Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.3109288_3109327del | CA944146342 | TSPAN9 | c.-18+25569_-18+25608del (n.-18+25569_-18+25608del) c.-130+25569_-130+25608del (n.-130+25569_-130+25608del) c.-18+31835_-18+31874del (n.-18+31835_-18+31874del) c.-349+25569_-349+25608del (n.-349+25569_-349+25608del) | gnomAD v3 gnomAD v4 |
12 | g.3109284_3109327del | CA944146343 | TSPAN9 | c.-18+25565_-18+25608del (n.-18+25565_-18+25608del) c.-130+25565_-130+25608del (n.-130+25565_-130+25608del) c.-18+31831_-18+31874del (n.-18+31831_-18+31874del) c.-349+25565_-349+25608del (n.-349+25565_-349+25608del) | gnomAD v3 gnomAD v4 |
12 | g.3109280_3109327del | CA944146344 | TSPAN9 | c.-18+25561_-18+25608del (n.-18+25561_-18+25608del) c.-130+25561_-130+25608del (n.-130+25561_-130+25608del) c.-18+31827_-18+31874del (n.-18+31827_-18+31874del) c.-349+25561_-349+25608del (n.-349+25561_-349+25608del) | gnomAD v3 gnomAD v4 |
12 | g.3109290_3109327del | CA944146412 | TSPAN9 | c.-18+25571_-18+25608del (n.-18+25571_-18+25608del) c.-130+25571_-130+25608del (n.-130+25571_-130+25608del) c.-18+31837_-18+31874del (n.-18+31837_-18+31874del) c.-349+25571_-349+25608del (n.-349+25571_-349+25608del) | gnomAD v3 gnomAD v4 |
12 | g.3109292_3109327del | CA944146425 | TSPAN9 | c.-18+25573_-18+25608del (n.-18+25573_-18+25608del) c.-130+25573_-130+25608del (n.-130+25573_-130+25608del) c.-18+31839_-18+31874del (n.-18+31839_-18+31874del) c.-349+25573_-349+25608del (n.-349+25573_-349+25608del) | gnomAD v3 gnomAD v4 |
12 | g.3109294_3109327del | CA232006019 | TSPAN9 | c.-18+25575_-18+25608del (n.-18+25575_-18+25608del) c.-130+25575_-130+25608del (n.-130+25575_-130+25608del) c.-18+31841_-18+31874del (n.-18+31841_-18+31874del) c.-349+25575_-349+25608del (n.-349+25575_-349+25608del) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.3109296_3109327del | CA944146434 | TSPAN9 | c.-18+25577_-18+25608del (n.-18+25577_-18+25608del) c.-130+25577_-130+25608del (n.-130+25577_-130+25608del) c.-18+31843_-18+31874del (n.-18+31843_-18+31874del) c.-349+25577_-349+25608del (n.-349+25577_-349+25608del) | gnomAD v3 gnomAD v4 |
12 | g.3109298_3109327del | CA944146439 | TSPAN9 | c.-18+25579_-18+25608del (n.-18+25579_-18+25608del) c.-130+25579_-130+25608del (n.-130+25579_-130+25608del) c.-18+31845_-18+31874del (n.-18+31845_-18+31874del) c.-349+25579_-349+25608del (n.-349+25579_-349+25608del) | gnomAD v3 gnomAD v4 |
