 | DSP | c.4317A>T (p.Glu1439Asp) c.5646A>T (p.Glu1882Asp) c.3849A>T (p.Glu1283Asp) | |
| 6 | g.7582909T>A | CA362689094 | DSP | c.4318T>A (p.Ser1440Thr) c.5647T>A (p.Ser1883Thr) c.3850T>A (p.Ser1284Thr) | |
| 6 | g.7582909T>C | CA133972088 | DSP | c.4318T>C (p.Ser1440Pro) c.5647T>C (p.Ser1883Pro) c.3850T>C (p.Ser1284Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7582909T>G | CA362689093 | DSP | c.4318T>G (p.Ser1440Ala) c.5647T>G (p.Ser1883Ala) c.3850T>G (p.Ser1284Ala) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7582909T= | CA1608606462 | DSP | c.4318T= (p.Ser1440=) c.5647T= (p.Ser1883=) c.3850T= (p.Ser1284=) | |
| 6 | g.7582910C>A | CA362689095 | DSP | c.4319C>A (p.Ser1440Ter) c.5648C>A (p.Ser1883Ter) c.3851C>A (p.Ser1284Ter) | ClinVar |
| 6 | g.7582910C= | CA1608606464 | DSP | c.4319C= (p.Ser1440=) c.5648C= (p.Ser1883=) c.3851C= (p.Ser1284=) | |
| 6 | g.7582910C>G | CA362689096 | DSP | c.4319C>G (p.Ser1440Trp) c.5648C>G (p.Ser1883Trp) c.3851C>G (p.Ser1284Trp) | dbSNP gnomAD v2 |
| 6 | g.7582910C>T | CA362689097 | DSP | c.4319C>T (p.Ser1440Leu) c.5648C>T (p.Ser1883Leu) c.3851C>T (p.Ser1284Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7582911G>A | CA045415 | DSP | c.4320G>A (p.Ser1440=) c.5649G>A (p.Ser1883=) c.3852G>A (p.Ser1284=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7582911G>C | CA448715440 | DSP | c.4320G>C (p.Ser1440=) c.5649G>C (p.Ser1883=) c.3852G>C (p.Ser1284=) | |
| 6 | g.7582911G= | CA1608606469 | DSP | c.4320G= (p.Ser1440=) c.5649G= (p.Ser1883=) c.3852G= (p.Ser1284=) | |
| 6 | g.7582911G>T | CA448715442 | DSP | c.4320G>T (p.Ser1440=) c.5649G>T (p.Ser1883=) c.3852G>T (p.Ser1284=) | ClinVar |
| 6 | g.7582912G>A | CA362689098 | DSP | c.4321G>A (p.Glu1441Lys) c.5650G>A (p.Glu1884Lys) c.3853G>A (p.Glu1285Lys) | gnomAD v4 COSMIC |
| 6 | g.7582912G>C | CA362689099 | DSP | c.4321G>C (p.Glu1441Gln) c.5650G>C (p.Glu1884Gln) c.3853G>C (p.Glu1285Gln) | |
| 6 | g.7582912G>T | CA362689100 | DSP | c.4321G>T (p.Glu1441Ter) c.5650G>T (p.Glu1884Ter) c.3853G>T (p.Glu1285Ter) | |
| 6 | g.7582913A= | CA1608606481 | DSP | c.4322A= (p.Glu1441=) c.5651A= (p.Glu1884=) c.3854A= (p.Glu1285=) | |
| 6 | g.7582913A>C | CA362689101 | DSP | c.4322A>C (p.Glu1441Ala) c.5651A>C (p.Glu1884Ala) c.3854A>C (p.Glu1285Ala) | |
| 6 | g.7582913A>G | CA362689102 | DSP | c.4322A>G (p.Glu1441Gly) c.5651A>G (p.Glu1884Gly) c.3854A>G (p.Glu1285Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7582913A>T | CA362689103 | DSP | c.4322A>T (p.Glu1441Val) c.5651A>T (p.Glu1884Val) c.3854A>T (p.Glu1285Val) | |
| 6 | g.7582914A>C | CA362689104 | DSP | c.4323A>C (p.Glu1441Asp) c.5652A>C (p.Glu1884Asp) c.3855A>C (p.Glu1285Asp) | |
