| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.128618052G>A | CA5265496 | SPTAN1 | c.5580G>A (p.Gln1860=) c.5544G>A (p.Gln1848=) c.5007G>A (p.Gln1669=) c.3167G>A c.1154G>A n.772G>A c.5469G>A (p.Gln1823=) c.5529G>A (p.Gln1843=) c.5484G>A (p.Gln1828=) c.5565G>A (p.Gln1855=) c.5520G>A (p.Gln1840=) c.5505G>A (p.Gln1835=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128618052G>C | CA375077145 | SPTAN1 | c.5580G>C (p.Gln1860His) c.5544G>C (p.Gln1848His) c.5007G>C (p.Gln1669His) c.3167G>C c.1154G>C n.772G>C c.5469G>C (p.Gln1823His) c.5529G>C (p.Gln1843His) c.5484G>C (p.Gln1828His) c.5565G>C (p.Gln1855His) c.5520G>C (p.Gln1840His) c.5505G>C (p.Gln1835His) | |
| 9 | g.128618052G= | CA1880364345 | SPTAN1 | c.5580G= (p.Gln1860=) c.5544G= (p.Gln1848=) c.5007G= (p.Gln1669=) c.3167G= c.1154G= n.772G= c.5469G= (p.Gln1823=) c.5529G= (p.Gln1843=) c.5484G= (p.Gln1828=) c.5565G= (p.Gln1855=) c.5520G= (p.Gln1840=) c.5505G= (p.Gln1835=) | |
| 9 | g.128618052G>T | CA375077148 | SPTAN1 | c.5580G>T (p.Gln1860His) c.5544G>T (p.Gln1848His) c.5007G>T (p.Gln1669His) c.3167G>T c.1154G>T n.772G>T c.5469G>T (p.Gln1823His) c.5529G>T (p.Gln1843His) c.5484G>T (p.Gln1828His) c.5565G>T (p.Gln1855His) c.5520G>T (p.Gln1840His) c.5505G>T (p.Gln1835His) | |
| 9 | g.128618053C>A | CA467303953 | SPTAN1 | c.5581C>A (p.Arg1861=) c.5545C>A (p.Arg1849=) c.5008C>A (p.Arg1670=) c.3168C>A c.1155C>A n.773C>A c.5470C>A (p.Arg1824=) c.5530C>A (p.Arg1844=) c.5485C>A (p.Arg1829=) c.5566C>A (p.Arg1856=) c.5521C>A (p.Arg1841=) c.5506C>A (p.Arg1836=) | |
| 9 | g.128618053C= | CA1880364346 | SPTAN1 | c.5581C= (p.Arg1861=) c.5545C= (p.Arg1849=) c.5008C= (p.Arg1670=) c.3168C= c.1155C= n.773C= c.5470C= (p.Arg1824=) c.5530C= (p.Arg1844=) c.5485C= (p.Arg1829=) c.5566C= (p.Arg1856=) c.5521C= (p.Arg1841=) c.5506C= (p.Arg1836=) | |
| 9 | g.128618053C>G | CA375077152 | SPTAN1 | c.5581C>G (p.Arg1861Gly) c.5545C>G (p.Arg1849Gly) c.5008C>G (p.Arg1670Gly) c.3168C>G c.1155C>G n.773C>G c.5470C>G (p.Arg1824Gly) c.5530C>G (p.Arg1844Gly) c.5485C>G (p.Arg1829Gly) c.5566C>G (p.Arg1856Gly) c.5521C>G (p.Arg1841Gly) c.5506C>G (p.Arg1836Gly) | |
| 9 | g.128618053C>T | CA318780 | SPTAN1 | c.5581C>T (p.Arg1861Trp) c.5545C>T (p.Arg1849Trp) c.5008C>T (p.Arg1670Trp) c.3168C>T c.1155C>T n.773C>T c.5470C>T (p.Arg1824Trp) c.5530C>T (p.Arg1844Trp) c.5485C>T (p.Arg1829Trp) c.5566C>T (p.Arg1856Trp) c.5521C>T (p.Arg1841Trp) c.5506C>T (p.Arg1836Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128618054G>A | CA5265497 | SPTAN1 | c.5582G>A (p.Arg1861Gln) c.5546G>A (p.Arg1849Gln) c.5009G>A (p.Arg1670Gln) c.3169G>A c.1156G>A n.774G>A c.5471G>A (p.Arg1824Gln) c.5531G>A (p.Arg1844Gln) c.5486G>A (p.Arg1829Gln) c.5567G>A (p.Arg1856Gln) c.5522G>A (p.Arg1841Gln) c.5507G>A (p.Arg1836Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128618054G>C | CA375077157 | SPTAN1 | c.5582G>C (p.Arg1861Pro) c.5546G>C (p.Arg1849Pro) c.5009G>C (p.Arg1670Pro) c.3169G>C c.1156G>C n.774G>C c.5471G>C (p.Arg1824Pro) c.5531G>C (p.Arg1844Pro) c.5486G>C (p.Arg1829Pro) c.5567G>C (p.Arg1856Pro) c.5522G>C (p.Arg1841Pro) c.5507G>C (p.Arg1836Pro) | |
| 9 | g.128618054G= | CA1880364347 | SPTAN1 | c.5582G= (p.Arg1861=) c.5546G= (p.Arg1849=) c.5009G= (p.Arg1670=) c.3169G= c.1156G= n.774G= c.5471G= (p.Arg1824=) c.5531G= (p.Arg1844=) c.5486G= (p.Arg1829=) c.5567G= (p.Arg1856=) c.5522G= (p.Arg1841=) c.5507G= (p.Arg1836=) | |
| 9 | g.128618054G>T | CA375077155 | SPTAN1 | c.5582G>T (p.Arg1861Leu) c.5546G>T (p.Arg1849Leu) c.5009G>T (p.Arg1670Leu) c.3169G>T c.1156G>T n.774G>T c.5471G>T (p.Arg1824Leu) c.5531G>T (p.Arg1844Leu) c.5486G>T (p.Arg1829Leu) c.5567G>T (p.Arg1856Leu) c.5522G>T (p.Arg1841Leu) c.5507G>T (p.Arg1836Leu) | |
| 9 | g.128618055G>A | CA467303954 | SPTAN1 | c.5583G>A (p.Arg1861=) c.5547G>A (p.Arg1849=) c.5010G>A (p.Arg1670=) c.3170G>A c.1157G>A n.775G>A c.5472G>A (p.Arg1824=) c.5532G>A (p.Arg1844=) c.5487G>A (p.Arg1829=) c.5568G>A (p.Arg1856=) c.5523G>A (p.Arg1841=) c.5508G>A (p.Arg1836=) | |
| 9 | g.128618055G>C | CA467303955 | SPTAN1 | c.5583G>C (p.Arg1861=) c.5547G>C (p.Arg1849=) c.5010G>C (p.Arg1670=) c.3170G>C c.1157G>C n.775G>C c.5472G>C (p.Arg1824=) c.5532G>C (p.Arg1844=) c.5487G>C (p.Arg1829=) c.5568G>C (p.Arg1856=) c.5523G>C (p.Arg1841=) c.5508G>C (p.Arg1836=) | |
| 9 | g.128618055G= | CA1880364348 | SPTAN1 | c.5583G= (p.Arg1861=) c.5547G= (p.Arg1849=) c.5010G= (p.Arg1670=) c.3170G= c.1157G= n.775G= c.5472G= (p.Arg1824=) c.5532G= (p.Arg1844=) c.5487G= (p.Arg1829=) c.5568G= (p.Arg1856=) c.5523G= (p.Arg1841=) c.5508G= (p.Arg1836=) | |
| 9 | g.128618055G>T | CA467303956 | SPTAN1 | c.5583G>T (p.Arg1861=) c.5547G>T (p.Arg1849=) c.5010G>T (p.Arg1670=) c.3170G>T c.1157G>T n.775G>T c.5472G>T (p.Arg1824=) c.5532G>T (p.Arg1844=) c.5487G>T (p.Arg1829=) c.5568G>T (p.Arg1856=) c.5523G>T (p.Arg1841=) c.5508G>T (p.Arg1836=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128618056C>A | CA375077159 | SPTAN1 | c.5584C>A (p.Leu1862Met) c.5548C>A (p.Leu1850Met) c.5011C>A (p.Leu1671Met) c.3171C>A c.1158C>A n.776C>A c.5473C>A (p.Leu1825Met) c.5533C>A (p.Leu1845Met) c.5488C>A (p.Leu1830Met) c.5569C>A (p.Leu1857Met) c.5524C>A (p.Leu1842Met) c.5509C>A (p.Leu1837Met) | |
| 9 | g.128618056C>G | CA375077162 | SPTAN1 | c.5584C>G (p.Leu1862Val) c.5548C>G (p.Leu1850Val) c.5011C>G (p.Leu1671Val) c.3171C>G c.1158C>G n.776C>G c.5473C>G (p.Leu1825Val) c.5533C>G (p.Leu1845Val) c.5488C>G (p.Leu1830Val) c.5569C>G (p.Leu1857Val) c.5524C>G (p.Leu1842Val) c.5509C>G (p.Leu1837Val) | |
| 9 | g.128618056C>T | CA467303957 | SPTAN1 | c.5584C>T (p.Leu1862=) c.5548C>T (p.Leu1850=) c.5011C>T (p.Leu1671=) c.3171C>T c.1158C>T n.776C>T c.5473C>T (p.Leu1825=) c.5533C>T (p.Leu1845=) c.5488C>T (p.Leu1830=) c.5569C>T (p.Leu1857=) c.5524C>T (p.Leu1842=) c.5509C>T (p.Leu1837=) | |
| 9 | g.128618057T>A | CA375077163 | SPTAN1 | c.5585T>A (p.Leu1862Gln) c.5549T>A (p.Leu1850Gln) c.5012T>A (p.Leu1671Gln) c.3172T>A c.1159T>A n.777T>A c.5474T>A (p.Leu1825Gln) c.5534T>A (p.Leu1845Gln) c.5489T>A (p.Leu1830Gln) c.5570T>A (p.Leu1857Gln) c.5525T>A (p.Leu1842Gln) c.5510T>A (p.Leu1837Gln) | |
| 9 | g.128618057T>C | CA375077166 | SPTAN1 | c.5585T>C (p.Leu1862Pro) c.5549T>C (p.Leu1850Pro) c.5012T>C (p.Leu1671Pro) c.3172T>C c.1159T>C n.777T>C c.5474T>C (p.Leu1825Pro) c.5534T>C (p.Leu1845Pro) c.5489T>C (p.Leu1830Pro) c.5570T>C (p.Leu1857Pro) c.5525T>C (p.Leu1842Pro) c.5510T>C (p.Leu1837Pro) | |
| 9 | g.128618057T>G | CA375077169 | SPTAN1 | c.5585T>G (p.Leu1862Arg) c.5549T>G (p.Leu1850Arg) c.5012T>G (p.Leu1671Arg) c.3172T>G c.1159T>G n.777T>G c.5474T>G (p.Leu1825Arg) c.5534T>G (p.Leu1845Arg) c.5489T>G (p.Leu1830Arg) c.5570T>G (p.Leu1857Arg) c.5525T>G (p.Leu1842Arg) c.5510T>G (p.Leu1837Arg) | |
| 9 | g.128618058G>A | CA467303958 | SPTAN1 | c.5586G>A (p.Leu1862=) c.5550G>A (p.Leu1850=) c.5013G>A (p.Leu1671=) c.3173G>A c.1160G>A n.778G>A c.5475G>A (p.Leu1825=) c.5535G>A (p.Leu1845=) c.5490G>A (p.Leu1830=) c.5571G>A (p.Leu1857=) c.5526G>A (p.Leu1842=) c.5511G>A (p.Leu1837=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.128618058G>C | CA467303959 | SPTAN1 | c.5586G>C (p.Leu1862=) c.5550G>C (p.Leu1850=) c.5013G>C (p.Leu1671=) c.3173G>C c.1160G>C n.778G>C c.5475G>C (p.Leu1825=) c.5535G>C (p.Leu1845=) c.5490G>C (p.Leu1830=) c.5571G>C (p.Leu1857=) c.5526G>C (p.Leu1842=) c.5511G>C (p.Leu1837=) | |
| 9 | g.128618058G= | CA1880364349 | SPTAN1 | c.5586G= (p.Leu1862=) c.5550G= (p.Leu1850=) c.5013G= (p.Leu1671=) c.3173G= c.1160G= n.778G= c.5475G= (p.Leu1825=) c.5535G= (p.Leu1845=) c.5490G= (p.Leu1830=) c.5571G= (p.Leu1857=) c.5526G= (p.Leu1842=) c.5511G= (p.Leu1837=) | |
| 9 | g.128618058G>T | CA467303960 | SPTAN1 | c.5586G>T (p.Leu1862=) c.5550G>T (p.Leu1850=) c.5013G>T (p.Leu1671=) c.3173G>T c.1160G>T n.778G>T c.5475G>T (p.Leu1825=) c.5535G>T (p.Leu1845=) c.5490G>T (p.Leu1830=) c.5571G>T (p.Leu1857=) c.5526G>T (p.Leu1842=) c.5511G>T (p.Leu1837=) | |
| 9 | g.128618059G>A | CA375077173 | SPTAN1 | c.5587G>A (p.Ala1863Thr) c.5551G>A (p.Ala1851Thr) c.5014G>A (p.Ala1672Thr) c.3174G>A c.1161G>A n.779G>A c.5476G>A (p.Ala1826Thr) c.5536G>A (p.Ala1846Thr) c.5491G>A (p.Ala1831Thr) c.5572G>A (p.Ala1858Thr) c.5527G>A (p.Ala1843Thr) c.5512G>A (p.Ala1838Thr) | dbSNP |
| 9 | g.128618059G>C | CA375077177 | SPTAN1 | c.5587G>C (p.Ala1863Pro) c.5551G>C (p.Ala1851Pro) c.5014G>C (p.Ala1672Pro) c.3174G>C c.1161G>C n.779G>C c.5476G>C (p.Ala1826Pro) c.5536G>C (p.Ala1846Pro) c.5491G>C (p.Ala1831Pro) c.5572G>C (p.Ala1858Pro) c.5527G>C (p.Ala1843Pro) c.5512G>C (p.Ala1838Pro) | |
| 9 | g.128618059G= | CA1880364350 | SPTAN1 | c.5587G= (p.Ala1863=) c.5551G= (p.Ala1851=) c.5014G= (p.Ala1672=) c.3174G= c.1161G= n.779G= c.5476G= (p.Ala1826=) c.5536G= (p.Ala1846=) c.5491G= (p.Ala1831=) c.5572G= (p.Ala1858=) c.5527G= (p.Ala1843=) c.5512G= (p.Ala1838=) | |
| 9 | g.128618059G>T | CA375077175 | SPTAN1 | c.5587G>T (p.Ala1863Ser) c.5551G>T (p.Ala1851Ser) c.5014G>T (p.Ala1672Ser) c.3174G>T c.1161G>T n.779G>T c.5476G>T (p.Ala1826Ser) c.5536G>T (p.Ala1846Ser) c.5491G>T (p.Ala1831Ser) c.5572G>T (p.Ala1858Ser) c.5527G>T (p.Ala1843Ser) c.5512G>T (p.Ala1838Ser) | |
| 9 | g.128618060C>A | CA375077180 | SPTAN1 | c.5588C>A (p.Ala1863Glu) c.5552C>A (p.Ala1851Glu) c.5015C>A (p.Ala1672Glu) c.3175C>A c.1162C>A n.780C>A c.5477C>A (p.Ala1826Glu) c.5537C>A (p.Ala1846Glu) c.5492C>A (p.Ala1831Glu) c.5573C>A (p.Ala1858Glu) c.5528C>A (p.Ala1843Glu) c.5513C>A (p.Ala1838Glu) | |
| 9 | g.128618060C= | CA1880364352 | SPTAN1 | c.5588C= (p.Ala1863=) c.5552C= (p.Ala1851=) c.5015C= (p.Ala1672=) c.3175C= c.1162C= n.780C= c.5477C= (p.Ala1826=) c.5537C= (p.Ala1846=) c.5492C= (p.Ala1831=) c.5573C= (p.Ala1858=) c.5528C= (p.Ala1843=) c.5513C= (p.Ala1838=) | |
| 9 | g.128618060C>G | CA5265498 | SPTAN1 | c.5588C>G (p.Ala1863Gly) c.5552C>G (p.Ala1851Gly) c.5015C>G (p.Ala1672Gly) c.3175C>G c.1162C>G n.780C>G c.5477C>G (p.Ala1826Gly) c.5537C>G (p.Ala1846Gly) c.5492C>G (p.Ala1831Gly) c.5573C>G (p.Ala1858Gly) c.5528C>G (p.Ala1843Gly) c.5513C>G (p.Ala1838Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.128618060C>T | CA173582 | SPTAN1 | c.5588C>T (p.Ala1863Val) c.5552C>T (p.Ala1851Val) c.5015C>T (p.Ala1672Val) c.3175C>T c.1162C>T n.780C>T c.5477C>T (p.Ala1826Val) c.5537C>T (p.Ala1846Val) c.5492C>T (p.Ala1831Val) c.5573C>T (p.Ala1858Val) c.5528C>T (p.Ala1843Val) c.5513C>T (p.Ala1838Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128618060_128618069dup | CA1880364351 | SPTAN1 | c.5588_5597dup (p.Glu1867AlafsTer?) c.5552_5561dup (p.Glu1855AlafsTer?) c.5015_5024dup (p.Glu1676AlafsTer?) c.3175_3184dup c.1162_1171dup n.780_789dup c.5477_5486dup (p.Glu1830AlafsTer?) c.5537_5546dup (p.Glu1850AlafsTer?) c.5492_5501dup (p.Glu1835AlafsTer?) c.5573_5582dup (p.Glu1862AlafsTer?) c.5528_5537dup (p.Glu1847AlafsTer?) c.5513_5522dup (p.Glu1842AlafsTer?) | dbSNP |
