Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.87530778T>A | CA162110330 | ABCB1 | c.2685+516A>T (n.2685+516A>T) n.327+516A>T n.313+516A>T c.2493+516A>T (n.2493+516A>T) c.2895+516A>T (n.2895+516A>T) | dbSNP |
7 | g.87530778T>G | CA2534655629 | ABCB1 | c.2685+516A>C (n.2685+516A>C) n.327+516A>C n.313+516A>C c.2493+516A>C (n.2493+516A>C) c.2895+516A>C (n.2895+516A>C) | |
7 | g.87530778T= | CA1723630825 | ABCB1 | c.2685+516A= (n.2685+516A=) n.327+516A= n.313+516A= c.2493+516A= (n.2493+516A=) c.2895+516A= (n.2895+516A=) | |
7 | g.87530779T>A | CA1723630853 | ABCB1 | c.2685+515A>T (n.2685+515A>T) n.327+515A>T n.313+515A>T c.2493+515A>T (n.2493+515A>T) c.2895+515A>T (n.2895+515A>T) | dbSNP |
7 | g.87530779T>G | CA162110331 | ABCB1 | c.2685+515A>C (n.2685+515A>C) n.327+515A>C n.313+515A>C c.2493+515A>C (n.2493+515A>C) c.2895+515A>C (n.2895+515A>C) | dbSNP |
7 | g.87530779T= | CA1723630855 | ABCB1 | c.2685+515A= (n.2685+515A=) n.327+515A= n.313+515A= c.2493+515A= (n.2493+515A=) c.2895+515A= (n.2895+515A=) | |
7 | g.87530780G>C | CA1723630858 | ABCB1 | c.2685+514C>G (n.2685+514C>G) n.327+514C>G n.313+514C>G c.2493+514C>G (n.2493+514C>G) c.2895+514C>G (n.2895+514C>G) | dbSNP |
7 | g.87530780G= | CA1723630856 | ABCB1 | c.2685+514C= (n.2685+514C=) n.327+514C= n.313+514C= c.2493+514C= (n.2493+514C=) c.2895+514C= (n.2895+514C=) | |
7 | g.87530781_87530798delinsAAAGAAAAGAAAGAAAGC | CA1723630859 | ABCB1 | c.2685+496_2685+513delinsGCTTTCTTTCTTTTCTTT (n.2685+496_2685+513delinsGCTTTCTTTCTTTTCTTT) n.327+496_327+513delinsGCTTTCTTTCTTTTCTTT n.313+496_313+513delinsGCTTTCTTTCTTTTCTTT c.2493+496_2493+513delinsGCTTTCTTTCTTTTCTTT (n.2493+496_2493+513delinsGCTTTCTTTCTTTTCTTT) c.2895+496_2895+513delinsGCTTTCTTTCTTTTCTTT (n.2895+496_2895+513delinsGCTTTCTTTCTTTTCTTT) | |
7 | g.87530788_87530804del | CA843378540 | ABCB1 | c.2685+496_2685+512del (n.2685+496_2685+512del) n.327+496_327+512del n.313+496_313+512del c.2493+496_2493+512del (n.2493+496_2493+512del) c.2895+496_2895+512del (n.2895+496_2895+512del) | dbSNP |
7 | g.87530784G>C | CA162110334 | ABCB1 | c.2685+510C>G (n.2685+510C>G) n.327+510C>G n.313+510C>G c.2493+510C>G (n.2493+510C>G) c.2895+510C>G (n.2895+510C>G) | dbSNP |
7 | g.87530784G= | CA1723630860 | ABCB1 | c.2685+510C= (n.2685+510C=) n.327+510C= n.313+510C= c.2493+510C= (n.2493+510C=) c.2895+510C= (n.2895+510C=) | |
7 | g.87530784_87530785delinsGA | CA1723630862 | ABCB1 | c.2685+509_2685+510delinsTC (n.2685+509_2685+510delinsTC) n.327+509_327+510delinsTC n.313+509_313+510delinsTC c.2493+509_2493+510delinsTC (n.2493+509_2493+510delinsTC) c.2895+509_2895+510delinsTC (n.2895+509_2895+510delinsTC) | |
7 | g.87530785A= | CA1723630871 | ABCB1 | c.2685+509T= (n.2685+509T=) n.327+509T= n.313+509T= c.2493+509T= (n.2493+509T=) c.2895+509T= (n.2895+509T=) | |
7 | g.87530785A>G | CA162110337 | ABCB1 | c.2685+509T>C (n.2685+509T>C) n.327+509T>C n.313+509T>C c.2493+509T>C (n.2493+509T>C) c.2895+509T>C (n.2895+509T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87530788del | CA843378550 | ABCB1 | c.2685+509del (n.2685+509del) n.327+509del n.313+509del c.2493+509del (n.2493+509del) c.2895+509del (n.2895+509del) | dbSNP |