| 6 | g.7582914A>G | CA448715443 | DSP | c.4323A>G (p.Glu1441=) c.5652A>G (p.Glu1884=) c.3855A>G (p.Glu1285=) | |
| 6 | g.7582914A>T | CA362689105 | DSP | c.4323A>T (p.Glu1441Asp) c.5652A>T (p.Glu1884Asp) c.3855A>T (p.Glu1285Asp) | |
| 6 | g.7582914_7582916delinsAAG | CA1608606489 | DSP | c.4323_4325delinsAAG (p.Glu1441=) c.5652_5654delinsAAG (p.Glu1884=) c.3855_3857delinsAAG (p.Glu1285=) | |
| 6 | g.7582915A>C | CA448715444 | DSP | c.4324A>C (p.Arg1442=) c.5653A>C (p.Arg1885=) c.3856A>C (p.Arg1286=) | |
| 6 | g.7582915A>G | CA362689107 | DSP | c.4324A>G (p.Arg1442Gly) c.5653A>G (p.Arg1885Gly) c.3856A>G (p.Arg1286Gly) | |
| 6 | g.7582915A>T | CA362689106 | DSP | c.4324A>T (p.Arg1442Ter) c.5653A>T (p.Arg1885Ter) c.3856A>T (p.Arg1286Ter) | |
| 6 | g.7582918_7582919del | CA1608606497 | DSP | c.4327_4328del (p.Glu1443LysfsTer3) c.5656_5657del (p.Glu1886LysfsTer3) c.3859_3860del (p.Glu1287LysfsTer3) | ClinVar dbSNP |
| 6 | g.7582916G>A | CA362689108 | DSP | c.4325G>A (p.Arg1442Lys) c.5654G>A (p.Arg1885Lys) c.3857G>A (p.Arg1286Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7582916G>C | CA362689110 | DSP | c.4325G>C (p.Arg1442Thr) c.5654G>C (p.Arg1885Thr) c.3857G>C (p.Arg1286Thr) | |
| 6 | g.7582916G= | CA1608606503 | DSP | c.4325G= (p.Arg1442=) c.5654G= (p.Arg1885=) c.3857G= (p.Arg1286=) | |
| 6 | g.7582916G>T | CA362689109 | DSP | c.4325G>T (p.Arg1442Ile) c.5654G>T (p.Arg1885Ile) c.3857G>T (p.Arg1286Ile) | |
| 6 | g.7582917A= | CA1608606513 | DSP | c.4326A= (p.Arg1442=) c.5655A= (p.Arg1885=) c.3858A= (p.Arg1286=) | |
| 6 | g.7582917A>C | CA362689111 | DSP | c.4326A>C (p.Arg1442Ser) c.5655A>C (p.Arg1885Ser) c.3858A>C (p.Arg1286Ser) | |
| 6 | g.7582917A>G | CA045426 | DSP | c.4326A>G (p.Arg1442=) c.5655A>G (p.Arg1885=) c.3858A>G (p.Arg1286=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7582917A>T | CA362689112 | DSP | c.4326A>T (p.Arg1442Ser) c.5655A>T (p.Arg1885Ser) c.3858A>T (p.Arg1286Ser) | |
| 6 | g.7582918G>A | CA362689113 | DSP | c.4327G>A (p.Glu1443Lys) c.5656G>A (p.Glu1886Lys) c.3859G>A (p.Glu1287Lys) | |
| 6 | g.7582918G>C | CA045444 | DSP | c.4327G>C (p.Glu1443Gln) c.5656G>C (p.Glu1886Gln) c.3859G>C (p.Glu1287Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7582918G= | CA1608606521 | DSP | c.4327G= (p.Glu1443=) c.5656G= (p.Glu1886=) c.3859G= (p.Glu1287=) | |
| 6 | g.7582918G>T | CA362689114 | DSP | c.4327G>T (p.Glu1443Ter) c.5656G>T (p.Glu1886Ter) c.3859G>T (p.Glu1287Ter) | |
| 6 | g.7582919A= | CA1608606527 | DSP | c.4328A= (p.Glu1443=) c.5657A= (p.Glu1886=) c.3860A= (p.Glu1287=) | |
| 6 | g.7582919A>C | CA362689115 | DSP | c.4328A>C (p.Glu1443Ala) c.5657A>C (p.Glu1886Ala) c.3860A>C (p.Glu1287Ala) | |
