Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.128608862G>C | CA860274691 | SPTAN1 | c.4528-12G>C (n.4528-12G>C) c.4492-12G>C (n.4492-12G>C) c.3955-12G>C (n.3955-12G>C) c.2115-12G>C c.102-12G>C n.5627-12G>C c.4432-12G>C (n.4432-12G>C) n.242-12G>C c.4468-12G>C (n.4468-12G>C) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.128608862G= | CA1880360369 | SPTAN1 | c.4528-12G= (n.4528-12G=) c.4492-12G= (n.4492-12G=) c.3955-12G= (n.3955-12G=) c.2115-12G= c.102-12G= n.5627-12G= c.4432-12G= (n.4432-12G=) n.242-12G= c.4468-12G= (n.4468-12G=) | |
9 | g.128608865T>G | CA590941643 | SPTAN1 | c.4528-9T>G (n.4528-9T>G) c.4492-9T>G (n.4492-9T>G) c.3955-9T>G (n.3955-9T>G) c.2115-9T>G c.102-9T>G n.5627-9T>G c.4432-9T>G (n.4432-9T>G) n.242-9T>G c.4468-9T>G (n.4468-9T>G) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.128608865T= | CA1880360370 | SPTAN1 | c.4528-9T= (n.4528-9T=) c.4492-9T= (n.4492-9T=) c.3955-9T= (n.3955-9T=) c.2115-9T= c.102-9T= n.5627-9T= c.4432-9T= (n.4432-9T=) n.242-9T= c.4468-9T= (n.4468-9T=) | |
9 | g.128608866T>C | CA5265199 | SPTAN1 | c.4528-8T>C (n.4528-8T>C) c.4492-8T>C (n.4492-8T>C) c.3955-8T>C (n.3955-8T>C) c.2115-8T>C c.102-8T>C n.5627-8T>C c.4432-8T>C (n.4432-8T>C) n.242-8T>C c.4468-8T>C (n.4468-8T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.128608866T= | CA1880360371 | SPTAN1 | c.4528-8T= (n.4528-8T=) c.4492-8T= (n.4492-8T=) c.3955-8T= (n.3955-8T=) c.2115-8T= c.102-8T= n.5627-8T= c.4432-8T= (n.4432-8T=) n.242-8T= c.4468-8T= (n.4468-8T=) | |
9 | g.128608867C>G | CA2579470096 | SPTAN1 | c.4528-7C>G (n.4528-7C>G) c.4492-7C>G (n.4492-7C>G) c.3955-7C>G (n.3955-7C>G) c.2115-7C>G c.102-7C>G n.5627-7C>G c.4432-7C>G (n.4432-7C>G) n.242-7C>G c.4468-7C>G (n.4468-7C>G) | |
9 | g.128608868T>C | CA2691934506 | SPTAN1 | c.4528-6T>C (n.4528-6T>C) c.4492-6T>C (n.4492-6T>C) c.3955-6T>C (n.3955-6T>C) c.2115-6T>C c.102-6T>C n.5627-6T>C c.4432-6T>C (n.4432-6T>C) n.242-6T>C c.4468-6T>C (n.4468-6T>C) | gnomAD v4 |
9 | g.128608870A= | CA1880360372 | SPTAN1 | c.4528-4A= (n.4528-4A=) c.4492-4A= (n.4492-4A=) c.3955-4A= (n.3955-4A=) c.2115-4A= c.102-4A= n.5627-4A= c.4432-4A= (n.4432-4A=) n.242-4A= c.4468-4A= (n.4468-4A=) | |
9 | g.128608870A>G | CA5265200 | SPTAN1 | c.4528-4A>G (n.4528-4A>G) c.4492-4A>G (n.4492-4A>G) c.3955-4A>G (n.3955-4A>G) c.2115-4A>G c.102-4A>G n.5627-4A>G c.4432-4A>G (n.4432-4A>G) n.242-4A>G c.4468-4A>G (n.4468-4A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.128608870A>T | CA2691934507 | SPTAN1 | c.4528-4A>T (n.4528-4A>T) c.4492-4A>T (n.4492-4A>T) c.3955-4A>T (n.3955-4A>T) c.2115-4A>T c.102-4A>T n.5627-4A>T c.4432-4A>T (n.4432-4A>T) n.242-4A>T c.4468-4A>T (n.4468-4A>T) | gnomAD v4 |
9 | g.128608871C>T | CA2579470097 | SPTAN1 | c.4528-3C>T (n.4528-3C>T) c.4492-3C>T (n.4492-3C>T) c.3955-3C>T (n.3955-3C>T) c.2115-3C>T c.102-3C>T n.5627-3C>T c.4432-3C>T (n.4432-3C>T) n.242-3C>T c.4468-3C>T (n.4468-3C>T) | gnomAD v4 |
9 | g.128608872A>C | CA375068163 | SPTAN1 | c.4528-2A>C (n.4528-2A>C) c.4492-2A>C (n.4492-2A>C) c.3955-2A>C (n.3955-2A>C) c.2115-2A>C c.102-2A>C n.5627-2A>C c.4432-2A>C (n.4432-2A>C) n.242-2A>C c.4468-2A>C (n.4468-2A>C) | |
9 | g.128608872A>G | CA375068166 | SPTAN1 | c.4528-2A>G (n.4528-2A>G) c.4492-2A>G (n.4492-2A>G) c.3955-2A>G (n.3955-2A>G) c.2115-2A>G c.102-2A>G n.5627-2A>G c.4432-2A>G (n.4432-2A>G) n.242-2A>G c.4468-2A>G (n.4468-2A>G) | |
9 | g.128608872A>T | CA375068169 | SPTAN1 | c.4528-2A>T (n.4528-2A>T) c.4492-2A>T (n.4492-2A>T) c.3955-2A>T (n.3955-2A>T) c.2115-2A>T c.102-2A>T n.5627-2A>T c.4432-2A>T (n.4432-2A>T) n.242-2A>T c.4468-2A>T (n.4468-2A>T) | |
9 | g.128608872dup | CA2691934508 | SPTAN1 | c.4528-2dup (n.4528-2dup) c.4492-2dup (n.4492-2dup) c.3955-2dup (n.3955-2dup) c.2115-2dup c.102-2dup n.5627-2dup c.4432-2dup (n.4432-2dup) n.242-2dup c.4468-2dup (n.4468-2dup) | gnomAD v4 |
9 | g.128608873G>A | CA375068172 | SPTAN1 | c.4528-1G>A (n.4528-1G>A) c.4492-1G>A (n.4492-1G>A) c.3955-1G>A (n.3955-1G>A) c.2115-1G>A c.102-1G>A n.5627-1G>A c.4432-1G>A (n.4432-1G>A) n.242-1G>A c.4468-1G>A (n.4468-1G>A) | |
9 | g.128608873G>C | CA375068173 | SPTAN1 | c.4528-1G>C (n.4528-1G>C) c.4492-1G>C (n.4492-1G>C) c.3955-1G>C (n.3955-1G>C) c.2115-1G>C c.102-1G>C n.5627-1G>C c.4432-1G>C (n.4432-1G>C) n.242-1G>C c.4468-1G>C (n.4468-1G>C) | |
9 | g.128608873G>T | CA375068175 | SPTAN1 | c.4528-1G>T (n.4528-1G>T) c.4492-1G>T (n.4492-1G>T) c.3955-1G>T (n.3955-1G>T) c.2115-1G>T c.102-1G>T n.5627-1G>T c.4432-1G>T (n.4432-1G>T) n.242-1G>T c.4468-1G>T (n.4468-1G>T) | |
9 | g.128608874G>A | CA375068177 | SPTAN1 | c.4528G>A (p.Glu1510Lys) c.4492G>A (p.Glu1498Lys) c.3955G>A (p.Glu1319Lys) c.2115G>A c.102G>A n.5627G>A c.4432G>A (p.Glu1478Lys) n.242G>A c.4468G>A (p.Glu1490Lys) | |
9 | g.128608874G>C | CA375068179 | SPTAN1 | c.4528G>C (p.Glu1510Gln) c.4492G>C (p.Glu1498Gln) c.3955G>C (p.Glu1319Gln) c.2115G>C c.102G>C n.5627G>C c.4432G>C (p.Glu1478Gln) n.242G>C c.4468G>C (p.Glu1490Gln) | |
9 | g.128608874G>T | CA375068180 | SPTAN1 | c.4528G>T (p.Glu1510Ter) c.4492G>T (p.Glu1498Ter) c.3955G>T (p.Glu1319Ter) c.2115G>T c.102G>T n.5627G>T c.4432G>T (p.Glu1478Ter) n.242G>T c.4468G>T (p.Glu1490Ter) | |
9 | g.128608875A>C | CA375068181 | SPTAN1 | c.4529A>C (p.Glu1510Ala) c.4493A>C (p.Glu1498Ala) c.3956A>C (p.Glu1319Ala) c.2116A>C c.103A>C n.5628A>C c.4433A>C (p.Glu1478Ala) n.243A>C c.4469A>C (p.Glu1490Ala) | |
9 | g.128608875A>G | CA375068182 | SPTAN1 | c.4529A>G (p.Glu1510Gly) c.4493A>G (p.Glu1498Gly) c.3956A>G (p.Glu1319Gly) c.2116A>G c.103A>G n.5628A>G c.4433A>G (p.Glu1478Gly) n.243A>G c.4469A>G (p.Glu1490Gly) | gnomAD v4 |
9 | g.128608875A>T | CA375068183 | SPTAN1 | c.4529A>T (p.Glu1510Val) c.4493A>T (p.Glu1498Val) c.3956A>T (p.Glu1319Val) c.2116A>T c.103A>T n.5628A>T c.4433A>T (p.Glu1478Val) n.243A>T c.4469A>T (p.Glu1490Val) | |
9 | g.128608876A>C | CA375068185 | SPTAN1 | c.4530A>C (p.Glu1510Asp) c.4494A>C (p.Glu1498Asp) c.3957A>C (p.Glu1319Asp) c.2117A>C c.104A>C n.5629A>C c.4434A>C (p.Glu1478Asp) n.244A>C c.4470A>C (p.Glu1490Asp) | |
9 | g.128608876A>G | CA467484876 | SPTAN1 | c.4530A>G (p.Glu1510=) c.4494A>G (p.Glu1498=) c.3957A>G (p.Glu1319=) c.2117A>G c.104A>G n.5629A>G c.4434A>G (p.Glu1478=) n.244A>G c.4470A>G (p.Glu1490=) | |
9 | g.128608876A>T | CA375068184 | SPTAN1 | c.4530A>T (p.Glu1510Asp) c.4494A>T (p.Glu1498Asp) c.3957A>T (p.Glu1319Asp) c.2117A>T c.104A>T n.5629A>T c.4434A>T (p.Glu1478Asp) n.244A>T c.4470A>T (p.Glu1490Asp) | |
9 | g.128608877G>A | CA375068187 | SPTAN1 | c.4531G>A (p.Glu1511Lys) c.4495G>A (p.Glu1499Lys) c.3958G>A (p.Glu1320Lys) c.2118G>A c.105G>A n.5630G>A c.4435G>A (p.Glu1479Lys) n.245G>A c.4471G>A (p.Glu1491Lys) | |
9 | g.128608877G>C | CA375068190 | SPTAN1 | c.4531G>C (p.Glu1511Gln) c.4495G>C (p.Glu1499Gln) c.3958G>C (p.Glu1320Gln) c.2118G>C c.105G>C n.5630G>C c.4435G>C (p.Glu1479Gln) n.245G>C c.4471G>C (p.Glu1491Gln) | |
9 | g.128608877G>T | CA375068188 | SPTAN1 | c.4531G>T (p.Glu1511Ter) c.4495G>T (p.Glu1499Ter) c.3958G>T (p.Glu1320Ter) c.2118G>T c.105G>T n.5630G>T c.4435G>T (p.Glu1479Ter) n.245G>T c.4471G>T (p.Glu1491Ter) | |
9 | g.128608878A>C | CA375068192 | SPTAN1 | c.4532A>C (p.Glu1511Ala) c.4496A>C (p.Glu1499Ala) c.3959A>C (p.Glu1320Ala) c.2119A>C c.106A>C n.5631A>C c.4436A>C (p.Glu1479Ala) n.246A>C c.4472A>C (p.Glu1491Ala) | |
9 | g.128608878A>G | CA375068193 | SPTAN1 | c.4532A>G (p.Glu1511Gly) c.4496A>G (p.Glu1499Gly) c.3959A>G (p.Glu1320Gly) c.2119A>G c.106A>G n.5631A>G c.4436A>G (p.Glu1479Gly) n.246A>G c.4472A>G (p.Glu1491Gly) | |
9 | g.128608878A>T | CA375068194 | SPTAN1 | c.4532A>T (p.Glu1511Val) c.4496A>T (p.Glu1499Val) c.3959A>T (p.Glu1320Val) c.2119A>T c.106A>T n.5631A>T c.4436A>T (p.Glu1479Val) n.246A>T c.4472A>T (p.Glu1491Val) | |
9 | g.128608879G>A | CA5265201 | SPTAN1 | c.4533G>A (p.Glu1511=) c.4497G>A (p.Glu1499=) c.3960G>A (p.Glu1320=) c.2120G>A c.107G>A n.5632G>A c.4437G>A (p.Glu1479=) n.247G>A c.4473G>A (p.Glu1491=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.128608879G>C | CA375068197 | SPTAN1 | c.4533G>C (p.Glu1511Asp) c.4497G>C (p.Glu1499Asp) c.3960G>C (p.Glu1320Asp) c.2120G>C c.107G>C n.5632G>C c.4437G>C (p.Glu1479Asp) n.247G>C c.4473G>C (p.Glu1491Asp) | |
9 | g.128608879G= | CA1880360373 | SPTAN1 | c.4533G= (p.Glu1511=) c.4497G= (p.Glu1499=) c.3960G= (p.Glu1320=) c.2120G= c.107G= n.5632G= c.4437G= (p.Glu1479=) n.247G= c.4473G= (p.Glu1491=) | |
9 | g.128608879G>T | CA375068199 | SPTAN1 | c.4533G>T (p.Glu1511Asp) c.4497G>T (p.Glu1499Asp) c.3960G>T (p.Glu1320Asp) c.2120G>T c.107G>T n.5632G>T c.4437G>T (p.Glu1479Asp) n.247G>T c.4473G>T (p.Glu1491Asp) | |
9 | g.128608880A>C | CA375068200 | SPTAN1 | c.4534A>C (p.Lys1512Gln) c.4498A>C (p.Lys1500Gln) c.3961A>C (p.Lys1321Gln) c.2121A>C c.108A>C n.5633A>C c.4438A>C (p.Lys1480Gln) n.248A>C c.4474A>C (p.Lys1492Gln) | |
9 | g.128608880A>G | CA375068201 | SPTAN1 | c.4534A>G (p.Lys1512Glu) c.4498A>G (p.Lys1500Glu) c.3961A>G (p.Lys1321Glu) c.2121A>G c.108A>G n.5633A>G c.4438A>G (p.Lys1480Glu) n.248A>G c.4474A>G (p.Lys1492Glu) | |