7 | g.87530785_87530793delinsAAAAGAAAG | CA1723630873 | ABCB1 | c.2685+501_2685+509delinsCTTTCTTTT (n.2685+501_2685+509delinsCTTTCTTTT) n.327+501_327+509delinsCTTTCTTTT n.313+501_313+509delinsCTTTCTTTT c.2493+501_2493+509delinsCTTTCTTTT (n.2493+501_2493+509delinsCTTTCTTTT) c.2895+501_2895+509delinsCTTTCTTTT (n.2895+501_2895+509delinsCTTTCTTTT) | |
7 | g.87530785_87530801delinsAAAAGAAAGAAAGCAAG | CA1723630870 | ABCB1 | c.2685+493_2685+509delinsCTTGCTTTCTTTCTTTT (n.2685+493_2685+509delinsCTTGCTTTCTTTCTTTT) n.327+493_327+509delinsCTTGCTTTCTTTCTTTT n.313+493_313+509delinsCTTGCTTTCTTTCTTTT c.2493+493_2493+509delinsCTTGCTTTCTTTCTTTT (n.2493+493_2493+509delinsCTTGCTTTCTTTCTTTT) c.2895+493_2895+509delinsCTTGCTTTCTTTCTTTT (n.2895+493_2895+509delinsCTTGCTTTCTTTCTTTT) | |
7 | g.87530785_87530809delinsAAAAGAAAGAAAGCAAGAAAGCAAG | CA1723630872 | ABCB1 | c.2685+485_2685+509delinsCTTGCTTTCTTGCTTTCTTTCTTTT (n.2685+485_2685+509delinsCTTGCTTTCTTGCTTTCTTTCTTTT) n.327+485_327+509delinsCTTGCTTTCTTGCTTTCTTTCTTTT n.313+485_313+509delinsCTTGCTTTCTTGCTTTCTTTCTTTT c.2493+485_2493+509delinsCTTGCTTTCTTGCTTTCTTTCTTTT (n.2493+485_2493+509delinsCTTGCTTTCTTGCTTTCTTTCTTTT) c.2895+485_2895+509delinsCTTGCTTTCTTGCTTTCTTTCTTTT (n.2895+485_2895+509delinsCTTGCTTTCTTGCTTTCTTTCTTTT) | |
7 | g.87530785_87530817delinsAAAAGAAAGAAAGCAAGAAAGCAAGAAAGCAAG | CA1723630868 | ABCB1 | c.2685+477_2685+509delinsCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTTT (n.2685+477_2685+509delinsCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTTT) n.327+477_327+509delinsCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTTT n.313+477_313+509delinsCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTTT c.2493+477_2493+509delinsCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTTT (n.2493+477_2493+509delinsCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTTT) c.2895+477_2895+509delinsCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTTT (n.2895+477_2895+509delinsCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTTT) | |
7 | g.87530789_87530790insCAAGAAAG | CA1723630881 | ABCB1 | c.2685+508_2685+509insCTTGCTTT (n.2685+508_2685+509insCTTGCTTT) n.327+508_327+509insCTTGCTTT n.313+508_313+509insCTTGCTTT c.2493+508_2493+509insCTTGCTTT (n.2493+508_2493+509insCTTGCTTT) c.2895+508_2895+509insCTTGCTTT (n.2895+508_2895+509insCTTGCTTT) | dbSNP |
7 | g.87530794_87530797dup | CA843378559 | ABCB1 | c.2685+505_2685+508dup (n.2685+505_2685+508dup) n.327+505_327+508dup n.313+505_313+508dup c.2493+505_2493+508dup (n.2493+505_2493+508dup) c.2895+505_2895+508dup (n.2895+505_2895+508dup) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.87530790_87530797dup | CA1104125827 | ABCB1 | c.2685+501_2685+508dup (n.2685+501_2685+508dup) n.327+501_327+508dup n.313+501_313+508dup c.2493+501_2493+508dup (n.2493+501_2493+508dup) c.2895+501_2895+508dup (n.2895+501_2895+508dup) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.87530794_87530797del | CA1723630887 | ABCB1 | c.2685+505_2685+508del (n.2685+505_2685+508del) n.327+505_327+508del n.313+505_313+508del c.2493+505_2493+508del (n.2493+505_2493+508del) c.2895+505_2895+508del (n.2895+505_2895+508del) | dbSNP |
