Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.148994580_148994604delinsGTGGGTGGTTGGGTGGTTAGATGGT | CA1590297718 | SH3TC2 | c.*10107_*10131delinsACCATCTAACCACCCAACCACCCAC (n.*10107_*10131delinsACCATCTAACCACCCAACCACCCAC) c.*12+9122_*12+9146delinsACCATCTAACCACCCAACCACCCAC (n.*12+9122_*12+9146delinsACCATCTAACCACCCAACCACCCAC) n.231+12277_231+12301delinsACCATCTAACCACCCAACCACCCAC | |
5 | g.148994584_148994607del | CA805483634 | SH3TC2 | c.*10107_*10130del (n.*10107_*10130del) c.*12+9122_*12+9145del (n.*12+9122_*12+9145del) n.231+12277_231+12300del | dbSNP |
5 | g.148994592_148994600delinsGTGGTTAGA | CA1590297732 | SH3TC2 | c.*10111_*10119delinsTCTAACCAC (n.*10111_*10119delinsTCTAACCAC) c.*12+9126_*12+9134delinsTCTAACCAC (n.*12+9126_*12+9134delinsTCTAACCAC) n.231+12281_231+12289delinsTCTAACCAC | |
5 | g.148994592_148994612delinsGTGGTTAGATGGTTGGTTGGT | CA1590297729 | SH3TC2 | c.*10099_*10119delinsACCAACCAACCATCTAACCAC (n.*10099_*10119delinsACCAACCAACCATCTAACCAC) c.*12+9114_*12+9134delinsACCAACCAACCATCTAACCAC (n.*12+9114_*12+9134delinsACCAACCAACCATCTAACCAC) n.231+12269_231+12289delinsACCAACCAACCATCTAACCAC | |
5 | g.148994598_148994605del | CA1082791702 | SH3TC2 | c.*10111_*10118del (n.*10111_*10118del) c.*12+9126_*12+9133del (n.*12+9126_*12+9133del) n.231+12281_231+12288del | dbSNP gnomAD v3 gnomAD v4 |
5 | g.148994598_148994617del | CA563537139 | SH3TC2 | c.*10099_*10118del (n.*10099_*10118del) c.*12+9114_*12+9133del (n.*12+9114_*12+9133del) n.231+12269_231+12288del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.148994596_148994600delinsTTAGA | CA1590297737 | SH3TC2 | c.*10111_*10115delinsTCTAA (n.*10111_*10115delinsTCTAA) c.*12+9126_*12+9130delinsTCTAA (n.*12+9126_*12+9130delinsTCTAA) n.231+12281_231+12285delinsTCTAA | |
5 | g.148994598_148994601del | CA10623242 | SH3TC2 | c.*10111_*10114del (n.*10111_*10114del) c.*12+9126_*12+9129del (n.*12+9126_*12+9129del) n.231+12281_231+12284del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.148994598A= | CA1590297738 | SH3TC2 | c.*10113T= (n.*10113T=) c.*12+9128T= (n.*12+9128T=) n.231+12283T= | |
5 | g.148994598A>G | CA128989022 | SH3TC2 | c.*10113T>C (n.*10113T>C) c.*12+9128T>C (n.*12+9128T>C) n.231+12283T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.148994598_148994606delinsAGATGGTTG | CA1590297739 | SH3TC2 | c.*10105_*10113delinsCAACCATCT (n.*10105_*10113delinsCAACCATCT) c.*12+9120_*12+9128delinsCAACCATCT (n.*12+9120_*12+9128delinsCAACCATCT) n.231+12275_231+12283delinsCAACCATCT | |
5 | g.148994598_148994608delinsAGATGGTTGGT | CA1590297740 | SH3TC2 | c.*10103_*10113delinsACCAACCATCT (n.*10103_*10113delinsACCAACCATCT) c.*12+9118_*12+9128delinsACCAACCATCT (n.*12+9118_*12+9128delinsACCAACCATCT) n.231+12273_231+12283delinsACCAACCATCT | |
5 | g.148994599G= | CA1590297742 | SH3TC2 | c.*10112C= (n.*10112C=) c.*12+9127C= (n.*12+9127C=) n.231+12282C= | |
5 | g.148994599G>T | CA1590297743 | SH3TC2 | c.*10112C>A (n.*10112C>A) c.*12+9127C>A (n.*12+9127C>A) n.231+12282C>A | dbSNP |
5 | g.148994600_148994607del | CA1590297741 | SH3TC2 | c.*10105_*10112del (n.*10105_*10112del) c.*12+9120_*12+9127del (n.*12+9120_*12+9127del) n.231+12275_231+12282del | dbSNP |
