| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.64772767C>A | CA390041077 | SPTB | c.5366G>T (p.Arg1789Leu) c.1361G>T (p.Arg454Leu) | |
| 14 | g.64772767C= | CA2142804031 | SPTB | c.5366G= (p.Arg1789=) c.1361G= (p.Arg454=) | |
| 14 | g.64772767C>G | CA390041078 | SPTB | c.5366G>C (p.Arg1789Pro) c.1361G>C (p.Arg454Pro) | |
| 14 | g.64772767C>T | CA262689089 | SPTB | c.5366G>A (p.Arg1789His) c.1361G>A (p.Arg454His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64772767_64772768delinsCG | CA2142804032 | SPTB | c.5365_5366delinsCG (p.Arg1789=) c.1360_1361delinsCG (p.Arg454=) | |
| 14 | g.64772768del | CA2142804034 | SPTB | c.5365del (p.Arg1789AlafsTer?) c.1360del (p.Arg454AlafsTer?) | dbSNP |
| 14 | g.64772768G>A | CA7229989 | SPTB | c.5365C>T (p.Arg1789Cys) c.1360C>T (p.Arg454Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64772768G>C | CA390041079 | SPTB | c.5365C>G (p.Arg1789Gly) c.1360C>G (p.Arg454Gly) | |
| 14 | g.64772768G= | CA2142804035 | SPTB | c.5365C= (p.Arg1789=) c.1360C= (p.Arg454=) | |
| 14 | g.64772768G>T | CA390041080 | SPTB | c.5365C>A (p.Arg1789Ser) c.1360C>A (p.Arg454Ser) | |
| 14 | g.64772769C>A | CA486967804 | SPTB | c.5364G>T (p.Thr1788=) c.1359G>T (p.Thr453=) | dbSNP |
| 14 | g.64772769C= | CA2142804038 | SPTB | c.5364G= (p.Thr1788=) c.1359G= (p.Thr453=) | |
| 14 | g.64772769C>G | CA486967805 | SPTB | c.5364G>C (p.Thr1788=) c.1359G>C (p.Thr453=) | |
| 14 | g.64772769C>T | CA7229990 | SPTB | c.5364G>A (p.Thr1788=) c.1359G>A (p.Thr453=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64772770G>A | CA390041081 | SPTB | c.5363C>T (p.Thr1788Met) c.1358C>T (p.Thr453Met) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 14 | g.64772770G>C | CA390041082 | SPTB | c.5363C>G (p.Thr1788Arg) c.1358C>G (p.Thr453Arg) | gnomAD v4 |
| 14 | g.64772770G= | CA2142804041 | SPTB | c.5363C= (p.Thr1788=) c.1358C= (p.Thr453=) | |
| 14 | g.64772770G>T | CA390041083 | SPTB | c.5363C>A (p.Thr1788Lys) c.1358C>A (p.Thr453Lys) | |
| 14 | g.64772772_64772773del | CA2580613700 | SPTB | c.5362_5363del (p.Thr1788AlafsTer10) c.1357_1358del (p.Thr453AlafsTer10) | ClinVar |
| 14 | g.64772771T>A | CA390041085 | SPTB | c.5362A>T (p.Thr1788Ser) c.1357A>T (p.Thr453Ser) | |
| 14 | g.64772771T>C | CA390041086 | SPTB | c.5362A>G (p.Thr1788Ala) c.1357A>G (p.Thr453Ala) | dbSNP |
| 14 | g.64772771T>G | CA390041084 | SPTB | c.5362A>C (p.Thr1788Pro) c.1357A>C (p.Thr453Pro) | |
| 14 | g.64772771T= | CA2142804043 | SPTB | c.5362A= (p.Thr1788=) c.1357A= (p.Thr453=) | |
| 14 | g.64772771dup | CA2695219408 | SPTB | c.5362dup (p.Thr1788AsnfsTer11) c.1357dup (p.Thr453AsnfsTer11) | |