9 | g.128608880A>T | CA375068203 | SPTAN1 | c.4534A>T (p.Lys1512Ter) c.4498A>T (p.Lys1500Ter) c.3961A>T (p.Lys1321Ter) c.2121A>T c.108A>T n.5633A>T c.4438A>T (p.Lys1480Ter) n.248A>T c.4474A>T (p.Lys1492Ter) | |
9 | g.128608881A>C | CA375068204 | SPTAN1 | c.4535A>C (p.Lys1512Thr) c.4499A>C (p.Lys1500Thr) c.3962A>C (p.Lys1321Thr) c.2122A>C c.109A>C n.5634A>C c.4439A>C (p.Lys1480Thr) n.249A>C c.4475A>C (p.Lys1492Thr) | |
9 | g.128608881A>G | CA375068206 | SPTAN1 | c.4535A>G (p.Lys1512Arg) c.4499A>G (p.Lys1500Arg) c.3962A>G (p.Lys1321Arg) c.2122A>G c.109A>G n.5634A>G c.4439A>G (p.Lys1480Arg) n.249A>G c.4475A>G (p.Lys1492Arg) | |
9 | g.128608881A>T | CA375068207 | SPTAN1 | c.4535A>T (p.Lys1512Met) c.4499A>T (p.Lys1500Met) c.3962A>T (p.Lys1321Met) c.2122A>T c.109A>T n.5634A>T c.4439A>T (p.Lys1480Met) n.249A>T c.4475A>T (p.Lys1492Met) | |
9 | g.128608882G>A | CA467484880 | SPTAN1 | c.4536G>A (p.Lys1512=) c.4500G>A (p.Lys1500=) c.3963G>A (p.Lys1321=) c.2123G>A c.110G>A n.5635G>A c.4440G>A (p.Lys1480=) n.250G>A c.4476G>A (p.Lys1492=) | |
9 | g.128608882G>C | CA375068209 | SPTAN1 | c.4536G>C (p.Lys1512Asn) c.4500G>C (p.Lys1500Asn) c.3963G>C (p.Lys1321Asn) c.2123G>C c.110G>C n.5635G>C c.4440G>C (p.Lys1480Asn) n.250G>C c.4476G>C (p.Lys1492Asn) | |
9 | g.128608882G>T | CA375068211 | SPTAN1 | c.4536G>T (p.Lys1512Asn) c.4500G>T (p.Lys1500Asn) c.3963G>T (p.Lys1321Asn) c.2123G>T c.110G>T n.5635G>T c.4440G>T (p.Lys1480Asn) n.250G>T c.4476G>T (p.Lys1492Asn) | |
9 | g.128608883A>C | CA375068212 | SPTAN1 | c.4537A>C (p.Ile1513Leu) c.4501A>C (p.Ile1501Leu) c.3964A>C (p.Ile1322Leu) c.2124A>C c.111A>C n.5636A>C c.4441A>C (p.Ile1481Leu) n.251A>C c.4477A>C (p.Ile1493Leu) | |
9 | g.128608883A>G | CA375068214 | SPTAN1 | c.4537A>G (p.Ile1513Val) c.4501A>G (p.Ile1501Val) c.3964A>G (p.Ile1322Val) c.2124A>G c.111A>G n.5636A>G c.4441A>G (p.Ile1481Val) n.251A>G c.4477A>G (p.Ile1493Val) | |
9 | g.128608883A>T | CA375068215 | SPTAN1 | c.4537A>T (p.Ile1513Phe) c.4501A>T (p.Ile1501Phe) c.3964A>T (p.Ile1322Phe) c.2124A>T c.111A>T n.5636A>T c.4441A>T (p.Ile1481Phe) n.251A>T c.4477A>T (p.Ile1493Phe) | |
9 | g.128608884T>A | CA375068217 | SPTAN1 | c.4538T>A (p.Ile1513Asn) c.4502T>A (p.Ile1501Asn) c.3965T>A (p.Ile1322Asn) c.2125T>A c.112T>A n.5637T>A c.4442T>A (p.Ile1481Asn) n.252T>A c.4478T>A (p.Ile1493Asn) | |
9 | g.128608884T>C | CA375068218 | SPTAN1 | c.4538T>C (p.Ile1513Thr) c.4502T>C (p.Ile1501Thr) c.3965T>C (p.Ile1322Thr) c.2125T>C c.112T>C n.5637T>C c.4442T>C (p.Ile1481Thr) n.252T>C c.4478T>C (p.Ile1493Thr) | |
9 | g.128608884T>G | CA375068220 | SPTAN1 | c.4538T>G (p.Ile1513Ser) c.4502T>G (p.Ile1501Ser) c.3965T>G (p.Ile1322Ser) c.2125T>G c.112T>G n.5637T>G c.4442T>G (p.Ile1481Ser) n.252T>G c.4478T>G (p.Ile1493Ser) | |
9 | g.128608885T>A | CA467484884 | SPTAN1 | c.4539T>A (p.Ile1513=) c.4503T>A (p.Ile1501=) c.3966T>A (p.Ile1322=) c.2126T>A c.113T>A n.5638T>A c.4443T>A (p.Ile1481=) n.253T>A c.4479T>A (p.Ile1493=) | dbSNP |
9 | g.128608885T>C | CA467484885 | SPTAN1 | c.4539T>C (p.Ile1513=) c.4503T>C (p.Ile1501=) c.3966T>C (p.Ile1322=) c.2126T>C c.113T>C n.5638T>C c.4443T>C (p.Ile1481=) n.253T>C c.4479T>C (p.Ile1493=) | |
9 | g.128608885T>G | CA375068221 | SPTAN1 | c.4539T>G (p.Ile1513Met) c.4503T>G (p.Ile1501Met) c.3966T>G (p.Ile1322Met) c.2126T>G c.113T>G n.5638T>G c.4443T>G (p.Ile1481Met) n.253T>G c.4479T>G (p.Ile1493Met) | |
9 | g.128608885T= | CA1880360374 | SPTAN1 | c.4539T= (p.Ile1513=) c.4503T= (p.Ile1501=) c.3966T= (p.Ile1322=) c.2126T= c.113T= n.5638T= c.4443T= (p.Ile1481=) n.253T= c.4479T= (p.Ile1493=) | |
9 | g.128608886G>A | CA375068223 | SPTAN1 | c.4540G>A (p.Ala1514Thr) c.4504G>A (p.Ala1502Thr) c.3967G>A (p.Ala1323Thr) c.2127G>A c.114G>A n.5639G>A c.4444G>A (p.Ala1482Thr) n.254G>A c.4480G>A (p.Ala1494Thr) | |
9 | g.128608886G>C | CA375068224 | SPTAN1 | c.4540G>C (p.Ala1514Pro) c.4504G>C (p.Ala1502Pro) c.3967G>C (p.Ala1323Pro) c.2127G>C c.114G>C n.5639G>C c.4444G>C (p.Ala1482Pro) n.254G>C c.4480G>C (p.Ala1494Pro) | |
9 | g.128608886G>T | CA375068226 | SPTAN1 | c.4540G>T (p.Ala1514Ser) c.4504G>T (p.Ala1502Ser) c.3967G>T (p.Ala1323Ser) c.2127G>T c.114G>T n.5639G>T c.4444G>T (p.Ala1482Ser) n.254G>T c.4480G>T (p.Ala1494Ser) | |
9 | g.128608887C>A | CA375068229 | SPTAN1 | c.4541C>A (p.Ala1514Asp) c.4505C>A (p.Ala1502Asp) c.3968C>A (p.Ala1323Asp) c.2128C>A c.115C>A n.5640C>A c.4445C>A (p.Ala1482Asp) n.255C>A c.4481C>A (p.Ala1494Asp) | |
9 | g.128608887C>G | CA375068230 | SPTAN1 | c.4541C>G (p.Ala1514Gly) c.4505C>G (p.Ala1502Gly) c.3968C>G (p.Ala1323Gly) c.2128C>G c.115C>G n.5640C>G c.4445C>G (p.Ala1482Gly) n.255C>G c.4481C>G (p.Ala1494Gly) | |
9 | g.128608887C>T | CA375068227 | SPTAN1 | c.4541C>T (p.Ala1514Val) c.4505C>T (p.Ala1502Val) c.3968C>T (p.Ala1323Val) c.2128C>T c.115C>T n.5640C>T c.4445C>T (p.Ala1482Val) n.255C>T c.4481C>T (p.Ala1494Val) | |
9 | g.128608888T>A | CA467484888 | SPTAN1 | c.4542T>A (p.Ala1514=) c.4506T>A (p.Ala1502=) c.3969T>A (p.Ala1323=) c.2129T>A c.116T>A n.5641T>A c.4446T>A (p.Ala1482=) n.256T>A c.4482T>A (p.Ala1494=) | |
9 | g.128608888T>C | CA467484889 | SPTAN1 | c.4542T>C (p.Ala1514=) c.4506T>C (p.Ala1502=) c.3969T>C (p.Ala1323=) c.2129T>C c.116T>C n.5641T>C c.4446T>C (p.Ala1482=) n.256T>C c.4482T>C (p.Ala1494=) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.128608888T>G | CA467484891 | SPTAN1 | c.4542T>G (p.Ala1514=) c.4506T>G (p.Ala1502=) c.3969T>G (p.Ala1323=) c.2129T>G c.116T>G n.5641T>G c.4446T>G (p.Ala1482=) n.256T>G c.4482T>G (p.Ala1494=) | gnomAD v4 |
9 | g.128608888T= | CA1880360375 | SPTAN1 | c.4542T= (p.Ala1514=) c.4506T= (p.Ala1502=) c.3969T= (p.Ala1323=) c.2129T= c.116T= n.5641T= c.4446T= (p.Ala1482=) n.256T= c.4482T= (p.Ala1494=) | |
9 | g.128608889G>A | CA375068231 | SPTAN1 | c.4543G>A (p.Ala1515Thr) c.4507G>A (p.Ala1503Thr) c.3970G>A (p.Ala1324Thr) c.2130G>A c.117G>A n.5642G>A c.4447G>A (p.Ala1483Thr) n.257G>A c.4483G>A (p.Ala1495Thr) | |
9 | g.128608889G>C | CA375068232 | SPTAN1 | c.4543G>C (p.Ala1515Pro) c.4507G>C (p.Ala1503Pro) c.3970G>C (p.Ala1324Pro) c.2130G>C c.117G>C n.5642G>C c.4447G>C (p.Ala1483Pro) n.257G>C c.4483G>C (p.Ala1495Pro) | |
9 | g.128608889G>T | CA375068233 | SPTAN1 | c.4543G>T (p.Ala1515Ser) c.4507G>T (p.Ala1503Ser) c.3970G>T (p.Ala1324Ser) c.2130G>T c.117G>T n.5642G>T c.4447G>T (p.Ala1483Ser) n.257G>T c.4483G>T (p.Ala1495Ser) | |
9 | g.128608890C>A | CA375068234 | SPTAN1 | c.4544C>A (p.Ala1515Asp) c.4508C>A (p.Ala1503Asp) c.3971C>A (p.Ala1324Asp) c.2131C>A c.118C>A n.5643C>A c.4448C>A (p.Ala1483Asp) n.258C>A c.4484C>A (p.Ala1495Asp) | |
9 | g.128608890C>G | CA375068235 | SPTAN1 | c.4544C>G (p.Ala1515Gly) c.4508C>G (p.Ala1503Gly) c.3971C>G (p.Ala1324Gly) c.2131C>G c.118C>G n.5643C>G c.4448C>G (p.Ala1483Gly) n.258C>G c.4484C>G (p.Ala1495Gly) | |
9 | g.128608890C>T | CA375068237 | SPTAN1 | c.4544C>T (p.Ala1515Val) c.4508C>T (p.Ala1503Val) c.3971C>T (p.Ala1324Val) c.2131C>T c.118C>T n.5643C>T c.4448C>T (p.Ala1483Val) n.258C>T c.4484C>T (p.Ala1495Val) | |
9 | g.128608891T>A | CA467484894 | SPTAN1 | c.4545T>A (p.Ala1515=) c.4509T>A (p.Ala1503=) c.3972T>A (p.Ala1324=) c.2132T>A c.119T>A n.5644T>A c.4449T>A (p.Ala1483=) n.259T>A c.4485T>A (p.Ala1495=) | |
9 | g.128608891T>C | CA467484896 | SPTAN1 | c.4545T>C (p.Ala1515=) c.4509T>C (p.Ala1503=) c.3972T>C (p.Ala1324=) c.2132T>C c.119T>C n.5644T>C c.4449T>C (p.Ala1483=) n.259T>C c.4485T>C (p.Ala1495=) | |
9 | g.128608891T>G | CA467484898 | SPTAN1 | c.4545T>G (p.Ala1515=) c.4509T>G (p.Ala1503=) c.3972T>G (p.Ala1324=) c.2132T>G c.119T>G n.5644T>G c.4449T>G (p.Ala1483=) n.259T>G c.4485T>G (p.Ala1495=) | |
9 | g.128608892C>A | CA375068240 | SPTAN1 | c.4546C>A (p.Leu1516Met) c.4510C>A (p.Leu1504Met) c.3973C>A (p.Leu1325Met) c.2133C>A c.120C>A n.5645C>A c.4450C>A (p.Leu1484Met) n.260C>A c.4486C>A (p.Leu1496Met) | |
9 | g.128608892C>G | CA375068238 | SPTAN1 | c.4546C>G (p.Leu1516Val) c.4510C>G (p.Leu1504Val) c.3973C>G (p.Leu1325Val) c.2133C>G c.120C>G n.5645C>G c.4450C>G (p.Leu1484Val) n.260C>G c.4486C>G (p.Leu1496Val) | |
9 | g.128608892C>T | CA467484899 | SPTAN1 | c.4546C>T (p.Leu1516=) c.4510C>T (p.Leu1504=) c.3973C>T (p.Leu1325=) c.2133C>T c.120C>T n.5645C>T c.4450C>T (p.Leu1484=) n.260C>T c.4486C>T (p.Leu1496=) | |
9 | g.128608893T>A | CA375068242 | SPTAN1 | c.4547T>A (p.Leu1516Gln) c.4511T>A (p.Leu1504Gln) c.3974T>A (p.Leu1325Gln) c.2134T>A c.121T>A n.5646T>A c.4451T>A (p.Leu1484Gln) n.261T>A c.4487T>A (p.Leu1496Gln) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.128608893T>C | CA375068243 | SPTAN1 | c.4547T>C (p.Leu1516Pro) c.4511T>C (p.Leu1504Pro) c.3974T>C (p.Leu1325Pro) c.2134T>C c.121T>C n.5646T>C c.4451T>C (p.Leu1484Pro) n.261T>C c.4487T>C (p.Leu1496Pro) | |
9 | g.128608893T>G | CA375068245 | SPTAN1 | c.4547T>G (p.Leu1516Arg) c.4511T>G (p.Leu1504Arg) c.3974T>G (p.Leu1325Arg) c.2134T>G c.121T>G n.5646T>G c.4451T>G (p.Leu1484Arg) n.261T>G c.4487T>G (p.Leu1496Arg) | |