| 9 | g.128618061G>A | CA5265499 | SPTAN1 | c.5589G>A (p.Ala1863=) c.5553G>A (p.Ala1851=) c.5016G>A (p.Ala1672=) c.3176G>A c.1163G>A n.781G>A c.5478G>A (p.Ala1826=) c.5538G>A (p.Ala1846=) c.5493G>A (p.Ala1831=) c.5574G>A (p.Ala1858=) c.5529G>A (p.Ala1843=) c.5514G>A (p.Ala1838=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128618061G>C | CA467303962 | SPTAN1 | c.5589G>C (p.Ala1863=) c.5553G>C (p.Ala1851=) c.5016G>C (p.Ala1672=) c.3176G>C c.1163G>C n.781G>C c.5478G>C (p.Ala1826=) c.5538G>C (p.Ala1846=) c.5493G>C (p.Ala1831=) c.5574G>C (p.Ala1858=) c.5529G>C (p.Ala1843=) c.5514G>C (p.Ala1838=) | |
| 9 | g.128618061G= | CA1880364353 | SPTAN1 | c.5589G= (p.Ala1863=) c.5553G= (p.Ala1851=) c.5016G= (p.Ala1672=) c.3176G= c.1163G= n.781G= c.5478G= (p.Ala1826=) c.5538G= (p.Ala1846=) c.5493G= (p.Ala1831=) c.5574G= (p.Ala1858=) c.5529G= (p.Ala1843=) c.5514G= (p.Ala1838=) | |
| 9 | g.128618061G>T | CA467303963 | SPTAN1 | c.5589G>T (p.Ala1863=) c.5553G>T (p.Ala1851=) c.5016G>T (p.Ala1672=) c.3176G>T c.1163G>T n.781G>T c.5478G>T (p.Ala1826=) c.5538G>T (p.Ala1846=) c.5493G>T (p.Ala1831=) c.5574G>T (p.Ala1858=) c.5529G>T (p.Ala1843=) c.5514G>T (p.Ala1838=) | |
| 9 | g.128618062C>A | CA375077187 | SPTAN1 | c.5590C>A (p.Gln1864Lys) c.5554C>A (p.Gln1852Lys) c.5017C>A (p.Gln1673Lys) c.3177C>A c.1164C>A n.782C>A c.5479C>A (p.Gln1827Lys) c.5539C>A (p.Gln1847Lys) c.5494C>A (p.Gln1832Lys) c.5575C>A (p.Gln1859Lys) c.5530C>A (p.Gln1844Lys) c.5515C>A (p.Gln1839Lys) | |
| 9 | g.128618062C= | CA1880364354 | SPTAN1 | c.5590C= (p.Gln1864=) c.5554C= (p.Gln1852=) c.5017C= (p.Gln1673=) c.3177C= c.1164C= n.782C= c.5479C= (p.Gln1827=) c.5539C= (p.Gln1847=) c.5494C= (p.Gln1832=) c.5575C= (p.Gln1859=) c.5530C= (p.Gln1844=) c.5515C= (p.Gln1839=) | |
| 9 | g.128618062C>G | CA375077189 | SPTAN1 | c.5590C>G (p.Gln1864Glu) c.5554C>G (p.Gln1852Glu) c.5017C>G (p.Gln1673Glu) c.3177C>G c.1164C>G n.782C>G c.5479C>G (p.Gln1827Glu) c.5539C>G (p.Gln1847Glu) c.5494C>G (p.Gln1832Glu) c.5575C>G (p.Gln1859Glu) c.5530C>G (p.Gln1844Glu) c.5515C>G (p.Gln1839Glu) | dbSNP |
| 9 | g.128618062C>T | CA375077191 | SPTAN1 | c.5590C>T (p.Gln1864Ter) c.5554C>T (p.Gln1852Ter) c.5017C>T (p.Gln1673Ter) c.3177C>T c.1164C>T n.782C>T c.5479C>T (p.Gln1827Ter) c.5539C>T (p.Gln1847Ter) c.5494C>T (p.Gln1832Ter) c.5575C>T (p.Gln1859Ter) c.5530C>T (p.Gln1844Ter) c.5515C>T (p.Gln1839Ter) | |
| 9 | g.128618063A= | CA1880364355 | SPTAN1 | c.5591A= (p.Gln1864=) c.5555A= (p.Gln1852=) c.5018A= (p.Gln1673=) c.3178A= c.1165A= n.783A= c.5480A= (p.Gln1827=) c.5540A= (p.Gln1847=) c.5495A= (p.Gln1832=) c.5576A= (p.Gln1859=) c.5531A= (p.Gln1844=) c.5516A= (p.Gln1839=) | |
| 9 | g.128618063A>C | CA375077197 | SPTAN1 | c.5591A>C (p.Gln1864Pro) c.5555A>C (p.Gln1852Pro) c.5018A>C (p.Gln1673Pro) c.3178A>C c.1165A>C n.783A>C c.5480A>C (p.Gln1827Pro) c.5540A>C (p.Gln1847Pro) c.5495A>C (p.Gln1832Pro) c.5576A>C (p.Gln1859Pro) c.5531A>C (p.Gln1844Pro) c.5516A>C (p.Gln1839Pro) | |
| 9 | g.128618063A>G | CA375077200 | SPTAN1 | c.5591A>G (p.Gln1864Arg) c.5555A>G (p.Gln1852Arg) c.5018A>G (p.Gln1673Arg) c.3178A>G c.1165A>G n.783A>G c.5480A>G (p.Gln1827Arg) c.5540A>G (p.Gln1847Arg) c.5495A>G (p.Gln1832Arg) c.5576A>G (p.Gln1859Arg) c.5531A>G (p.Gln1844Arg) c.5516A>G (p.Gln1839Arg) | dbSNP |
| 9 | g.128618063A>T | CA375077203 | SPTAN1 | c.5591A>T (p.Gln1864Leu) c.5555A>T (p.Gln1852Leu) c.5018A>T (p.Gln1673Leu) c.3178A>T c.1165A>T n.783A>T c.5480A>T (p.Gln1827Leu) c.5540A>T (p.Gln1847Leu) c.5495A>T (p.Gln1832Leu) c.5576A>T (p.Gln1859Leu) c.5531A>T (p.Gln1844Leu) c.5516A>T (p.Gln1839Leu) | |
| 9 | g.128618064G>A | CA467303964 | SPTAN1 | c.5592G>A (p.Gln1864=) c.5556G>A (p.Gln1852=) c.5019G>A (p.Gln1673=) c.3179G>A c.1166G>A n.784G>A c.5481G>A (p.Gln1827=) c.5541G>A (p.Gln1847=) c.5496G>A (p.Gln1832=) c.5577G>A (p.Gln1859=) c.5532G>A (p.Gln1844=) c.5517G>A (p.Gln1839=) | |
| 9 | g.128618064G>C | CA375077206 | SPTAN1 | c.5592G>C (p.Gln1864His) c.5556G>C (p.Gln1852His) c.5019G>C (p.Gln1673His) c.3179G>C c.1166G>C n.784G>C c.5481G>C (p.Gln1827His) c.5541G>C (p.Gln1847His) c.5496G>C (p.Gln1832His) c.5577G>C (p.Gln1859His) c.5532G>C (p.Gln1844His) c.5517G>C (p.Gln1839His) | |
| 9 | g.128618064G>T | CA375077209 | SPTAN1 | c.5592G>T (p.Gln1864His) c.5556G>T (p.Gln1852His) c.5019G>T (p.Gln1673His) c.3179G>T c.1166G>T n.784G>T c.5481G>T (p.Gln1827His) c.5541G>T (p.Gln1847His) c.5496G>T (p.Gln1832His) c.5577G>T (p.Gln1859His) c.5532G>T (p.Gln1844His) c.5517G>T (p.Gln1839His) | |
| 9 | g.128618065T>A | CA375077211 | SPTAN1 | c.5593T>A (p.Phe1865Ile) c.5557T>A (p.Phe1853Ile) c.5020T>A (p.Phe1674Ile) c.3180T>A c.1167T>A n.785T>A c.5482T>A (p.Phe1828Ile) c.5542T>A (p.Phe1848Ile) c.5497T>A (p.Phe1833Ile) c.5578T>A (p.Phe1860Ile) c.5533T>A (p.Phe1845Ile) c.5518T>A (p.Phe1840Ile) | |
| 9 | g.128618065T>C | CA375077215 | SPTAN1 | c.5593T>C (p.Phe1865Leu) c.5557T>C (p.Phe1853Leu) c.5020T>C (p.Phe1674Leu) c.3180T>C c.1167T>C n.785T>C c.5482T>C (p.Phe1828Leu) c.5542T>C (p.Phe1848Leu) c.5497T>C (p.Phe1833Leu) c.5578T>C (p.Phe1860Leu) c.5533T>C (p.Phe1845Leu) c.5518T>C (p.Phe1840Leu) | |
| 9 | g.128618065T>G | CA5265500 | SPTAN1 | c.5593T>G (p.Phe1865Val) c.5557T>G (p.Phe1853Val) c.5020T>G (p.Phe1674Val) c.3180T>G c.1167T>G n.785T>G c.5482T>G (p.Phe1828Val) c.5542T>G (p.Phe1848Val) c.5497T>G (p.Phe1833Val) c.5578T>G (p.Phe1860Val) c.5533T>G (p.Phe1845Val) c.5518T>G (p.Phe1840Val) | dbSNP ExAC |
| 9 | g.128618065T= | CA1880364356 | SPTAN1 | c.5593T= (p.Phe1865=) c.5557T= (p.Phe1853=) c.5020T= (p.Phe1674=) c.3180T= c.1167T= n.785T= c.5482T= (p.Phe1828=) c.5542T= (p.Phe1848=) c.5497T= (p.Phe1833=) c.5578T= (p.Phe1860=) c.5533T= (p.Phe1845=) c.5518T= (p.Phe1840=) | |
| 9 | g.128618066T>A | CA375077218 | SPTAN1 | c.5594T>A (p.Phe1865Tyr) c.5558T>A (p.Phe1853Tyr) c.5021T>A (p.Phe1674Tyr) c.3181T>A c.1168T>A n.786T>A c.5483T>A (p.Phe1828Tyr) c.5543T>A (p.Phe1848Tyr) c.5498T>A (p.Phe1833Tyr) c.5579T>A (p.Phe1860Tyr) c.5534T>A (p.Phe1845Tyr) c.5519T>A (p.Phe1840Tyr) | COSMIC COSMIC |
| 9 | g.128618066T>C | CA375077221 | SPTAN1 | c.5594T>C (p.Phe1865Ser) c.5558T>C (p.Phe1853Ser) c.5021T>C (p.Phe1674Ser) c.3181T>C c.1168T>C n.786T>C c.5483T>C (p.Phe1828Ser) c.5543T>C (p.Phe1848Ser) c.5498T>C (p.Phe1833Ser) c.5579T>C (p.Phe1860Ser) c.5534T>C (p.Phe1845Ser) c.5519T>C (p.Phe1840Ser) | |
| 9 | g.128618066T>G | CA375077223 | SPTAN1 | c.5594T>G (p.Phe1865Cys) c.5558T>G (p.Phe1853Cys) c.5021T>G (p.Phe1674Cys) c.3181T>G c.1168T>G n.786T>G c.5483T>G (p.Phe1828Cys) c.5543T>G (p.Phe1848Cys) c.5498T>G (p.Phe1833Cys) c.5579T>G (p.Phe1860Cys) c.5534T>G (p.Phe1845Cys) c.5519T>G (p.Phe1840Cys) | |
| 9 | g.128618067T>A | CA375077225 | SPTAN1 | c.5595T>A (p.Phe1865Leu) c.5559T>A (p.Phe1853Leu) c.5022T>A (p.Phe1674Leu) c.3182T>A c.1169T>A n.787T>A c.5484T>A (p.Phe1828Leu) c.5544T>A (p.Phe1848Leu) c.5499T>A (p.Phe1833Leu) c.5580T>A (p.Phe1860Leu) c.5535T>A (p.Phe1845Leu) c.5520T>A (p.Phe1840Leu) | |
| 9 | g.128618067T>C | CA467303968 | SPTAN1 | c.5595T>C (p.Phe1865=) c.5559T>C (p.Phe1853=) c.5022T>C (p.Phe1674=) c.3182T>C c.1169T>C n.787T>C c.5484T>C (p.Phe1828=) c.5544T>C (p.Phe1848=) c.5499T>C (p.Phe1833=) c.5580T>C (p.Phe1860=) c.5535T>C (p.Phe1845=) c.5520T>C (p.Phe1840=) | dbSNP |
| 9 | g.128618067T>G | CA375077227 | SPTAN1 | c.5595T>G (p.Phe1865Leu) c.5559T>G (p.Phe1853Leu) c.5022T>G (p.Phe1674Leu) c.3182T>G c.1169T>G n.787T>G c.5484T>G (p.Phe1828Leu) c.5544T>G (p.Phe1848Leu) c.5499T>G (p.Phe1833Leu) c.5580T>G (p.Phe1860Leu) c.5535T>G (p.Phe1845Leu) c.5520T>G (p.Phe1840Leu) | |
| 9 | g.128618067T= | CA1880364357 | SPTAN1 | c.5595T= (p.Phe1865=) c.5559T= (p.Phe1853=) c.5022T= (p.Phe1674=) c.3182T= c.1169T= n.787T= c.5484T= (p.Phe1828=) c.5544T= (p.Phe1848=) c.5499T= (p.Phe1833=) c.5580T= (p.Phe1860=) c.5535T= (p.Phe1845=) c.5520T= (p.Phe1840=) | |
| 9 | g.128618068G>A | CA5265501 | SPTAN1 | c.5596G>A (p.Val1866Met) c.5560G>A (p.Val1854Met) c.5023G>A (p.Val1675Met) c.3183G>A c.1170G>A n.788G>A c.5485G>A (p.Val1829Met) c.5545G>A (p.Val1849Met) c.5500G>A (p.Val1834Met) c.5581G>A (p.Val1861Met) c.5536G>A (p.Val1846Met) c.5521G>A (p.Val1841Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.128618068G>C | CA375077231 | SPTAN1 | c.5596G>C (p.Val1866Leu) c.5560G>C (p.Val1854Leu) c.5023G>C (p.Val1675Leu) c.3183G>C c.1170G>C n.788G>C c.5485G>C (p.Val1829Leu) c.5545G>C (p.Val1849Leu) c.5500G>C (p.Val1834Leu) c.5581G>C (p.Val1861Leu) c.5536G>C (p.Val1846Leu) c.5521G>C (p.Val1841Leu) | |
| 9 | g.128618068G= | CA1880364358 | SPTAN1 | c.5596G= (p.Val1866=) c.5560G= (p.Val1854=) c.5023G= (p.Val1675=) c.3183G= c.1170G= n.788G= c.5485G= (p.Val1829=) c.5545G= (p.Val1849=) c.5500G= (p.Val1834=) c.5581G= (p.Val1861=) c.5536G= (p.Val1846=) c.5521G= (p.Val1841=) | |
| 9 | g.128618068G>T | CA375077233 | SPTAN1 | c.5596G>T (p.Val1866Leu) c.5560G>T (p.Val1854Leu) c.5023G>T (p.Val1675Leu) c.3183G>T c.1170G>T n.788G>T c.5485G>T (p.Val1829Leu) c.5545G>T (p.Val1849Leu) c.5500G>T (p.Val1834Leu) c.5581G>T (p.Val1861Leu) c.5536G>T (p.Val1846Leu) c.5521G>T (p.Val1841Leu) | ClinVar dbSNP |
| 9 | g.128618069T>A | CA375077235 | SPTAN1 | c.5597T>A (p.Val1866Glu) c.5561T>A (p.Val1854Glu) c.5024T>A (p.Val1675Glu) c.3184T>A c.1171T>A n.789T>A c.5486T>A (p.Val1829Glu) c.5546T>A (p.Val1849Glu) c.5501T>A (p.Val1834Glu) c.5582T>A (p.Val1861Glu) c.5537T>A (p.Val1846Glu) c.5522T>A (p.Val1841Glu) | |
| 9 | g.128618069T>C | CA375077237 | SPTAN1 | c.5597T>C (p.Val1866Ala) c.5561T>C (p.Val1854Ala) c.5024T>C (p.Val1675Ala) c.3184T>C c.1171T>C n.789T>C c.5486T>C (p.Val1829Ala) c.5546T>C (p.Val1849Ala) c.5501T>C (p.Val1834Ala) c.5582T>C (p.Val1861Ala) c.5537T>C (p.Val1846Ala) c.5522T>C (p.Val1841Ala) | |
| 9 | g.128618069T>G | CA375077239 | SPTAN1 | c.5597T>G (p.Val1866Gly) c.5561T>G (p.Val1854Gly) c.5024T>G (p.Val1675Gly) c.3184T>G c.1171T>G n.789T>G c.5486T>G (p.Val1829Gly) c.5546T>G (p.Val1849Gly) c.5501T>G (p.Val1834Gly) c.5582T>G (p.Val1861Gly) c.5537T>G (p.Val1846Gly) c.5522T>G (p.Val1841Gly) | |
| 9 | g.128618070G>A | CA5265502 | SPTAN1 | c.5598G>A (p.Val1866=) c.5562G>A (p.Val1854=) c.5025G>A (p.Val1675=) c.3185G>A c.1172G>A n.790G>A c.5487G>A (p.Val1829=) c.5547G>A (p.Val1849=) c.5502G>A (p.Val1834=) c.5583G>A (p.Val1861=) c.5538G>A (p.Val1846=) c.5523G>A (p.Val1841=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.128618070G>C | CA467303970 | SPTAN1 | c.5598G>C (p.Val1866=) c.5562G>C (p.Val1854=) c.5025G>C (p.Val1675=) c.3185G>C c.1172G>C n.790G>C c.5487G>C (p.Val1829=) c.5547G>C (p.Val1849=) c.5502G>C (p.Val1834=) c.5583G>C (p.Val1861=) c.5538G>C (p.Val1846=) c.5523G>C (p.Val1841=) | |