| 14 | g.64772772G>A | CA486967809 | SPTB | c.5361C>T (p.Asp1787=) c.1356C>T (p.Asp452=) | |
| 14 | g.64772772G>C | CA390041087 | SPTB | c.5361C>G (p.Asp1787Glu) c.1356C>G (p.Asp452Glu) | |
| 14 | g.64772772G>T | CA390041088 | SPTB | c.5361C>A (p.Asp1787Glu) c.1356C>A (p.Asp452Glu) | |
| 14 | g.64772773T>A | CA390041089 | SPTB | c.5360A>T (p.Asp1787Val) c.1355A>T (p.Asp452Val) | |
| 14 | g.64772773T>C | CA390041090 | SPTB | c.5360A>G (p.Asp1787Gly) c.1355A>G (p.Asp452Gly) | |
| 14 | g.64772773T>G | CA390041091 | SPTB | c.5360A>C (p.Asp1787Ala) c.1355A>C (p.Asp452Ala) | |
| 14 | g.64772774C>A | CA390041092 | SPTB | c.5359G>T (p.Asp1787Tyr) c.1354G>T (p.Asp452Tyr) | |
| 14 | g.64772774C>G | CA390041093 | SPTB | c.5359G>C (p.Asp1787His) c.1354G>C (p.Asp452His) | |
| 14 | g.64772774C>T | CA390041094 | SPTB | c.5359G>A (p.Asp1787Asn) c.1354G>A (p.Asp452Asn) | |
| 14 | g.64772775A>C | CA390041095 | SPTB | c.5358T>G (p.Ile1786Met) c.1353T>G (p.Ile451Met) | |
| 14 | g.64772775A>G | CA486967814 | SPTB | c.5358T>C (p.Ile1786=) c.1353T>C (p.Ile451=) | |
| 14 | g.64772775A>T | CA486967816 | SPTB | c.5358T>A (p.Ile1786=) c.1353T>A (p.Ile451=) | |
| 14 | g.64772776A= | CA2142804048 | SPTB | c.5357T= (p.Ile1786=) c.1352T= (p.Ile451=) | |
| 14 | g.64772776A>C | CA390041096 | SPTB | c.5357T>G (p.Ile1786Ser) c.1352T>G (p.Ile451Ser) | |
| 14 | g.64772776A>G | CA262689128 | SPTB | c.5357T>C (p.Ile1786Thr) c.1352T>C (p.Ile451Thr) | dbSNP gnomAD v4 |
| 14 | g.64772776A>T | CA390041097 | SPTB | c.5357T>A (p.Ile1786Asn) c.1352T>A (p.Ile451Asn) | |
| 14 | g.64772777T>A | CA390041100 | SPTB | c.5356A>T (p.Ile1786Phe) c.1351A>T (p.Ile451Phe) | |
| 14 | g.64772777T>C | CA390041098 | SPTB | c.5356A>G (p.Ile1786Val) c.1351A>G (p.Ile451Val) | |
| 14 | g.64772777T>G | CA390041099 | SPTB | c.5356A>C (p.Ile1786Leu) c.1351A>C (p.Ile451Leu) | |
| 14 | g.64772778G>A | CA486967822 | SPTB | c.5355C>T (p.Leu1785=) c.1350C>T (p.Leu450=) | |
| 14 | g.64772778G>C | CA486967824 | SPTB | c.5355C>G (p.Leu1785=) c.1350C>G (p.Leu450=) | |
| 14 | g.64772778G>T | CA486967823 | SPTB | c.5355C>A (p.Leu1785=) c.1350C>A (p.Leu450=) | |
| 14 | g.64772779A>C | CA390041101 | SPTB | c.5354T>G (p.Leu1785Arg) c.1349T>G (p.Leu450Arg) | |
| 14 | g.64772779A>G | CA390041102 | SPTB | c.5354T>C (p.Leu1785Pro) c.1349T>C (p.Leu450Pro) | |
| 14 | g.64772779A>T | CA390041103 | SPTB | c.5354T>A (p.Leu1785His) c.1349T>A (p.Leu450His) | |
| 14 | g.64772780G>A | CA390041104 | SPTB | c.5353C>T (p.Leu1785Phe) c.1348C>T (p.Leu450Phe) | dbSNP |