9 | g.128608893T= | CA1880360376 | SPTAN1 | c.4547T= (p.Leu1516=) c.4511T= (p.Leu1504=) c.3974T= (p.Leu1325=) c.2134T= c.121T= n.5646T= c.4451T= (p.Leu1484=) n.261T= c.4487T= (p.Leu1496=) | |
9 | g.128608894G>A | CA467484900 | SPTAN1 | c.4548G>A (p.Leu1516=) c.4512G>A (p.Leu1504=) c.3975G>A (p.Leu1325=) c.2135G>A c.122G>A n.5647G>A c.4452G>A (p.Leu1484=) n.262G>A c.4488G>A (p.Leu1496=) | gnomAD v4 |
9 | g.128608894G>C | CA467484902 | SPTAN1 | c.4548G>C (p.Leu1516=) c.4512G>C (p.Leu1504=) c.3975G>C (p.Leu1325=) c.2135G>C c.122G>C n.5647G>C c.4452G>C (p.Leu1484=) n.262G>C c.4488G>C (p.Leu1496=) | |
9 | g.128608894G>T | CA467484901 | SPTAN1 | c.4548G>T (p.Leu1516=) c.4512G>T (p.Leu1504=) c.3975G>T (p.Leu1325=) c.2135G>T c.122G>T n.5647G>T c.4452G>T (p.Leu1484=) n.262G>T c.4488G>T (p.Leu1496=) | gnomAD v4 |
9 | g.128608895C>A | CA375068247 | SPTAN1 | c.4549C>A (p.Gln1517Lys) c.4513C>A (p.Gln1505Lys) c.3976C>A (p.Gln1326Lys) c.2136C>A c.123C>A n.5648C>A c.4453C>A (p.Gln1485Lys) n.263C>A c.4489C>A (p.Gln1497Lys) | |
9 | g.128608895C>G | CA375068249 | SPTAN1 | c.4549C>G (p.Gln1517Glu) c.4513C>G (p.Gln1505Glu) c.3976C>G (p.Gln1326Glu) c.2136C>G c.123C>G n.5648C>G c.4453C>G (p.Gln1485Glu) n.263C>G c.4489C>G (p.Gln1497Glu) | |
9 | g.128608895C>T | CA375068250 | SPTAN1 | c.4549C>T (p.Gln1517Ter) c.4513C>T (p.Gln1505Ter) c.3976C>T (p.Gln1326Ter) c.2136C>T c.123C>T n.5648C>T c.4453C>T (p.Gln1485Ter) n.263C>T c.4489C>T (p.Gln1497Ter) | |
9 | g.128608896A>C | CA375068252 | SPTAN1 | c.4550A>C (p.Gln1517Pro) c.4514A>C (p.Gln1505Pro) c.3977A>C (p.Gln1326Pro) c.2137A>C c.124A>C n.5649A>C c.4454A>C (p.Gln1485Pro) n.264A>C c.4490A>C (p.Gln1497Pro) | |
9 | g.128608896A>G | CA375068255 | SPTAN1 | c.4550A>G (p.Gln1517Arg) c.4514A>G (p.Gln1505Arg) c.3977A>G (p.Gln1326Arg) c.2137A>G c.124A>G n.5649A>G c.4454A>G (p.Gln1485Arg) n.264A>G c.4490A>G (p.Gln1497Arg) | |
9 | g.128608896A>T | CA375068253 | SPTAN1 | c.4550A>T (p.Gln1517Leu) c.4514A>T (p.Gln1505Leu) c.3977A>T (p.Gln1326Leu) c.2137A>T c.124A>T n.5649A>T c.4454A>T (p.Gln1485Leu) n.264A>T c.4490A>T (p.Gln1497Leu) | ClinVar dbSNP |
9 | g.128608897G>A | CA467484903 | SPTAN1 | c.4551G>A (p.Gln1517=) c.4515G>A (p.Gln1505=) c.3978G>A (p.Gln1326=) c.2138G>A c.125G>A n.5650G>A c.4455G>A (p.Gln1485=) n.265G>A c.4491G>A (p.Gln1497=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.128608897G>C | CA375068256 | SPTAN1 | c.4551G>C (p.Gln1517His) c.4515G>C (p.Gln1505His) c.3978G>C (p.Gln1326His) c.2138G>C c.125G>C n.5650G>C c.4455G>C (p.Gln1485His) n.265G>C c.4491G>C (p.Gln1497His) | |
9 | g.128608897G= | CA1880360377 | SPTAN1 | c.4551G= (p.Gln1517=) c.4515G= (p.Gln1505=) c.3978G= (p.Gln1326=) c.2138G= c.125G= n.5650G= c.4455G= (p.Gln1485=) n.265G= c.4491G= (p.Gln1497=) | |
9 | g.128608897G>T | CA375068258 | SPTAN1 | c.4551G>T (p.Gln1517His) c.4515G>T (p.Gln1505His) c.3978G>T (p.Gln1326His) c.2138G>T c.125G>T n.5650G>T c.4455G>T (p.Gln1485His) n.265G>T c.4491G>T (p.Gln1497His) | COSMIC |
9 | g.128608898G>A | CA375068259 | SPTAN1 | c.4552G>A (p.Ala1518Thr) c.4516G>A (p.Ala1506Thr) c.3979G>A (p.Ala1327Thr) c.2139G>A c.126G>A n.5651G>A c.4456G>A (p.Ala1486Thr) n.266G>A c.4492G>A (p.Ala1498Thr) | |
9 | g.128608898G>C | CA375068260 | SPTAN1 | c.4552G>C (p.Ala1518Pro) c.4516G>C (p.Ala1506Pro) c.3979G>C (p.Ala1327Pro) c.2139G>C c.126G>C n.5651G>C c.4456G>C (p.Ala1486Pro) n.266G>C c.4492G>C (p.Ala1498Pro) | |
9 | g.128608898G>T | CA375068262 | SPTAN1 | c.4552G>T (p.Ala1518Ser) c.4516G>T (p.Ala1506Ser) c.3979G>T (p.Ala1327Ser) c.2139G>T c.126G>T n.5651G>T c.4456G>T (p.Ala1486Ser) n.266G>T c.4492G>T (p.Ala1498Ser) | |
9 | g.128608899C>A | CA375068263 | SPTAN1 | c.4553C>A (p.Ala1518Asp) c.4517C>A (p.Ala1506Asp) c.3980C>A (p.Ala1327Asp) c.2140C>A c.127C>A n.5652C>A c.4457C>A (p.Ala1486Asp) n.267C>A c.4493C>A (p.Ala1498Asp) | |
9 | g.128608899C= | CA1880360378 | SPTAN1 | c.4553C= (p.Ala1518=) c.4517C= (p.Ala1506=) c.3980C= (p.Ala1327=) c.2140C= c.127C= n.5652C= c.4457C= (p.Ala1486=) n.267C= c.4493C= (p.Ala1498=) | |
9 | g.128608899C>G | CA375068264 | SPTAN1 | c.4553C>G (p.Ala1518Gly) c.4517C>G (p.Ala1506Gly) c.3980C>G (p.Ala1327Gly) c.2140C>G c.127C>G n.5652C>G c.4457C>G (p.Ala1486Gly) n.267C>G c.4493C>G (p.Ala1498Gly) | |
9 | g.128608899C>T | CA375068266 | SPTAN1 | c.4553C>T (p.Ala1518Val) c.4517C>T (p.Ala1506Val) c.3980C>T (p.Ala1327Val) c.2140C>T c.127C>T n.5652C>T c.4457C>T (p.Ala1486Val) n.267C>T c.4493C>T (p.Ala1498Val) | dbSNP |
9 | g.128608900C>A | CA467484904 | SPTAN1 | c.4554C>A (p.Ala1518=) c.4518C>A (p.Ala1506=) c.3981C>A (p.Ala1327=) c.2141C>A c.128C>A n.5653C>A c.4458C>A (p.Ala1486=) n.268C>A c.4494C>A (p.Ala1498=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.128608900C= | CA1880360379 | SPTAN1 | c.4554C= (p.Ala1518=) c.4518C= (p.Ala1506=) c.3981C= (p.Ala1327=) c.2141C= c.128C= n.5653C= c.4458C= (p.Ala1486=) n.268C= c.4494C= (p.Ala1498=) | |
9 | g.128608900C>G | CA467484905 | SPTAN1 | c.4554C>G (p.Ala1518=) c.4518C>G (p.Ala1506=) c.3981C>G (p.Ala1327=) c.2141C>G c.128C>G n.5653C>G c.4458C>G (p.Ala1486=) n.268C>G c.4494C>G (p.Ala1498=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.128608900C>T | CA5265202 | SPTAN1 | c.4554C>T (p.Ala1518=) c.4518C>T (p.Ala1506=) c.3981C>T (p.Ala1327=) c.2141C>T c.128C>T n.5653C>T c.4458C>T (p.Ala1486=) n.268C>T c.4494C>T (p.Ala1498=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.128608901T>A | CA375068267 | SPTAN1 | c.4555T>A (p.Phe1519Ile) c.4519T>A (p.Phe1507Ile) c.3982T>A (p.Phe1328Ile) c.2142T>A c.129T>A n.5654T>A c.4459T>A (p.Phe1487Ile) n.269T>A c.4495T>A (p.Phe1499Ile) | |
9 | g.128608901T>C | CA375068268 | SPTAN1 | c.4555T>C (p.Phe1519Leu) c.4519T>C (p.Phe1507Leu) c.3982T>C (p.Phe1328Leu) c.2142T>C c.129T>C n.5654T>C c.4459T>C (p.Phe1487Leu) n.269T>C c.4495T>C (p.Phe1499Leu) | |
9 | g.128608901T>G | CA375068269 | SPTAN1 | c.4555T>G (p.Phe1519Val) c.4519T>G (p.Phe1507Val) c.3982T>G (p.Phe1328Val) c.2142T>G c.129T>G n.5654T>G c.4459T>G (p.Phe1487Val) n.269T>G c.4495T>G (p.Phe1499Val) | |
9 | g.128608902T>A | CA375068272 | SPTAN1 | c.4556T>A (p.Phe1519Tyr) c.4520T>A (p.Phe1507Tyr) c.3983T>A (p.Phe1328Tyr) c.2143T>A c.130T>A n.5655T>A c.4460T>A (p.Phe1487Tyr) n.270T>A c.4496T>A (p.Phe1499Tyr) | |
9 | g.128608902T>C | CA375068274 | SPTAN1 | c.4556T>C (p.Phe1519Ser) c.4520T>C (p.Phe1507Ser) c.3983T>C (p.Phe1328Ser) c.2143T>C c.130T>C n.5655T>C c.4460T>C (p.Phe1487Ser) n.270T>C c.4496T>C (p.Phe1499Ser) | |
9 | g.128608902T>G | CA375068270 | SPTAN1 | c.4556T>G (p.Phe1519Cys) c.4520T>G (p.Phe1507Cys) c.3983T>G (p.Phe1328Cys) c.2143T>G c.130T>G n.5655T>G c.4460T>G (p.Phe1487Cys) n.270T>G c.4496T>G (p.Phe1499Cys) | |
9 | g.128608903T>A | CA375068276 | SPTAN1 | c.4557T>A (p.Phe1519Leu) c.4521T>A (p.Phe1507Leu) c.3984T>A (p.Phe1328Leu) c.2144T>A c.131T>A n.5656T>A c.4461T>A (p.Phe1487Leu) n.271T>A c.4497T>A (p.Phe1499Leu) | |
9 | g.128608903T>C | CA467484906 | SPTAN1 | c.4557T>C (p.Phe1519=) c.4521T>C (p.Phe1507=) c.3984T>C (p.Phe1328=) c.2144T>C c.131T>C n.5656T>C c.4461T>C (p.Phe1487=) n.271T>C c.4497T>C (p.Phe1499=) | |
9 | g.128608903T>G | CA375068275 | SPTAN1 | c.4557T>G (p.Phe1519Leu) c.4521T>G (p.Phe1507Leu) c.3984T>G (p.Phe1328Leu) c.2144T>G c.131T>G n.5656T>G c.4461T>G (p.Phe1487Leu) n.271T>G c.4497T>G (p.Phe1499Leu) | |
9 | g.128608904G>A | CA375068281 | SPTAN1 | c.4558G>A (p.Ala1520Thr) c.4522G>A (p.Ala1508Thr) c.3985G>A (p.Ala1329Thr) c.2145G>A c.132G>A n.5657G>A c.4462G>A (p.Ala1488Thr) n.272G>A c.4498G>A (p.Ala1500Thr) | |
9 | g.128608904G>C | CA375068278 | SPTAN1 | c.4558G>C (p.Ala1520Pro) c.4522G>C (p.Ala1508Pro) c.3985G>C (p.Ala1329Pro) c.2145G>C c.132G>C n.5657G>C c.4462G>C (p.Ala1488Pro) n.272G>C c.4498G>C (p.Ala1500Pro) | |
9 | g.128608904G>T | CA375068279 | SPTAN1 | c.4558G>T (p.Ala1520Ser) c.4522G>T (p.Ala1508Ser) c.3985G>T (p.Ala1329Ser) c.2145G>T c.132G>T n.5657G>T c.4462G>T (p.Ala1488Ser) n.272G>T c.4498G>T (p.Ala1500Ser) | |
9 | g.128608905C>A | CA375068282 | SPTAN1 | c.4559C>A (p.Ala1520Asp) c.4523C>A (p.Ala1508Asp) c.3986C>A (p.Ala1329Asp) c.2146C>A c.133C>A n.5658C>A c.4463C>A (p.Ala1488Asp) n.273C>A c.4499C>A (p.Ala1500Asp) | |
9 | g.128608905C>G | CA375068284 | SPTAN1 | c.4559C>G (p.Ala1520Gly) c.4523C>G (p.Ala1508Gly) c.3986C>G (p.Ala1329Gly) c.2146C>G c.133C>G n.5658C>G c.4463C>G (p.Ala1488Gly) n.273C>G c.4499C>G (p.Ala1500Gly) | |
9 | g.128608905C>T | CA375068285 | SPTAN1 | c.4559C>T (p.Ala1520Val) c.4523C>T (p.Ala1508Val) c.3986C>T (p.Ala1329Val) c.2146C>T c.133C>T n.5658C>T c.4463C>T (p.Ala1488Val) n.273C>T c.4499C>T (p.Ala1500Val) | |
9 | g.128608906C>A | CA467484907 | SPTAN1 | c.4560C>A (p.Ala1520=) c.4524C>A (p.Ala1508=) c.3987C>A (p.Ala1329=) c.2147C>A c.134C>A n.5659C>A c.4464C>A (p.Ala1488=) n.274C>A c.4500C>A (p.Ala1500=) | |
9 | g.128608906C= | CA1880360380 | SPTAN1 | c.4560C= (p.Ala1520=) c.4524C= (p.Ala1508=) c.3987C= (p.Ala1329=) c.2147C= c.134C= n.5659C= c.4464C= (p.Ala1488=) n.274C= c.4500C= (p.Ala1500=) | |
9 | g.128608906C>G | CA467484908 | SPTAN1 | c.4560C>G (p.Ala1520=) c.4524C>G (p.Ala1508=) c.3987C>G (p.Ala1329=) c.2147C>G c.134C>G n.5659C>G c.4464C>G (p.Ala1488=) n.274C>G c.4500C>G (p.Ala1500=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.128608906C>T | CA5265203 | SPTAN1 | c.4560C>T (p.Ala1520=) c.4524C>T (p.Ala1508=) c.3987C>T (p.Ala1329=) c.2147C>T c.134C>T n.5659C>T c.4464C>T (p.Ala1488=) n.274C>T c.4500C>T (p.Ala1500=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.128608907G>A | CA318705 | SPTAN1 | c.4561G>A (p.Asp1521Asn) c.4525G>A (p.Asp1509Asn) c.3988G>A (p.Asp1330Asn) c.2148G>A c.135G>A n.5660G>A c.4465G>A (p.Asp1489Asn) n.275G>A c.4501G>A (p.Asp1501Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.128608907G>C | CA375068287 | SPTAN1 | c.4561G>C (p.Asp1521His) c.4525G>C (p.Asp1509His) c.3988G>C (p.Asp1330His) c.2148G>C c.135G>C n.5660G>C c.4465G>C (p.Asp1489His) n.275G>C c.4501G>C (p.Asp1501His) | |
9 | g.128608907G= | CA1880360381 | SPTAN1 | c.4561G= (p.Asp1521=) c.4525G= (p.Asp1509=) c.3988G= (p.Asp1330=) c.2148G= c.135G= n.5660G= c.4465G= (p.Asp1489=) n.275G= c.4501G= (p.Asp1501=) | |
9 | g.128608907G>T | CA375068288 | SPTAN1 | c.4561G>T (p.Asp1521Tyr) c.4525G>T (p.Asp1509Tyr) c.3988G>T (p.Asp1330Tyr) c.2148G>T c.135G>T n.5660G>T c.4465G>T (p.Asp1489Tyr) n.275G>T c.4501G>T (p.Asp1501Tyr) | gnomAD v4 |
9 | g.128608908A>C | CA375068290 | SPTAN1 | c.4562A>C (p.Asp1521Ala) c.4526A>C (p.Asp1509Ala) c.3989A>C (p.Asp1330Ala) c.2149A>C c.136A>C n.5661A>C c.4466A>C (p.Asp1489Ala) n.276A>C c.4502A>C (p.Asp1501Ala) | |
9 | g.128608908A>G | CA375068291 | SPTAN1 | c.4562A>G (p.Asp1521Gly) c.4526A>G (p.Asp1509Gly) c.3989A>G (p.Asp1330Gly) c.2149A>G c.136A>G n.5661A>G c.4466A>G (p.Asp1489Gly) n.276A>G c.4502A>G (p.Asp1501Gly) | ClinVar |
9 | g.128608908A>T | CA375068292 | SPTAN1 | c.4562A>T (p.Asp1521Val) c.4526A>T (p.Asp1509Val) c.3989A>T (p.Asp1330Val) c.2149A>T c.136A>T n.5661A>T c.4466A>T (p.Asp1489Val) n.276A>T c.4502A>T (p.Asp1501Val) | |
9 | g.128608909C>A | CA318620 | SPTAN1 | c.4563C>A (p.Asp1521Glu) c.4527C>A (p.Asp1509Glu) c.3990C>A (p.Asp1330Glu) c.2150C>A c.137C>A n.5662C>A c.4467C>A (p.Asp1489Glu) n.277C>A c.4503C>A (p.Asp1501Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.128608909C= | CA1880360382 | SPTAN1 | c.4563C= (p.Asp1521=) c.4527C= (p.Asp1509=) c.3990C= (p.Asp1330=) c.2150C= c.137C= n.5662C= c.4467C= (p.Asp1489=) n.277C= c.4503C= (p.Asp1501=) | |
9 | g.128608909C>G | CA375068294 | SPTAN1 | c.4563C>G (p.Asp1521Glu) c.4527C>G (p.Asp1509Glu) c.3990C>G (p.Asp1330Glu) c.2150C>G c.137C>G n.5662C>G c.4467C>G (p.Asp1489Glu) n.277C>G c.4503C>G (p.Asp1501Glu) | |
9 | g.128608909C>T | CA467484909 | SPTAN1 | c.4563C>T (p.Asp1521=) c.4527C>T (p.Asp1509=) c.3990C>T (p.Asp1330=) c.2150C>T c.137C>T n.5662C>T c.4467C>T (p.Asp1489=) n.277C>T c.4503C>T (p.Asp1501=) | gnomAD v4 |
9 | g.128608910C>A | CA375068295 | SPTAN1 | c.4564C>A (p.Gln1522Lys) c.4528C>A (p.Gln1510Lys) c.3991C>A (p.Gln1331Lys) c.2151C>A c.138C>A n.5663C>A c.4468C>A (p.Gln1490Lys) n.278C>A c.4504C>A (p.Gln1502Lys) | |
9 | g.128608910C>G | CA375068299 | SPTAN1 | c.4564C>G (p.Gln1522Glu) c.4528C>G (p.Gln1510Glu) c.3991C>G (p.Gln1331Glu) c.2151C>G c.138C>G n.5663C>G c.4468C>G (p.Gln1490Glu) n.278C>G c.4504C>G (p.Gln1502Glu) | |
9 | g.128608910C>T | CA375068297 | SPTAN1 | c.4564C>T (p.Gln1522Ter) c.4528C>T (p.Gln1510Ter) c.3991C>T (p.Gln1331Ter) c.2151C>T c.138C>T n.5663C>T c.4468C>T (p.Gln1490Ter) n.278C>T c.4504C>T (p.Gln1502Ter) | |
9 | g.128608911A>C | CA375068300 | SPTAN1 | c.4565A>C (p.Gln1522Pro) c.4529A>C (p.Gln1510Pro) c.3992A>C (p.Gln1331Pro) c.2152A>C c.139A>C n.5664A>C c.4469A>C (p.Gln1490Pro) n.279A>C c.4505A>C (p.Gln1502Pro) | COSMIC COSMIC |
9 | g.128608911A>G | CA375068301 | SPTAN1 | c.4565A>G (p.Gln1522Arg) c.4529A>G (p.Gln1510Arg) c.3992A>G (p.Gln1331Arg) c.2152A>G c.139A>G n.5664A>G c.4469A>G (p.Gln1490Arg) n.279A>G c.4505A>G (p.Gln1502Arg) | |
9 | g.128608911A>T | CA375068303 | SPTAN1 | c.4565A>T (p.Gln1522Leu) c.4529A>T (p.Gln1510Leu) c.3992A>T (p.Gln1331Leu) c.2152A>T c.139A>T n.5664A>T c.4469A>T (p.Gln1490Leu) n.279A>T c.4505A>T (p.Gln1502Leu) | |
9 | g.128608912G>A | CA467484910 | SPTAN1 | c.4566G>A (p.Gln1522=) c.4530G>A (p.Gln1510=) c.3993G>A (p.Gln1331=) c.2153G>A c.140G>A n.5665G>A c.4470G>A (p.Gln1490=) n.280G>A c.4506G>A (p.Gln1502=) | dbSNP |
9 | g.128608912G>C | CA375068305 | SPTAN1 | c.4566G>C (p.Gln1522His) c.4530G>C (p.Gln1510His) c.3993G>C (p.Gln1331His) c.2153G>C c.140G>C n.5665G>C c.4470G>C (p.Gln1490His) n.280G>C c.4506G>C (p.Gln1502His) | |
9 | g.128608912G= | CA1880360383 | SPTAN1 | c.4566G= (p.Gln1522=) c.4530G= (p.Gln1510=) c.3993G= (p.Gln1331=) c.2153G= c.140G= n.5665G= c.4470G= (p.Gln1490=) n.280G= c.4506G= (p.Gln1502=) | |
9 | g.128608912G>T | CA375068306 | SPTAN1 | c.4566G>T (p.Gln1522His) c.4530G>T (p.Gln1510His) c.3993G>T (p.Gln1331His) c.2153G>T c.140G>T n.5665G>T c.4470G>T (p.Gln1490His) n.280G>T c.4506G>T (p.Gln1502His) | |
9 | g.128608913C>A | CA375068308 | SPTAN1 | c.4567C>A (p.Leu1523Ile) c.4531C>A (p.Leu1511Ile) c.3994C>A (p.Leu1332Ile) c.2154C>A c.141C>A n.5666C>A c.4471C>A (p.Leu1491Ile) n.281C>A c.4507C>A (p.Leu1503Ile) | |
9 | g.128608913C>G | CA375068309 | SPTAN1 | c.4567C>G (p.Leu1523Val) c.4531C>G (p.Leu1511Val) c.3994C>G (p.Leu1332Val) c.2154C>G c.141C>G n.5666C>G c.4471C>G (p.Leu1491Val) n.281C>G c.4507C>G (p.Leu1503Val) | |
9 | g.128608913C>T | CA375068310 | SPTAN1 | c.4567C>T (p.Leu1523Phe) c.4531C>T (p.Leu1511Phe) c.3994C>T (p.Leu1332Phe) c.2154C>T c.141C>T n.5666C>T c.4471C>T (p.Leu1491Phe) n.281C>T c.4507C>T (p.Leu1503Phe) | |
9 | g.128608914T>A | CA375068311 | SPTAN1 | c.4568T>A (p.Leu1523His) c.4532T>A (p.Leu1511His) c.3995T>A (p.Leu1332His) c.2155T>A c.142T>A n.5667T>A c.4472T>A (p.Leu1491His) n.282T>A c.4508T>A (p.Leu1503His) | |
9 | g.128608914T>C | CA5265204 | SPTAN1 | c.4568T>C (p.Leu1523Pro) c.4532T>C (p.Leu1511Pro) c.3995T>C (p.Leu1332Pro) c.2155T>C c.142T>C n.5667T>C c.4472T>C (p.Leu1491Pro) n.282T>C c.4508T>C (p.Leu1503Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.128608914T>G | CA375068313 | SPTAN1 | c.4568T>G (p.Leu1523Arg) c.4532T>G (p.Leu1511Arg) c.3995T>G (p.Leu1332Arg) c.2155T>G c.142T>G n.5667T>G c.4472T>G (p.Leu1491Arg) n.282T>G c.4508T>G (p.Leu1503Arg) | |
9 | g.128608914T= | CA1880360384 | SPTAN1 | c.4568T= (p.Leu1523=) c.4532T= (p.Leu1511=) c.3995T= (p.Leu1332=) c.2155T= c.142T= n.5667T= c.4472T= (p.Leu1491=) n.282T= c.4508T= (p.Leu1503=) | |
9 | g.128608915C>A | CA467484911 | SPTAN1 | c.4569C>A (p.Leu1523=) c.4533C>A (p.Leu1511=) c.3996C>A (p.Leu1332=) c.2156C>A c.143C>A n.5668C>A c.4473C>A (p.Leu1491=) n.283C>A c.4509C>A (p.Leu1503=) | gnomAD v4 |
9 | g.128608915C= | CA1880360385 | SPTAN1 | c.4569C= (p.Leu1523=) c.4533C= (p.Leu1511=) c.3996C= (p.Leu1332=) c.2156C= c.143C= n.5668C= c.4473C= (p.Leu1491=) n.283C= c.4509C= (p.Leu1503=) | |
9 | g.128608915C>G | CA200399194 | SPTAN1 | c.4569C>G (p.Leu1523=) c.4533C>G (p.Leu1511=) c.3996C>G (p.Leu1332=) c.2156C>G c.143C>G n.5668C>G c.4473C>G (p.Leu1491=) n.283C>G c.4509C>G (p.Leu1503=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.128608915C>T | CA5265205 | SPTAN1 | c.4569C>T (p.Leu1523=) c.4533C>T (p.Leu1511=) c.3996C>T (p.Leu1332=) c.2156C>T c.143C>T n.5668C>T c.4473C>T (p.Leu1491=) n.283C>T c.4509C>T (p.Leu1503=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.128608916A>C | CA375068320 | SPTAN1 | c.4570A>C (p.Ile1524Leu) c.4534A>C (p.Ile1512Leu) c.3997A>C (p.Ile1333Leu) c.2157A>C c.144A>C n.5669A>C c.4474A>C (p.Ile1492Leu) n.284A>C c.4510A>C (p.Ile1504Leu) | |
9 | g.128608916A>G | CA375068322 | SPTAN1 | c.4570A>G (p.Ile1524Val) c.4534A>G (p.Ile1512Val) c.3997A>G (p.Ile1333Val) c.2157A>G c.144A>G n.5669A>G c.4474A>G (p.Ile1492Val) n.284A>G c.4510A>G (p.Ile1504Val) | |
9 | g.128608916A>T | CA375068323 | SPTAN1 | c.4570A>T (p.Ile1524Phe) c.4534A>T (p.Ile1512Phe) c.3997A>T (p.Ile1333Phe) c.2157A>T c.144A>T n.5669A>T c.4474A>T (p.Ile1492Phe) n.284A>T c.4510A>T (p.Ile1504Phe) | |
9 | g.128608917T>A | CA200399196 | SPTAN1 | c.4571T>A (p.Ile1524Asn) c.4535T>A (p.Ile1512Asn) c.3998T>A (p.Ile1333Asn) c.2158T>A c.145T>A n.5670T>A c.4475T>A (p.Ile1492Asn) n.285T>A c.4511T>A (p.Ile1504Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.128608917T>C | CA375068325 | SPTAN1 | c.4571T>C (p.Ile1524Thr) c.4535T>C (p.Ile1512Thr) c.3998T>C (p.Ile1333Thr) c.2158T>C c.145T>C n.5670T>C c.4475T>C (p.Ile1492Thr) n.285T>C c.4511T>C (p.Ile1504Thr) | |
9 | g.128608917T>G | CA375068327 | SPTAN1 | c.4571T>G (p.Ile1524Ser) c.4535T>G (p.Ile1512Ser) c.3998T>G (p.Ile1333Ser) c.2158T>G c.145T>G n.5670T>G c.4475T>G (p.Ile1492Ser) n.285T>G c.4511T>G (p.Ile1504Ser) | |
9 | g.128608917T= | CA1880360386 | SPTAN1 | c.4571T= (p.Ile1524=) c.4535T= (p.Ile1512=) c.3998T= (p.Ile1333=) c.2158T= c.145T= n.5670T= c.4475T= (p.Ile1492=) n.285T= c.4511T= (p.Ile1504=) | |
9 | g.128608918C>A | CA467484912 | SPTAN1 | c.4572C>A (p.Ile1524=) c.4536C>A (p.Ile1512=) c.3999C>A (p.Ile1333=) c.2159C>A c.146C>A n.5671C>A c.4476C>A (p.Ile1492=) n.286C>A c.4512C>A (p.Ile1504=) | gnomAD v4 |
9 | g.128608918C= | CA1880360387 | SPTAN1 | c.4572C= (p.Ile1524=) c.4536C= (p.Ile1512=) c.3999C= (p.Ile1333=) c.2159C= c.146C= n.5671C= c.4476C= (p.Ile1492=) n.286C= c.4512C= (p.Ile1504=) | |
9 | g.128608918C>G | CA375068329 | SPTAN1 | c.4572C>G (p.Ile1524Met) c.4536C>G (p.Ile1512Met) c.3999C>G (p.Ile1333Met) c.2159C>G c.146C>G n.5671C>G c.4476C>G (p.Ile1492Met) n.286C>G c.4512C>G (p.Ile1504Met) | |
9 | g.128608918C>T | CA5265206 | SPTAN1 | c.4572C>T (p.Ile1524=) c.4536C>T (p.Ile1512=) c.3999C>T (p.Ile1333=) c.2159C>T c.146C>T n.5671C>T c.4476C>T (p.Ile1492=) n.286C>T c.4512C>T (p.Ile1504=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.128608919G>A | CA5265207 | SPTAN1 | c.4573G>A (p.Ala1525Thr) c.4537G>A (p.Ala1513Thr) c.4000G>A (p.Ala1334Thr) c.2160G>A c.147G>A n.5672G>A c.4477G>A (p.Ala1493Thr) n.287G>A c.4513G>A (p.Ala1505Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
9 | g.128608919G>C | CA375068330 | SPTAN1 | c.4573G>C (p.Ala1525Pro) c.4537G>C (p.Ala1513Pro) c.4000G>C (p.Ala1334Pro) c.2160G>C c.147G>C n.5672G>C c.4477G>C (p.Ala1493Pro) n.287G>C c.4513G>C (p.Ala1505Pro) | gnomAD v4 |
9 | g.128608919G= | CA1880360388 | SPTAN1 | c.4573G= (p.Ala1525=) c.4537G= (p.Ala1513=) c.4000G= (p.Ala1334=) c.2160G= c.147G= n.5672G= c.4477G= (p.Ala1493=) n.287G= c.4513G= (p.Ala1505=) | |
9 | g.128608919G>T | CA375068332 | SPTAN1 | c.4573G>T (p.Ala1525Ser) c.4537G>T (p.Ala1513Ser) c.4000G>T (p.Ala1334Ser) c.2160G>T c.147G>T n.5672G>T c.4477G>T (p.Ala1493Ser) n.287G>T c.4513G>T (p.Ala1505Ser) | |
9 | g.128608920C>A | CA375068334 | SPTAN1 | c.4574C>A (p.Ala1525Asp) c.4538C>A (p.Ala1513Asp) c.4001C>A (p.Ala1334Asp) c.2161C>A c.148C>A n.5673C>A c.4478C>A (p.Ala1493Asp) n.288C>A c.4514C>A (p.Ala1505Asp) | |
9 | g.128608920C>G | CA375068336 | SPTAN1 | c.4574C>G (p.Ala1525Gly) c.4538C>G (p.Ala1513Gly) c.4001C>G (p.Ala1334Gly) c.2161C>G c.148C>G n.5673C>G c.4478C>G (p.Ala1493Gly) n.288C>G c.4514C>G (p.Ala1505Gly) | gnomAD v4 |
9 | g.128608920C>T | CA375068337 | SPTAN1 | c.4574C>T (p.Ala1525Val) c.4538C>T (p.Ala1513Val) c.4001C>T (p.Ala1334Val) c.2161C>T c.148C>T n.5673C>T c.4478C>T (p.Ala1493Val) n.288C>T c.4514C>T (p.Ala1505Val) | |
9 | g.128608921T>A | CA467484913 | SPTAN1 | c.4575T>A (p.Ala1525=) c.4539T>A (p.Ala1513=) c.4002T>A (p.Ala1334=) c.2162T>A c.149T>A n.5674T>A c.4479T>A (p.Ala1493=) n.289T>A c.4515T>A (p.Ala1505=) | |
9 | g.128608921T>C | CA467484914 | SPTAN1 | c.4575T>C (p.Ala1525=) c.4539T>C (p.Ala1513=) c.4002T>C (p.Ala1334=) c.2162T>C c.149T>C n.5674T>C c.4479T>C (p.Ala1493=) n.289T>C c.4515T>C (p.Ala1505=) | |
9 | g.128608921T>G | CA467484915 | SPTAN1 | c.4575T>G (p.Ala1525=) c.4539T>G (p.Ala1513=) c.4002T>G (p.Ala1334=) c.2162T>G c.149T>G n.5674T>G c.4479T>G (p.Ala1493=) n.289T>G c.4515T>G (p.Ala1505=) | |
9 | g.128608922G>A | CA5265208 | SPTAN1 | c.4576G>A (p.Ala1526Thr) c.4540G>A (p.Ala1514Thr) c.4003G>A (p.Ala1335Thr) c.2163G>A c.150G>A n.5675G>A c.4480G>A (p.Ala1494Thr) n.290G>A c.4516G>A (p.Ala1506Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.128608922G>C | CA375068339 | SPTAN1 | c.4576G>C (p.Ala1526Pro) c.4540G>C (p.Ala1514Pro) c.4003G>C (p.Ala1335Pro) c.2163G>C c.150G>C n.5675G>C c.4480G>C (p.Ala1494Pro) n.290G>C c.4516G>C (p.Ala1506Pro) | |
9 | g.128608922G= | CA1880360389 | SPTAN1 | c.4576G= (p.Ala1526=) c.4540G= (p.Ala1514=) c.4003G= (p.Ala1335=) c.2163G= c.150G= n.5675G= c.4480G= (p.Ala1494=) n.290G= c.4516G= (p.Ala1506=) | |
9 | g.128608922G>T | CA375068338 | SPTAN1 | c.4576G>T (p.Ala1526Ser) c.4540G>T (p.Ala1514Ser) c.4003G>T (p.Ala1335Ser) c.2163G>T c.150G>T n.5675G>T c.4480G>T (p.Ala1494Ser) n.290G>T c.4516G>T (p.Ala1506Ser) | |
9 | g.128608923C>A | CA375068340 | SPTAN1 | c.4577C>A (p.Ala1526Asp) c.4541C>A (p.Ala1514Asp) c.4004C>A (p.Ala1335Asp) c.2164C>A c.151C>A n.5676C>A c.4481C>A (p.Ala1494Asp) n.291C>A c.4517C>A (p.Ala1506Asp) | |
9 | g.128608923C>G | CA375068341 | SPTAN1 | c.4577C>G (p.Ala1526Gly) c.4541C>G (p.Ala1514Gly) c.4004C>G (p.Ala1335Gly) c.2164C>G c.151C>G n.5676C>G c.4481C>G (p.Ala1494Gly) n.291C>G c.4517C>G (p.Ala1506Gly) | |
9 | g.128608923C>T | CA375068343 | SPTAN1 | c.4577C>T (p.Ala1526Val) c.4541C>T (p.Ala1514Val) c.4004C>T (p.Ala1335Val) c.2164C>T c.151C>T n.5676C>T c.4481C>T (p.Ala1494Val) n.291C>T c.4517C>T (p.Ala1506Val) | gnomAD v4 |
9 | g.128608924C>A | CA467484916 | SPTAN1 | c.4578C>A (p.Ala1526=) c.4542C>A (p.Ala1514=) c.4005C>A (p.Ala1335=) c.2165C>A c.152C>A n.5677C>A c.4482C>A (p.Ala1494=) n.292C>A c.4518C>A (p.Ala1506=) | |
9 | g.128608924C= | CA1880360390 | SPTAN1 | c.4578C= (p.Ala1526=) c.4542C= (p.Ala1514=) c.4005C= (p.Ala1335=) c.2165C= c.152C= n.5677C= c.4482C= (p.Ala1494=) n.292C= c.4518C= (p.Ala1506=) | |
9 | g.128608924C>G | CA467484917 | SPTAN1 | c.4578C>G (p.Ala1526=) c.4542C>G (p.Ala1514=) c.4005C>G (p.Ala1335=) c.2165C>G c.152C>G n.5677C>G c.4482C>G (p.Ala1494=) n.292C>G c.4518C>G (p.Ala1506=) | |
9 | g.128608924C>T | CA5265209 | SPTAN1 | c.4578C>T (p.Ala1526=) c.4542C>T (p.Ala1514=) c.4005C>T (p.Ala1335=) c.2165C>T c.152C>T n.5677C>T c.4482C>T (p.Ala1494=) n.292C>T c.4518C>T (p.Ala1506=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
9 | g.128608925G>A | CA5265210 | SPTAN1 | c.4579G>A (p.Gly1527Ser) c.4543G>A (p.Gly1515Ser) c.4006G>A (p.Gly1336Ser) c.2166G>A c.153G>A n.5678G>A c.4483G>A (p.Gly1495Ser) n.293G>A c.4519G>A (p.Gly1507Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.128608925G>C | CA375068346 | SPTAN1 | c.4579G>C (p.Gly1527Arg) c.4543G>C (p.Gly1515Arg) c.4006G>C (p.Gly1336Arg) c.2166G>C c.153G>C n.5678G>C c.4483G>C (p.Gly1495Arg) n.293G>C c.4519G>C (p.Gly1507Arg) | |
9 | g.128608925G= | CA1880360391 | SPTAN1 | c.4579G= (p.Gly1527=) c.4543G= (p.Gly1515=) c.4006G= (p.Gly1336=) c.2166G= c.153G= n.5678G= c.4483G= (p.Gly1495=) n.293G= c.4519G= (p.Gly1507=) | |
9 | g.128608925G>T | CA5265211 | SPTAN1 | c.4579G>T (p.Gly1527Cys) c.4543G>T (p.Gly1515Cys) c.4006G>T (p.Gly1336Cys) c.2166G>T c.153G>T n.5678G>T c.4483G>T (p.Gly1495Cys) n.293G>T c.4519G>T (p.Gly1507Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.128608926G>A | CA375068349 | SPTAN1 | c.4580G>A (p.Gly1527Asp) c.4544G>A (p.Gly1515Asp) c.4007G>A (p.Gly1336Asp) c.2167G>A c.154G>A n.5679G>A c.4484G>A (p.Gly1495Asp) n.294G>A c.4520G>A (p.Gly1507Asp) | |
9 | g.128608926G>C | CA375068350 | SPTAN1 | c.4580G>C (p.Gly1527Ala) c.4544G>C (p.Gly1515Ala) c.4007G>C (p.Gly1336Ala) c.2167G>C c.154G>C n.5679G>C c.4484G>C (p.Gly1495Ala) n.294G>C c.4520G>C (p.Gly1507Ala) | |
9 | g.128608926G>T | CA375068352 | SPTAN1 | c.4580G>T (p.Gly1527Val) c.4544G>T (p.Gly1515Val) c.4007G>T (p.Gly1336Val) c.2167G>T c.154G>T n.5679G>T c.4484G>T (p.Gly1495Val) n.294G>T c.4520G>T (p.Gly1507Val) | |
9 | g.128608927C>A | CA467484919 | SPTAN1 | c.4581C>A (p.Gly1527=) c.4545C>A (p.Gly1515=) c.4008C>A (p.Gly1336=) c.2168C>A c.155C>A n.5680C>A c.4485C>A (p.Gly1495=) n.295C>A c.4521C>A (p.Gly1507=) | |
9 | g.128608927C= | CA1880360392 | SPTAN1 | c.4581C= (p.Gly1527=) c.4545C= (p.Gly1515=) c.4008C= (p.Gly1336=) c.2168C= c.155C= n.5680C= c.4485C= (p.Gly1495=) n.295C= c.4521C= (p.Gly1507=) | |
9 | g.128608927C>G | CA5265212 | SPTAN1 | c.4581C>G (p.Gly1527=) c.4545C>G (p.Gly1515=) c.4008C>G (p.Gly1336=) c.2168C>G c.155C>G n.5680C>G c.4485C>G (p.Gly1495=) n.295C>G c.4521C>G (p.Gly1507=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.128608927C>T | CA467484918 | SPTAN1 | c.4581C>T (p.Gly1527=) c.4545C>T (p.Gly1515=) c.4008C>T (p.Gly1336=) c.2168C>T c.155C>T n.5680C>T c.4485C>T (p.Gly1495=) n.295C>T c.4521C>T (p.Gly1507=) | |
9 | g.128608928C>A | CA375068359 | SPTAN1 | c.4582C>A (p.His1528Asn) c.4546C>A (p.His1516Asn) c.4009C>A (p.His1337Asn) c.2169C>A c.156C>A n.5681C>A c.4486C>A (p.His1496Asn) n.296C>A c.4522C>A (p.His1508Asn) | |
9 | g.128608928C>G | CA375068357 | SPTAN1 | c.4582C>G (p.His1528Asp) c.4546C>G (p.His1516Asp) c.4009C>G (p.His1337Asp) c.2169C>G c.156C>G n.5681C>G c.4486C>G (p.His1496Asp) n.296C>G c.4522C>G (p.His1508Asp) | |
9 | g.128608928C>T | CA375068355 | SPTAN1 | c.4582C>T (p.His1528Tyr) c.4546C>T (p.His1516Tyr) c.4009C>T (p.His1337Tyr) c.2169C>T c.156C>T n.5681C>T c.4486C>T (p.His1496Tyr) n.296C>T c.4522C>T (p.His1508Tyr) | |
9 | g.128608929A= | CA1880360393 | SPTAN1 | c.4583A= (p.His1528=) c.4547A= (p.His1516=) c.4010A= (p.His1337=) c.2170A= c.157A= n.5682A= c.4487A= (p.His1496=) n.297A= c.4523A= (p.His1508=) | |
9 | g.128608929A>C | CA16612727 | SPTAN1 | c.4583A>C (p.His1528Pro) c.4547A>C (p.His1516Pro) c.4010A>C (p.His1337Pro) c.2170A>C c.157A>C n.5682A>C c.4487A>C (p.His1496Pro) n.297A>C c.4523A>C (p.His1508Pro) | ClinVar dbSNP gnomAD v4 |
9 | g.128608929A>G | CA375068363 | SPTAN1 | c.4583A>G (p.His1528Arg) c.4547A>G (p.His1516Arg) c.4010A>G (p.His1337Arg) c.2170A>G c.157A>G n.5682A>G c.4487A>G (p.His1496Arg) n.297A>G c.4523A>G (p.His1508Arg) | ClinVar dbSNP gnomAD v4 |