| 9 | g.128618070G= | CA1880364359 | SPTAN1 | c.5598G= (p.Val1866=) c.5562G= (p.Val1854=) c.5025G= (p.Val1675=) c.3185G= c.1172G= n.790G= c.5487G= (p.Val1829=) c.5547G= (p.Val1849=) c.5502G= (p.Val1834=) c.5583G= (p.Val1861=) c.5538G= (p.Val1846=) c.5523G= (p.Val1841=) | |
| 9 | g.128618070G>T | CA467303971 | SPTAN1 | c.5598G>T (p.Val1866=) c.5562G>T (p.Val1854=) c.5025G>T (p.Val1675=) c.3185G>T c.1172G>T n.790G>T c.5487G>T (p.Val1829=) c.5547G>T (p.Val1849=) c.5502G>T (p.Val1834=) c.5583G>T (p.Val1861=) c.5538G>T (p.Val1846=) c.5523G>T (p.Val1841=) | |
| 9 | g.128618071G>A | CA375077246 | SPTAN1 | c.5599G>A (p.Glu1867Lys) c.5563G>A (p.Glu1855Lys) c.5026G>A (p.Glu1676Lys) c.3186G>A c.1173G>A n.791G>A c.5488G>A (p.Glu1830Lys) c.5548G>A (p.Glu1850Lys) c.5503G>A (p.Glu1835Lys) c.5584G>A (p.Glu1862Lys) c.5539G>A (p.Glu1847Lys) c.5524G>A (p.Glu1842Lys) | |
| 9 | g.128618071G>C | CA375077248 | SPTAN1 | c.5599G>C (p.Glu1867Gln) c.5563G>C (p.Glu1855Gln) c.5026G>C (p.Glu1676Gln) c.3186G>C c.1173G>C n.791G>C c.5488G>C (p.Glu1830Gln) c.5548G>C (p.Glu1850Gln) c.5503G>C (p.Glu1835Gln) c.5584G>C (p.Glu1862Gln) c.5539G>C (p.Glu1847Gln) c.5524G>C (p.Glu1842Gln) | |
| 9 | g.128618071G>T | CA375077243 | SPTAN1 | c.5599G>T (p.Glu1867Ter) c.5563G>T (p.Glu1855Ter) c.5026G>T (p.Glu1676Ter) c.3186G>T c.1173G>T n.791G>T c.5488G>T (p.Glu1830Ter) c.5548G>T (p.Glu1850Ter) c.5503G>T (p.Glu1835Ter) c.5584G>T (p.Glu1862Ter) c.5539G>T (p.Glu1847Ter) c.5524G>T (p.Glu1842Ter) | |
| 9 | g.128618072A>C | CA375077251 | SPTAN1 | c.5600A>C (p.Glu1867Ala) c.5564A>C (p.Glu1855Ala) c.5027A>C (p.Glu1676Ala) c.3187A>C c.1174A>C n.792A>C c.5489A>C (p.Glu1830Ala) c.5549A>C (p.Glu1850Ala) c.5504A>C (p.Glu1835Ala) c.5585A>C (p.Glu1862Ala) c.5540A>C (p.Glu1847Ala) c.5525A>C (p.Glu1842Ala) | |
| 9 | g.128618072A>G | CA375077253 | SPTAN1 | c.5600A>G (p.Glu1867Gly) c.5564A>G (p.Glu1855Gly) c.5027A>G (p.Glu1676Gly) c.3187A>G c.1174A>G n.792A>G c.5489A>G (p.Glu1830Gly) c.5549A>G (p.Glu1850Gly) c.5504A>G (p.Glu1835Gly) c.5585A>G (p.Glu1862Gly) c.5540A>G (p.Glu1847Gly) c.5525A>G (p.Glu1842Gly) | |
| 9 | g.128618072A>T | CA375077258 | SPTAN1 | c.5600A>T (p.Glu1867Val) c.5564A>T (p.Glu1855Val) c.5027A>T (p.Glu1676Val) c.3187A>T c.1174A>T n.792A>T c.5489A>T (p.Glu1830Val) c.5549A>T (p.Glu1850Val) c.5504A>T (p.Glu1835Val) c.5585A>T (p.Glu1862Val) c.5540A>T (p.Glu1847Val) c.5525A>T (p.Glu1842Val) | |
| 9 | g.128618073G>A | CA467303974 | SPTAN1 | c.5601G>A (p.Glu1867=) c.5565G>A (p.Glu1855=) c.5028G>A (p.Glu1676=) c.3188G>A c.1175G>A n.793G>A c.5490G>A (p.Glu1830=) c.5550G>A (p.Glu1850=) c.5505G>A (p.Glu1835=) c.5586G>A (p.Glu1862=) c.5541G>A (p.Glu1847=) c.5526G>A (p.Glu1842=) | |
| 9 | g.128618073G>C | CA375077264 | SPTAN1 | c.5601G>C (p.Glu1867Asp) c.5565G>C (p.Glu1855Asp) c.5028G>C (p.Glu1676Asp) c.3188G>C c.1175G>C n.793G>C c.5490G>C (p.Glu1830Asp) c.5550G>C (p.Glu1850Asp) c.5505G>C (p.Glu1835Asp) c.5586G>C (p.Glu1862Asp) c.5541G>C (p.Glu1847Asp) c.5526G>C (p.Glu1842Asp) | |
| 9 | g.128618073G>T | CA375077267 | SPTAN1 | c.5601G>T (p.Glu1867Asp) c.5565G>T (p.Glu1855Asp) c.5028G>T (p.Glu1676Asp) c.3188G>T c.1175G>T n.793G>T c.5490G>T (p.Glu1830Asp) c.5550G>T (p.Glu1850Asp) c.5505G>T (p.Glu1835Asp) c.5586G>T (p.Glu1862Asp) c.5541G>T (p.Glu1847Asp) c.5526G>T (p.Glu1842Asp) | |
| 9 | g.128618074C>A | CA375077274 | SPTAN1 | c.5602C>A (p.His1868Asn) c.5566C>A (p.His1856Asn) c.5029C>A (p.His1677Asn) c.3189C>A c.1176C>A n.794C>A c.5491C>A (p.His1831Asn) c.5551C>A (p.His1851Asn) c.5506C>A (p.His1836Asn) c.5587C>A (p.His1863Asn) c.5542C>A (p.His1848Asn) c.5527C>A (p.His1843Asn) | |
| 9 | g.128618074C>G | CA375077269 | SPTAN1 | c.5602C>G (p.His1868Asp) c.5566C>G (p.His1856Asp) c.5029C>G (p.His1677Asp) c.3189C>G c.1176C>G n.794C>G c.5491C>G (p.His1831Asp) c.5551C>G (p.His1851Asp) c.5506C>G (p.His1836Asp) c.5587C>G (p.His1863Asp) c.5542C>G (p.His1848Asp) c.5527C>G (p.His1843Asp) | |
| 9 | g.128618074C>T | CA375077272 | SPTAN1 | c.5602C>T (p.His1868Tyr) c.5566C>T (p.His1856Tyr) c.5029C>T (p.His1677Tyr) c.3189C>T c.1176C>T n.794C>T c.5491C>T (p.His1831Tyr) c.5551C>T (p.His1851Tyr) c.5506C>T (p.His1836Tyr) c.5587C>T (p.His1863Tyr) c.5542C>T (p.His1848Tyr) c.5527C>T (p.His1843Tyr) | |
| 9 | g.128618075_128618076del | CA2582342662 | SPTAN1 | c.5603_5604del (p.His1868LeufsTer?) c.5567_5568del (p.His1856LeufsTer?) c.5030_5031del (p.His1677LeufsTer?) c.3190_3191del c.1177_1178del n.795_796del c.5492_5493del (p.His1831LeufsTer?) c.5552_5553del (p.His1851LeufsTer?) c.5507_5508del (p.His1836LeufsTer?) c.5588_5589del (p.His1863LeufsTer?) c.5543_5544del (p.His1848LeufsTer?) c.5528_5529del (p.His1843LeufsTer?) | ClinVar |
| 9 | g.128618075A= | CA1880364360 | SPTAN1 | c.5603A= (p.His1868=) c.5567A= (p.His1856=) c.5030A= (p.His1677=) c.3190A= c.1177A= n.795A= c.5492A= (p.His1831=) c.5552A= (p.His1851=) c.5507A= (p.His1836=) c.5588A= (p.His1863=) c.5543A= (p.His1848=) c.5528A= (p.His1843=) | |
| 9 | g.128618075A>C | CA375077283 | SPTAN1 | c.5603A>C (p.His1868Pro) c.5567A>C (p.His1856Pro) c.5030A>C (p.His1677Pro) c.3190A>C c.1177A>C n.795A>C c.5492A>C (p.His1831Pro) c.5552A>C (p.His1851Pro) c.5507A>C (p.His1836Pro) c.5588A>C (p.His1863Pro) c.5543A>C (p.His1848Pro) c.5528A>C (p.His1843Pro) | |
| 9 | g.128618075A>G | CA375077284 | SPTAN1 | c.5603A>G (p.His1868Arg) c.5567A>G (p.His1856Arg) c.5030A>G (p.His1677Arg) c.3190A>G c.1177A>G n.795A>G c.5492A>G (p.His1831Arg) c.5552A>G (p.His1851Arg) c.5507A>G (p.His1836Arg) c.5588A>G (p.His1863Arg) c.5543A>G (p.His1848Arg) c.5528A>G (p.His1843Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.128618075A>T | CA375077287 | SPTAN1 | c.5603A>T (p.His1868Leu) c.5567A>T (p.His1856Leu) c.5030A>T (p.His1677Leu) c.3190A>T c.1177A>T n.795A>T c.5492A>T (p.His1831Leu) c.5552A>T (p.His1851Leu) c.5507A>T (p.His1836Leu) c.5588A>T (p.His1863Leu) c.5543A>T (p.His1848Leu) c.5528A>T (p.His1843Leu) | |
| 9 | g.128618076C>A | CA375077289 | SPTAN1 | c.5604C>A (p.His1868Gln) c.5568C>A (p.His1856Gln) c.5031C>A (p.His1677Gln) c.3191C>A c.1178C>A n.796C>A c.5493C>A (p.His1831Gln) c.5553C>A (p.His1851Gln) c.5508C>A (p.His1836Gln) c.5589C>A (p.His1863Gln) c.5544C>A (p.His1848Gln) c.5529C>A (p.His1843Gln) | |
| 9 | g.128618076C= | CA1880364361 | SPTAN1 | c.5604C= (p.His1868=) c.5568C= (p.His1856=) c.5031C= (p.His1677=) c.3191C= c.1178C= n.796C= c.5493C= (p.His1831=) c.5553C= (p.His1851=) c.5508C= (p.His1836=) c.5589C= (p.His1863=) c.5544C= (p.His1848=) c.5529C= (p.His1843=) | |
| 9 | g.128618076C>G | CA375077290 | SPTAN1 | c.5604C>G (p.His1868Gln) c.5568C>G (p.His1856Gln) c.5031C>G (p.His1677Gln) c.3191C>G c.1178C>G n.796C>G c.5493C>G (p.His1831Gln) c.5553C>G (p.His1851Gln) c.5508C>G (p.His1836Gln) c.5589C>G (p.His1863Gln) c.5544C>G (p.His1848Gln) c.5529C>G (p.His1843Gln) | |
| 9 | g.128618076C>T | CA467303975 | SPTAN1 | c.5604C>T (p.His1868=) c.5568C>T (p.His1856=) c.5031C>T (p.His1677=) c.3191C>T c.1178C>T n.796C>T c.5493C>T (p.His1831=) c.5553C>T (p.His1851=) c.5508C>T (p.His1836=) c.5589C>T (p.His1863=) c.5544C>T (p.His1848=) c.5529C>T (p.His1843=) | ClinVar dbSNP |
| 9 | g.128618077T>A | CA375077293 | SPTAN1 | c.5605T>A (p.Trp1869Arg) c.5569T>A (p.Trp1857Arg) c.5032T>A (p.Trp1678Arg) c.3192T>A c.1179T>A n.797T>A c.5494T>A (p.Trp1832Arg) c.5554T>A (p.Trp1852Arg) c.5509T>A (p.Trp1837Arg) c.5590T>A (p.Trp1864Arg) c.5545T>A (p.Trp1849Arg) c.5530T>A (p.Trp1844Arg) | |
| 9 | g.128618077T>C | CA375077298 | SPTAN1 | c.5605T>C (p.Trp1869Arg) c.5569T>C (p.Trp1857Arg) c.5032T>C (p.Trp1678Arg) c.3192T>C c.1179T>C n.797T>C c.5494T>C (p.Trp1832Arg) c.5554T>C (p.Trp1852Arg) c.5509T>C (p.Trp1837Arg) c.5590T>C (p.Trp1864Arg) c.5545T>C (p.Trp1849Arg) c.5530T>C (p.Trp1844Arg) | |
| 9 | g.128618077T>G | CA375077296 | SPTAN1 | c.5605T>G (p.Trp1869Gly) c.5569T>G (p.Trp1857Gly) c.5032T>G (p.Trp1678Gly) c.3192T>G c.1179T>G n.797T>G c.5494T>G (p.Trp1832Gly) c.5554T>G (p.Trp1852Gly) c.5509T>G (p.Trp1837Gly) c.5590T>G (p.Trp1864Gly) c.5545T>G (p.Trp1849Gly) c.5530T>G (p.Trp1844Gly) | |
| 9 | g.128618078G>A | CA375077302 | SPTAN1 | c.5606G>A (p.Trp1869Ter) c.5570G>A (p.Trp1857Ter) c.5033G>A (p.Trp1678Ter) c.3193G>A c.1180G>A n.798G>A c.5495G>A (p.Trp1832Ter) c.5555G>A (p.Trp1852Ter) c.5510G>A (p.Trp1837Ter) c.5591G>A (p.Trp1864Ter) c.5546G>A (p.Trp1849Ter) c.5531G>A (p.Trp1844Ter) | dbSNP |
| 9 | g.128618078G>C | CA375077305 | SPTAN1 | c.5606G>C (p.Trp1869Ser) c.5570G>C (p.Trp1857Ser) c.5033G>C (p.Trp1678Ser) c.3193G>C c.1180G>C n.798G>C c.5495G>C (p.Trp1832Ser) c.5555G>C (p.Trp1852Ser) c.5510G>C (p.Trp1837Ser) c.5591G>C (p.Trp1864Ser) c.5546G>C (p.Trp1849Ser) c.5531G>C (p.Trp1844Ser) | |
| 9 | g.128618078G= | CA1880364362 | SPTAN1 | c.5606G= (p.Trp1869=) c.5570G= (p.Trp1857=) c.5033G= (p.Trp1678=) c.3193G= c.1180G= n.798G= c.5495G= (p.Trp1832=) c.5555G= (p.Trp1852=) c.5510G= (p.Trp1837=) c.5591G= (p.Trp1864=) c.5546G= (p.Trp1849=) c.5531G= (p.Trp1844=) | |
| 9 | g.128618078G>T | CA375077304 | SPTAN1 | c.5606G>T (p.Trp1869Leu) c.5570G>T (p.Trp1857Leu) c.5033G>T (p.Trp1678Leu) c.3193G>T c.1180G>T n.798G>T c.5495G>T (p.Trp1832Leu) c.5555G>T (p.Trp1852Leu) c.5510G>T (p.Trp1837Leu) c.5591G>T (p.Trp1864Leu) c.5546G>T (p.Trp1849Leu) c.5531G>T (p.Trp1844Leu) | |
| 9 | g.128618079G>A | CA375077308 | SPTAN1 | c.5607G>A (p.Trp1869Ter) c.5571G>A (p.Trp1857Ter) c.5034G>A (p.Trp1678Ter) c.3194G>A c.1181G>A n.799G>A c.5496G>A (p.Trp1832Ter) c.5556G>A (p.Trp1852Ter) c.5511G>A (p.Trp1837Ter) c.5592G>A (p.Trp1864Ter) c.5547G>A (p.Trp1849Ter) c.5532G>A (p.Trp1844Ter) | dbSNP |
| 9 | g.128618079G>C | CA375077309 | SPTAN1 | c.5607G>C (p.Trp1869Cys) c.5571G>C (p.Trp1857Cys) c.5034G>C (p.Trp1678Cys) c.3194G>C c.1181G>C n.799G>C c.5496G>C (p.Trp1832Cys) c.5556G>C (p.Trp1852Cys) c.5511G>C (p.Trp1837Cys) c.5592G>C (p.Trp1864Cys) c.5547G>C (p.Trp1849Cys) c.5532G>C (p.Trp1844Cys) | |
| 9 | g.128618079G= | CA1880364363 | SPTAN1 | c.5607G= (p.Trp1869=) c.5571G= (p.Trp1857=) c.5034G= (p.Trp1678=) c.3194G= c.1181G= n.799G= c.5496G= (p.Trp1832=) c.5556G= (p.Trp1852=) c.5511G= (p.Trp1837=) c.5592G= (p.Trp1864=) c.5547G= (p.Trp1849=) c.5532G= (p.Trp1844=) | |
| 9 | g.128618079G>T | CA375077311 | SPTAN1 | c.5607G>T (p.Trp1869Cys) c.5571G>T (p.Trp1857Cys) c.5034G>T (p.Trp1678Cys) c.3194G>T c.1181G>T n.799G>T c.5496G>T (p.Trp1832Cys) c.5556G>T (p.Trp1852Cys) c.5511G>T (p.Trp1837Cys) c.5592G>T (p.Trp1864Cys) c.5547G>T (p.Trp1849Cys) c.5532G>T (p.Trp1844Cys) | |