7 | g.87530790_87530797del | CA575861914 | ABCB1 | c.2685+501_2685+508del (n.2685+501_2685+508del) n.327+501_327+508del n.313+501_313+508del c.2493+501_2493+508del (n.2493+501_2493+508del) c.2895+501_2895+508del (n.2895+501_2895+508del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87530786_87530798delinsAAAGAAAGAAAGC | CA1723630884 | ABCB1 | c.2685+496_2685+508delinsGCTTTCTTTCTTT (n.2685+496_2685+508delinsGCTTTCTTTCTTT) n.327+496_327+508delinsGCTTTCTTTCTTT n.313+496_313+508delinsGCTTTCTTTCTTT c.2493+496_2493+508delinsGCTTTCTTTCTTT (n.2493+496_2493+508delinsGCTTTCTTTCTTT) c.2895+496_2895+508delinsGCTTTCTTTCTTT (n.2895+496_2895+508delinsGCTTTCTTTCTTT) | |
7 | g.87530790_87530805del | CA1723630882 | ABCB1 | c.2685+493_2685+508del (n.2685+493_2685+508del) n.327+493_327+508del n.313+493_313+508del c.2493+493_2493+508del (n.2493+493_2493+508del) c.2895+493_2895+508del (n.2895+493_2895+508del) | dbSNP |
7 | g.87530790_87530813del | CA918067070 | ABCB1 | c.2685+485_2685+508del (n.2685+485_2685+508del) n.327+485_327+508del n.313+485_313+508del c.2493+485_2493+508del (n.2493+485_2493+508del) c.2895+485_2895+508del (n.2895+485_2895+508del) | dbSNP |
7 | g.87530790_87530821del | CA1723630883 | ABCB1 | c.2685+477_2685+508del (n.2685+477_2685+508del) n.327+477_327+508del n.313+477_313+508del c.2493+477_2493+508del (n.2493+477_2493+508del) c.2895+477_2895+508del (n.2895+477_2895+508del) | dbSNP |
7 | g.87530787A>G | CA1104125834 | ABCB1 | c.2685+507T>C (n.2685+507T>C) n.327+507T>C n.313+507T>C c.2493+507T>C (n.2493+507T>C) c.2895+507T>C (n.2895+507T>C) | gnomAD v3 gnomAD v4 |
7 | g.87530794_87530805del | CA1723630893 | ABCB1 | c.2685+496_2685+507del (n.2685+496_2685+507del) n.327+496_327+507del n.313+496_313+507del c.2493+496_2493+507del (n.2493+496_2493+507del) c.2895+496_2895+507del (n.2895+496_2895+507del) | dbSNP |
7 | g.87530788A= | CA1723630897 | ABCB1 | c.2685+506T= (n.2685+506T=) n.327+506T= n.313+506T= c.2493+506T= (n.2493+506T=) c.2895+506T= (n.2895+506T=) | |
7 | g.87530788A>C | CA162110352 | ABCB1 | c.2685+506T>G (n.2685+506T>G) n.327+506T>G n.313+506T>G c.2493+506T>G (n.2493+506T>G) c.2895+506T>G (n.2895+506T>G) | dbSNP |
7 | g.87530789G>A | CA162110356 | ABCB1 | c.2685+505C>T (n.2685+505C>T) n.327+505C>T n.313+505C>T c.2493+505C>T (n.2493+505C>T) c.2895+505C>T (n.2895+505C>T) | dbSNP |
7 | g.87530789G= | CA1723630901 | ABCB1 | c.2685+505C= (n.2685+505C=) n.327+505C= n.313+505C= c.2493+505C= (n.2493+505C=) c.2895+505C= (n.2895+505C=) | |
7 | g.87530789_87530790insC | CA575861915 | ABCB1 | c.2685+504_2685+505insG (n.2685+504_2685+505insG) n.327+504_327+505insG n.313+504_313+505insG c.2493+504_2493+505insG (n.2493+504_2493+505insG) c.2895+504_2895+505insG (n.2895+504_2895+505insG) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87530790A= | CA1723630914 | ABCB1 | c.2685+504T= (n.2685+504T=) n.327+504T= n.313+504T= c.2493+504T= (n.2493+504T=) c.2895+504T= (n.2895+504T=) | |
7 | g.87530790A>C | CA162110358 | ABCB1 | c.2685+504T>G (n.2685+504T>G) n.327+504T>G n.313+504T>G c.2493+504T>G (n.2493+504T>G) c.2895+504T>G (n.2895+504T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87530790_87530822delinsAAAGAAAGCAAGAAAGCAAGAAAGCAAGAAAGC | CA1723630910 | ABCB1 | c.2685+472_2685+504delinsGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTT (n.2685+472_2685+504delinsGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTT) n.327+472_327+504delinsGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTT n.313+472_313+504delinsGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTT c.2493+472_2493+504delinsGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTT (n.2493+472_2493+504delinsGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTT) c.2895+472_2895+504delinsGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTT (n.2895+472_2895+504delinsGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTT) | |