12 | g.3109300_3109327del | CA687272651 | TSPAN9 | c.-18+25581_-18+25608del (n.-18+25581_-18+25608del) c.-130+25581_-130+25608del (n.-130+25581_-130+25608del) c.-18+31847_-18+31874del (n.-18+31847_-18+31874del) c.-349+25581_-349+25608del (n.-349+25581_-349+25608del) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.3109280_3109328delinsGTGTGTGTGTGTGTGTGTGTGAGAGAGAGTGTGTGTGTGTGTGTGTGTT | CA2012557495 | TSPAN9 | c.-18+25561_-18+25609delinsGTGTGTGTGTGTGTGTGTGTGAGAGAGAGTGTGTGTGTGTGTGTGTGTT (n.-18+25561_-18+25609delinsGTGTGTGTGTGTGTGTGTGTGAGAGAGAGTGTGTGTGTGTGTGTGTGTT) c.-130+25561_-130+25609delinsGTGTGTGTGTGTGTGTGTGTGAGAGAGAGTGTGTGTGTGTGTGTGTGTT (n.-130+25561_-130+25609delinsGTGTGTGTGTGTGTGTGTGTGAGAGAGAGTGTGTGTGTGTGTGTGTGTT) c.-18+31827_-18+31875delinsGTGTGTGTGTGTGTGTGTGTGAGAGAGAGTGTGTGTGTGTGTGTGTGTT (n.-18+31827_-18+31875delinsGTGTGTGTGTGTGTGTGTGTGAGAGAGAGTGTGTGTGTGTGTGTGTGTT) c.-349+25561_-349+25609delinsGTGTGTGTGTGTGTGTGTGTGAGAGAGAGTGTGTGTGTGTGTGTGTGTT (n.-349+25561_-349+25609delinsGTGTGTGTGTGTGTGTGTGTGAGAGAGAGTGTGTGTGTGTGTGTGTGTT) | |
12 | g.3109290_3109337del | CA2012557499 | TSPAN9 | c.-18+25571_-18+25618del (n.-18+25571_-18+25618del) c.-130+25571_-130+25618del (n.-130+25571_-130+25618del) c.-18+31837_-18+31884del (n.-18+31837_-18+31884del) c.-349+25571_-349+25618del (n.-349+25571_-349+25618del) | dbSNP |
12 | g.3109301_3109326del | CA944146445 | TSPAN9 | c.-18+25582_-18+25607del (n.-18+25582_-18+25607del) c.-130+25582_-130+25607del (n.-130+25582_-130+25607del) c.-18+31848_-18+31873del (n.-18+31848_-18+31873del) c.-349+25582_-349+25607del (n.-349+25582_-349+25607del) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.3109301_3109324del | CA687272654 | TSPAN9 | c.-18+25582_-18+25605del (n.-18+25582_-18+25605del) c.-130+25582_-130+25605del (n.-130+25582_-130+25605del) c.-18+31848_-18+31871del (n.-18+31848_-18+31871del) c.-349+25582_-349+25605del (n.-349+25582_-349+25605del) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.3109301_3109322del | CA232006021 | TSPAN9 | c.-18+25582_-18+25603del (n.-18+25582_-18+25603del) c.-130+25582_-130+25603del (n.-130+25582_-130+25603del) c.-18+31848_-18+31869del (n.-18+31848_-18+31869del) c.-349+25582_-349+25603del (n.-349+25582_-349+25603del) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.3109301_3109320del | CA687272668 | TSPAN9 | c.-18+25582_-18+25601del (n.-18+25582_-18+25601del) c.-130+25582_-130+25601del (n.-130+25582_-130+25601del) c.-18+31848_-18+31867del (n.-18+31848_-18+31867del) c.-349+25582_-349+25601del (n.-349+25582_-349+25601del) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.3109301_3109318del | CA687272674 | TSPAN9 | c.-18+25582_-18+25599del (n.-18+25582_-18+25599del) c.-130+25582_-130+25599del (n.-130+25582_-130+25599del) c.-18+31848_-18+31865del (n.