5 | g.148994599_148994608del | CA1082791709 | SH3TC2 | c.*10103_*10112del (n.*10103_*10112del) c.*12+9118_*12+9127del (n.*12+9118_*12+9127del) n.231+12273_231+12282del | dbSNP gnomAD v3 gnomAD v4 |
5 | g.148994599_148994600insTGGT | CA650763944 | SH3TC2 | c.*10111_*10112insACCA (n.*10111_*10112insACCA) c.*12+9126_*12+9127insACCA (n.*12+9126_*12+9127insACCA) n.231+12281_231+12282insACCA | COSMIC |
5 | g.148994600A= | CA1590297744 | SH3TC2 | c.*10111T= (n.*10111T=) c.*12+9126T= (n.*12+9126T=) n.231+12281T= | |
5 | g.148994600A>G | CA128989031 | SH3TC2 | c.*10111T>C (n.*10111T>C) c.*12+9126T>C (n.*12+9126T>C) n.231+12281T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.148994600A>T | CA805483648 | SH3TC2 | c.*10111T>A (n.*10111T>A) c.*12+9126T>A (n.*12+9126T>A) n.231+12281T>A | dbSNP |
5 | g.148994600_148994604delinsATGGT | CA2497029646 | SH3TC2 | c.*10107_*10111delinsACCAT (n.*10107_*10111delinsACCAT) c.*12+9122_*12+9126delinsACCAT (n.*12+9122_*12+9126delinsACCAT) n.231+12277_231+12281delinsACCAT | |
5 | g.148994600_148994608delinsATGGTTGGT | CA2588340345 | SH3TC2 | c.*10103_*10111delinsACCAACCAT (n.*10103_*10111delinsACCAACCAT) c.*12+9118_*12+9126delinsACCAACCAT (n.*12+9118_*12+9126delinsACCAACCAT) n.231+12273_231+12281delinsACCAACCAT | |
5 | g.148994600_148994612delinsATGGTTGGTTGGT | CA2695196139 | SH3TC2 | c.*10099_*10111delinsACCAACCAACCAT (n.*10099_*10111delinsACCAACCAACCAT) c.*12+9114_*12+9126delinsACCAACCAACCAT (n.*12+9114_*12+9126delinsACCAACCAACCAT) n.231+12269_231+12281delinsACCAACCAACCAT | |
5 | g.148994600_148994632delinsATGGTTGGTTGGTTGGTTGGTTGGTTGGTTGGT | CA1590297745 | SH3TC2 | c.*10079_*10111delinsACCAACCAACCAACCAACCAACCAACCAACCAT (n.*10079_*10111delinsACCAACCAACCAACCAACCAACCAACCAACCAT) c.*12+9094_*12+9126delinsACCAACCAACCAACCAACCAACCAACCAACCAT (n.*12+9094_*12+9126delinsACCAACCAACCAACCAACCAACCAACCAACCAT) n.231+12249_231+12281delinsACCAACCAACCAACCAACCAACCAACCAACCAT | |
5 | g.148994601T>C | CA1590297746 | SH3TC2 | c.*10110A>G (n.*10110A>G) c.*12+9125A>G (n.*12+9125A>G) n.231+12280A>G | dbSNP |
5 | g.148994601T>G | CA563537148 | SH3TC2 | c.*10110A>C (n.*10110A>C) c.*12+9125A>C (n.*12+9125A>C) n.231+12280A>C | gnomAD v2 |
5 | g.148994601T= | CA1590297747 | SH3TC2 | c.*10110A= (n.*10110A=) c.*12+9125A= (n.*12+9125A=) n.231+12280A= | |
5 | g.148994658_148994661dup | CA10623363 | SH3TC2 | c.*10107_*10110dup (n.*10107_*10110dup) c.*12+9122_*12+9125dup (n.*12+9122_*12+9125dup) n.231+12277_231+12280dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.148994654_148994661dup | CA128989037 | SH3TC2 | c.*10103_*10110dup (n.*10103_*10110dup) c.*12+9118_*12+9125dup (n.*12+9118_*12+9125dup) n.231+12273_231+12280dup | dbSNP gnomAD v3 gnomAD v4 |
5 | g.148994650_148994661dup | CA1082791766 | SH3TC2 | c.*10099_*10110dup (n.*10099_*10110dup) c.*12+9114_*12+9125dup (n.*12+9114_*12+9125dup) n.231+12269_231+12280dup | dbSNP gnomAD v3 gnomAD v4 |
5 | g.148994622_148994661dup | CA1082791761 | SH3TC2 | c.*10071_*10110dup (n.*10071_*10110dup) c.*12+9086_*12+9125dup (n.*12+9086_*12+9125dup) n.231+12241_231+12280dup | gnomAD v3 gnomAD v4 |