9 | g.128608929A>T | CA375068361 | SPTAN1 | c.4583A>T (p.His1528Leu) c.4547A>T (p.His1516Leu) c.4010A>T (p.His1337Leu) c.2170A>T c.157A>T n.5682A>T c.4487A>T (p.His1496Leu) n.297A>T c.4523A>T (p.His1508Leu) | |
9 | g.128608930T>A | CA375068364 | SPTAN1 | c.4584T>A (p.His1528Gln) c.4548T>A (p.His1516Gln) c.4011T>A (p.His1337Gln) c.2171T>A c.158T>A n.5683T>A c.4488T>A (p.His1496Gln) n.298T>A c.4524T>A (p.His1508Gln) | |
9 | g.128608930T>C | CA200399211 | SPTAN1 | c.4584T>C (p.His1528=) c.4548T>C (p.His1516=) c.4011T>C (p.His1337=) c.2171T>C c.158T>C n.5683T>C c.4488T>C (p.His1496=) n.298T>C c.4524T>C (p.His1508=) | dbSNP |
9 | g.128608930T>G | CA375068365 | SPTAN1 | c.4584T>G (p.His1528Gln) c.4548T>G (p.His1516Gln) c.4011T>G (p.His1337Gln) c.2171T>G c.158T>G n.5683T>G c.4488T>G (p.His1496Gln) n.298T>G c.4524T>G (p.His1508Gln) | |
9 | g.128608930T= | CA1880360394 | SPTAN1 | c.4584T= (p.His1528=) c.4548T= (p.His1516=) c.4011T= (p.His1337=) c.2171T= c.158T= n.5683T= c.4488T= (p.His1496=) n.298T= c.4524T= (p.His1508=) | |
9 | g.128608931T>A | CA375068367 | SPTAN1 | c.4585T>A (p.Tyr1529Asn) c.4549T>A (p.Tyr1517Asn) c.4012T>A (p.Tyr1338Asn) c.2172T>A c.159T>A n.5684T>A c.4489T>A (p.Tyr1497Asn) n.299T>A c.4525T>A (p.Tyr1509Asn) | |
9 | g.128608931T>C | CA375068369 | SPTAN1 | c.4585T>C (p.Tyr1529His) c.4549T>C (p.Tyr1517His) c.4012T>C (p.Tyr1338His) c.2172T>C c.159T>C n.5684T>C c.4489T>C (p.Tyr1497His) n.299T>C c.4525T>C (p.Tyr1509His) | gnomAD v4 |
9 | g.128608931T>G | CA375068370 | SPTAN1 | c.4585T>G (p.Tyr1529Asp) c.4549T>G (p.Tyr1517Asp) c.4012T>G (p.Tyr1338Asp) c.2172T>G c.159T>G n.5684T>G c.4489T>G (p.Tyr1497Asp) n.299T>G c.4525T>G (p.Tyr1509Asp) | |
9 | g.128608932A>C | CA375068372 | SPTAN1 | c.4586A>C (p.Tyr1529Ser) c.4550A>C (p.Tyr1517Ser) c.4013A>C (p.Tyr1338Ser) c.2173A>C c.160A>C n.5685A>C c.4490A>C (p.Tyr1497Ser) n.300A>C c.4526A>C (p.Tyr1509Ser) | |
9 | g.128608932A>G | CA375068373 | SPTAN1 | c.4586A>G (p.Tyr1529Cys) c.4550A>G (p.Tyr1517Cys) c.4013A>G (p.Tyr1338Cys) c.2173A>G c.160A>G n.5685A>G c.4490A>G (p.Tyr1497Cys) n.300A>G c.4526A>G (p.Tyr1509Cys) | gnomAD v4 |
9 | g.128608932A>T | CA375068375 | SPTAN1 | c.4586A>T (p.Tyr1529Phe) c.4550A>T (p.Tyr1517Phe) c.4013A>T (p.Tyr1338Phe) c.2173A>T c.160A>T n.5685A>T c.4490A>T (p.Tyr1497Phe) n.300A>T c.4526A>T (p.Tyr1509Phe) | gnomAD v4 |
9 | g.128608933T>A | CA375068377 | SPTAN1 | c.4587T>A (p.Tyr1529Ter) c.4551T>A (p.Tyr1517Ter) c.4014T>A (p.Tyr1338Ter) c.2174T>A c.161T>A n.5686T>A c.4491T>A (p.Tyr1497Ter) n.301T>A c.4527T>A (p.Tyr1509Ter) | |
9 | g.128608933T>C | CA5265213 | SPTAN1 | c.4587T>C (p.Tyr1529=) c.4551T>C (p.Tyr1517=) c.4014T>C (p.Tyr1338=) c.2174T>C c.161T>C n.5686T>C c.4491T>C (p.Tyr1497=) n.301T>C c.4527T>C (p.Tyr1509=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.128608933T>G | CA375068378 | SPTAN1 | c.4587T>G (p.Tyr1529Ter) c.4551T>G (p.Tyr1517Ter) c.4014T>G (p.Tyr1338Ter) c.2174T>G c.161T>G n.5686T>G c.4491T>G (p.Tyr1497Ter) n.301T>G c.4527T>G (p.Tyr1509Ter) | |
9 | g.128608933T= | CA1880360395 | SPTAN1 | c.4587T= (p.Tyr1529=) c.4551T= (p.Tyr1517=) c.4014T= (p.Tyr1338=) c.2174T= c.161T= n.5686T= c.4491T= (p.Tyr1497=) n.301T= c.4527T= (p.Tyr1509=) | |
9 | g.128608934G>A | CA375068384 | SPTAN1 | c.4588G>A (p.Ala1530Thr) c.4552G>A (p.Ala1518Thr) c.4015G>A (p.Ala1339Thr) c.2175G>A c.162G>A n.5687G>A c.4492G>A (p.Ala1498Thr) n.302G>A c.4528G>A (p.Ala1510Thr) | ClinVar dbSNP gnomAD v4 |
9 | g.128608934G>C | CA375068382 | SPTAN1 | c.4588G>C (p.Ala1530Pro) c.4552G>C (p.Ala1518Pro) c.4015G>C (p.Ala1339Pro) c.2175G>C c.162G>C n.5687G>C c.4492G>C (p.Ala1498Pro) n.302G>C c.4528G>C (p.Ala1510Pro) | |
9 | g.128608934G= | CA1880360396 | SPTAN1 | c.4588G= (p.Ala1530=) c.4552G= (p.Ala1518=) c.4015G= (p.Ala1339=) c.2175G= c.162G= n.5687G= c.4492G= (p.Ala1498=) n.302G= c.4528G= (p.Ala1510=) | |
9 | g.128608934G>T | CA375068380 | SPTAN1 | c.4588G>T (p.Ala1530Ser) c.4552G>T (p.Ala1518Ser) c.4015G>T (p.Ala1339Ser) c.2175G>T c.162G>T n.5687G>T c.4492G>T (p.Ala1498Ser) n.302G>T c.4528G>T (p.Ala1510Ser) | |
9 | g.128608935C>A | CA375068386 | SPTAN1 | c.4589C>A (p.Ala1530Asp) c.4553C>A (p.Ala1518Asp) c.4016C>A (p.Ala1339Asp) c.2176C>A c.163C>A n.5688C>A c.4493C>A (p.Ala1498Asp) n.303C>A c.4529C>A (p.Ala1510Asp) | |
9 | g.128608935C>G | CA375068387 | SPTAN1 | c.4589C>G (p.Ala1530Gly) c.4553C>G (p.Ala1518Gly) c.4016C>G (p.Ala1339Gly) c.2176C>G c.163C>G n.5688C>G c.4493C>G (p.Ala1498Gly) n.303C>G c.4529C>G (p.Ala1510Gly) | |
9 | g.128608935C>T | CA375068389 | SPTAN1 | c.4589C>T (p.Ala1530Val) c.4553C>T (p.Ala1518Val) c.4016C>T (p.Ala1339Val) c.2176C>T c.163C>T n.5688C>T c.4493C>T (p.Ala1498Val) n.303C>T c.4529C>T (p.Ala1510Val) | |
9 | g.128608936C>A | CA467484920 | SPTAN1 | c.4590C>A (p.Ala1530=) c.4554C>A (p.Ala1518=) c.4017C>A (p.Ala1339=) c.2177C>A c.164C>A n.5689C>A c.4494C>A (p.Ala1498=) n.304C>A c.4530C>A (p.Ala1510=) | |
9 | g.128608936C= | CA1880360397 | SPTAN1 | c.4590C= (p.Ala1530=) c.4554C= (p.Ala1518=) c.4017C= (p.Ala1339=) c.2177C= c.164C= n.5689C= c.4494C= (p.Ala1498=) n.304C= c.4530C= (p.Ala1510=) | |
9 | g.128608936C>G | CA5265214 | SPTAN1 | c.4590C>G (p.Ala1530=) c.4554C>G (p.Ala1518=) c.4017C>G (p.Ala1339=) c.2177C>G c.164C>G n.5689C>G c.4494C>G (p.Ala1498=) n.304C>G c.4530C>G (p.Ala1510=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.128608936C>T | CA200399213 | SPTAN1 | c.4590C>T (p.Ala1530=) c.4554C>T (p.Ala1518=) c.4017C>T (p.Ala1339=) c.2177C>T c.164C>T n.5689C>T c.4494C>T (p.Ala1498=) n.304C>T c.4530C>T (p.Ala1510=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.128608937A= | CA1880360398 | SPTAN1 | c.4591A= (p.Lys1531=) c.4555A= (p.Lys1519=) c.4018A= (p.Lys1340=) c.2178A= c.165A= n.5690A= c.4495A= (p.Lys1499=) n.305A= c.4531A= (p.Lys1511=) | |
9 | g.128608937A>C | CA375068392 | SPTAN1 | c.4591A>C (p.Lys1531Gln) c.4555A>C (p.Lys1519Gln) c.4018A>C (p.Lys1340Gln) c.2178A>C c.165A>C n.5690A>C c.4495A>C (p.Lys1499Gln) n.305A>C c.4531A>C (p.Lys1511Gln) | |
9 | g.128608937A>G | CA5265215 | SPTAN1 | c.4591A>G (p.Lys1531Glu) c.4555A>G (p.Lys1519Glu) c.4018A>G (p.Lys1340Glu) c.2178A>G c.165A>G n.5690A>G c.4495A>G (p.Lys1499Glu) n.305A>G c.4531A>G (p.Lys1511Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.128608937A>T | CA375068395 | SPTAN1 | c.4591A>T (p.Lys1531Ter) c.4555A>T (p.Lys1519Ter) c.4018A>T (p.Lys1340Ter) c.2178A>T c.165A>T n.5690A>T c.4495A>T (p.Lys1499Ter) n.305A>T c.4531A>T (p.Lys1511Ter) | |
9 | g.128608938del | CA2513542853 | SPTAN1 | c.4592del (p.Lys1531ArgfsTer18) c.4556del (p.Lys1519ArgfsTer18) c.4019del (p.Lys1340ArgfsTer18) c.2179del c.166del n.5691del c.4496del (p.Lys1499ArgfsTer18) n.306del c.4532del (p.Lys1511ArgfsTer18) | |
9 | g.128608938A= | CA1880360399 | SPTAN1 | c.4592A= (p.Lys1531=) c.4556A= (p.Lys1519=) c.4019A= (p.Lys1340=) c.2179A= c.166A= n.5691A= c.4496A= (p.Lys1499=) n.306A= c.4532A= (p.Lys1511=) | |
9 | g.128608938A>C | CA375068397 | SPTAN1 | c.4592A>C (p.Lys1531Thr) c.4556A>C (p.Lys1519Thr) c.4019A>C (p.Lys1340Thr) c.2179A>C c.166A>C n.5691A>C c.4496A>C (p.Lys1499Thr) n.306A>C c.4532A>C (p.Lys1511Thr) | |
9 | g.128608938A>G | CA375068398 | SPTAN1 | c.4592A>G (p.Lys1531Arg) c.4556A>G (p.Lys1519Arg) c.4019A>G (p.Lys1340Arg) c.2179A>G c.166A>G n.5691A>G c.4496A>G (p.Lys1499Arg) n.306A>G c.4532A>G (p.Lys1511Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.128608938A>T | CA375068399 | SPTAN1 | c.4592A>T (p.Lys1531Met) c.4556A>T (p.Lys1519Met) c.4019A>T (p.Lys1340Met) c.2179A>T c.166A>T n.5691A>T c.4496A>T (p.Lys1499Met) n.306A>T c.4532A>T (p.Lys1511Met) | |
9 | g.128608939G>A | CA467484921 | SPTAN1 | c.4593G>A (p.Lys1531=) c.4557G>A (p.Lys1519=) c.4020G>A (p.Lys1340=) c.2180G>A c.167G>A n.5692G>A c.4497G>A (p.Lys1499=) n.1G>A n.307G>A c.4533G>A (p.Lys1511=) | |
9 | g.128608939G>C | CA375068401 | SPTAN1 | c.4593G>C (p.Lys1531Asn) c.4557G>C (p.Lys1519Asn) c.4020G>C (p.Lys1340Asn) c.2180G>C c.167G>C n.5692G>C c.4497G>C (p.Lys1499Asn) n.1G>C n.307G>C c.4533G>C (p.Lys1511Asn) | |
9 | g.128608939G>T | CA375068403 | SPTAN1 | c.4593G>T (p.Lys1531Asn) c.4557G>T (p.Lys1519Asn) c.4020G>T (p.Lys1340Asn) c.2180G>T c.167G>T n.5692G>T c.4497G>T (p.Lys1499Asn) n.1G>T n.307G>T c.4533G>T (p.Lys1511Asn) | gnomAD v4 |
9 | g.128608940G>A | CA244767 | SPTAN1 | c.4594G>A (p.Gly1532Arg) c.4558G>A (p.Gly1520Arg) c.4021G>A (p.Gly1341Arg) c.2181G>A c.168G>A n.5693G>A c.4498G>A (p.Gly1500Arg) n.2G>A n.308G>A c.4534G>A (p.Gly1512Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
9 | g.128608940G>C | CA375068406 | SPTAN1 | c.4594G>C (p.Gly1532Arg) c.4558G>C (p.Gly1520Arg) c.4021G>C (p.Gly1341Arg) c.2181G>C c.168G>C n.5693G>C c.4498G>C (p.Gly1500Arg) n.2G>C n.308G>C c.4534G>C (p.Gly1512Arg) | |
9 | g.128608940G= | CA1880360400 | SPTAN1 | c.4594G= (p.Gly1532=) c.4558G= (p.Gly1520=) c.4021G= (p.Gly1341=) c.2181G= c.168G= n.5693G= c.4498G= (p.Gly1500=) n.2G= n.308G= c.4534G= (p.Gly1512=) | |
9 | g.128608940G>T | CA375068404 | SPTAN1 | c.4594G>T (p.Gly1532Ter) c.4558G>T (p.Gly1520Ter) c.4021G>T (p.Gly1341Ter) c.2181G>T c.168G>T n.5693G>T c.4498G>T (p.Gly1500Ter) n.2G>T n.308G>T c.4534G>T (p.Gly1512Ter) | |
9 | g.128608941G>A | CA375068409 | SPTAN1 | c.4595G>A (p.Gly1532Glu) c.4559G>A (p.Gly1520Glu) c.4022G>A (p.Gly1341Glu) c.2182G>A c.169G>A n.5694G>A c.4499G>A (p.Gly1500Glu) n.3G>A n.309G>A c.4535G>A (p.Gly1512Glu) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.128608941G>C | CA375068410 | SPTAN1 | c.4595G>C (p.Gly1532Ala) c.4559G>C (p.Gly1520Ala) c.4022G>C (p.Gly1341Ala) c.2182G>C c.169G>C n.5694G>C c.4499G>C (p.Gly1500Ala) n.3G>C n.309G>C c.4535G>C (p.Gly1512Ala) | |
9 | g.128608941G= | CA1880360401 | SPTAN1 | c.4595G= (p.Gly1532=) c.4559G= (p.Gly1520=) c.4022G= (p.Gly1341=) c.2182G= c.169G= n.5694G= c.4499G= (p.Gly1500=) n.3G= n.309G= c.4535G= (p.Gly1512=) | |
9 | g.128608941G>T | CA375068412 | SPTAN1 | c.4595G>T (p.Gly1532Val) c.4559G>T (p.Gly1520Val) c.4022G>T (p.Gly1341Val) c.2182G>T c.169G>T n.5694G>T c.4499G>T (p.Gly1500Val) n.3G>T n.309G>T c.4535G>T (p.Gly1512Val) | |
9 | g.128608942A>C | CA467484922 | SPTAN1 | c.4596A>C (p.Gly1532=) c.4560A>C (p.Gly1520=) c.4023A>C (p.Gly1341=) c.2183A>C c.170A>C n.5695A>C c.4500A>C (p.Gly1500=) n.4A>C n.310A>C c.4536A>C (p.Gly1512=) | |
9 | g.128608942A>G | CA467484923 | SPTAN1 | c.4596A>G (p.Gly1532=) c.4560A>G (p.Gly1520=) c.4023A>G (p.Gly1341=) c.2183A>G c.170A>G n.5695A>G c.4500A>G (p.Gly1500=) n.4A>G n.310A>G c.4536A>G (p.Gly1512=) | |
9 | g.128608942A>T | CA467484924 | SPTAN1 | c.4596A>T (p.Gly1532=) c.4560A>T (p.Gly1520=) c.4023A>T (p.Gly1341=) c.2183A>T c.170A>T n.5695A>T c.4500A>T (p.Gly1500=) n.4A>T n.310A>T c.4536A>T (p.Gly1512=) | |
9 | g.128608943G>A | CA375068414 | SPTAN1 | c.4597G>A (p.Asp1533Asn) c.4561G>A (p.Asp1521Asn) c.4024G>A (p.Asp1342Asn) c.2184G>A c.171G>A n.5696G>A c.4501G>A (p.Asp1501Asn) n.5G>A n.311G>A c.4537G>A (p.Asp1513Asn) | |
9 | g.128608943G>C | CA375068416 | SPTAN1 | c.4597G>C (p.Asp1533His) c.4561G>C (p.Asp1521His) c.4024G>C (p.Asp1342His) c.2184G>C c.171G>C n.5696G>C c.4501G>C (p.Asp1501His) n.5G>C n.311G>C c.4537G>C (p.Asp1513His) | |
9 | g.128608943G>T | CA375068417 | SPTAN1 | c.4597G>T (p.Asp1533Tyr) c.4561G>T (p.Asp1521Tyr) c.4024G>T (p.Asp1342Tyr) c.2184G>T c.171G>T n.5696G>T c.4501G>T (p.Asp1501Tyr) n.5G>T n.311G>T c.4537G>T (p.Asp1513Tyr) | ClinVar |
9 | g.128608944A= | CA1880360402 | SPTAN1 | c.4598A= (p.Asp1533=) c.4562A= (p.Asp1521=) c.4025A= (p.Asp1342=) c.2185A= c.172A= n.5697A= c.4502A= (p.Asp1501=) n.6A= n.312A= c.4538A= (p.Asp1513=) | |
9 | g.128608944A>C | CA375068422 | SPTAN1 | c.4598A>C (p.Asp1533Ala) c.4562A>C (p.Asp1521Ala) c.4025A>C (p.Asp1342Ala) c.2185A>C c.172A>C n.5697A>C c.4502A>C (p.Asp1501Ala) n.6A>C n.312A>C c.4538A>C (p.Asp1513Ala) | |
9 | g.128608944A>G | CA375068419 | SPTAN1 | c.4598A>G (p.Asp1533Gly) c.4562A>G (p.Asp1521Gly) c.4025A>G (p.Asp1342Gly) c.2185A>G c.172A>G n.5697A>G c.4502A>G (p.Asp1501Gly) n.6A>G n.312A>G c.4538A>G (p.Asp1513Gly) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
9 | g.128608944A>T | CA375068420 | SPTAN1 | c.4598A>T (p.Asp1533Val) c.4562A>T (p.Asp1521Val) c.4025A>T (p.Asp1342Val) c.2185A>T c.172A>T n.5697A>T c.4502A>T (p.Asp1501Val) n.6A>T n.312A>T c.4538A>T (p.Asp1513Val) | |
9 | g.128608945C>A | CA375068424 | SPTAN1 | c.4599C>A (p.Asp1533Glu) c.4563C>A (p.Asp1521Glu) c.4026C>A (p.Asp1342Glu) c.2186C>A c.173C>A n.5698C>A c.4503C>A (p.Asp1501Glu) n.7C>A n.313C>A c.4539C>A (p.Asp1513Glu) | |
9 | g.128608945C= | CA1880360403 | SPTAN1 | c.4599C= (p.Asp1533=) c.4563C= (p.Asp1521=) c.4026C= (p.Asp1342=) c.2186C= c.173C= n.5698C= c.4503C= (p.Asp1501=) n.7C= n.313C= c.4539C= (p.Asp1513=) | |
9 | g.128608945C>G | CA375068426 | SPTAN1 | c.4599C>G (p.Asp1533Glu) c.4563C>G (p.Asp1521Glu) c.4026C>G (p.Asp1342Glu) c.2186C>G c.173C>G n.5698C>G c.4503C>G (p.Asp1501Glu) n.7C>G n.313C>G c.4539C>G (p.Asp1513Glu) | |
9 | g.128608945C>T | CA467484925 | SPTAN1 | c.4599C>T (p.Asp1533=) c.4563C>T (p.Asp1521=) c.4026C>T (p.Asp1342=) c.2186C>T c.173C>T n.5698C>T c.4503C>T (p.Asp1501=) n.7C>T n.313C>T c.4539C>T (p.Asp1513=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.128608946A= | CA1880360404 | SPTAN1 | c.4600A= (p.Ile1534=) c.4564A= (p.Ile1522=) c.4027A= (p.Ile1343=) c.2187A= c.174A= n.5699A= c.4504A= (p.Ile1502=) n.8A= n.314A= c.4540A= (p.Ile1514=) | |
9 | g.128608946A>C | CA375068428 | SPTAN1 | c.4600A>C (p.Ile1534Leu) c.4564A>C (p.Ile1522Leu) c.4027A>C (p.Ile1343Leu) c.2187A>C c.174A>C n.5699A>C c.4504A>C (p.Ile1502Leu) n.8A>C n.314A>C c.4540A>C (p.Ile1514Leu) | |
9 | g.128608946A>G | CA5265216 | SPTAN1 | c.4600A>G (p.Ile1534Val) c.4564A>G (p.Ile1522Val) c.4027A>G (p.Ile1343Val) c.2187A>G c.174A>G n.5699A>G c.4504A>G (p.Ile1502Val) n.8A>G n.314A>G c.4540A>G (p.Ile1514Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.128608946A>T | CA375068430 | SPTAN1 | c.4600A>T (p.Ile1534Phe) c.4564A>T (p.Ile1522Phe) c.4027A>T (p.Ile1343Phe) c.2187A>T c.174A>T n.5699A>T c.4504A>T (p.Ile1502Phe) n.8A>T n.314A>T c.4540A>T (p.Ile1514Phe) | |
9 | g.128608947T>A | CA375068433 | SPTAN1 | c.4601T>A (p.Ile1534Asn) c.4565T>A (p.Ile1522Asn) c.4028T>A (p.Ile1343Asn) c.2188T>A c.175T>A n.5700T>A c.4505T>A (p.Ile1502Asn) n.9T>A n.315T>A c.4541T>A (p.Ile1514Asn) | |
9 | g.128608947T>C | CA375068436 | SPTAN1 | c.4601T>C (p.Ile1534Thr) c.4565T>C (p.Ile1522Thr) c.4028T>C (p.Ile1343Thr) c.2188T>C c.175T>C n.5700T>C c.4505T>C (p.Ile1502Thr) n.9T>C n.315T>C c.4541T>C (p.Ile1514Thr) | |
9 | g.128608947T>G | CA375068434 | SPTAN1 | c.4601T>G (p.Ile1534Ser) c.4565T>G (p.Ile1522Ser) c.4028T>G (p.Ile1343Ser) c.2188T>G c.175T>G n.5700T>G c.4505T>G (p.Ile1502Ser) n.9T>G n.315T>G c.4541T>G (p.Ile1514Ser) | |
9 | g.128608948T>A | CA467484926 | SPTAN1 | c.4602T>A (p.Ile1534=) c.4566T>A (p.Ile1522=) c.4029T>A (p.Ile1343=) c.2189T>A c.176T>A n.5701T>A c.4506T>A (p.Ile1502=) n.10T>A n.316T>A c.4542T>A (p.Ile1514=) | |
9 | g.128608948T>C | CA467484927 | SPTAN1 | c.4602T>C (p.Ile1534=) c.4566T>C (p.Ile1522=) c.4029T>C (p.Ile1343=) c.2189T>C c.176T>C n.5701T>C c.4506T>C (p.Ile1502=) n.10T>C n.316T>C c.4542T>C (p.Ile1514=) | |
9 | g.128608948T>G | CA375068438 | SPTAN1 | c.4602T>G (p.Ile1534Met) c.4566T>G (p.Ile1522Met) c.4029T>G (p.Ile1343Met) c.2189T>G c.176T>G n.5701T>G c.4506T>G (p.Ile1502Met) n.10T>G n.316T>G c.4542T>G (p.Ile1514Met) | |
9 | g.128608949T>A | CA5265217 | SPTAN1 | c.4603T>A (p.Ser1535Thr) c.4567T>A (p.Ser1523Thr) c.4030T>A (p.Ser1344Thr) c.2190T>A c.177T>A n.5702T>A c.4507T>A (p.Ser1503Thr) n.11T>A n.317T>A c.4543T>A (p.Ser1515Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.128608949T>C | CA375068442 | SPTAN1 | c.4603T>C (p.Ser1535Pro) c.4567T>C (p.Ser1523Pro) c.4030T>C (p.Ser1344Pro) c.2190T>C c.177T>C n.5702T>C c.4507T>C (p.Ser1503Pro) n.11T>C n.317T>C c.4543T>C (p.Ser1515Pro) | gnomAD v4 |
9 | g.128608949T>G | CA375068444 | SPTAN1 | c.4603T>G (p.Ser1535Ala) c.4567T>G (p.Ser1523Ala) c.4030T>G (p.Ser1344Ala) c.2190T>G c.177T>G n.5702T>G c.4507T>G (p.Ser1503Ala) n.11T>G n.317T>G c.4543T>G (p.Ser1515Ala) | |
9 | g.128608949T= | CA1880360405 | SPTAN1 | c.4603T= (p.Ser1535=) c.4567T= (p.Ser1523=) c.4030T= (p.Ser1344=) c.2190T= c.177T= n.5702T= c.4507T= (p.Ser1503=) n.11T= n.317T= c.4543T= (p.Ser1515=) | |
9 | g.128608950C>A | CA375068446 | SPTAN1 | c.4604C>A (p.Ser1535Tyr) c.4568C>A (p.Ser1523Tyr) c.4031C>A (p.Ser1344Tyr) c.2191C>A c.178C>A n.5703C>A c.4508C>A (p.Ser1503Tyr) n.12C>A n.318C>A c.4544C>A (p.Ser1515Tyr) | |
9 | g.128608950C= | CA1880360406 | SPTAN1 | c.4604C= (p.Ser1535=) c.4568C= (p.Ser1523=) c.4031C= (p.Ser1344=) c.2191C= c.178C= n.5703C= c.4508C= (p.Ser1503=) n.12C= n.318C= c.4544C= (p.Ser1515=) | |
9 | g.128608950C>G | CA375068448 | SPTAN1 | c.4604C>G (p.Ser1535Cys) c.4568C>G (p.Ser1523Cys) c.4031C>G (p.Ser1344Cys) c.2191C>G c.178C>G n.5703C>G c.4508C>G (p.Ser1503Cys) n.12C>G n.318C>G c.4544C>G (p.Ser1515Cys) | dbSNP gnomAD v4 |
9 | g.128608950C>T | CA375068449 | SPTAN1 | c.4604C>T (p.Ser1535Phe) c.4568C>T (p.Ser1523Phe) c.4031C>T (p.Ser1344Phe) c.2191C>T c.178C>T n.5703C>T c.4508C>T (p.Ser1503Phe) n.12C>T n.318C>T c.4544C>T (p.Ser1515Phe) | COSMIC COSMIC |
9 | g.128608951T>A | CA467484928 | SPTAN1 | c.4605T>A (p.Ser1535=) c.4569T>A (p.Ser1523=) c.4032T>A (p.Ser1344=) c.2192T>A c.179T>A n.5704T>A c.4509T>A (p.Ser1503=) n.13T>A n.319T>A c.4545T>A (p.Ser1515=) | |
9 | g.128608951T>C | CA5265218 | SPTAN1 | c.4605T>C (p.Ser1535=) c.4569T>C (p.Ser1523=) c.4032T>C (p.Ser1344=) c.2192T>C c.179T>C n.5704T>C c.4509T>C (p.Ser1503=) n.13T>C n.319T>C c.4545T>C (p.Ser1515=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.128608951T>G | CA467484929 | SPTAN1 | c.4605T>G (p.Ser1535=) c.4569T>G (p.Ser1523=) c.4032T>G (p.Ser1344=) c.2192T>G c.179T>G n.5704T>G c.4509T>G (p.Ser1503=) n.13T>G n.319T>G c.4545T>G (p.Ser1515=) | |
9 | g.128608951T= | CA1880360407 | SPTAN1 | c.4605T= (p.Ser1535=) c.4569T= (p.Ser1523=) c.4032T= (p.Ser1344=) c.2192T= c.179T= n.5704T= c.4509T= (p.Ser1503=) n.13T= n.319T= c.4545T= (p.Ser1515=) | |