| 9 | g.128618080A= | CA1880364364 | SPTAN1 | c.5608A= (p.Lys1870=) c.5572A= (p.Lys1858=) c.5035A= (p.Lys1679=) c.3195A= c.1182A= n.800A= c.5497A= (p.Lys1833=) c.5557A= (p.Lys1853=) c.5512A= (p.Lys1838=) c.5593A= (p.Lys1865=) c.5548A= (p.Lys1850=) c.5533A= (p.Lys1845=) | |
| 9 | g.128618080A>C | CA375077312 | SPTAN1 | c.5608A>C (p.Lys1870Gln) c.5572A>C (p.Lys1858Gln) c.5035A>C (p.Lys1679Gln) c.3195A>C c.1182A>C n.800A>C c.5497A>C (p.Lys1833Gln) c.5557A>C (p.Lys1853Gln) c.5512A>C (p.Lys1838Gln) c.5593A>C (p.Lys1865Gln) c.5548A>C (p.Lys1850Gln) c.5533A>C (p.Lys1845Gln) | |
| 9 | g.128618080A>G | CA375077315 | SPTAN1 | c.5608A>G (p.Lys1870Glu) c.5572A>G (p.Lys1858Glu) c.5035A>G (p.Lys1679Glu) c.3195A>G c.1182A>G n.800A>G c.5497A>G (p.Lys1833Glu) c.5557A>G (p.Lys1853Glu) c.5512A>G (p.Lys1838Glu) c.5593A>G (p.Lys1865Glu) c.5548A>G (p.Lys1850Glu) c.5533A>G (p.Lys1845Glu) | ClinVar dbSNP |
| 9 | g.128618080A>T | CA375077316 | SPTAN1 | c.5608A>T (p.Lys1870Ter) c.5572A>T (p.Lys1858Ter) c.5035A>T (p.Lys1679Ter) c.3195A>T c.1182A>T n.800A>T c.5497A>T (p.Lys1833Ter) c.5557A>T (p.Lys1853Ter) c.5512A>T (p.Lys1838Ter) c.5593A>T (p.Lys1865Ter) c.5548A>T (p.Lys1850Ter) c.5533A>T (p.Lys1845Ter) | |
| 9 | g.128618081A>C | CA375077319 | SPTAN1 | c.5609A>C (p.Lys1870Thr) c.5573A>C (p.Lys1858Thr) c.5036A>C (p.Lys1679Thr) c.3196A>C c.1183A>C n.801A>C c.5498A>C (p.Lys1833Thr) c.5558A>C (p.Lys1853Thr) c.5513A>C (p.Lys1838Thr) c.5594A>C (p.Lys1865Thr) c.5549A>C (p.Lys1850Thr) c.5534A>C (p.Lys1845Thr) | |
| 9 | g.128618081A>G | CA375077321 | SPTAN1 | c.5609A>G (p.Lys1870Arg) c.5573A>G (p.Lys1858Arg) c.5036A>G (p.Lys1679Arg) c.3196A>G c.1183A>G n.801A>G c.5498A>G (p.Lys1833Arg) c.5558A>G (p.Lys1853Arg) c.5513A>G (p.Lys1838Arg) c.5594A>G (p.Lys1865Arg) c.5549A>G (p.Lys1850Arg) c.5534A>G (p.Lys1845Arg) | |
| 9 | g.128618081A>T | CA375077323 | SPTAN1 | c.5609A>T (p.Lys1870Ile) c.5573A>T (p.Lys1858Ile) c.5036A>T (p.Lys1679Ile) c.3196A>T c.1183A>T n.801A>T c.5498A>T (p.Lys1833Ile) c.5558A>T (p.Lys1853Ile) c.5513A>T (p.Lys1838Ile) c.5594A>T (p.Lys1865Ile) c.5549A>T (p.Lys1850Ile) c.5534A>T (p.Lys1845Ile) | |
| 9 | g.128618082A>C | CA375077325 | SPTAN1 | c.5610A>C (p.Lys1870Asn) c.5574A>C (p.Lys1858Asn) c.5037A>C (p.Lys1679Asn) c.3197A>C c.1184A>C n.802A>C c.5499A>C (p.Lys1833Asn) c.5559A>C (p.Lys1853Asn) c.5514A>C (p.Lys1838Asn) c.5595A>C (p.Lys1865Asn) c.5550A>C (p.Lys1850Asn) c.5535A>C (p.Lys1845Asn) | |
| 9 | g.128618082A>G | CA467303980 | SPTAN1 | c.5610A>G (p.Lys1870=) c.5574A>G (p.Lys1858=) c.5037A>G (p.Lys1679=) c.3197A>G c.1184A>G n.802A>G c.5499A>G (p.Lys1833=) c.5559A>G (p.Lys1853=) c.5514A>G (p.Lys1838=) c.5595A>G (p.Lys1865=) c.5550A>G (p.Lys1850=) c.5535A>G (p.Lys1845=) | |
| 9 | g.128618082A>T | CA375077328 | SPTAN1 | c.5610A>T (p.Lys1870Asn) c.5574A>T (p.Lys1858Asn) c.5037A>T (p.Lys1679Asn) c.3197A>T c.1184A>T n.802A>T c.5499A>T (p.Lys1833Asn) c.5559A>T (p.Lys1853Asn) c.5514A>T (p.Lys1838Asn) c.5595A>T (p.Lys1865Asn) c.5550A>T (p.Lys1850Asn) c.5535A>T (p.Lys1845Asn) | |
| 9 | g.128618083G>A | CA375077336 | SPTAN1 | c.5611G>A (p.Glu1871Lys) c.5575G>A (p.Glu1859Lys) c.5038G>A (p.Glu1680Lys) c.3198G>A c.1185G>A n.803G>A c.5500G>A (p.Glu1834Lys) c.5560G>A (p.Glu1854Lys) c.5515G>A (p.Glu1839Lys) c.5596G>A (p.Glu1866Lys) c.5551G>A (p.Glu1851Lys) c.5536G>A (p.Glu1846Lys) | |
| 9 | g.128618083G>C | CA375077334 | SPTAN1 | c.5611G>C (p.Glu1871Gln) c.5575G>C (p.Glu1859Gln) c.5038G>C (p.Glu1680Gln) c.3198G>C c.1185G>C n.803G>C c.5500G>C (p.Glu1834Gln) c.5560G>C (p.Glu1854Gln) c.5515G>C (p.Glu1839Gln) c.5596G>C (p.Glu1866Gln) c.5551G>C (p.Glu1851Gln) c.5536G>C (p.Glu1846Gln) | |
| 9 | g.128618083G>T | CA375077332 | SPTAN1 | c.5611G>T (p.Glu1871Ter) c.5575G>T (p.Glu1859Ter) c.5038G>T (p.Glu1680Ter) c.3198G>T c.1185G>T n.803G>T c.5500G>T (p.Glu1834Ter) c.5560G>T (p.Glu1854Ter) c.5515G>T (p.Glu1839Ter) c.5596G>T (p.Glu1866Ter) c.5551G>T (p.Glu1851Ter) c.5536G>T (p.Glu1846Ter) | |
| 9 | g.128618084A>C | CA375077337 | SPTAN1 | c.5612A>C (p.Glu1871Ala) c.5576A>C (p.Glu1859Ala) c.5039A>C (p.Glu1680Ala) c.3199A>C c.1186A>C n.804A>C c.5501A>C (p.Glu1834Ala) c.5561A>C (p.Glu1854Ala) c.5516A>C (p.Glu1839Ala) c.5597A>C (p.Glu1866Ala) c.5552A>C (p.Glu1851Ala) c.5537A>C (p.Glu1846Ala) | ClinVar |
| 9 | g.128618084A>G | CA375077338 | SPTAN1 | c.5612A>G (p.Glu1871Gly) c.5576A>G (p.Glu1859Gly) c.5039A>G (p.Glu1680Gly) c.3199A>G c.1186A>G n.804A>G c.5501A>G (p.Glu1834Gly) c.5561A>G (p.Glu1854Gly) c.5516A>G (p.Glu1839Gly) c.5597A>G (p.Glu1866Gly) c.5552A>G (p.Glu1851Gly) c.5537A>G (p.Glu1846Gly) | ClinVar dbSNP gnomAD v4 |
| 9 | g.128618084A>T | CA375077339 | SPTAN1 | c.5612A>T (p.Glu1871Val) c.5576A>T (p.Glu1859Val) c.5039A>T (p.Glu1680Val) c.3199A>T c.1186A>T n.804A>T c.5501A>T (p.Glu1834Val) c.5561A>T (p.Glu1854Val) c.5516A>T (p.Glu1839Val) c.5597A>T (p.Glu1866Val) c.5552A>T (p.Glu1851Val) c.5537A>T (p.Glu1846Val) | |
| 9 | g.128618085G>A | CA467303982 | SPTAN1 | c.5613G>A (p.Glu1871=) c.5577G>A (p.Glu1859=) c.5040G>A (p.Glu1680=) c.3200G>A c.1187G>A n.805G>A c.5502G>A (p.Glu1834=) c.5562G>A (p.Glu1854=) c.5517G>A (p.Glu1839=) c.5598G>A (p.Glu1866=) c.5553G>A (p.Glu1851=) c.5538G>A (p.Glu1846=) | |
| 9 | g.128618085G>C | CA375077341 | SPTAN1 | c.5613G>C (p.Glu1871Asp) c.5577G>C (p.Glu1859Asp) c.5040G>C (p.Glu1680Asp) c.3200G>C c.1187G>C n.805G>C c.5502G>C (p.Glu1834Asp) c.5562G>C (p.Glu1854Asp) c.5517G>C (p.Glu1839Asp) c.5598G>C (p.Glu1866Asp) c.5553G>C (p.Glu1851Asp) c.5538G>C (p.Glu1846Asp) | |
| 9 | g.128618085G>T | CA375077342 | SPTAN1 | c.5613G>T (p.Glu1871Asp) c.5577G>T (p.Glu1859Asp) c.5040G>T (p.Glu1680Asp) c.3200G>T c.1187G>T n.805G>T c.5502G>T (p.Glu1834Asp) c.5562G>T (p.Glu1854Asp) c.5517G>T (p.Glu1839Asp) c.5598G>T (p.Glu1866Asp) c.5553G>T (p.Glu1851Asp) c.5538G>T (p.Glu1846Asp) | gnomAD v4 |
| 9 | g.128618086C>A | CA375077344 | SPTAN1 | c.5614C>A (p.Leu1872Met) c.5578C>A (p.Leu1860Met) c.5041C>A (p.Leu1681Met) c.3201C>A c.1188C>A n.806C>A c.5503C>A (p.Leu1835Met) c.5563C>A (p.Leu1855Met) c.5518C>A (p.Leu1840Met) c.5599C>A (p.Leu1867Met) c.5554C>A (p.Leu1852Met) c.5539C>A (p.Leu1847Met) | gnomAD v4 |
| 9 | g.128618086C= | CA1880364365 | SPTAN1 | c.5614C= (p.Leu1872=) c.5578C= (p.Leu1860=) c.5041C= (p.Leu1681=) c.3201C= c.1188C= n.806C= c.5503C= (p.Leu1835=) c.5563C= (p.Leu1855=) c.5518C= (p.Leu1840=) c.5599C= (p.Leu1867=) c.5554C= (p.Leu1852=) c.5539C= (p.Leu1847=) | |
| 9 | g.128618086C>G | CA375077345 | SPTAN1 | c.5614C>G (p.Leu1872Val) c.5578C>G (p.Leu1860Val) c.5041C>G (p.Leu1681Val) c.3201C>G c.1188C>G n.806C>G c.5503C>G (p.Leu1835Val) c.5563C>G (p.Leu1855Val) c.5518C>G (p.Leu1840Val) c.5599C>G (p.Leu1867Val) c.5554C>G (p.Leu1852Val) c.5539C>G (p.Leu1847Val) | |
| 9 | g.128618086C>T | CA467303984 | SPTAN1 | c.5614C>T (p.Leu1872=) c.5578C>T (p.Leu1860=) c.5041C>T (p.Leu1681=) c.3201C>T c.1188C>T n.806C>T c.5503C>T (p.Leu1835=) c.5563C>T (p.Leu1855=) c.5518C>T (p.Leu1840=) c.5599C>T (p.Leu1867=) c.5554C>T (p.Leu1852=) c.5539C>T (p.Leu1847=) | dbSNP gnomAD v4 |
| 9 | g.128618087T>A | CA375077347 | SPTAN1 | c.5615T>A (p.Leu1872Gln) c.5579T>A (p.Leu1860Gln) c.5042T>A (p.Leu1681Gln) c.3202T>A c.1189T>A n.807T>A c.5504T>A (p.Leu1835Gln) c.5564T>A (p.Leu1855Gln) c.5519T>A (p.Leu1840Gln) c.5600T>A (p.Leu1867Gln) c.5555T>A (p.Leu1852Gln) c.5540T>A (p.Leu1847Gln) | |
| 9 | g.128618087T>C | CA375077350 | SPTAN1 | c.5615T>C (p.Leu1872Pro) c.5579T>C (p.Leu1860Pro) c.5042T>C (p.Leu1681Pro) c.3202T>C c.1189T>C n.807T>C c.5504T>C (p.Leu1835Pro) c.5564T>C (p.Leu1855Pro) c.5519T>C (p.Leu1840Pro) c.5600T>C (p.Leu1867Pro) c.5555T>C (p.Leu1852Pro) c.5540T>C (p.Leu1847Pro) | |
| 9 | g.128618087T>G | CA375077351 | SPTAN1 | c.5615T>G (p.Leu1872Arg) c.5579T>G (p.Leu1860Arg) c.5042T>G (p.Leu1681Arg) c.3202T>G c.1189T>G n.807T>G c.5504T>G (p.Leu1835Arg) c.5564T>G (p.Leu1855Arg) c.5519T>G (p.Leu1840Arg) c.5600T>G (p.Leu1867Arg) c.5555T>G (p.Leu1852Arg) c.5540T>G (p.Leu1847Arg) | |
| 9 | g.128618088G>A | CA5265503 | SPTAN1 | c.5616G>A (p.Leu1872=) c.5580G>A (p.Leu1860=) c.5043G>A (p.Leu1681=) c.3203G>A c.1190G>A n.808G>A c.5505G>A (p.Leu1835=) c.5565G>A (p.Leu1855=) c.5520G>A (p.Leu1840=) c.5601G>A (p.Leu1867=) c.5556G>A (p.Leu1852=) c.5541G>A (p.Leu1847=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.128618088G>C | CA467303987 | SPTAN1 | c.5616G>C (p.Leu1872=) c.5580G>C (p.Leu1860=) c.5043G>C (p.Leu1681=) c.3203G>C c.1190G>C n.808G>C c.5505G>C (p.Leu1835=) c.5565G>C (p.Leu1855=) c.5520G>C (p.Leu1840=) c.5601G>C (p.Leu1867=) c.5556G>C (p.Leu1852=) c.5541G>C (p.Leu1847=) | |
| 9 | g.128618088G= | CA1880364366 | SPTAN1 | c.5616G= (p.Leu1872=) c.5580G= (p.Leu1860=) c.5043G= (p.Leu1681=) c.3203G= c.1190G= n.808G= c.5505G= (p.Leu1835=) c.5565G= (p.Leu1855=) c.5520G= (p.Leu1840=) c.5601G= (p.Leu1867=) c.5556G= (p.Leu1852=) c.5541G= (p.Leu1847=) | |
| 9 | g.128618088G>T | CA467303989 | SPTAN1 | c.5616G>T (p.Leu1872=) c.5580G>T (p.Leu1860=) c.5043G>T (p.Leu1681=) c.3203G>T c.1190G>T n.808G>T c.5505G>T (p.Leu1835=) c.5565G>T (p.Leu1855=) c.5520G>T (p.Leu1840=) c.5601G>T (p.Leu1867=) c.5556G>T (p.Leu1852=) c.5541G>T (p.Leu1847=) | |
| 9 | g.128618089A>C | CA375077361 | SPTAN1 | c.5617A>C (p.Lys1873Gln) c.5581A>C (p.Lys1861Gln) c.5044A>C (p.Lys1682Gln) c.3204A>C c.1191A>C n.809A>C c.5506A>C (p.Lys1836Gln) c.5566A>C (p.Lys1856Gln) c.5521A>C (p.Lys1841Gln) c.5602A>C (p.Lys1868Gln) c.5557A>C (p.Lys1853Gln) c.5542A>C (p.Lys1848Gln) | |
| 9 | g.128618089A>G | CA375077359 | SPTAN1 | c.5617A>G (p.Lys1873Glu) c.5581A>G (p.Lys1861Glu) c.5044A>G (p.Lys1682Glu) c.3204A>G c.1191A>G n.809A>G c.5506A>G (p.Lys1836Glu) c.5566A>G (p.Lys1856Glu) c.5521A>G (p.Lys1841Glu) c.5602A>G (p.Lys1868Glu) c.5557A>G (p.Lys1853Glu) c.5542A>G (p.Lys1848Glu) | |
| 9 | g.128618089A>T | CA375077357 | SPTAN1 | c.5617A>T (p.Lys1873Ter) c.5581A>T (p.Lys1861Ter) c.5044A>T (p.Lys1682Ter) c.3204A>T c.1191A>T n.809A>T c.5506A>T (p.Lys1836Ter) c.5566A>T (p.Lys1856Ter) c.5521A>T (p.Lys1841Ter) c.5602A>T (p.Lys1868Ter) c.5557A>T (p.Lys1853Ter) c.5542A>T (p.Lys1848Ter) | |
| 9 | g.128618090A>C | CA375077369 | SPTAN1 | c.5618A>C (p.Lys1873Thr) c.5582A>C (p.Lys1861Thr) c.5045A>C (p.Lys1682Thr) c.3205A>C c.1192A>C n.810A>C c.5507A>C (p.Lys1836Thr) c.5567A>C (p.Lys1856Thr) c.5522A>C (p.Lys1841Thr) c.5603A>C (p.Lys1868Thr) c.5558A>C (p.Lys1853Thr) c.5543A>C (p.Lys1848Thr) | |
| 9 | g.128618090A>G | CA375077371 | SPTAN1 | c.5618A>G (p.Lys1873Arg) c.5582A>G (p.Lys1861Arg) c.5045A>G (p.Lys1682Arg) c.3205A>G c.1192A>G n.810A>G c.5507A>G (p.Lys1836Arg) c.5567A>G (p.Lys1856Arg) c.5522A>G (p.Lys1841Arg) c.5603A>G (p.Lys1868Arg) c.5558A>G (p.Lys1853Arg) c.5543A>G (p.Lys1848Arg) | |
| 9 | g.128618090A>T | CA375077372 | SPTAN1 | c.5618A>T (p.Lys1873Met) c.5582A>T (p.Lys1861Met) c.5045A>T (p.Lys1682Met) c.3205A>T c.1192A>T n.810A>T c.5507A>T (p.Lys1836Met) c.5567A>T (p.Lys1856Met) c.5522A>T (p.Lys1841Met) c.5603A>T (p.Lys1868Met) c.5558A>T (p.Lys1853Met) c.5543A>T (p.Lys1848Met) | |
| 9 | g.128618091G>A | CA467303991 | SPTAN1 | c.5619G>A (p.Lys1873=) c.5583G>A (p.Lys1861=) c.5046G>A (p.Lys1682=) c.3206G>A c.1193G>A n.811G>A c.5508G>A (p.Lys1836=) c.5568G>A (p.Lys1856=) c.5523G>A (p.Lys1841=) c.5604G>A (p.Lys1868=) c.5559G>A (p.Lys1853=) c.5544G>A (p.Lys1848=) | dbSNP |
| 9 | g.128618091G>C | CA375077374 | SPTAN1 | c.5619G>C (p.Lys1873Asn) c.5583G>C (p.Lys1861Asn) c.5046G>C (p.Lys1682Asn) c.3206G>C c.1193G>C n.811G>C c.5508G>C (p.Lys1836Asn) c.5568G>C (p.Lys1856Asn) c.5523G>C (p.Lys1841Asn) c.5604G>C (p.Lys1868Asn) c.5559G>C (p.Lys1853Asn) c.5544G>C (p.Lys1848Asn) | |
| 9 | g.128618091G= | CA1880364367 | SPTAN1 | c.5619G= (p.Lys1873=) c.5583G= (p.Lys1861=) c.5046G= (p.Lys1682=) c.3206G= c.1193G= n.811G= c.5508G= (p.Lys1836=) c.5568G= (p.Lys1856=) c.5523G= (p.Lys1841=) c.5604G= (p.Lys1868=) c.5559G= (p.Lys1853=) c.5544G= (p.Lys1848=) | |
| 9 | g.128618091G>T | CA375077377 | SPTAN1 | c.5619G>T (p.Lys1873Asn) c.5583G>T (p.Lys1861Asn) c.5046G>T (p.Lys1682Asn) c.3206G>T c.1193G>T n.811G>T c.5508G>T (p.Lys1836Asn) c.5568G>T (p.Lys1856Asn) c.5523G>T (p.Lys1841Asn) c.5604G>T (p.Lys1868Asn) c.5559G>T (p.Lys1853Asn) c.5544G>T (p.Lys1848Asn) | |
| 9 | g.128618092C>A | CA375077380 | SPTAN1 | c.5620C>A (p.Gln1874Lys) c.5584C>A (p.Gln1862Lys) c.5047C>A (p.Gln1683Lys) c.3207C>A c.1194C>A n.812C>A c.5509C>A (p.Gln1837Lys) c.5569C>A (p.Gln1857Lys) c.5524C>A (p.Gln1842Lys) c.5605C>A (p.Gln1869Lys) c.5560C>A (p.Gln1854Lys) c.5545C>A (p.Gln1849Lys) | |
| 9 | g.128618092C>G | CA375077383 | SPTAN1 | c.5620C>G (p.Gln1874Glu) c.5584C>G (p.Gln1862Glu) c.5047C>G (p.Gln1683Glu) c.3207C>G c.1194C>G n.812C>G c.5509C>G (p.Gln1837Glu) c.5569C>G (p.Gln1857Glu) c.5524C>G (p.Gln1842Glu) c.5605C>G (p.Gln1869Glu) c.5560C>G (p.Gln1854Glu) c.5545C>G (p.Gln1849Glu) | |
| 9 | g.128618092C>T | CA375077384 | SPTAN1 | c.5620C>T (p.Gln1874Ter) c.5584C>T (p.Gln1862Ter) c.5047C>T (p.Gln1683Ter) c.3207C>T c.1194C>T n.812C>T c.5509C>T (p.Gln1837Ter) c.5569C>T (p.Gln1857Ter) c.5524C>T (p.Gln1842Ter) c.5605C>T (p.Gln1869Ter) c.5560C>T (p.Gln1854Ter) c.5545C>T (p.Gln1849Ter) | |
| 9 | g.128618093A>C | CA375077386 | SPTAN1 | c.5621A>C (p.Gln1874Pro) c.5585A>C (p.Gln1862Pro) c.5048A>C (p.Gln1683Pro) c.3208A>C c.1195A>C n.813A>C c.5510A>C (p.Gln1837Pro) c.5570A>C (p.Gln1857Pro) c.5525A>C (p.Gln1842Pro) c.5606A>C (p.Gln1869Pro) c.5561A>C (p.Gln1854Pro) c.5546A>C (p.Gln1849Pro) | |
| 9 | g.128618093A>G | CA375077389 | SPTAN1 | c.5621A>G (p.Gln1874Arg) c.5585A>G (p.Gln1862Arg) c.5048A>G (p.Gln1683Arg) c.3208A>G c.1195A>G n.813A>G c.5510A>G (p.Gln1837Arg) c.5570A>G (p.Gln1857Arg) c.5525A>G (p.Gln1842Arg) c.5606A>G (p.Gln1869Arg) c.5561A>G (p.Gln1854Arg) c.5546A>G (p.Gln1849Arg) | |
| 9 | g.128618093A>T | CA375077392 | SPTAN1 | c.5621A>T (p.Gln1874Leu) c.5585A>T (p.Gln1862Leu) c.5048A>T (p.Gln1683Leu) c.3208A>T c.1195A>T n.813A>T c.5510A>T (p.Gln1837Leu) c.5570A>T (p.Gln1857Leu) c.5525A>T (p.Gln1842Leu) c.5606A>T (p.Gln1869Leu) c.5561A>T (p.Gln1854Leu) c.5546A>T (p.Gln1849Leu) | |
| 9 | g.128618094G>A | CA467303993 | SPTAN1 | c.5622G>A (p.Gln1874=) c.5586G>A (p.Gln1862=) c.5049G>A (p.Gln1683=) c.3209G>A c.1196G>A n.814G>A c.5511G>A (p.Gln1837=) c.5571G>A (p.Gln1857=) c.5526G>A (p.Gln1842=) c.5607G>A (p.Gln1869=) c.5562G>A (p.Gln1854=) c.5547G>A (p.Gln1849=) | |
| 9 | g.128618094G>C | CA375077395 | SPTAN1 | c.5622G>C (p.Gln1874His) c.5586G>C (p.Gln1862His) c.5049G>C (p.Gln1683His) c.3209G>C c.1196G>C n.814G>C c.5511G>C (p.Gln1837His) c.5571G>C (p.Gln1857His) c.5526G>C (p.Gln1842His) c.5607G>C (p.Gln1869His) c.5562G>C (p.Gln1854His) c.5547G>C (p.Gln1849His) | gnomAD v4 |
| 9 | g.128618094G>T | CA375077398 | SPTAN1 | c.5622G>T (p.Gln1874His) c.5586G>T (p.Gln1862His) c.5049G>T (p.Gln1683His) c.3209G>T c.1196G>T n.814G>T c.5511G>T (p.Gln1837His) c.5571G>T (p.Gln1857His) c.5526G>T (p.Gln1842His) c.5607G>T (p.Gln1869His) c.5562G>T (p.Gln1854His) c.5547G>T (p.Gln1849His) | ClinVar |
| 9 | g.128618095C>A | CA375077403 | SPTAN1 | c.5623C>A (p.Leu1875Met) c.5587C>A (p.Leu1863Met) c.5050C>A (p.Leu1684Met) c.3210C>A c.1197C>A n.815C>A c.5512C>A (p.Leu1838Met) c.5572C>A (p.Leu1858Met) c.5527C>A (p.Leu1843Met) c.5608C>A (p.Leu1870Met) c.5563C>A (p.Leu1855Met) c.5548C>A (p.Leu1850Met) | |
| 9 | g.128618095C>G | CA375077400 | SPTAN1 | c.5623C>G (p.Leu1875Val) c.5587C>G (p.Leu1863Val) c.5050C>G (p.Leu1684Val) c.3210C>G c.1197C>G n.815C>G c.5512C>G (p.Leu1838Val) c.5572C>G (p.Leu1858Val) c.5527C>G (p.Leu1843Val) c.5608C>G (p.Leu1870Val) c.5563C>G (p.Leu1855Val) c.5548C>G (p.Leu1850Val) | |
| 9 | g.128618095C>T | CA467303995 | SPTAN1 | c.5623C>T (p.Leu1875=) c.5587C>T (p.Leu1863=) c.5050C>T (p.Leu1684=) c.3210C>T c.1197C>T n.815C>T c.5512C>T (p.Leu1838=) c.5572C>T (p.Leu1858=) c.5527C>T (p.Leu1843=) c.5608C>T (p.Leu1870=) c.5563C>T (p.Leu1855=) c.5548C>T (p.Leu1850=) | |
| 9 | g.128618096T>A | CA375077405 | SPTAN1 | c.5624T>A (p.Leu1875Gln) c.5588T>A (p.Leu1863Gln) c.5051T>A (p.Leu1684Gln) c.3211T>A c.1198T>A n.816T>A c.5513T>A (p.Leu1838Gln) c.5573T>A (p.Leu1858Gln) c.5528T>A (p.Leu1843Gln) c.5609T>A (p.Leu1870Gln) c.5564T>A (p.Leu1855Gln) c.5549T>A (p.Leu1850Gln) | |
| 9 | g.128618096T>C | CA375077407 | SPTAN1 | c.5624T>C (p.Leu1875Pro) c.5588T>C (p.Leu1863Pro) c.5051T>C (p.Leu1684Pro) c.3211T>C c.1198T>C n.816T>C c.5513T>C (p.Leu1838Pro) c.5573T>C (p.Leu1858Pro) c.5528T>C (p.Leu1843Pro) c.5609T>C (p.Leu1870Pro) c.5564T>C (p.Leu1855Pro) c.5549T>C (p.Leu1850Pro) | |
| 9 | g.128618096T>G | CA375077409 | SPTAN1 | c.5624T>G (p.Leu1875Arg) c.5588T>G (p.Leu1863Arg) c.5051T>G (p.Leu1684Arg) c.3211T>G c.1198T>G n.816T>G c.5513T>G (p.Leu1838Arg) c.5573T>G (p.Leu1858Arg) c.5528T>G (p.Leu1843Arg) c.5609T>G (p.Leu1870Arg) c.5564T>G (p.Leu1855Arg) c.5549T>G (p.Leu1850Arg) | |
| 9 | g.128618097G>A | CA467303996 | SPTAN1 | c.5625G>A (p.Leu1875=) c.5589G>A (p.Leu1863=) c.5052G>A (p.Leu1684=) c.3212G>A c.1199G>A n.817G>A c.5514G>A (p.Leu1838=) c.5574G>A (p.Leu1858=) c.5529G>A (p.Leu1843=) c.5610G>A (p.Leu1870=) c.5565G>A (p.Leu1855=) c.5550G>A (p.Leu1850=) | |
| 9 | g.128618097G>C | CA467303997 | SPTAN1 | c.5625G>C (p.Leu1875=) c.5589G>C (p.Leu1863=) c.5052G>C (p.Leu1684=) c.3212G>C c.1199G>C n.817G>C c.5514G>C (p.Leu1838=) c.5574G>C (p.Leu1858=) c.5529G>C (p.Leu1843=) c.5610G>C (p.Leu1870=) c.5565G>C (p.Leu1855=) c.5550G>C (p.Leu1850=) | |
| 9 | g.128618097G>T | CA467303998 | SPTAN1 | c.5625G>T (p.Leu1875=) c.5589G>T (p.Leu1863=) c.5052G>T (p.Leu1684=) c.3212G>T c.1199G>T n.817G>T c.5514G>T (p.Leu1838=) c.5574G>T (p.Leu1858=) c.5529G>T (p.Leu1843=) c.5610G>T (p.Leu1870=) c.5565G>T (p.Leu1855=) c.5550G>T (p.Leu1850=) | |
| 9 | g.128618098G>A | CA375077413 | SPTAN1 | c.5626G>A (p.Ala1876Thr) c.5590G>A (p.Ala1864Thr) c.5053G>A (p.Ala1685Thr) c.3213G>A c.1200G>A n.818G>A c.5515G>A (p.Ala1839Thr) c.5575G>A (p.Ala1859Thr) c.5530G>A (p.Ala1844Thr) c.5611G>A (p.Ala1871Thr) c.5566G>A (p.Ala1856Thr) c.5551G>A (p.Ala1851Thr) | gnomAD v4 |
| 9 | g.128618098G>C | CA375077414 | SPTAN1 | c.5626G>C (p.Ala1876Pro) c.5590G>C (p.Ala1864Pro) c.5053G>C (p.Ala1685Pro) c.3213G>C c.1200G>C n.818G>C c.5515G>C (p.Ala1839Pro) c.5575G>C (p.Ala1859Pro) c.5530G>C (p.Ala1844Pro) c.5611G>C (p.Ala1871Pro) c.5566G>C (p.Ala1856Pro) c.5551G>C (p.Ala1851Pro) | |
| 9 | g.128618098G>T | CA375077416 | SPTAN1 | c.5626G>T (p.Ala1876Ser) c.5590G>T (p.Ala1864Ser) c.5053G>T (p.Ala1685Ser) c.3213G>T c.1200G>T n.818G>T c.5515G>T (p.Ala1839Ser) c.5575G>T (p.Ala1859Ser) c.5530G>T (p.Ala1844Ser) c.5611G>T (p.Ala1871Ser) c.5566G>T (p.Ala1856Ser) c.5551G>T (p.Ala1851Ser) | |
| 9 | g.128618099C>A | CA375077418 | SPTAN1 | c.5627C>A (p.Ala1876Glu) c.5591C>A (p.Ala1864Glu) c.5054C>A (p.Ala1685Glu) c.3214C>A c.1201C>A n.819C>A c.5516C>A (p.Ala1839Glu) c.5576C>A (p.Ala1859Glu) c.5531C>A (p.Ala1844Glu) c.5612C>A (p.Ala1871Glu) c.5567C>A (p.Ala1856Glu) c.5552C>A (p.Ala1851Glu) | |
| 9 | g.128618099C>G | CA375077420 | SPTAN1 | c.5627C>G (p.Ala1876Gly) c.5591C>G (p.Ala1864Gly) c.5054C>G (p.Ala1685Gly) c.3214C>G c.1201C>G n.819C>G c.5516C>G (p.Ala1839Gly) c.5576C>G (p.Ala1859Gly) c.5531C>G (p.Ala1844Gly) c.5612C>G (p.Ala1871Gly) c.5567C>G (p.Ala1856Gly) c.5552C>G (p.Ala1851Gly) | gnomAD v4 |
| 9 | g.128618099C>T | CA375077422 | SPTAN1 | c.5627C>T (p.Ala1876Val) c.5591C>T (p.Ala1864Val) c.5054C>T (p.Ala1685Val) c.3214C>T c.1201C>T n.819C>T c.5516C>T (p.Ala1839Val) c.5576C>T (p.Ala1859Val) c.5531C>T (p.Ala1844Val) c.5612C>T (p.Ala1871Val) c.5567C>T (p.Ala1856Val) c.5552C>T (p.Ala1851Val) | gnomAD v4 |
| 9 | g.128618100A= | CA1880364368 | SPTAN1 | c.5628A= (p.Ala1876=) c.5592A= (p.Ala1864=) c.5055A= (p.Ala1685=) c.3215A= c.1202A= n.820A= c.5517A= (p.Ala1839=) c.5577A= (p.Ala1859=) c.5532A= (p.Ala1844=) c.5613A= (p.Ala1871=) c.5568A= (p.Ala1856=) c.5553A= (p.Ala1851=) | |
| 9 | g.128618100A>C | CA467303999 | SPTAN1 | c.5628A>C (p.Ala1876=) c.5592A>C (p.Ala1864=) c.5055A>C (p.Ala1685=) c.3215A>C c.1202A>C n.820A>C c.5517A>C (p.Ala1839=) c.5577A>C (p.Ala1859=) c.5532A>C (p.Ala1844=) c.5613A>C (p.Ala1871=) c.5568A>C (p.Ala1856=) c.5553A>C (p.Ala1851=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.128618100A>G | CA467304000 | SPTAN1 | c.5628A>G (p.Ala1876=) c.5592A>G (p.Ala1864=) c.5055A>G (p.Ala1685=) c.3215A>G c.1202A>G n.820A>G c.5517A>G (p.Ala1839=) c.5577A>G (p.Ala1859=) c.5532A>G (p.Ala1844=) c.5613A>G (p.Ala1871=) c.5568A>G (p.Ala1856=) c.5553A>G (p.Ala1851=) | ClinVar dbSNP |
| 9 | g.128618100A>T | CA467304001 | SPTAN1 | c.5628A>T (p.Ala1876=) c.5592A>T (p.Ala1864=) c.5055A>T (p.Ala1685=) c.3215A>T c.1202A>T n.820A>T c.5517A>T (p.Ala1839=) c.5577A>T (p.Ala1859=) c.5532A>T (p.Ala1844=) c.5613A>T (p.Ala1871=) c.5568A>T (p.Ala1856=) c.5553A>T (p.Ala1851=) | |
| 9 | g.128618101G>A | CA375077425 | SPTAN1 | c.5629G>A (p.Ala1877Thr) c.5593G>A (p.Ala1865Thr) c.5056G>A (p.Ala1686Thr) c.3216G>A c.1203G>A n.821G>A c.5518G>A (p.Ala1840Thr) c.5578G>A (p.Ala1860Thr) c.5533G>A (p.Ala1845Thr) c.5614G>A (p.Ala1872Thr) c.5569G>A (p.Ala1857Thr) c.5554G>A (p.Ala1852Thr) | dbSNP |
| 9 | g.128618101G>C | CA375077427 | SPTAN1 | c.5629G>C (p.Ala1877Pro) c.5593G>C (p.Ala1865Pro) c.5056G>C (p.Ala1686Pro) c.3216G>C c.1203G>C n.821G>C c.5518G>C (p.Ala1840Pro) c.5578G>C (p.Ala1860Pro) c.5533G>C (p.Ala1845Pro) c.5614G>C (p.Ala1872Pro) c.5569G>C (p.Ala1857Pro) c.5554G>C (p.Ala1852Pro) | |
| 9 | g.128618101G>T | CA375077429 | SPTAN1 | c.5629G>T (p.Ala1877Ser) c.5593G>T (p.Ala1865Ser) c.5056G>T (p.Ala1686Ser) c.3216G>T c.1203G>T n.821G>T c.5518G>T (p.Ala1840Ser) c.5578G>T (p.Ala1860Ser) c.5533G>T (p.Ala1845Ser) c.5614G>T (p.Ala1872Ser) c.5569G>T (p.Ala1857Ser) c.5554G>T (p.Ala1852Ser) | COSMIC COSMIC |
| 9 | g.128618102C>A | CA375077438 | SPTAN1 | c.5630C>A (p.Ala1877Asp) c.5594C>A (p.Ala1865Asp) c.5057C>A (p.Ala1686Asp) c.3217C>A c.1204C>A n.822C>A c.5519C>A (p.Ala1840Asp) c.5579C>A (p.Ala1860Asp) c.5534C>A (p.Ala1845Asp) c.5615C>A (p.Ala1872Asp) c.5570C>A (p.Ala1857Asp) c.5555C>A (p.Ala1852Asp) | ClinVar dbSNP |
| 9 | g.128618102C= | CA1880364369 | SPTAN1 | c.5630C= (p.Ala1877=) c.5594C= (p.Ala1865=) c.5057C= (p.Ala1686=) c.3217C= c.1204C= n.822C= c.5519C= (p.Ala1840=) c.5579C= (p.Ala1860=) c.5534C= (p.Ala1845=) c.5615C= (p.Ala1872=) c.5570C= (p.Ala1857=) c.5555C= (p.Ala1852=) | |
| 9 | g.128618102C>G | CA375077435 | SPTAN1 | c.5630C>G (p.Ala1877Gly) c.5594C>G (p.Ala1865Gly) c.5057C>G (p.Ala1686Gly) c.3217C>G c.1204C>G n.822C>G c.5519C>G (p.Ala1840Gly) c.5579C>G (p.Ala1860Gly) c.5534C>G (p.Ala1845Gly) c.5615C>G (p.Ala1872Gly) c.5570C>G (p.Ala1857Gly) c.5555C>G (p.Ala1852Gly) | |
| 9 | g.128618102C>T | CA375077433 | SPTAN1 | c.5630C>T (p.Ala1877Val) c.5594C>T (p.Ala1865Val) c.5057C>T (p.Ala1686Val) c.3217C>T c.1204C>T n.822C>T c.5519C>T (p.Ala1840Val) c.5579C>T (p.Ala1860Val) c.5534C>T (p.Ala1845Val) c.5615C>T (p.Ala1872Val) c.5570C>T (p.Ala1857Val) c.5555C>T (p.Ala1852Val) | |
| 9 | g.128618103T>A | CA467304002 | SPTAN1 | c.5631T>A (p.Ala1877=) c.5595T>A (p.Ala1865=) c.5058T>A (p.Ala1686=) c.3218T>A c.1205T>A n.823T>A c.5520T>A (p.Ala1840=) c.5580T>A (p.Ala1860=) c.5535T>A (p.Ala1845=) c.5616T>A (p.Ala1872=) c.5571T>A (p.Ala1857=) c.5556T>A (p.Ala1852=) | |
| 9 | g.128618103T>C | CA467304003 | SPTAN1 | c.5631T>C (p.Ala1877=) c.5595T>C (p.Ala1865=) c.5058T>C (p.Ala1686=) c.3218T>C c.1205T>C n.823T>C c.5520T>C (p.Ala1840=) c.5580T>C (p.Ala1860=) c.5535T>C (p.Ala1845=) c.5616T>C (p.Ala1872=) c.5571T>C (p.Ala1857=) c.5556T>C (p.Ala1852=) | gnomAD v4 |
| 9 | g.128618103T>G | CA467304004 | SPTAN1 | c.5631T>G (p.Ala1877=) c.5595T>G (p.Ala1865=) c.5058T>G (p.Ala1686=) c.3218T>G c.1205T>G n.823T>G c.5520T>G (p.Ala1840=) c.5580T>G (p.Ala1860=) c.5535T>G (p.Ala1845=) c.5616T>G (p.Ala1872=) c.5571T>G (p.Ala1857=) c.5556T>G (p.Ala1852=) | |
| 9 | g.128618104G>A | CA375077441 | SPTAN1 | c.5632G>A (p.Ala1878Thr) c.5596G>A (p.Ala1866Thr) c.5059G>A (p.Ala1687Thr) c.3219G>A c.1206G>A n.824G>A c.5521G>A (p.Ala1841Thr) c.5581G>A (p.Ala1861Thr) c.5536G>A (p.Ala1846Thr) c.5617G>A (p.Ala1873Thr) c.5572G>A (p.Ala1858Thr) c.5557G>A (p.Ala1853Thr) | |
| 9 | g.128618104G>C | CA375077444 | SPTAN1 | c.5632G>C (p.Ala1878Pro) c.5596G>C (p.Ala1866Pro) c.5059G>C (p.Ala1687Pro) c.3219G>C c.1206G>C n.824G>C c.5521G>C (p.Ala1841Pro) c.5581G>C (p.Ala1861Pro) c.5536G>C (p.Ala1846Pro) c.5617G>C (p.Ala1873Pro) c.5572G>C (p.Ala1858Pro) c.5557G>C (p.Ala1853Pro) | |
| 9 | g.128618104G>T | CA375077442 | SPTAN1 | c.5632G>T (p.Ala1878Ser) c.5596G>T (p.Ala1866Ser) c.5059G>T (p.Ala1687Ser) c.3219G>T c.1206G>T n.824G>T c.5521G>T (p.Ala1841Ser) c.5581G>T (p.Ala1861Ser) c.5536G>T (p.Ala1846Ser) c.5617G>T (p.Ala1873Ser) c.5572G>T (p.Ala1858Ser) c.5557G>T (p.Ala1853Ser) | |
| 9 | g.128618105C>A | CA375077447 | SPTAN1 | c.5633C>A (p.Ala1878Asp) c.5597C>A (p.Ala1866Asp) c.5060C>A (p.Ala1687Asp) c.3220C>A c.1207C>A n.825C>A c.5522C>A (p.Ala1841Asp) c.5582C>A (p.Ala1861Asp) c.5537C>A (p.Ala1846Asp) c.5618C>A (p.Ala1873Asp) c.5573C>A (p.Ala1858Asp) c.5558C>A (p.Ala1853Asp) | |
| 9 | g.128618105C>G | CA375077453 | SPTAN1 | c.5633C>G (p.Ala1878Gly) c.5597C>G (p.Ala1866Gly) c.5060C>G (p.Ala1687Gly) c.3220C>G c.1207C>G n.825C>G c.5522C>G (p.Ala1841Gly) c.5582C>G (p.Ala1861Gly) c.5537C>G (p.Ala1846Gly) c.5618C>G (p.Ala1873Gly) c.5573C>G (p.Ala1858Gly) c.5558C>G (p.Ala1853Gly) | |
| 9 | g.128618105C>T | CA375077450 | SPTAN1 | c.5633C>T (p.Ala1878Val) c.5597C>T (p.Ala1866Val) c.5060C>T (p.Ala1687Val) c.3220C>T c.1207C>T n.825C>T c.5522C>T (p.Ala1841Val) c.5582C>T (p.Ala1861Val) c.5537C>T (p.Ala1846Val) c.5618C>T (p.Ala1873Val) c.5573C>T (p.Ala1858Val) c.5558C>T (p.Ala1853Val) | COSMIC COSMIC |
| 9 | g.128618106C>A | CA467304005 | SPTAN1 | c.5634C>A (p.Ala1878=) c.5598C>A (p.Ala1866=) c.5061C>A (p.Ala1687=) c.3221C>A c.1208C>A n.826C>A c.5523C>A (p.Ala1841=) c.5583C>A (p.Ala1861=) c.5538C>A (p.Ala1846=) c.5619C>A (p.Ala1873=) c.5574C>A (p.Ala1858=) c.5559C>A (p.Ala1853=) | |
| 9 | g.128618106C>G | CA467304007 | SPTAN1 | c.5634C>G (p.Ala1878=) c.5598C>G (p.Ala1866=) c.5061C>G (p.Ala1687=) c.3221C>G c.1208C>G n.826C>G c.5523C>G (p.Ala1841=) c.5583C>G (p.Ala1861=) c.5538C>G (p.Ala1846=) c.5619C>G (p.Ala1873=) c.5574C>G (p.Ala1858=) c.5559C>G (p.Ala1853=) | |
| 9 | g.128618106C>T | CA467304006 | SPTAN1 | c.5634C>T (p.Ala1878=) c.5598C>T (p.Ala1866=) c.5061C>T (p.Ala1687=) c.3221C>T c.1208C>T n.826C>T c.5523C>T (p.Ala1841=) c.5583C>T (p.Ala1861=) c.5538C>T (p.Ala1846=) c.5619C>T (p.Ala1873=) c.5574C>T (p.Ala1858=) c.5559C>T (p.Ala1853=) | |
| 9 | g.128618107C>A | CA467304008 | SPTAN1 | c.5635C>A (p.Arg1879=) c.5599C>A (p.Arg1867=) c.5062C>A (p.Arg1688=) c.3222C>A c.1209C>A n.827C>A c.5524C>A (p.Arg1842=) c.5584C>A (p.Arg1862=) c.5539C>A (p.Arg1847=) c.5620C>A (p.Arg1874=) c.5575C>A (p.Arg1859=) c.5560C>A (p.Arg1854=) | |
| 9 | g.128618107C>G | CA375077455 | SPTAN1 | c.5635C>G (p.Arg1879Gly) c.5599C>G (p.Arg1867Gly) c.5062C>G (p.Arg1688Gly) c.3222C>G c.1209C>G n.827C>G c.5524C>G (p.Arg1842Gly) c.5584C>G (p.Arg1862Gly) c.5539C>G (p.Arg1847Gly) c.5620C>G (p.Arg1874Gly) c.5575C>G (p.Arg1859Gly) c.5560C>G (p.Arg1854Gly) | |
| 9 | g.128618107C>T | CA375077458 | SPTAN1 | c.5635C>T (p.Arg1879Trp) c.5599C>T (p.Arg1867Trp) c.5062C>T (p.Arg1688Trp) c.3222C>T c.1209C>T n.827C>T c.5524C>T (p.Arg1842Trp) c.5584C>T (p.Arg1862Trp) c.5539C>T (p.Arg1847Trp) c.5620C>T (p.Arg1874Trp) c.5575C>T (p.Arg1859Trp) c.5560C>T (p.Arg1854Trp) | gnomAD v4 |
| 9 | g.128618108G>A | CA375077465 | SPTAN1 | c.5636G>A (p.Arg1879Gln) c.5600G>A (p.Arg1867Gln) c.5063G>A (p.Arg1688Gln) c.3223G>A c.1210G>A n.828G>A c.5525G>A (p.Arg1842Gln) c.5585G>A (p.Arg1862Gln) c.5540G>A (p.Arg1847Gln) c.5621G>A (p.Arg1874Gln) c.5576G>A (p.Arg1859Gln) c.5561G>A (p.Arg1854Gln) | dbSNP COSMIC COSMIC |
| 9 | g.128618108G>C | CA375077467 | SPTAN1 | c.5636G>C (p.Arg1879Pro) c.5600G>C (p.Arg1867Pro) c.5063G>C (p.Arg1688Pro) c.3223G>C c.1210G>C n.828G>C c.5525G>C (p.Arg1842Pro) c.5585G>C (p.Arg1862Pro) c.5540G>C (p.Arg1847Pro) c.5621G>C (p.Arg1874Pro) c.5576G>C (p.Arg1859Pro) c.5561G>C (p.Arg1854Pro) | |
| 9 | g.128618108G= | CA1880364370 | SPTAN1 | c.5636G= (p.Arg1879=) c.5600G= (p.Arg1867=) c.5063G= (p.Arg1688=) c.3223G= c.1210G= n.828G= c.5525G= (p.Arg1842=) c.5585G= (p.Arg1862=) c.5540G= (p.Arg1847=) c.5621G= (p.Arg1874=) c.5576G= (p.Arg1859=) c.5561G= (p.Arg1854=) | |
| 9 | g.128618108G>T | CA375077470 | SPTAN1 | c.5636G>T (p.Arg1879Leu) c.5600G>T (p.Arg1867Leu) c.5063G>T (p.Arg1688Leu) c.3223G>T c.1210G>T n.828G>T c.5525G>T (p.Arg1842Leu) c.5585G>T (p.Arg1862Leu) c.5540G>T (p.Arg1847Leu) c.5621G>T (p.Arg1874Leu) c.5576G>T (p.Arg1859Leu) c.5561G>T (p.Arg1854Leu) | |
| 9 | g.128618109G>A | CA375077473 | SPTAN1 | c.5636+1G>A (n.5636+1G>A) c.5600+1G>A (n.5600+1G>A) c.5063+1G>A (n.5063+1G>A) c.3223+1G>A c.1210+1G>A n.828+1G>A c.5525+1G>A (n.5525+1G>A) c.5585+1G>A (n.5585+1G>A) c.5540+1G>A (n.5540+1G>A) c.5621+1G>A (n.5621+1G>A) c.5576+1G>A (n.5576+1G>A) c.5561+1G>A (n.5561+1G>A) | dbSNP gnomAD v2 |
| 9 | g.128618109G>C | CA375077476 | SPTAN1 | c.5636+1G>C (n.5636+1G>C) c.5600+1G>C (n.5600+1G>C) c.5063+1G>C (n.5063+1G>C) c.3223+1G>C c.1210+1G>C n.828+1G>C c.5525+1G>C (n.5525+1G>C) c.5585+1G>C (n.5585+1G>C) c.5540+1G>C (n.5540+1G>C) c.5621+1G>C (n.5621+1G>C) c.5576+1G>C (n.5576+1G>C) c.5561+1G>C (n.5561+1G>C) | |
| 9 | g.128618109G= | CA1880364371 | SPTAN1 | c.5636+1G= (n.5636+1G=) c.5600+1G= (n.5600+1G=) c.5063+1G= (n.5063+1G=) c.3223+1G= c.1210+1G= n.828+1G= c.5525+1G= (n.5525+1G=) c.5585+1G= (n.5585+1G=) c.5540+1G= (n.5540+1G=) c.5621+1G= (n.5621+1G=) c.5576+1G= (n.5576+1G=) c.5561+1G= (n.5561+1G=) | |
| 9 | g.128618109G>T | CA375077478 | SPTAN1 | c.5636+1G>T (n.5636+1G>T) c.5600+1G>T (n.5600+1G>T) c.5063+1G>T (n.5063+1G>T) c.3223+1G>T c.1210+1G>T n.828+1G>T c.5525+1G>T (n.5525+1G>T) c.5585+1G>T (n.5585+1G>T) c.5540+1G>T (n.5540+1G>T) c.5621+1G>T (n.5621+1G>T) c.5576+1G>T (n.5576+1G>T) c.5561+1G>T (n.5561+1G>T) | |
| 9 | g.128618110T>A | CA375077481 | SPTAN1 | c.5636+2T>A (n.5636+2T>A) c.5600+2T>A (n.5600+2T>A) c.5063+2T>A (n.5063+2T>A) c.3223+2T>A c.1210+2T>A n.828+2T>A c.5525+2T>A (n.5525+2T>A) c.5585+2T>A (n.5585+2T>A) c.5540+2T>A (n.5540+2T>A) c.5621+2T>A (n.5621+2T>A) c.5576+2T>A (n.5576+2T>A) c.5561+2T>A (n.5561+2T>A) | |
| 9 | g.128618110T>C | CA375077484 | SPTAN1 | c.5636+2T>C (n.5636+2T>C) c.5600+2T>C (n.5600+2T>C) c.5063+2T>C (n.5063+2T>C) c.3223+2T>C c.1210+2T>C n.828+2T>C c.5525+2T>C (n.5525+2T>C) c.5585+2T>C (n.5585+2T>C) c.5540+2T>C (n.5540+2T>C) c.5621+2T>C (n.5621+2T>C) c.5576+2T>C (n.5576+2T>C) c.5561+2T>C (n.5561+2T>C) | |
| 9 | g.128618110T>G | CA375077486 | SPTAN1 | c.5636+2T>G (n.5636+2T>G) c.5600+2T>G (n.5600+2T>G) c.5063+2T>G (n.5063+2T>G) c.3223+2T>G c.1210+2T>G n.828+2T>G c.5525+2T>G (n.5525+2T>G) c.5585+2T>G (n.5585+2T>G) c.5540+2T>G (n.5540+2T>G) c.5621+2T>G (n.5621+2T>G) c.5576+2T>G (n.5576+2T>G) c.5561+2T>G (n.5561+2T>G) | |
| 9 | g.128618111G>A | CA590638800 | SPTAN1 | c.5636+3G>A (n.5636+3G>A) c.5600+3G>A (n.5600+3G>A) c.5063+3G>A (n.5063+3G>A) c.3223+3G>A c.1210+3G>A n.828+3G>A c.5525+3G>A (n.5525+3G>A) c.5585+3G>A (n.5585+3G>A) c.5540+3G>A (n.5540+3G>A) c.5621+3G>A (n.5621+3G>A) c.5576+3G>A (n.5576+3G>A) c.5561+3G>A (n.5561+3G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128618111G= | CA1880364372 | SPTAN1 | c.5636+3G= (n.5636+3G=) c.5600+3G= (n.5600+3G=) c.5063+3G= (n.5063+3G=) c.3223+3G= c.1210+3G= n.828+3G= c.5525+3G= (n.5525+3G=) c.5585+3G= (n.5585+3G=) c.5540+3G= (n.5540+3G=) c.5621+3G= (n.5621+3G=) c.5576+3G= (n.5576+3G=) c.5561+3G= (n.5561+3G=) | |
| 9 | g.128618113G>A | CA2532638720 | SPTAN1 | c.5636+5G>A (n.5636+5G>A) c.5600+5G>A (n.5600+5G>A) c.5063+5G>A (n.5063+5G>A) c.3223+5G>A c.1210+5G>A n.828+5G>A c.5525+5G>A (n.5525+5G>A) c.5585+5G>A (n.5585+5G>A) c.5540+5G>A (n.5540+5G>A) c.5621+5G>A (n.5621+5G>A) c.5576+5G>A (n.5576+5G>A) c.5561+5G>A (n.5561+5G>A) | gnomAD v4 |
| 9 | g.128618113G>C | CA1880364374 | SPTAN1 | c.5636+5G>C (n.5636+5G>C) c.5600+5G>C (n.5600+5G>C) c.5063+5G>C (n.5063+5G>C) c.3223+5G>C c.1210+5G>C n.828+5G>C c.5525+5G>C (n.5525+5G>C) c.5585+5G>C (n.5585+5G>C) c.5540+5G>C (n.5540+5G>C) c.5621+5G>C (n.5621+5G>C) c.5576+5G>C (n.5576+5G>C) c.5561+5G>C (n.5561+5G>C) | dbSNP |
| 9 | g.128618113G= | CA1880364373 | SPTAN1 | c.5636+5G= (n.5636+5G=) c.5600+5G= (n.5600+5G=) c.5063+5G= (n.5063+5G=) c.3223+5G= c.1210+5G= n.828+5G= c.5525+5G= (n.5525+5G=) c.5585+5G= (n.5585+5G=) c.5540+5G= (n.5540+5G=) c.5621+5G= (n.5621+5G=) c.5576+5G= (n.5576+5G=) c.5561+5G= (n.5561+5G=) | |
| 9 | g.128618116G>C | CA5265504 | SPTAN1 | c.5636+8G>C (n.5636+8G>C) c.5600+8G>C (n.5600+8G>C) c.5063+8G>C (n.5063+8G>C) c.3223+8G>C c.1210+8G>C n.828+8G>C c.5525+8G>C (n.5525+8G>C) c.5585+8G>C (n.5585+8G>C) c.5540+8G>C (n.5540+8G>C) c.5621+8G>C (n.5621+8G>C) c.5576+8G>C (n.5576+8G>C) c.5561+8G>C (n.5561+8G>C) | dbSNP ExAC gnomAD v2 |
| 9 | g.128618116G= | CA1880364375 | SPTAN1 | c.5636+8G= (n.5636+8G=) c.5600+8G= (n.5600+8G=) c.5063+8G= (n.5063+8G=) c.3223+8G= c.1210+8G= n.828+8G= c.5525+8G= (n.5525+8G=) c.5585+8G= (n.5585+8G=) c.5540+8G= (n.5540+8G=) c.5621+8G= (n.5621+8G=) c.5576+8G= (n.5576+8G=) c.5561+8G= (n.5561+8G=) | |
| 9 | g.128618118C>T | CA2691935628 | SPTAN1 | c.5636+10C>T (n.5636+10C>T) c.5600+10C>T (n.5600+10C>T) c.5063+10C>T (n.5063+10C>T) c.3223+10C>T c.1210+10C>T n.828+10C>T c.5525+10C>T (n.5525+10C>T) c.5585+10C>T (n.5585+10C>T) c.5540+10C>T (n.5540+10C>T) c.5621+10C>T (n.5621+10C>T) c.5576+10C>T (n.5576+10C>T) c.5561+10C>T (n.5561+10C>T) | gnomAD v4 |
| 9 | g.128618118_128618120delinsCAG | CA1880364376 | SPTAN1 | c.5636+10_5636+12delinsCAG (n.5636+10_5636+12delinsCAG) c.5600+10_5600+12delinsCAG (n.5600+10_5600+12delinsCAG) c.5063+10_5063+12delinsCAG (n.5063+10_5063+12delinsCAG) c.3223+10_3223+12delinsCAG c.1210+10_1210+12delinsCAG n.828+10_828+12delinsCAG c.5525+10_5525+12delinsCAG (n.5525+10_5525+12delinsCAG) c.5585+10_5585+12delinsCAG (n.5585+10_5585+12delinsCAG) c.5540+10_5540+12delinsCAG (n.5540+10_5540+12delinsCAG) c.5621+10_5621+12delinsCAG (n.5621+10_5621+12delinsCAG) c.5576+10_5576+12delinsCAG (n.5576+10_5576+12delinsCAG) c.5561+10_5561+12delinsCAG (n.5561+10_5561+12delinsCAG) | |
| 9 | g.128618121_128618122del | CA200401786 | SPTAN1 | c.5636+13_5636+14del (n.5636+13_5636+14del) c.5600+13_5600+14del (n.5600+13_5600+14del) c.5063+13_5063+14del (n.5063+13_5063+14del) c.3223+13_3223+14del c.1210+13_1210+14del n.828+13_828+14del c.5525+13_5525+14del (n.5525+13_5525+14del) c.5585+13_5585+14del (n.5585+13_5585+14del) c.5540+13_5540+14del (n.5540+13_5540+14del) c.5621+13_5621+14del (n.5621+13_5621+14del) c.5576+13_5576+14del (n.5576+13_5576+14del) c.5561+13_5561+14del (n.5561+13_5561+14del) | dbSNP |
| 9 | g.128618121A= | CA1880364377 | SPTAN1 | c.5636+13A= (n.5636+13A=) c.5600+13A= (n.5600+13A=) c.5063+13A= (n.5063+13A=) c.3223+13A= c.1210+13A= n.828+13A= c.5525+13A= (n.5525+13A=) c.5585+13A= (n.5585+13A=) c.5540+13A= (n.5540+13A=) c.5621+13A= (n.5621+13A=) c.5576+13A= (n.5576+13A=) c.5561+13A= (n.5561+13A=) | |
| 9 | g.128618121A>G | CA860270518 | SPTAN1 | c.5636+13A>G (n.5636+13A>G) c.5600+13A>G (n.5600+13A>G) c.5063+13A>G (n.5063+13A>G) c.3223+13A>G c.1210+13A>G n.828+13A>G c.5525+13A>G (n.5525+13A>G) c.5585+13A>G (n.5585+13A>G) c.5540+13A>G (n.5540+13A>G) c.5621+13A>G (n.5621+13A>G) c.5576+13A>G (n.5576+13A>G) c.5561+13A>G (n.5561+13A>G) | dbSNP gnomAD v4 |
| 9 | g.128618122G= | CA1880364378 | SPTAN1 | c.5636+14G= (n.5636+14G=) c.5600+14G= (n.5600+14G=) c.5063+14G= (n.5063+14G=) c.3223+14G= c.1210+14G= n.828+14G= c.5525+14G= (n.5525+14G=) c.5585+14G= (n.5585+14G=) c.5540+14G= (n.5540+14G=) c.5621+14G= (n.5621+14G=) c.5576+14G= (n.5576+14G=) c.5561+14G= (n.5561+14G=) | |
| 9 | g.128618122G>T | CA860270533 | SPTAN1 | c.5636+14G>T (n.5636+14G>T) c.5600+14G>T (n.5600+14G>T) c.5063+14G>T (n.5063+14G>T) c.3223+14G>T c.1210+14G>T n.828+14G>T c.5525+14G>T (n.5525+14G>T) c.5585+14G>T (n.5585+14G>T) c.5540+14G>T (n.5540+14G>T) c.5621+14G>T (n.5621+14G>T) c.5576+14G>T (n.5576+14G>T) c.5561+14G>T (n.5561+14G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.128618123G>T | CA2573143915 | SPTAN1 | c.5636+15G>T (n.5636+15G>T) c.5600+15G>T (n.5600+15G>T) c.5063+15G>T (n.5063+15G>T) c.3223+15G>T c.1210+15G>T n.828+15G>T c.5525+15G>T (n.5525+15G>T) c.5585+15G>T (n.5585+15G>T) c.5540+15G>T (n.5540+15G>T) c.5621+15G>T (n.5621+15G>T) c.5576+15G>T (n.5576+15G>T) c.5561+15G>T (n.5561+15G>T) | ClinVar dbSNP gnomAD v4 |
| 9 | g.128618124C>A | CA2691935629 | SPTAN1 | c.5636+16C>A (n.5636+16C>A) c.5600+16C>A (n.5600+16C>A) c.5063+16C>A (n.5063+16C>A) c.3223+16C>A c.1210+16C>A n.828+16C>A c.5525+16C>A (n.5525+16C>A) c.5585+16C>A (n.5585+16C>A) c.5540+16C>A (n.5540+16C>A) c.5621+16C>A (n.5621+16C>A) c.5576+16C>A (n.5576+16C>A) c.5561+16C>A (n.5561+16C>A) | gnomAD v4 |
| 9 | g.128618125A= | CA1880364379 | SPTAN1 | c.5636+17A= (n.5636+17A=) c.5600+17A= (n.5600+17A=) c.5063+17A= (n.5063+17A=) c.3223+17A= c.1210+17A= n.828+17A= c.5525+17A= (n.5525+17A=) c.5585+17A= (n.5585+17A=) c.5540+17A= (n.5540+17A=) c.5621+17A= (n.5621+17A=) c.5576+17A= (n.5576+17A=) c.5561+17A= (n.5561+17A=) | |
| 9 | g.128618125A>G | CA1129336819 | SPTAN1 | c.5636+17A>G (n.5636+17A>G) c.5600+17A>G (n.5600+17A>G) c.5063+17A>G (n.5063+17A>G) c.3223+17A>G c.1210+17A>G n.828+17A>G c.5525+17A>G (n.5525+17A>G) c.5585+17A>G (n.5585+17A>G) c.5540+17A>G (n.5540+17A>G) c.5621+17A>G (n.5621+17A>G) c.5576+17A>G (n.5576+17A>G) c.5561+17A>G (n.5561+17A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.128618127G>A | CA2691935630 | SPTAN1 | c.5636+19G>A (n.5636+19G>A) c.5600+19G>A (n.5600+19G>A) c.5063+19G>A (n.5063+19G>A) c.3223+19G>A c.1210+19G>A n.828+19G>A c.5525+19G>A (n.5525+19G>A) c.5585+19G>A (n.5585+19G>A) c.5540+19G>A (n.5540+19G>A) c.5621+19G>A (n.5621+19G>A) c.5576+19G>A (n.5576+19G>A) c.5561+19G>A (n.5561+19G>A) | gnomAD v4 |
| 9 | g.128618128A>T | CA2691935631 | SPTAN1 | c.5636+20A>T (n.5636+20A>T) c.5600+20A>T (n.5600+20A>T) c.5063+20A>T (n.5063+20A>T) c.3223+20A>T c.1210+20A>T n.828+20A>T c.5525+20A>T (n.5525+20A>T) c.5585+20A>T (n.5585+20A>T) c.5540+20A>T (n.5540+20A>T) c.5621+20A>T (n.5621+20A>T) c.5576+20A>T (n.5576+20A>T) c.5561+20A>T (n.5561+20A>T) | gnomAD v4 |
| 9 | g.128618129G>C | CA5265505 | SPTAN1 | c.5636+21G>C (n.5636+21G>C) c.5600+21G>C (n.5600+21G>C) c.5063+21G>C (n.5063+21G>C) c.3223+21G>C c.1210+21G>C n.828+21G>C c.5525+21G>C (n.5525+21G>C) c.5585+21G>C (n.5585+21G>C) c.5540+21G>C (n.5540+21G>C) c.5621+21G>C (n.5621+21G>C) c.5576+21G>C (n.5576+21G>C) c.5561+21G>C (n.5561+21G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128618129G= | CA1880364380 | SPTAN1 | c.5636+21G= (n.5636+21G=) c.5600+21G= (n.5600+21G=) c.5063+21G= (n.5063+21G=) c.3223+21G= c.1210+21G= n.828+21G= c.5525+21G= (n.5525+21G=) c.5585+21G= (n.5585+21G=) c.5540+21G= (n.5540+21G=) c.5621+21G= (n.5621+21G=) c.5576+21G= (n.5576+21G=) c.5561+21G= (n.5561+21G=) | |
| 9 | g.128618130C>G | CA2691935632 | SPTAN1 | c.5636+22C>G (n.5636+22C>G) c.5600+22C>G (n.5600+22C>G) c.5063+22C>G (n.5063+22C>G) c.3223+22C>G c.1210+22C>G n.828+22C>G c.5525+22C>G (n.5525+22C>G) c.5585+22C>G (n.5585+22C>G) c.5540+22C>G (n.5540+22C>G) c.5621+22C>G (n.5621+22C>G) c.5576+22C>G (n.5576+22C>G) c.5561+22C>G (n.5561+22C>G) | gnomAD v4 |
| 9 | g.128618130C>T | CA2579470250 | SPTAN1 | c.5636+22C>T (n.5636+22C>T) c.5600+22C>T (n.5600+22C>T) c.5063+22C>T (n.5063+22C>T) c.3223+22C>T c.1210+22C>T n.828+22C>T c.5525+22C>T (n.5525+22C>T) c.5585+22C>T (n.5585+22C>T) c.5540+22C>T (n.5540+22C>T) c.5621+22C>T (n.5621+22C>T) c.5576+22C>T (n.5576+22C>T) c.5561+22C>T (n.5561+22C>T) | |
| 9 | g.128618131T>A | CA2691935633 | SPTAN1 | c.5636+23T>A (n.5636+23T>A) c.5600+23T>A (n.5600+23T>A) c.5063+23T>A (n.5063+23T>A) c.3223+23T>A c.1210+23T>A n.828+23T>A c.5525+23T>A (n.5525+23T>A) c.5585+23T>A (n.5585+23T>A) c.5540+23T>A (n.5540+23T>A) c.5621+23T>A (n.5621+23T>A) c.5576+23T>A (n.5576+23T>A) c.5561+23T>A (n.5561+23T>A) | gnomAD v4 |
| 9 | g.128618132C= | CA1880364381 | SPTAN1 | c.5636+24C= (n.5636+24C=) c.5600+24C= (n.5600+24C=) c.5063+24C= (n.5063+24C=) c.3223+24C= c.1210+24C= n.828+24C= c.5525+24C= (n.5525+24C=) c.5585+24C= (n.5585+24C=) c.5540+24C= (n.5540+24C=) c.5621+24C= (n.5621+24C=) c.5576+24C= (n.5576+24C=) c.5561+24C= (n.5561+24C=) | |
| 9 | g.128618132C>T | CA2691935634 | SPTAN1 | c.5636+24C>T (n.5636+24C>T) c.5600+24C>T (n.5600+24C>T) c.5063+24C>T (n.5063+24C>T) c.3223+24C>T c.1210+24C>T n.828+24C>T c.5525+24C>T (n.5525+24C>T) c.5585+24C>T (n.5585+24C>T) c.5540+24C>T (n.5540+24C>T) c.5621+24C>T (n.5621+24C>T) c.5576+24C>T (n.5576+24C>T) c.5561+24C>T (n.5561+24C>T) | gnomAD v4 |
| 9 | g.128618132_128618133insTT | CA918560843 | SPTAN1 | c.5636+24_5636+25insTT (n.5636+24_5636+25insTT) c.5600+24_5600+25insTT (n.5600+24_5600+25insTT) c.5063+24_5063+25insTT (n.5063+24_5063+25insTT) c.3223+24_3223+25insTT c.1210+24_1210+25insTT n.828+24_828+25insTT c.5525+24_5525+25insTT (n.5525+24_5525+25insTT) c.5585+24_5585+25insTT (n.5585+24_5585+25insTT) c.5540+24_5540+25insTT (n.5540+24_5540+25insTT) c.5621+24_5621+25insTT (n.5621+24_5621+25insTT) c.5576+24_5576+25insTT (n.5576+24_5576+25insTT) c.5561+24_5561+25insTT (n.5561+24_5561+25insTT) | dbSNP |
| 9 | g.128618133C>G | CA2691935635 | SPTAN1 | c.5636+25C>G (n.5636+25C>G) c.5600+25C>G (n.5600+25C>G) c.5063+25C>G (n.5063+25C>G) c.3223+25C>G c.1210+25C>G n.828+25C>G c.5525+25C>G (n.5525+25C>G) c.5585+25C>G (n.5585+25C>G) c.5540+25C>G (n.5540+25C>G) c.5621+25C>G (n.5621+25C>G) c.5576+25C>G (n.5576+25C>G) c.5561+25C>G (n.5561+25C>G) | gnomAD v4 |
| 9 | g.128618134C>A | CA5265507 | SPTAN1 | c.5636+26C>A (n.5636+26C>A) c.5600+26C>A (n.5600+26C>A) c.5063+26C>A (n.5063+26C>A) c.3223+26C>A c.1210+26C>A n.828+26C>A c.5525+26C>A (n.5525+26C>A) c.5585+26C>A (n.5585+26C>A) c.5540+26C>A (n.5540+26C>A) c.5621+26C>A (n.5621+26C>A) c.5576+26C>A (n.5576+26C>A) c.5561+26C>A (n.5561+26C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.128618134C= | CA1880364382 | SPTAN1 | c.5636+26C= (n.5636+26C=) c.5600+26C= (n.5600+26C=) c.5063+26C= (n.5063+26C=) c.3223+26C= c.1210+26C= n.828+26C= c.5525+26C= (n.5525+26C=) c.5585+26C= (n.5585+26C=) c.5540+26C= (n.5540+26C=) c.5621+26C= (n.5621+26C=) c.5576+26C= (n.5576+26C=) c.5561+26C= (n.5561+26C=) | |
| 9 | g.128618134C>T | CA5265506 | SPTAN1 | c.5636+26C>T (n.5636+26C>T) c.5600+26C>T (n.5600+26C>T) c.5063+26C>T (n.5063+26C>T) c.3223+26C>T c.1210+26C>T n.828+26C>T c.5525+26C>T (n.5525+26C>T) c.5585+26C>T (n.5585+26C>T) c.5540+26C>T (n.5540+26C>T) c.5621+26C>T (n.5621+26C>T) c.5576+26C>T (n.5576+26C>T) c.5561+26C>T (n.5561+26C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128618135G>A | CA5265508 | SPTAN1 | c.5636+27G>A (n.5636+27G>A) c.5600+27G>A (n.5600+27G>A) c.5063+27G>A (n.5063+27G>A) c.3223+27G>A c.1210+27G>A n.828+27G>A c.5525+27G>A (n.5525+27G>A) c.5585+27G>A (n.5585+27G>A) c.5540+27G>A (n.5540+27G>A) c.5621+27G>A (n.5621+27G>A) c.5576+27G>A (n.5576+27G>A) c.5561+27G>A (n.5561+27G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128618135G= | CA1880364383 | SPTAN1 | c.5636+27G= (n.5636+27G=) c.5600+27G= (n.5600+27G=) c.5063+27G= (n.5063+27G=) c.3223+27G= c.1210+27G= n.828+27G= c.5525+27G= (n.5525+27G=) c.5585+27G= (n.5585+27G=) c.5540+27G= (n.5540+27G=) c.5621+27G= (n.5621+27G=) c.5576+27G= (n.5576+27G=) c.5561+27G= (n.5561+27G=) | |
| 9 | g.128618135G>T | CA2691935636 | SPTAN1 | c.5636+27G>T (n.5636+27G>T) c.5600+27G>T (n.5600+27G>T) c.5063+27G>T (n.5063+27G>T) c.3223+27G>T c.1210+27G>T n.828+27G>T c.5525+27G>T (n.5525+27G>T) c.5585+27G>T (n.5585+27G>T) c.5540+27G>T (n.5540+27G>T) c.5621+27G>T (n.5621+27G>T) c.5576+27G>T (n.5576+27G>T) c.5561+27G>T (n.5561+27G>T) | gnomAD v4 |
| 9 | g.128618137G>A | CA2691935637 | SPTAN1 | c.5636+29G>A (n.5636+29G>A) c.5600+29G>A (n.5600+29G>A) c.5063+29G>A (n.5063+29G>A) c.3223+29G>A c.1210+29G>A n.828+29G>A c.5525+29G>A (n.5525+29G>A) c.5585+29G>A (n.5585+29G>A) c.5540+29G>A (n.5540+29G>A) c.5621+29G>A (n.5621+29G>A) c.5576+29G>A (n.5576+29G>A) c.5561+29G>A (n.5561+29G>A) | gnomAD v4 |
| 9 | g.128618138A= | CA1880364384 | SPTAN1 | c.5636+30A= (n.5636+30A=) c.5600+30A= (n.5600+30A=) c.5063+30A= (n.5063+30A=) c.3223+30A= c.1210+30A= n.828+30A= c.5525+30A= (n.5525+30A=) c.5585+30A= (n.5585+30A=) c.5540+30A= (n.5540+30A=) c.5621+30A= (n.5621+30A=) c.5576+30A= (n.5576+30A=) c.5561+30A= (n.5561+30A=) | |
| 9 | g.128618138A>C | CA590638805 | SPTAN1 | c.5636+30A>C (n.5636+30A>C) c.5600+30A>C (n.5600+30A>C) c.5063+30A>C (n.5063+30A>C) c.3223+30A>C c.1210+30A>C n.828+30A>C c.5525+30A>C (n.5525+30A>C) c.5585+30A>C (n.5585+30A>C) c.5540+30A>C (n.5540+30A>C) c.5621+30A>C (n.5621+30A>C) c.5576+30A>C (n.5576+30A>C) c.5561+30A>C (n.5561+30A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.128618139A= | CA1880364385 | SPTAN1 | c.5636+31A= (n.5636+31A=) c.5600+31A= (n.5600+31A=) c.5063+31A= (n.5063+31A=) c.3223+31A= c.1210+31A= n.828+31A= c.5525+31A= (n.5525+31A=) c.5585+31A= (n.5585+31A=) c.5540+31A= (n.5540+31A=) c.5621+31A= (n.5621+31A=) c.5576+31A= (n.5576+31A=) c.5561+31A= (n.5561+31A=) | |
| 9 | g.128618139A>G | CA5265509 | SPTAN1 | c.5636+31A>G (n.5636+31A>G) c.5600+31A>G (n.5600+31A>G) c.5063+31A>G (n.5063+31A>G) c.3223+31A>G c.1210+31A>G n.828+31A>G c.5525+31A>G (n.5525+31A>G) c.5585+31A>G (n.5585+31A>G) c.5540+31A>G (n.5540+31A>G) c.5621+31A>G (n.5621+31A>G) c.5576+31A>G (n.5576+31A>G) c.5561+31A>G (n.5561+31A>G) | dbSNP ExAC gnomAD v2 |
| 9 | g.128618140C>A | CA1880364387 | SPTAN1 | c.5636+32C>A (n.5636+32C>A) c.5600+32C>A (n.5600+32C>A) c.5063+32C>A (n.5063+32C>A) c.3223+32C>A c.1210+32C>A n.828+32C>A c.5525+32C>A (n.5525+32C>A) c.5585+32C>A (n.5585+32C>A) c.5540+32C>A (n.5540+32C>A) c.5621+32C>A (n.5621+32C>A) c.5576+32C>A (n.5576+32C>A) c.5561+32C>A (n.5561+32C>A) | dbSNP |
| 9 | g.128618140C= | CA1880364386 | SPTAN1 | c.5636+32C= (n.5636+32C=) c.5600+32C= (n.5600+32C=) c.5063+32C= (n.5063+32C=) c.3223+32C= c.1210+32C= n.828+32C= c.5525+32C= (n.5525+32C=) c.5585+32C= (n.5585+32C=) c.5540+32C= (n.5540+32C=) c.5621+32C= (n.5621+32C=) c.5576+32C= (n.5576+32C=) c.5561+32C= (n.5561+32C=) | |
| 9 | g.128618143G>C | CA590638806 | SPTAN1 | c.5636+35G>C (n.5636+35G>C) c.5600+35G>C (n.5600+35G>C) c.5063+35G>C (n.5063+35G>C) c.3223+35G>C c.1210+35G>C n.828+35G>C c.5525+35G>C (n.5525+35G>C) c.5585+35G>C (n.5585+35G>C) c.5540+35G>C (n.5540+35G>C) c.5621+35G>C (n.5621+35G>C) c.5576+35G>C (n.5576+35G>C) c.5561+35G>C (n.5561+35G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128618143G= | CA1880364388 | SPTAN1 | c.5636+35G= (n.5636+35G=) c.5600+35G= (n.5600+35G=) c.5063+35G= (n.5063+35G=) c.3223+35G= c.1210+35G= n.828+35G= c.5525+35G= (n.5525+35G=) c.5585+35G= (n.5585+35G=) c.5540+35G= (n.5540+35G=) c.5621+35G= (n.5621+35G=) c.5576+35G= (n.5576+35G=) c.5561+35G= (n.5561+35G=) | |
| 9 | g.128618144T>C | CA5265510 | SPTAN1 | c.5636+36T>C (n.5636+36T>C) c.5600+36T>C (n.5600+36T>C) c.5063+36T>C (n.5063+36T>C) c.3223+36T>C c.1210+36T>C n.828+36T>C c.5525+36T>C (n.5525+36T>C) c.5585+36T>C (n.5585+36T>C) c.5540+36T>C (n.5540+36T>C) c.5621+36T>C (n.5621+36T>C) c.5576+36T>C (n.5576+36T>C) c.5561+36T>C (n.5561+36T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128618144T= | CA1880364389 | SPTAN1 | c.5636+36T= (n.5636+36T=) c.5600+36T= (n.5600+36T=) c.5063+36T= (n.5063+36T=) c.3223+36T= c.1210+36T= n.828+36T= c.5525+36T= (n.5525+36T=) c.5585+36T= (n.5585+36T=) c.5540+36T= (n.5540+36T=) c.5621+36T= (n.5621+36T=) c.5576+36T= (n.5576+36T=) c.5561+36T= (n.5561+36T=) | |
| 9 | g.128618145G>A | CA5265511 | SPTAN1 | c.5636+37G>A (n.5636+37G>A) c.5600+37G>A (n.5600+37G>A) c.5063+37G>A (n.5063+37G>A) c.3223+37G>A c.1210+37G>A n.828+37G>A c.5525+37G>A (n.5525+37G>A) c.5585+37G>A (n.5585+37G>A) c.5540+37G>A (n.5540+37G>A) c.5621+37G>A (n.5621+37G>A) c.5576+37G>A (n.5576+37G>A) c.5561+37G>A (n.5561+37G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.128618145G= | CA1880364390 | SPTAN1 | c.5636+37G= (n.5636+37G=) c.5600+37G= (n.5600+37G=) c.5063+37G= (n.5063+37G=) c.3223+37G= c.1210+37G= n.828+37G= c.5525+37G= (n.5525+37G=) c.5585+37G= (n.5585+37G=) c.5540+37G= (n.5540+37G=) c.5621+37G= (n.5621+37G=) c.5576+37G= (n.5576+37G=) c.5561+37G= (n.5561+37G=) | |
| 9 | g.128618146G>C | CA590638809 | SPTAN1 | c.5636+38G>C (n.5636+38G>C) c.5600+38G>C (n.5600+38G>C) c.5063+38G>C (n.5063+38G>C) c.3223+38G>C c.1210+38G>C n.828+38G>C c.5525+38G>C (n.5525+38G>C) c.5585+38G>C (n.5585+38G>C) c.5540+38G>C (n.5540+38G>C) c.5621+38G>C (n.5621+38G>C) c.5576+38G>C (n.5576+38G>C) c.5561+38G>C (n.5561+38G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.128618146G= | CA1880364391 | SPTAN1 | c.5636+38G= (n.5636+38G=) c.5600+38G= (n.5600+38G=) c.5063+38G= (n.5063+38G=) c.3223+38G= c.1210+38G= n.828+38G= c.5525+38G= (n.5525+38G=) c.5585+38G= (n.5585+38G=) c.5540+38G= (n.5540+38G=) c.5621+38G= (n.5621+38G=) c.5576+38G= (n.5576+38G=) c.5561+38G= (n.5561+38G=) | |
| 9 | g.128618146G>T | CA653786018 | SPTAN1 | c.5636+38G>T (n.5636+38G>T) c.5600+38G>T (n.5600+38G>T) c.5063+38G>T (n.5063+38G>T) c.3223+38G>T c.1210+38G>T n.828+38G>T c.5525+38G>T (n.5525+38G>T) c.5585+38G>T (n.5585+38G>T) c.5540+38G>T (n.5540+38G>T) c.5621+38G>T (n.5621+38G>T) c.5576+38G>T (n.5576+38G>T) c.5561+38G>T (n.5561+38G>T) | COSMIC |
| 9 | g.128618148A= | CA1880364392 | SPTAN1 | c.5636+40A= (n.5636+40A=) c.5600+40A= (n.5600+40A=) c.5063+40A= (n.5063+40A=) c.3223+40A= c.1210+40A= n.828+40A= c.5525+40A= (n.5525+40A=) c.5585+40A= (n.5585+40A=) c.5540+40A= (n.5540+40A=) c.5621+40A= (n.5621+40A=) c.5576+40A= (n.5576+40A=) c.5561+40A= (n.5561+40A=) | |
| 9 | g.128618148A>G | CA5265512 | SPTAN1 | c.5636+40A>G (n.5636+40A>G) c.5600+40A>G (n.5600+40A>G) c.5063+40A>G (n.5063+40A>G) c.3223+40A>G c.1210+40A>G n.828+40A>G c.5525+40A>G (n.5525+40A>G) c.5585+40A>G (n.5585+40A>G) c.5540+40A>G (n.5540+40A>G) c.5621+40A>G (n.5621+40A>G) c.5576+40A>G (n.5576+40A>G) c.5561+40A>G (n.5561+40A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.128618149G>A | CA2691935638 | SPTAN1 | c.5636+41G>A (n.5636+41G>A) c.5600+41G>A (n.5600+41G>A) c.5063+41G>A (n.5063+41G>A) c.3223+41G>A c.1210+41G>A n.828+41G>A c.5525+41G>A (n.5525+41G>A) c.5585+41G>A (n.5585+41G>A) c.5540+41G>A (n.5540+41G>A) c.5621+41G>A (n.5621+41G>A) c.5576+41G>A (n.5576+41G>A) c.5561+41G>A (n.5561+41G>A) | gnomAD v4 |
| 9 | g.128618150G>T | CA2786023055 | SPTAN1 | c.5636+42G>T (n.5636+42G>T) c.5600+42G>T (n.5600+42G>T) c.5063+42G>T (n.5063+42G>T) c.3223+42G>T c.1210+42G>T n.828+42G>T c.5525+42G>T (n.5525+42G>T) c.5585+42G>T (n.5585+42G>T) c.5540+42G>T (n.5540+42G>T) c.5621+42G>T (n.5621+42G>T) c.5576+42G>T (n.5576+42G>T) c.5561+42G>T (n.5561+42G>T) | |
| 9 | g.128618150_128618151delinsGC | CA1880364393 | SPTAN1 | c.5636+42_5636+43delinsGC (n.5636+42_5636+43delinsGC) c.5600+42_5600+43delinsGC (n.5600+42_5600+43delinsGC) c.5063+42_5063+43delinsGC (n.5063+42_5063+43delinsGC) c.3223+42_3223+43delinsGC c.1210+42_1210+43delinsGC n.828+42_828+43delinsGC c.5525+42_5525+43delinsGC (n.5525+42_5525+43delinsGC) c.5585+42_5585+43delinsGC (n.5585+42_5585+43delinsGC) c.5540+42_5540+43delinsGC (n.5540+42_5540+43delinsGC) c.5621+42_5621+43delinsGC (n.5621+42_5621+43delinsGC) c.5576+42_5576+43delinsGC (n.5576+42_5576+43delinsGC) c.5561+42_5561+43delinsGC (n.5561+42_5561+43delinsGC) | |
| 9 | g.128618152del | CA200401793 | SPTAN1 | c.5636+44del (n.5636+44del) c.5600+44del (n.5600+44del) c.5063+44del (n.5063+44del) c.3223+44del c.1210+44del n.828+44del c.5525+44del (n.5525+44del) c.5585+44del (n.5585+44del) c.5540+44del (n.5540+44del) c.5621+44del (n.5621+44del) c.5576+44del (n.5576+44del) c.5561+44del (n.5561+44del) | dbSNP gnomAD v4 |
| 9 | g.128618152C= | CA1880364394 | SPTAN1 | c.5636+44C= (n.5636+44C=) c.5600+44C= (n.5600+44C=) c.5063+44C= (n.5063+44C=) c.3223+44C= c.1210+44C= n.828+44C= c.5525+44C= (n.5525+44C=) c.5585+44C= (n.5585+44C=) c.5540+44C= (n.5540+44C=) c.5621+44C= (n.5621+44C=) c.5576+44C= (n.5576+44C=) c.5561+44C= (n.5561+44C=) | |
| 9 | g.128618152C>G | CA590638810 | SPTAN1 | c.5636+44C>G (n.5636+44C>G) c.5600+44C>G (n.5600+44C>G) c.5063+44C>G (n.5063+44C>G) c.3223+44C>G c.1210+44C>G n.828+44C>G c.5525+44C>G (n.5525+44C>G) c.5585+44C>G (n.5585+44C>G) c.5540+44C>G (n.5540+44C>G) c.5621+44C>G (n.5621+44C>G) c.5576+44C>G (n.5576+44C>G) c.5561+44C>G (n.5561+44C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.128618152C>T | CA1880364395 | SPTAN1 | c.5636+44C>T (n.5636+44C>T) c.5600+44C>T (n.5600+44C>T) c.5063+44C>T (n.5063+44C>T) c.3223+44C>T c.1210+44C>T n.828+44C>T c.5525+44C>T (n.5525+44C>T) c.5585+44C>T (n.5585+44C>T) c.5540+44C>T (n.5540+44C>T) c.5621+44C>T (n.5621+44C>T) c.5576+44C>T (n.5576+44C>T) c.5561+44C>T (n.5561+44C>T) | dbSNP |