5 | g.148994658_148994661del | CA10620655 | SH3TC2 | c.*10107_*10110del (n.*10107_*10110del) c.*12+9122_*12+9125del (n.*12+9122_*12+9125del) n.231+12277_231+12280del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.148994654_148994661del | CA10620656 | SH3TC2 | c.*10103_*10110del (n.*10103_*10110del) c.*12+9118_*12+9125del (n.*12+9118_*12+9125del) n.231+12273_231+12280del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.148994650_148994661del | CA563537151 | SH3TC2 | c.*10099_*10110del (n.*10099_*10110del) c.*12+9114_*12+9125del (n.*12+9114_*12+9125del) n.231+12269_231+12280del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.148994646_148994661del | CA563537152 | SH3TC2 | c.*10095_*10110del (n.*10095_*10110del) c.*12+9110_*12+9125del (n.*12+9110_*12+9125del) n.231+12265_231+12280del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.148994642_148994661del | CA563537153 | SH3TC2 | c.*10091_*10110del (n.*10091_*10110del) c.*12+9106_*12+9125del (n.*12+9106_*12+9125del) n.231+12261_231+12280del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.148994638_148994661del | CA805483680 | SH3TC2 | c.*10087_*10110del (n.*10087_*10110del) c.*12+9102_*12+9125del (n.*12+9102_*12+9125del) n.231+12257_231+12280del | dbSNP gnomAD v3 gnomAD v4 |
5 | g.148994634_148994661del | CA805483683 | SH3TC2 | c.*10083_*10110del (n.*10083_*10110del) c.*12+9098_*12+9125del (n.*12+9098_*12+9125del) n.231+12253_231+12280del | dbSNP gnomAD v3 gnomAD v4 |
5 | g.148994630_148994661del | CA805483685 | SH3TC2 | c.*10079_*10110del (n.*10079_*10110del) c.*12+9094_*12+9125del (n.*12+9094_*12+9125del) n.231+12249_231+12280del | dbSNP gnomAD v3 gnomAD v4 |
5 | g.148994622_148994661del | CA1082791754 | SH3TC2 | c.*10071_*10110del (n.*10071_*10110del) c.*12+9086_*12+9125del (n.*12+9086_*12+9125del) n.231+12241_231+12280del | gnomAD v3 gnomAD v4 |
5 | g.148994618_148994661del | CA1082791735 | SH3TC2 | c.*10067_*10110del (n.*10067_*10110del) c.*12+9082_*12+9125del (n.*12+9082_*12+9125del) n.231+12237_231+12280del | gnomAD v3 gnomAD v4 |
5 | g.148994604T>A | CA1590297749 | SH3TC2 | c.*10107A>T (n.*10107A>T) c.*12+9122A>T (n.*12+9122A>T) n.231+12277A>T | dbSNP |
5 | g.148994604T>G | CA128989040 | SH3TC2 | c.*10107A>C (n.*10107A>C) c.*12+9122A>C (n.*12+9122A>C) n.231+12277A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.148994604T= | CA1590297748 | SH3TC2 | c.*10107A= (n.*10107A=) c.*12+9122A= (n.*12+9122A=) n.231+12277A= | |
5 | g.148994605_148994606insAGAT | CA805483706 | SH3TC2 | c.*10106_*10107insTCTA (n.*10106_*10107insTCTA) c.*12+9121_*12+9122insTCTA (n.*12+9121_*12+9122insTCTA) n.231+12276_231+12277insTCTA | dbSNP gnomAD v3 gnomAD v4 |
5 | g.148994606G>A | CA10623369 | SH3TC2 | c.*10105C>T (n.*10105C>T) c.*12+9120C>T (n.*12+9120C>T) n.231+12275C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.148994606G= | CA1590297750 | SH3TC2 | c.*10105C= (n.*10105C=) c.*12+9120C= (n.*12+9120C=) n.231+12275C= | |
5 | g.148994606G>T | CA1590297751 | SH3TC2 | c.*10105C>A (n.*10105C>A) c.*12+9120C>A (n.*12+9120C>A) n.231+12275C>A | dbSNP |
5 | g.148994607G>A | CA1590297753 | SH3TC2 | c.*10104C>T (n.*10104C>T) c.*12+9119C>T (n.*12+9119C>T) n.231+12274C>T | dbSNP |
5 | g.148994607G= | CA1590297752 | SH3TC2 | c.*10104C= (n.*10104C=) c.*12+9119C= (n.*12+9119C=) n.231+12274C= |