9 | g.128608952A>C | CA375068452 | SPTAN1 | c.4606A>C (p.Ser1536Arg) c.4570A>C (p.Ser1524Arg) c.4033A>C (p.Ser1345Arg) c.2193A>C c.180A>C n.5705A>C c.4510A>C (p.Ser1504Arg) n.14A>C n.320A>C c.4546A>C (p.Ser1516Arg) | |
9 | g.128608952A>G | CA375068454 | SPTAN1 | c.4606A>G (p.Ser1536Gly) c.4570A>G (p.Ser1524Gly) c.4033A>G (p.Ser1345Gly) c.2193A>G c.180A>G n.5705A>G c.4510A>G (p.Ser1504Gly) n.14A>G n.320A>G c.4546A>G (p.Ser1516Gly) | |
9 | g.128608952A>T | CA375068456 | SPTAN1 | c.4606A>T (p.Ser1536Cys) c.4570A>T (p.Ser1524Cys) c.4033A>T (p.Ser1345Cys) c.2193A>T c.180A>T n.5705A>T c.4510A>T (p.Ser1504Cys) n.14A>T n.320A>T c.4546A>T (p.Ser1516Cys) | |
9 | g.128608953G>A | CA375068462 | SPTAN1 | c.4607G>A (p.Ser1536Asn) c.4571G>A (p.Ser1524Asn) c.4034G>A (p.Ser1345Asn) c.2194G>A c.181G>A n.5706G>A c.4511G>A (p.Ser1504Asn) n.15G>A n.321G>A c.4547G>A (p.Ser1516Asn) | ClinVar |
9 | g.128608953G>C | CA375068460 | SPTAN1 | c.4607G>C (p.Ser1536Thr) c.4571G>C (p.Ser1524Thr) c.4034G>C (p.Ser1345Thr) c.2194G>C c.181G>C n.5706G>C c.4511G>C (p.Ser1504Thr) n.15G>C n.321G>C c.4547G>C (p.Ser1516Thr) | |
9 | g.128608953G>T | CA375068458 | SPTAN1 | c.4607G>T (p.Ser1536Ile) c.4571G>T (p.Ser1524Ile) c.4034G>T (p.Ser1345Ile) c.2194G>T c.181G>T n.5706G>T c.4511G>T (p.Ser1504Ile) n.15G>T n.321G>T c.4547G>T (p.Ser1516Ile) | |
9 | g.128608954C>A | CA375068464 | SPTAN1 | c.4608C>A (p.Ser1536Arg) c.4572C>A (p.Ser1524Arg) c.4035C>A (p.Ser1345Arg) c.2195C>A c.182C>A n.5707C>A c.4512C>A (p.Ser1504Arg) n.16C>A n.322C>A c.4548C>A (p.Ser1516Arg) | |
9 | g.128608954C= | CA1880360408 | SPTAN1 | c.4608C= (p.Ser1536=) c.4572C= (p.Ser1524=) c.4035C= (p.Ser1345=) c.2195C= c.182C= n.5707C= c.4512C= (p.Ser1504=) n.16C= n.322C= c.4548C= (p.Ser1516=) | |
9 | g.128608954C>G | CA375068467 | SPTAN1 | c.4608C>G (p.Ser1536Arg) c.4572C>G (p.Ser1524Arg) c.4035C>G (p.Ser1345Arg) c.2195C>G c.182C>G n.5707C>G c.4512C>G (p.Ser1504Arg) n.16C>G n.322C>G c.4548C>G (p.Ser1516Arg) | |
9 | g.128608954C>T | CA5265219 | SPTAN1 | c.4608C>T (p.Ser1536=) c.4572C>T (p.Ser1524=) c.4035C>T (p.Ser1345=) c.2195C>T c.182C>T n.5707C>T c.4512C>T (p.Ser1504=) n.16C>T n.322C>T c.4548C>T (p.Ser1516=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.128608955C>A | CA467484930 | SPTAN1 | c.4609C>A (p.Arg1537=) c.4573C>A (p.Arg1525=) c.4036C>A (p.Arg1346=) c.2196C>A c.183C>A n.5708C>A c.4513C>A (p.Arg1505=) n.17C>A n.323C>A c.4549C>A (p.Arg1517=) | gnomAD v4 |
9 | g.128608955C= | CA1880360409 | SPTAN1 | c.4609C= (p.Arg1537=) c.4573C= (p.Arg1525=) c.4036C= (p.Arg1346=) c.2196C= c.183C= n.5708C= c.4513C= (p.Arg1505=) n.17C= n.323C= c.4549C= (p.Arg1517=) | |
9 | g.128608955C>G | CA375068468 | SPTAN1 | c.4609C>G (p.Arg1537Gly) c.4573C>G (p.Arg1525Gly) c.4036C>G (p.Arg1346Gly) c.2196C>G c.183C>G n.5708C>G c.4513C>G (p.Arg1505Gly) n.17C>G n.323C>G c.4549C>G (p.Arg1517Gly) | |
9 | g.128608955C>T | CA200399217 | SPTAN1 | c.4609C>T (p.Arg1537Trp) c.4573C>T (p.Arg1525Trp) c.4036C>T (p.Arg1346Trp) c.2196C>T c.183C>T n.5708C>T c.4513C>T (p.Arg1505Trp) n.17C>T n.323C>T c.4549C>T (p.Arg1517Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.128608956G>A | CA5265220 | SPTAN1 | c.4610G>A (p.Arg1537Gln) c.4574G>A (p.Arg1525Gln) c.4037G>A (p.Arg1346Gln) c.2197G>A c.184G>A n.5709G>A c.4514G>A (p.Arg1505Gln) n.18G>A n.324G>A c.4550G>A (p.Arg1517Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.128608956G>C | CA375068473 | SPTAN1 | c.4610G>C (p.Arg1537Pro) c.4574G>C (p.Arg1525Pro) c.4037G>C (p.Arg1346Pro) c.2197G>C c.184G>C n.5709G>C c.4514G>C (p.Arg1505Pro) n.18G>C n.324G>C c.4550G>C (p.Arg1517Pro) | gnomAD v4 |
9 | g.128608956G= | CA1880360410 | SPTAN1 | c.4610G= (p.Arg1537=) c.4574G= (p.Arg1525=) c.4037G= (p.Arg1346=) c.2197G= c.184G= n.5709G= c.4514G= (p.Arg1505=) n.18G= n.324G= c.4550G= (p.Arg1517=) | |
9 | g.128608956G>T | CA375068472 | SPTAN1 | c.4610G>T (p.Arg1537Leu) c.4574G>T (p.Arg1525Leu) c.4037G>T (p.Arg1346Leu) c.2197G>T c.184G>T n.5709G>T c.4514G>T (p.Arg1505Leu) n.18G>T n.324G>T c.4550G>T (p.Arg1517Leu) | |
9 | g.128608957G>A | CA467484931 | SPTAN1 | c.4611G>A (p.Arg1537=) c.4575G>A (p.Arg1525=) c.4038G>A (p.Arg1346=) c.2198G>A c.185G>A n.5710G>A c.4515G>A (p.Arg1505=) n.19G>A n.325G>A c.4551G>A (p.Arg1517=) | |
9 | g.128608957G>C | CA467484932 | SPTAN1 | c.4611G>C (p.Arg1537=) c.4575G>C (p.Arg1525=) c.4038G>C (p.Arg1346=) c.2198G>C c.185G>C n.5710G>C c.4515G>C (p.Arg1505=) n.19G>C n.325G>C c.4551G>C (p.Arg1517=) | |
9 | g.128608957G>T | CA467484933 | SPTAN1 | c.4611G>T (p.Arg1537=) c.4575G>T (p.Arg1525=) c.4038G>T (p.Arg1346=) c.2198G>T c.185G>T n.5710G>T c.4515G>T (p.Arg1505=) n.19G>T n.325G>T c.4551G>T (p.Arg1517=) | |
9 | g.128608958C>A | CA375068476 | SPTAN1 | c.4612C>A (p.Arg1538Ser) c.4576C>A (p.Arg1526Ser) c.4039C>A (p.Arg1347Ser) c.2199C>A c.186C>A n.5711C>A c.4516C>A (p.Arg1506Ser) n.20C>A n.326C>A c.4552C>A (p.Arg1518Ser) | |
9 | g.128608958C= | CA1880360411 | SPTAN1 | c.4612C= (p.Arg1538=) c.4576C= (p.Arg1526=) c.4039C= (p.Arg1347=) c.2199C= c.186C= n.5711C= c.4516C= (p.Arg1506=) n.20C= n.326C= c.4552C= (p.Arg1518=) | |
9 | g.128608958C>G | CA375068478 | SPTAN1 | c.4612C>G (p.Arg1538Gly) c.4576C>G (p.Arg1526Gly) c.4039C>G (p.Arg1347Gly) c.2199C>G c.186C>G n.5711C>G c.4516C>G (p.Arg1506Gly) n.20C>G n.326C>G c.4552C>G (p.Arg1518Gly) | |
9 | g.128608958C>T | CA318707 | SPTAN1 | c.4612C>T (p.Arg1538Cys) c.4576C>T (p.Arg1526Cys) c.4039C>T (p.Arg1347Cys) c.2199C>T c.186C>T n.5711C>T c.4516C>T (p.Arg1506Cys) n.20C>T n.326C>T c.4552C>T (p.Arg1518Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.128608959G>A | CA200399220 | SPTAN1 | c.4613G>A (p.Arg1538His) c.4577G>A (p.Arg1526His) c.4040G>A (p.Arg1347His) c.2200G>A c.187G>A n.5712G>A c.4517G>A (p.Arg1506His) n.21G>A n.327G>A c.4553G>A (p.Arg1518His) | dbSNP gnomAD v4 COSMIC COSMIC |
9 | g.128608959G>C | CA375068481 | SPTAN1 | c.4613G>C (p.Arg1538Pro) c.4577G>C (p.Arg1526Pro) c.4040G>C (p.Arg1347Pro) c.2200G>C c.187G>C n.5712G>C c.4517G>C (p.Arg1506Pro) n.21G>C n.327G>C c.4553G>C (p.Arg1518Pro) | |
9 | g.128608959G= | CA1880360412 | SPTAN1 | c.4613G= (p.Arg1538=) c.4577G= (p.Arg1526=) c.4040G= (p.Arg1347=) c.2200G= c.187G= n.5712G= c.4517G= (p.Arg1506=) n.21G= n.327G= c.4553G= (p.Arg1518=) | |
9 | g.128608959G>T | CA375068483 | SPTAN1 | c.4613G>T (p.Arg1538Leu) c.4577G>T (p.Arg1526Leu) c.4040G>T (p.Arg1347Leu) c.2200G>T c.187G>T n.5712G>T c.4517G>T (p.Arg1506Leu) n.21G>T n.327G>T c.4553G>T (p.Arg1518Leu) | gnomAD v4 |
9 | g.128608960C>A | CA467484934 | SPTAN1 | c.4614C>A (p.Arg1538=) c.4578C>A (p.Arg1526=) c.4041C>A (p.Arg1347=) c.2201C>A c.188C>A n.5713C>A c.4518C>A (p.Arg1506=) n.22C>A n.328C>A c.4554C>A (p.Arg1518=) | |
9 | g.128608960C= | CA1880360413 | SPTAN1 | c.4614C= (p.Arg1538=) c.4578C= (p.Arg1526=) c.4041C= (p.Arg1347=) c.2201C= c.188C= n.5713C= c.4518C= (p.Arg1506=) n.22C= n.328C= c.4554C= (p.Arg1518=) | |
9 | g.128608960C>G | CA467484935 | SPTAN1 | c.4614C>G (p.Arg1538=) c.4578C>G (p.Arg1526=) c.4041C>G (p.Arg1347=) c.2201C>G c.188C>G n.5713C>G c.4518C>G (p.Arg1506=) n.22C>G n.328C>G c.4554C>G (p.Arg1518=) | |
9 | g.128608960C>T | CA467484936 | SPTAN1 | c.4614C>T (p.Arg1538=) c.4578C>T (p.Arg1526=) c.4041C>T (p.Arg1347=) c.2201C>T c.188C>T n.5713C>T c.4518C>T (p.Arg1506=) n.22C>T n.328C>T c.4554C>T (p.Arg1518=) | dbSNP |
9 | g.128608961A>C | CA375068485 | SPTAN1 | c.4615A>C (p.Asn1539His) c.4579A>C (p.Asn1527His) c.4042A>C (p.Asn1348His) c.2202A>C c.189A>C n.5714A>C c.4519A>C (p.Asn1507His) n.23A>C n.329A>C c.4555A>C (p.Asn1519His) | |
9 | g.128608961A>G | CA375068487 | SPTAN1 | c.4615A>G (p.Asn1539Asp) c.4579A>G (p.Asn1527Asp) c.4042A>G (p.Asn1348Asp) c.2202A>G c.189A>G n.5714A>G c.4519A>G (p.Asn1507Asp) n.23A>G n.329A>G c.4555A>G (p.Asn1519Asp) | |
9 | g.128608961A>T | CA375068488 | SPTAN1 | c.4615A>T (p.Asn1539Tyr) c.4579A>T (p.Asn1527Tyr) c.4042A>T (p.Asn1348Tyr) c.2202A>T c.189A>T n.5714A>T c.4519A>T (p.Asn1507Tyr) n.23A>T n.329A>T c.4555A>T (p.Asn1519Tyr) | |
9 | g.128608962A= | CA1880360414 | SPTAN1 | c.4616A= (p.Asn1539=) c.4580A= (p.Asn1527=) c.4043A= (p.Asn1348=) c.2203A= c.190A= n.5715A= c.4520A= (p.Asn1507=) n.24A= n.330A= c.4556A= (p.Asn1519=) | |
9 | g.128608962A>C | CA375068489 | SPTAN1 | c.4616A>C (p.Asn1539Thr) c.4580A>C (p.Asn1527Thr) c.4043A>C (p.Asn1348Thr) c.2203A>C c.190A>C n.5715A>C c.4520A>C (p.Asn1507Thr) n.24A>C n.330A>C c.4556A>C (p.Asn1519Thr) | |
9 | g.128608962A>G | CA244765 | SPTAN1 | c.4616A>G (p.Asn1539Ser) c.4580A>G (p.Asn1527Ser) c.4043A>G (p.Asn1348Ser) c.2203A>G c.190A>G n.5715A>G c.4520A>G (p.Asn1507Ser) n.24A>G n.330A>G c.4556A>G (p.Asn1519Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.128608962A>T | CA375068490 | SPTAN1 | c.4616A>T (p.Asn1539Ile) c.4580A>T (p.Asn1527Ile) c.4043A>T (p.Asn1348Ile) c.2203A>T c.190A>T n.5715A>T c.4520A>T (p.Asn1507Ile) n.24A>T n.330A>T c.4556A>T (p.Asn1519Ile) | dbSNP gnomAD v3 gnomAD v4 |