-18+31848_-18+31865del) c.-349+25582_-349+25599del (n.-349+25582_-349+25599del) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.3109290_3109328delinsGTGTGTGTGTGAGAGAGAGTGTGTGTGTGTGTGTGTGTT | CA2012557518 | TSPAN9 | c.-18+25571_-18+25609delinsGTGTGTGTGTGAGAGAGAGTGTGTGTGTGTGTGTGTGTT (n.-18+25571_-18+25609delinsGTGTGTGTGTGAGAGAGAGTGTGTGTGTGTGTGTGTGTT) c.-130+25571_-130+25609delinsGTGTGTGTGTGAGAGAGAGTGTGTGTGTGTGTGTGTGTT (n.-130+25571_-130+25609delinsGTGTGTGTGTGAGAGAGAGTGTGTGTGTGTGTGTGTGTT) c.-18+31837_-18+31875delinsGTGTGTGTGTGAGAGAGAGTGTGTGTGTGTGTGTGTGTT (n.-18+31837_-18+31875delinsGTGTGTGTGTGAGAGAGAGTGTGTGTGTGTGTGTGTGTT) c.-349+25571_-349+25609delinsGTGTGTGTGTGAGAGAGAGTGTGTGTGTGTGTGTGTGTT (n.-349+25571_-349+25609delinsGTGTGTGTGTGAGAGAGAGTGTGTGTGTGTGTGTGTGTT) | |
12 | g.3109300_3109337del | CA944146469 | TSPAN9 | c.-18+25581_-18+25618del (n.-18+25581_-18+25618del) c.-130+25581_-130+25618del (n.-130+25581_-130+25618del) c.-18+31847_-18+31884del (n.-18+31847_-18+31884del) c.-349+25581_-349+25618del (n.-349+25581_-349+25618del) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.3109326_3109327dup | CA687273138 | TSPAN9 | c.-18+25607_-18+25608dup (n.-18+25607_-18+25608dup) c.-130+25607_-130+25608dup (n.-130+25607_-130+25608dup) c.-18+31873_-18+31874dup (n.-18+31873_-18+31874dup) c.-349+25607_-349+25608dup (n.-349+25607_-349+25608dup) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.3109324_3109327dup | CA687273140 | TSPAN9 | c.-18+25605_-18+25608dup (n.-18+25605_-18+25608dup) c.-130+25605_-130+25608dup (n.-130+25605_-130+25608dup) c.-18+31871_-18+31874dup (n.-18+31871_-18+31874dup) c.-349+25605_-349+25608dup (n.-349+25605_-349+25608dup) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.3109322_3109327dup | CA687273141 | TSPAN9 | c.-18+25603_-18+25608dup (n.-18+25603_-18+25608dup) c.-130+25603_-130+25608dup (n.-130+25603_-130+25608dup) c.-18+31869_-18+31874dup (n.-18+31869_-18+31874dup) c.-349+25603_-349+25608dup (n.-349+25603_-349+25608dup) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.3109320_3109327dup | CA687273143 | TSPAN9 | c.-18+25601_-18+25608dup (n.-18+25601_-18+25608dup) c.-130+25601_-130+25608dup (n.-130+25601_-130+25608dup) c.-18+31867_-18+31874dup (n.-18+31867_-18+31874dup) c.-349+25601_-349+25608dup (n.-349+25601_-349+25608dup) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.3109318_3109327dup | CA944147003 | TSPAN9 | c.-18+25599_-18+25608dup (n.-18+25599_-18+25608dup) c.-130+25599_-130+25608dup (n.-130+25599_-130+25608dup) c.-18+31865_-18+31874dup (n.-18+31865_-18+31874dup) c.-349+25599_-349+25608dup (n.-349+25599_-349+25608dup) | gnomAD v3 gnomAD v4 |
12 | g.3109326_3109327del | CA687273155 | TSPAN9 | c.-18+25607_-18+25608del (n.-18+25607_-18+25608del) c.-130+25607_-130+25608del (n.-130+25607_-130+25608del) c.-18+31873_-18+31874del (n.-18+31873_-18+31874del) c.-349+25607_-349+25608del (n.-349+25607_-349+25608del) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.3109324_3109327del | CA687273159 | TSPAN9 | c.-18+25605_-18+25608del (n.-18+25605_-18+25608del) c.-130+25605_-130+25608del (n.-130+25605_-130+25608del) c.-18+31871_-18+31874del (n.-18+31871_-18+31874del) c.-349+25605_-349+25608del (n.-349+25605_-349+25608del) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.3109318_3109327del | CA687273161 | TSPAN9 | c.-18+25599_-18+25608del (n.-18+25599_-18+25608del) c.-130+25599_-130+25608del (n.-130+25599_-130+25608del) c.-18+31865_-18+31874del (n.-18+31865_-18+31874del) c.-349+25599_-349+25608del (n.-349+25599_-349+25608del) | dbSNP |
12 | g.3109318_3109319insAGAGTGTG | CA2012557575 | TSPAN9 | c.-18+25599_-18+25600insAGAGTGTG (n.-18+25599_-18+25600insAGAGTGTG) c.-130+25599_-130+25600insAGAGTGTG (n.-130+25599_-130+25600insAGAGTGTG) c.-18+31865_-18+31866insAGAGTGTG (n.-18+31865_-18+31866insAGAGTGTG) c.-349+25599_-349+25600insAGAGTGTG (n.-349+25599_-349+25600insAGAGTGTG) | dbSNP |
12 | g.3109320_3109321insAGAGTGTGTG | CA944147080 | TSPAN9 | c.-18+25601_-18+25602insAGAGTGTGTG (n.-18+25601_-18+25602insAGAGTGTGTG) c.-130+25601_-130+25602insAGAGTGTGTG (n.-130+25601_-130+25602insAGAGTGTGTG) c.-18+31867_-18+31868insAGAGTGTGTG (n.-18+31867_-18+31868insAGAGTGTGTG) c.-349+25601_-349+25602insAGAGTGTGTG (n.-349+25601_-349+25602insAGAGTGTGTG) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.3109318_3109319insCGTG | CA2012557580 | TSPAN9 | c.-18+25599_-18+25600insCGTG (n.-18+25599_-18+25600insCGTG) c.-130+25599_-130+25600insCGTG (n.-130+25599_-130+25600insCGTG) c.-18+31865_-18+31866insCGTG (n.-18+31865_-18+31866insCGTG) c.-349+25599_-349+25600insCGTG (n.-349+25599_-349+25600insCGTG) | dbSNP |
12 | g.3109318G= | CA2012557582 | TSPAN9 | c.-18+25599G= (n.-18+25599G=) c.-130+25599G= (n.-130+25599G=) c.-18+31865G= (n.-18+31865G=) c.-349+25599G= (n.-349+25599G=) | |
12 | g.3109318G>T | CA687273281 | TSPAN9 | c.-18+25599G>T (n.-18+25599G>T) c.-130+25599G>T (n.-130+25599G>T) c.-18+31865G>T (n.-18+31865G>T) c.-349+25599G>T (n.-349+25599G>T) | dbSNP |
12 | g.3109318_3109319insAGAG | CA944147083 | TSPAN9 | c.-18+25599_-18+25600insAGAG (n.-18+25599_-18+25600insAGAG) c.-130+25599_-130+25600insAGAG (n.-130+25599_-130+25600insAGAG) c.-18+31865_-18+31866insAGAG (n.-18+31865_-18+31866insAGAG) c.-349+25599_-349+25600insAGAG (n.-349+25599_-349+25600insAGAG) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.3109318_3109319insAGAGAGAG | CA602920865 | TSPAN9 | c.-18+25599_-18+25600insAGAGAGAG (n.-18+25599_-18+25600insAGAGAGAG) c.-130+25599_-130+25600insAGAGAGAG (n.-130+25599_-130+25600insAGAGAGAG) c.-18+31865_-18+31866insAGAGAGAG (n.-18+31865_-18+31866insAGAGAGAG) c.-349+25599_-349+25600insAGAGAGAG (n.-349+25599_-349+25600insAGAGAGAG) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.3109322_3109323insAGAGAGAGAGAGAGAGAGTGTG | CA944147090 | TSPAN9 | c.-18+25603_-18+25604insAGAGAGAGAGAGAGAGAGTGTG (n.-18+25603_-18+25604insAGAGAGAGAGAGAGAGAGTGTG) c.-130+25603_-130+25604insAGAGAGAGAGAGAGAGAGTGTG (n.-130+25603_-130+25604insAGAGAGAGAGAGAGAGAGTGTG) c.-18+31869_-18+31870insAGAGAGAGAGAGAGAGAGTGTG (n.-18+31869_-18+31870insAGAGAGAGAGAGAGAGAGTGTG) c.-349+25603_-349+25604insAGAGAGAGAGAGAGAGAGTGTG (n.-349+25603_-349+25604insAGAGAGAGAGAGAGAGAGTGTG) | gnomAD v3 gnomAD v4 |
12 | g.3109324_3109325insAGAGAGAGAGAGAGAGAGTGTGTG | CA944147094 | TSPAN9 | c.-18+25605_-18+25606insAGAGAGAGAGAGAGAGAGTGTGTG (n.-18+25605_-18+25606insAGAGAGAGAGAGAGAGAGTGTGTG) c.-130+25605_-130+25606insAGAGAGAGAGAGAGAGAGTGTGTG (n.-130+25605_-130+25606insAGAGAGAGAGAGAGAGAGTGTGTG) c.-18+31871_-18+31872insAGAGAGAGAGAGAGAGAGTGTGTG (n.-18+31871_-18+31872insAGAGAGAGAGAGAGAGAGTGTGTG) c.-349+25605_-349+25606insAGAGAGAGAGAGAGAGAGTGTGTG (n.-349+25605_-349+25606insAGAGAGAGAGAGAGAGAGTGTGTG) | gnomAD v3 gnomAD v4 |
12 | g.3109319T>A | CA602920867 | TSPAN9 | c.-18+25600T>A (n.-18+25600T>A) c.-130+25600T>A (n.-130+25600T>A) c.-18+31866T>A (n.-18+31866T>A) c.-349+25600T>A (n.-349+25600T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.3109319T= | CA2012557583 | TSPAN9 | c.-18+25600T= (n.-18+25600T=) c.-130+25600T= (n.-130+25600T=) c.-18+31866T= (n.-18+31866T=) c.-349+25600T= (n.-349+25600T=) | |
12 | g.3109321_3109322insTTGT | CA602920866 | TSPAN9 | c.-18+25602_-18+25603insTTGT (n.-18+25602_-18+25603insTTGT) c.-130+25602_-130+25603insTTGT (n.-130+25602_-130+25603insTTGT) c.-18+31868_-18+31869insTTGT (n.-18+31868_-18+31869insTTGT) c.-349+25602_-349+25603insTTGT (n.-349+25602_-349+25603insTTGT) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.3109328_3109337dup | CA2012557584 | TSPAN9 | c.-18+25609_-18+25618dup (n.-18+25609_-18+25618dup) c.-130+25609_-130+25618dup (n.-130+25609_-130+25618dup) c.-18+31875_-18+31884dup (n.-18+31875_-18+31884dup) c.-349+25609_-349+25618dup (n.-349+25609_-349+25618dup) | dbSNP |
12 | g.3109328_3109337del | CA2512781922 | TSPAN9 | c.-18+25609_-18+25618del (n.-18+25609_-18+25618del) c.-130+25609_-130+25618del (n.-130+25609_-130+25618del) c.-18+31875_-18+31884del (n.-18+31875_-18+31884del) c.-349+25609_-349+25618del (n.-349+25609_-349+25618del) | |
12 | g.3109320G>A | CA2012557586 | TSPAN9 | c.-18+25601G>A (n.-18+25601G>A) c.-130+25601G>A (n.-130+25601G>A) c.-18+31867G>A (n.-18+31867G>A) c.-349+25601G>A (n.-349+25601G>A) | dbSNP |
12 | g.3109320G= | CA2012557585 | TSPAN9 | c.-18+25601G= (n.-18+25601G=) c.-130+25601G= (n.-130+25601G=) c.-18+31867G= (n.-18+31867G=) c.-349+25601G= (n.-349+25601G=) | |
12 | g.3109320_3109321insAGAGAGAGAGAGAGAGAGAG | CA944147099 | TSPAN9 | c.-18+25601_-18+25602insAGAGAGAGAGAGAGAGAGAG (n.-18+25601_-18+25602insAGAGAGAGAGAGAGAGAGAG) c.-130+25601_-130+25602insAGAGAGAGAGAGAGAGAGAG (n.-130+25601_-130+25602insAGAGAGAGAGAGAGAGAGAG) c.-18+31867_-18+31868insAGAGAGAGAGAGAGAGAGAG (n.-18+31867_-18+31868insAGAGAGAGAGAGAGAGAGAG) c.-349+25601_-349+25602insAGAGAGAGAGAGAGAGAGAG (n.-349+25601_-349+25602insAGAGAGAGAGAGAGAGAGAG) | |
12 | g.3109322_3109323insAGAGAGAGAGAGAGAGAGAGTG | CA944147103 | TSPAN9 | c.-18+25603_-18+25604insAGAGAGAGAGAGAGAGAGAGTG (n.-18+25603_-18+25604insAGAGAGAGAGAGAGAGAGAGTG) c.-130+25603_-130+25604insAGAGAGAGAGAGAGAGAGAGTG (n.-130+25603_-130+25604insAGAGAGAGAGAGAGAGAGAGTG) c.-18+31869_-18+31870insAGAGAGAGAGAGAGAGAGAGTG (n.-18+31869_-18+31870insAGAGAGAGAGAGAGAGAGAGTG) c.-349+25603_-349+25604insAGAGAGAGAGAGAGAGAGAGTG (n.-349+25603_-349+25604insAGAGAGAGAGAGAGAGAGAGTG) | gnomAD v3 gnomAD v4 |
12 | g.3109321T>A | CA687273288 | TSPAN9 | c.-18+25602T>A (n.-18+25602T>A) c.-130+25602T>A (n.-130+25602T>A) c.-18+31868T>A (n.-18+31868T>A) c.-349+25602T>A (n.-349+25602T>A) | dbSNP |
12 | g.3109321T>G | CA944147104 | TSPAN9 | c.-18+25602T>G (n.-18+25602T>G) c.-130+25602T>G (n.-130+25602T>G) c.-18+31868T>G (n.-18+31868T>G) c.-349+25602T>G (n.-349+25602T>G) | gnomAD v3 gnomAD v4 |
12 | g.3109321T= | CA2012557587 | TSPAN9 | c.-18+25602T= (n.-18+25602T=) c.-130+25602T= (n.-130+25602T=) c.-18+31868T= (n.-18+31868T=) c.-349+25602T= (n.-349+25602T=) | |
12 | g.3109322G>A | CA2012557589 | TSPAN9 | c.-18+25603G>A (n.-18+25603G>A) c.-130+25603G>A (n.-130+25603G>A) c.-18+31869G>A (n.-18+31869G>A) c.-349+25603G>A (n.-349+25603G>A) | dbSNP |
12 | g.3109322G= | CA2012557588 | TSPAN9 | c.-18+25603G= (n.-18+25603G=) c.-130+25603G= (n.-130+25603G=) c.-18+31869G= (n.-18+31869G=) c.-349+25603G= (n.-349+25603G=) | |
12 | g.3109323T>A | CA687273289 | TSPAN9 | c.-18+25604T>A (n.-18+25604T>A) c.-130+25604T>A (n.-130+25604T>A) c.-18+31870T>A (n.-18+31870T>A) c.-349+25604T>A (n.-349+25604T>A) | dbSNP |