| 6 | g.7582919A>G | CA362689116 | DSP | c.4328A>G (p.Glu1443Gly) c.5657A>G (p.Glu1886Gly) c.3860A>G (p.Glu1287Gly) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7582919A>T | CA362689117 | DSP | c.4328A>T (p.Glu1443Val) c.5657A>T (p.Glu1886Val) c.3860A>T (p.Glu1287Val) | |
| 6 | g.7582921_7582922del | CA2677234957 | DSP | c.4330_4331del (p.Lys1444GlufsTer2) c.5659_5660del (p.Lys1887GlufsTer2) c.3862_3863del (p.Lys1288GlufsTer2) | gnomAD v4 |
| 6 | g.7582920A>C | CA362689118 | DSP | c.4329A>C (p.Glu1443Asp) c.5658A>C (p.Glu1886Asp) c.3861A>C (p.Glu1287Asp) | |
| 6 | g.7582920A>G | CA448715445 | DSP | c.4329A>G (p.Glu1443=) c.5658A>G (p.Glu1886=) c.3861A>G (p.Glu1287=) | gnomAD v4 |
| 6 | g.7582920A>T | CA362689119 | DSP | c.4329A>T (p.Glu1443Asp) c.5658A>T (p.Glu1886Asp) c.3861A>T (p.Glu1287Asp) | |
| 6 | g.7582921A>C | CA362689122 | DSP | c.4330A>C (p.Lys1444Gln) c.5659A>C (p.Lys1887Gln) c.3862A>C (p.Lys1288Gln) | |
| 6 | g.7582921A>G | CA362689121 | DSP | c.4330A>G (p.Lys1444Glu) c.5659A>G (p.Lys1887Glu) c.3862A>G (p.Lys1288Glu) | ClinVar |
| 6 | g.7582921A>T | CA362689120 | DSP | c.4330A>T (p.Lys1444Ter) c.5659A>T (p.Lys1887Ter) c.3862A>T (p.Lys1288Ter) | |
| 6 | g.7582922A>C | CA362689123 | DSP | c.4331A>C (p.Lys1444Thr) c.5660A>C (p.Lys1887Thr) c.3863A>C (p.Lys1288Thr) | |
| 6 | g.7582922A>G | CA362689124 | DSP | c.4331A>G (p.Lys1444Arg) c.5660A>G (p.Lys1887Arg) c.3863A>G (p.Lys1288Arg) | |
| 6 | g.7582922A>T | CA362689125 | DSP | c.4331A>T (p.Lys1444Met) c.5660A>T (p.Lys1887Met) c.3863A>T (p.Lys1288Met) | |
| 6 | g.7582922_7582926delinsAGAGT | CA1608606531 | DSP | c.4331_4335delinsAGAGT (p.Lys1444=) c.5660_5664delinsAGAGT (p.Lys1887=) c.3863_3867delinsAGAGT (p.Lys1288=) | |
| 6 | g.7582923G>A | CA448715446 | DSP | c.4332G>A (p.Lys1444=) c.5661G>A (p.Lys1887=) c.3864G>A (p.Lys1288=) | |
| 6 | g.7582923G>C | CA362689126 | DSP | c.4332G>C (p.Lys1444Asn) c.5661G>C (p.Lys1887Asn) c.3864G>C (p.Lys1288Asn) | |
| 6 | g.7582923G>T | CA362689127 | DSP | c.4332G>T (p.Lys1444Asn) c.5661G>T (p.Lys1887Asn) c.3864G>T (p.Lys1288Asn) | |
| 6 | g.7582926_7582929del | CA1608606548 | DSP | c.4335_4338del (p.Ser1445ArgfsTer?) c.5664_5667del (p.Ser1888ArgfsTer?) c.3867_3870del (p.Ser1289ArgfsTer?) | ClinVar dbSNP |
| 6 | g.7582924A= | CA1608606552 | DSP | c.4333A= (p.Ser1445=) c.5662A= (p.Ser1888=) c.3865A= (p.Ser1289=) | |
| 6 | g.7582924A>C | CA362689128 | DSP | c.4333A>C (p.Ser1445Arg) c.5662A>C (p.Ser1888Arg) c.3865A>C (p.Ser1289Arg) | gnomAD v4 |
| 6 | g.7582924A>G | CA362689129 | DSP | c.4333A>G (p.Ser1445Gly) c.5662A>G (p.Ser1888Gly) c.3865A>G (p.Ser1289Gly) | |
| 6 | g.7582924A>T | CA362689130 | DSP | c.4333A>T (p.Ser1445Cys) c.5662A>T (p.Ser1888Cys) c.3865A>T (p.Ser1289Cys) | |
| 6 | g.7582925G>A | CA362689131 | DSP | c.4334G>A (p.Ser1445Asn) c.5663G>A (p.Ser1888Asn) c.3866G>A (p.Ser1289Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7582925G>C | CA362689132 | DSP | c.4334G>C (p.Ser1445Thr) c.5663G>C (p.Ser1888Thr) c.3866G>C (p.Ser1289Thr) | |
| 6 | g.7582925G= | CA1608606557 | DSP | c.4334G= (p.Ser1445=) c.5663G= (p.Ser1888=) c.3866G= (p.Ser1289=) | |
| 6 | g.7582925G>T | CA362689133 | DSP | c.4334G>T (p.Ser1445Ile) c.5663G>T (p.Ser1888Ile) c.3866G>T (p.Ser1289Ile) | |
| 6 | g.7582925dup | CA828149812 | DSP | c.4334dup (p.Ser1445ArgfsTer2) c.5663dup (p.Ser1888ArgfsTer2) c.3866dup (p.Ser1289ArgfsTer2) | dbSNP |
| 6 | g.7582926_7582927del | CA2677234960 | DSP | c.4335_4336del (p.Ser1445ArgfsTer8) c.5664_5665del (p.Ser1888ArgfsTer8) c.3867_3868del (p.Ser1289ArgfsTer8) | gnomAD v4 |
| 6 | g.7582926T>A | CA362689134 | DSP | c.4335T>A (p.Ser1445Arg) c.5664T>A (p.Ser1888Arg) c.3867T>A (p.Ser1289Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7582926T>C | CA448715473 | DSP | c.4335T>C (p.Ser1445=) c.5664T>C (p.Ser1888=) c.3867T>C (p.Ser1289=) | |
| 6 | g.7582926T>G | CA362689135 | DSP | c.4335T>G (p.Ser1445Arg) c.5664T>G (p.Ser1888Arg) c.3867T>G (p.Ser1289Arg) | gnomAD v3 gnomAD v4 |
| 6 | g.7582926T= | CA1608606568 | DSP | c.4335T= (p.Ser1445=) c.5664T= (p.Ser1888=) c.3867T= (p.Ser1289=) | |
| 6 | g.7582926_7582930delinsTGAGA | CA1608606573 | DSP | c.4335_4339delinsTGAGA (p.Ser1445=) c.5664_5668delinsTGAGA (p.Ser1888=) c.3867_3871delinsTGAGA (p.Ser1289=) | |
| 6 | g.7582927G>A | CA362689137 | DSP | c.4336G>A (p.Glu1446Lys) c.5665G>A (p.Glu1889Lys) c.3868G>A (p.Glu1290Lys) | |
| 6 | g.7582927G>C | CA362689138 | DSP | c.4336G>C (p.Glu1446Gln) c.5665G>C (p.Glu1889Gln) c.3868G>C (p.Glu1290Gln) | |
| 6 | g.7582927G>T | CA362689136 | DSP | c.4336G>T (p.Glu1446Ter) c.5665G>T (p.Glu1889Ter) c.3868G>T (p.Glu1290Ter) | ClinVar gnomAD v4 |
| 6 | g.7582935_7582936dup | CA645552057 | DSP | c.4344_4345dup (p.Lys1449ArgfsTer?) c.5673_5674dup (p.Lys1892ArgfsTer?) c.3876_3877dup (p.Lys1293ArgfsTer?) | ClinVar dbSNP COSMIC |
| 6 | g.7582935_7582936del | CA658657578 | DSP | c.4344_4345del (p.Lys1449GlufsTer4) c.5673_5674del (p.Lys1892GlufsTer4) c.3876_3877del (p.Lys1293GlufsTer4) | ClinVar dbSNP |
| 6 | g.7582933_7582936del | CA565358149 | DSP | c.4342_4345del (p.Glu1448ArgfsTer?) c.5671_5674del (p.Glu1891ArgfsTer?) c.3874_3877del (p.Glu1292ArgfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7582928A>C | CA362689140 | DSP | c.4337A>C (p.Glu1446Ala) c.5666A>C (p.Glu1889Ala) c.3869A>C (p.Glu1290Ala) | |