7 | g.87530790_87530791insCAGAAAGC | CA2601259678 | ABCB1 | c.2685+503_2685+504insGCTTTCTG (n.2685+503_2685+504insGCTTTCTG) n.327+503_327+504insGCTTTCTG n.313+503_313+504insGCTTTCTG c.2493+503_2493+504insGCTTTCTG (n.2493+503_2493+504insGCTTTCTG) c.2895+503_2895+504insGCTTTCTG (n.2895+503_2895+504insGCTTTCTG) | gnomAD v3 gnomAD v4 |
7 | g.87530791A= | CA1723630926 | ABCB1 | c.2685+503T= (n.2685+503T=) n.327+503T= n.313+503T= c.2493+503T= (n.2493+503T=) c.2895+503T= (n.2895+503T=) | |
7 | g.87530791A>C | CA575861919 | ABCB1 | c.2685+503T>G (n.2685+503T>G) n.327+503T>G n.313+503T>G c.2493+503T>G (n.2493+503T>G) c.2895+503T>G (n.2895+503T>G) | gnomAD v2 |
7 | g.87530791_87530792insGAAAGCA | CA1104125855 | ABCB1 | c.2685+503_2685+504insGCTTTCT (n.2685+503_2685+504insGCTTTCT) n.327+503_327+504insGCTTTCT n.313+503_313+504insGCTTTCT c.2493+503_2493+504insGCTTTCT (n.2493+503_2493+504insGCTTTCT) c.2895+503_2895+504insGCTTTCT (n.2895+503_2895+504insGCTTTCT) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.87530838_87530845dup | CA162110361 | ABCB1 | c.2685+496_2685+503dup (n.2685+496_2685+503dup) n.327+496_327+503dup n.313+496_313+503dup c.2493+496_2493+503dup (n.2493+496_2493+503dup) c.2895+496_2895+503dup (n.2895+496_2895+503dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87530830_87530845dup | CA575861917 | ABCB1 | c.2685+488_2685+503dup (n.2685+488_2685+503dup) n.327+488_327+503dup n.313+488_313+503dup c.2493+488_2493+503dup (n.2493+488_2493+503dup) c.2895+488_2895+503dup (n.2895+488_2895+503dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87530822_87530845dup | CA1104125851 | ABCB1 | c.2685+480_2685+503dup (n.2685+480_2685+503dup) n.327+480_327+503dup n.313+480_313+503dup c.2493+480_2493+503dup (n.2493+480_2493+503dup) c.2895+480_2895+503dup (n.2895+480_2895+503dup) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.87530814_87530845dup | CA1104125853 | ABCB1 | c.2685+472_2685+503dup (n.2685+472_2685+503dup) n.327+472_327+503dup n.313+472_313+503dup c.2493+472_2493+503dup (n.2493+472_2493+503dup) c.2895+472_2895+503dup (n.2895+472_2895+503dup) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.87530838_87530845del | CA162110360 | ABCB1 | c.2685+496_2685+503del (n.2685+496_2685+503del) n.327+496_327+503del n.313+496_313+503del c.2493+496_2493+503del (n.2493+496_2493+503del) c.2895+496_2895+503del (n.2895+496_2895+503del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87530830_87530845del | CA575861916 | ABCB1 | c.2685+488_2685+503del (n.2685+488_2685+503del) n.327+488_327+503del n.313+488_313+503del c.2493+488_2493+503del (n.2493+488_2493+503del) c.2895+488_2895+503del (n.2895+488_2895+503del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87530822_87530845del | CA575861918 | ABCB1 | c.2685+480_2685+503del (n.2685+480_2685+503del) n.327+480_327+503del n.313+480_313+503del c.2493+480_2493+503del (n.2493+480_2493+503del) c.2895+480_2895+503del (n.2895+480_2895+503del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |