Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.196318052_196318053delinsAC | CA1431592956 | DYNLT2B,TM4SF19-DYNLT2B | c.100_101delinsGT (p.Val34=) c.*74-1822_*74-1821delinsGT (n.*74-1822_*74-1821delinsGT) n.862-1822_862-1821delinsGT | |
3 | g.196318053C>A | CA355590346 | DYNLT2B,TM4SF19-DYNLT2B | c.100G>T (p.Val34Phe) c.*74-1822G>T (n.*74-1822G>T) n.862-1822G>T | gnomAD v4 |
3 | g.196318053C= | CA1431592957 | DYNLT2B,TM4SF19-DYNLT2B | c.100G= (p.Val34=) c.*74-1822G= (n.*74-1822G=) n.862-1822G= | |
3 | g.196318053C>G | CA355590365 | DYNLT2B,TM4SF19-DYNLT2B | c.100G>C (p.Val34Leu) c.*74-1822G>C (n.*74-1822G>C) n.862-1822G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.196318053C>T | CA2779832 | DYNLT2B,TM4SF19-DYNLT2B | c.100G>A (p.Val34Ile) c.*74-1822G>A (n.*74-1822G>A) n.862-1822G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.196318053delinsAG | CA16616879 | DYNLT2B,TM4SF19-DYNLT2B | c.100delinsCT (p.Val34LeufsTer12) c.100delinsCT (p.Val34LeufsTer?) c.*74-1822delinsCT (n.*74-1822delinsCT) n.862-1822delinsCT | ClinVar dbSNP |
3 | g.196318054A>C | CA437775703 | DYNLT2B,TM4SF19-DYNLT2B | c.99T>G (p.Pro33=) c.*74-1823T>G (n.*74-1823T>G) n.862-1823T>G | gnomAD v4 |
3 | g.196318054A>G | CA437775704 | DYNLT2B,TM4SF19-DYNLT2B | c.99T>C (p.Pro33=) c.*74-1823T>C (n.*74-1823T>C) n.862-1823T>C | gnomAD v4 |
3 | g.196318054A>T | CA437775705 | DYNLT2B,TM4SF19-DYNLT2B | c.99T>A (p.Pro33=) c.*74-1823T>A (n.*74-1823T>A) n.862-1823T>A | gnomAD v4 |
3 | g.196318055G>A | CA355590368 | DYNLT2B,TM4SF19-DYNLT2B | c.98C>T (p.Pro33Leu) c.*74-1824C>T (n.*74-1824C>T) n.862-1824C>T | gnomAD v4 |
3 | g.196318055G>C | CA355590370 | DYNLT2B,TM4SF19-DYNLT2B | c.98C>G (p.Pro33Arg) c.*74-1824C>G (n.*74-1824C>G) n.862-1824C>G | |
3 | g.196318055G>T | CA355590369 | DYNLT2B,TM4SF19-DYNLT2B | c.98C>A (p.Pro33His) c.*74-1824C>A (n.*74-1824C>A) n.862-1824C>A | gnomAD v4 |
3 | g.196318056G>A | CA355590371 | DYNLT2B,TM4SF19-DYNLT2B | c.97C>T (p.Pro33Ser) c.*74-1825C>T (n.*74-1825C>T) n.862-1825C>T | gnomAD v4 |
3 | g.196318056G>C | CA355590374 | DYNLT2B,TM4SF19-DYNLT2B | c.97C>G (p.Pro33Ala) c.*74-1825C>G (n.*74-1825C>G) n.862-1825C>G | gnomAD v4 |
3 | g.196318056G>T | CA355590373 | DYNLT2B,TM4SF19-DYNLT2B | c.97C>A (p.Pro33Thr) c.*74-1825C>A (n.*74-1825C>A) n.862-1825C>A | gnomAD v4 |
3 | g.196318057C>A | CA437775707 | DYNLT2B,TM4SF19-DYNLT2B | c.96G>T (p.Arg32=) c.*74-1826G>T (n.*74-1826G>T) n.862-1826G>T | gnomAD v4 |
3 | g.196318057C= | CA1431592958 | DYNLT2B,TM4SF19-DYNLT2B | c.96G= (p.Arg32=) c.*74-1826G= (n.*74-1826G=) n.862-1826G= | |
3 | g.196318057C>G | CA437775708 | DYNLT2B,TM4SF19-DYNLT2B | c.96G>C (p.Arg32=) c.*74-1826G>C (n.*74-1826G>C) n.862-1826G>C | dbSNP |
3 | g.196318057C>T | CA437775709 | DYNLT2B,TM4SF19-DYNLT2B | c.96G>A (p.Arg32=) c.*74-1826G>A (n.*74-1826G>A) n.862-1826G>A | gnomAD v4 |
3 | g.196318058C>A | CA355590383 | DYNLT2B,TM4SF19-DYNLT2B | c.95G>T (p.Arg32Leu) c.*74-1827G>T (n.*74-1827G>T) n.862-1827G>T | dbSNP gnomAD v4 |
3 | g.196318058C>G | CA355590388 | DYNLT2B,TM4SF19-DYNLT2B | c.95G>C (p.Arg32Pro) c.*74-1827G>C (n.*74-1827G>C) n.862-1827G>C | |
3 | g.196318058C>T | CA355590385 | DYNLT2B,TM4SF19-DYNLT2B | c.95G>A (p.Arg32Gln) c.*74-1827G>A (n.*74-1827G>A) n.862-1827G>A | gnomAD v4 |
3 | g.196318059G>A | CA355590391 | DYNLT2B,TM4SF19-DYNLT2B | c.94C>T (p.Arg32Trp) c.*74-1828C>T (n.*74-1828C>T) n.862-1828C>T | gnomAD v4 |
3 | g.196318059G>C | CA355590397 | DYNLT2B,TM4SF19-DYNLT2B | c.94C>G (p.Arg32Gly) c.*74-1828C>G (n.*74-1828C>G) n.862-1828C>G | gnomAD v4 |
3 | g.196318059G>T | CA437775712 | DYNLT2B,TM4SF19-DYNLT2B | c.94C>A (p.Arg32=) c.*74-1828C>A (n.*74-1828C>A) n.862-1828C>A | gnomAD v4 |
3 | g.196318060C>A | CA437775713 | DYNLT2B,TM4SF19-DYNLT2B | c.93G>T (p.Leu31=) c.*74-1829G>T (n.*74-1829G>T) n.862-1829G>T | gnomAD v4 |
3 | g.196318060C>G | CA437775714 | DYNLT2B,TM4SF19-DYNLT2B | c.93G>C (p.Leu31=) c.*74-1829G>C (n.*74-1829G>C) n.862-1829G>C | gnomAD v4 |
3 | g.196318060C>T | CA437775715 | DYNLT2B,TM4SF19-DYNLT2B | c.93G>A (p.Leu31=) c.*74-1829G>A (n.*74-1829G>A) n.862-1829G>A | gnomAD v4 |
3 | g.196318061A>C | CA355590399 | DYNLT2B,TM4SF19-DYNLT2B | c.92T>G (p.Leu31Arg) c.*74-1830T>G (n.*74-1830T>G) n.862-1830T>G | gnomAD v4 |
3 | g.196318061A>G | CA355590401 | DYNLT2B,TM4SF19-DYNLT2B | c.92T>C (p.Leu31Pro) c.*74-1830T>C (n.*74-1830T>C) n.862-1830T>C | gnomAD v4 |
3 | g.196318061A>T | CA355590404 | DYNLT2B,TM4SF19-DYNLT2B | c.92T>A (p.Leu31Gln) c.*74-1830T>A (n.*74-1830T>A) n.862-1830T>A | gnomAD v4 |
3 | g.196318062G>A | CA437775718 | DYNLT2B,TM4SF19-DYNLT2B | c.91C>T (p.Leu31=) c.*74-1831C>T (n.*74-1831C>T) n.862-1831C>T | gnomAD v4 |
3 | g.196318062G>C | CA355590406 | DYNLT2B,TM4SF19-DYNLT2B | c.91C>G (p.Leu31Val) c.*74-1831C>G (n.*74-1831C>G) n.862-1831C>G | |
3 | g.196318062G>T | CA355590409 | DYNLT2B,TM4SF19-DYNLT2B | c.91C>A (p.Leu31Met) c.*74-1831C>A (n.*74-1831C>A) n.862-1831C>A | gnomAD v4 |
3 | g.196318063A>C | CA355590411 | DYNLT2B,TM4SF19-DYNLT2B | c.90T>G (p.Ile30Met) c.*74-1832T>G (n.*74-1832T>G) n.862-1832T>G | |
3 | g.196318063A>G | CA437775720 | DYNLT2B,TM4SF19-DYNLT2B | c.90T>C (p.Ile30=) c.*74-1832T>C (n.*74-1832T>C) n.862-1832T>C | gnomAD v4 |
3 | g.196318063A>T | CA437775721 | DYNLT2B,TM4SF19-DYNLT2B | c.90T>A (p.Ile30=) c.*74-1832T>A (n.*74-1832T>A) n.862-1832T>A | |
3 | g.196318064A>C | CA355590414 | DYNLT2B,TM4SF19-DYNLT2B | c.89T>G (p.Ile30Ser) c.*74-1833T>G (n.*74-1833T>G) n.862-1833T>G | gnomAD v4 |
3 | g.196318064A>G | CA355590415 | DYNLT2B,TM4SF19-DYNLT2B | c.89T>C (p.Ile30Thr) c.*74-1833T>C (n.*74-1833T>C) n.862-1833T>C | |
3 | g.196318064A>T | CA355590417 | DYNLT2B,TM4SF19-DYNLT2B | c.89T>A (p.Ile30Asn) c.*74-1833T>A (n.*74-1833T>A) n.862-1833T>A | |
3 | g.196318065T>A | CA355590420 | DYNLT2B,TM4SF19-DYNLT2B | c.88A>T (p.Ile30Phe) c.*74-1834A>T (n.*74-1834A>T) n.862-1834A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.196318065T>C | CA355590424 | DYNLT2B,TM4SF19-DYNLT2B | c.88A>G (p.Ile30Val) c.*74-1834A>G (n.*74-1834A>G) n.862-1834A>G | gnomAD v4 |
3 | g.196318065T>G | CA355590422 | DYNLT2B,TM4SF19-DYNLT2B | c.88A>C (p.Ile30Leu) c.*74-1834A>C (n.*74-1834A>C) n.862-1834A>C | |
3 | g.196318065T= | CA1431592959 | DYNLT2B,TM4SF19-DYNLT2B | c.88A= (p.Ile30=) c.*74-1834A= (n.*74-1834A=) n.862-1834A= | |
3 | g.196318066A>C | CA355590428 | DYNLT2B,TM4SF19-DYNLT2B | c.87T>G (p.Tyr29Ter) c.*74-1835T>G (n.*74-1835T>G) n.862-1835T>G | |
3 | g.196318066A>G | CA437775724 | DYNLT2B,TM4SF19-DYNLT2B | c.87T>C (p.Tyr29=) c.*74-1835T>C (n.*74-1835T>C) n.862-1835T>C | gnomAD v4 |
3 | g.196318066A>T | CA355590430 | DYNLT2B,TM4SF19-DYNLT2B | c.87T>A (p.Tyr29Ter) c.*74-1835T>A (n.*74-1835T>A) n.862-1835T>A | |
3 | g.196318067T>A | CA355590433 | DYNLT2B,TM4SF19-DYNLT2B | c.86A>T (p.Tyr29Phe) c.*74-1836A>T (n.*74-1836A>T) n.862-1836A>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.196318067T>C | CA355590436 | DYNLT2B,TM4SF19-DYNLT2B | c.86A>G (p.Tyr29Cys) c.*74-1836A>G (n.*74-1836A>G) n.862-1836A>G | gnomAD v4 |
3 | g.196318067T>G | CA355590440 | DYNLT2B,TM4SF19-DYNLT2B | c.86A>C (p.Tyr29Ser) c.*74-1836A>C (n.*74-1836A>C) n.862-1836A>C |