| 6 | g.7582928A>G | CA362689139 | DSP | c.4337A>G (p.Glu1446Gly) c.5666A>G (p.Glu1889Gly) c.3869A>G (p.Glu1290Gly) | |
| 6 | g.7582928A>T | CA362689141 | DSP | c.4337A>T (p.Glu1446Val) c.5666A>T (p.Glu1889Val) c.3869A>T (p.Glu1290Val) | |
| 6 | g.7582929G>A | CA448715474 | DSP | c.4338G>A (p.Glu1446=) c.5667G>A (p.Glu1889=) c.3870G>A (p.Glu1290=) | |
| 6 | g.7582929G>C | CA362689142 | DSP | c.4338G>C (p.Glu1446Asp) c.5667G>C (p.Glu1889Asp) c.3870G>C (p.Glu1290Asp) | gnomAD v4 |
| 6 | g.7582929G>T | CA362689143 | DSP | c.4338G>T (p.Glu1446Asp) c.5667G>T (p.Glu1889Asp) c.3870G>T (p.Glu1290Asp) | |
| 6 | g.7582930A= | CA1608606593 | DSP | c.4339A= (p.Arg1447=) c.5668A= (p.Arg1890=) c.3871A= (p.Arg1291=) | |
| 6 | g.7582930A>C | CA448715475 | DSP | c.4339A>C (p.Arg1447=) c.5668A>C (p.Arg1890=) c.3871A>C (p.Arg1291=) | |
| 6 | g.7582930A>G | CA045475 | DSP | c.4339A>G (p.Arg1447Gly) c.5668A>G (p.Arg1890Gly) c.3871A>G (p.Arg1291Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7582930A>T | CA362689144 | DSP | c.4339A>T (p.Arg1447Ter) c.5668A>T (p.Arg1890Ter) c.3871A>T (p.Arg1291Ter) | |
| 6 | g.7582931G>A | CA045498 | DSP | c.4340G>A (p.Arg1447Lys) c.5669G>A (p.Arg1890Lys) c.3872G>A (p.Arg1291Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7582931G>C | CA045514 | DSP | c.4340G>C (p.Arg1447Thr) c.5669G>C (p.Arg1890Thr) c.3872G>C (p.Arg1291Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7582931G= | CA1608606596 | DSP | c.4340G= (p.Arg1447=) c.5669G= (p.Arg1890=) c.3872G= (p.Arg1291=) | |
| 6 | g.7582931G>T | CA362689145 | DSP | c.4340G>T (p.Arg1447Ile) c.5669G>T (p.Arg1890Ile) c.3872G>T (p.Arg1291Ile) | |
| 6 | g.7582932A>C | CA362689146 | DSP | c.4341A>C (p.Arg1447Ser) c.5670A>C (p.Arg1890Ser) c.3873A>C (p.Arg1291Ser) | |
| 6 | g.7582932A>G | CA448715476 | DSP | c.4341A>G (p.Arg1447=) c.5670A>G (p.Arg1890=) c.3873A>G (p.Arg1291=) | |
| 6 | g.7582932A>T | CA362689147 | DSP | c.4341A>T (p.Arg1447Ser) c.5670A>T (p.Arg1890Ser) c.3873A>T (p.Arg1291Ser) | |
| 6 | g.7582933G>A | CA362689148 | DSP | c.4342G>A (p.Glu1448Lys) c.5671G>A (p.Glu1891Lys) c.3874G>A (p.Glu1292Lys) | gnomAD v4 |
| 6 | g.7582933G>C | CA362689149 | DSP | c.4342G>C (p.Glu1448Gln) c.5671G>C (p.Glu1891Gln) c.3874G>C (p.Glu1292Gln) | COSMIC |
| 6 | g.7582933G>T | CA362689150 | DSP | c.4342G>T (p.Glu1448Ter) c.5671G>T (p.Glu1891Ter) c.3874G>T (p.Glu1292Ter) | |
| 6 | g.7582933_7582936delinsGAGA | CA1608606601 | DSP | c.4342_4345delinsGAGA (p.Glu1448=) c.5671_5674delinsGAGA (p.Glu1891=) c.3874_3877delinsGAGA (p.Glu1292=) | |
| 6 | g.7582933_7587670delinsAGAACAGTCTT | CA2580075482 | ClinVar | ||
| 6 | g.7582933_7587670delinsAGAGAAGAACAGTCTT | CA915944145 | ClinVar |