| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.64767637G>A | CA614437757 | SPTB | c.6219+26C>T (n.6219+26C>T) n.551+26C>T c.2214+26C>T (n.2214+26C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.64767637G= | CA2142797503 | SPTB | c.6219+26C= (n.6219+26C=) n.551+26C= c.2214+26C= (n.2214+26C=) | |
| 14 | g.64767637G>T | CA2801899220 | SPTB | c.6219+26C>A (n.6219+26C>A) n.551+26C>A c.2214+26C>A (n.2214+26C>A) | |
| 14 | g.64767638C>A | CA614437759 | SPTB | c.6219+25G>T (n.6219+25G>T) n.551+25G>T c.2214+25G>T (n.2214+25G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.64767638C= | CA2142797504 | SPTB | c.6219+25G= (n.6219+25G=) n.551+25G= c.2214+25G= (n.2214+25G=) | |
| 14 | g.64767638C>T | CA2625262718 | SPTB | c.6219+25G>A (n.6219+25G>A) n.551+25G>A c.2214+25G>A (n.2214+25G>A) | gnomAD v4 |
| 14 | g.64767641C>A | CA7229736 | SPTB | c.6219+22G>T (n.6219+22G>T) n.551+22G>T c.2214+22G>T (n.2214+22G>T) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 14 | g.64767641C= | CA2142797508 | SPTB | c.6219+22G= (n.6219+22G=) n.551+22G= c.2214+22G= (n.2214+22G=) | |
| 14 | g.64767641C>G | CA7229737 | SPTB | c.6219+22G>C (n.6219+22G>C) n.551+22G>C c.2214+22G>C (n.2214+22G>C) | dbSNP ExAC gnomAD v2 |
| 14 | g.64767641C>T | CA2625262725 | SPTB | c.6219+22G>A (n.6219+22G>A) n.551+22G>A c.2214+22G>A (n.2214+22G>A) | gnomAD v4 |
| 14 | g.64767643del | CA2801899221 | SPTB | c.6219+22del (n.6219+22del) n.551+22del c.2214+22del (n.2214+22del) | |
| 14 | g.64767643C= | CA2142797511 | SPTB | c.6219+20G= (n.6219+20G=) n.551+20G= c.2214+20G= (n.2214+20G=) | |
| 14 | g.64767643C>T | CA262682624 | SPTB | c.6219+20G>A (n.6219+20G>A) n.551+20G>A c.2214+20G>A (n.2214+20G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64767645G>T | CA2575565531 | SPTB | c.6219+18C>A (n.6219+18C>A) n.551+18C>A c.2214+18C>A (n.2214+18C>A) | |
| 14 | g.64767646C= | CA2142797513 | SPTB | c.6219+17G= (n.6219+17G=) n.551+17G= c.2214+17G= (n.2214+17G=) | |
| 14 | g.64767646C>G | CA7229738 | SPTB | c.6219+17G>C (n.6219+17G>C) n.551+17G>C c.2214+17G>C (n.2214+17G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.64767647A= | CA2142797517 | SPTB | c.6219+16T= (n.6219+16T=) n.551+16T= c.2214+16T= (n.2214+16T=) | |
| 14 | g.64767647A>G | CA707745193 | SPTB | c.6219+16T>C (n.6219+16T>C) n.551+16T>C c.2214+16T>C (n.2214+16T>C) | dbSNP |
| 14 | g.64767648C= | CA2142797519 | SPTB | c.6219+15G= (n.6219+15G=) n.551+15G= c.2214+15G= (n.2214+15G=) | |
| 14 | g.64767648C>G | CA614736379 | SPTB | c.6219+15G>C (n.6219+15G>C) n.551+15G>C c.2214+15G>C (n.2214+15G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.64767648C>T | CA7229739 | SPTB | c.6219+15G>A (n.6219+15G>A) n.551+15G>A c.2214+15G>A (n.2214+15G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64767650G>A | CA2625262736 | SPTB | c.6219+13C>T (n.6219+13C>T) n.551+13C>T c.2214+13C>T (n.2214+13C>T) | gnomAD v4 |
| 14 | g.64767651T>G | CA2801899222 | SPTB | c.6219+12A>C (n.6219+12A>C) n.551+12A>C c.2214+12A>C (n.2214+12A>C) | |
| 14 | g.64767652T>C | CA2625262738 | SPTB | c.6219+11A>G (n.6219+11A>G) n.551+11A>G c.2214+11A>G (n.2214+11A>G) | gnomAD v4 |
| 14 | g.64767653C= | CA2142797522 | SPTB | c.6219+10G= (n.6219+10G=) n.551+10G= c.2214+10G= (n.2214+10G=) | |
| 14 | g.64767653C>G | CA2625262740 | SPTB | c.6219+10G>C (n.6219+10G>C) n.551+10G>C c.2214+10G>C (n.2214+10G>C) | gnomAD v4 |
| 14 | g.64767653C>T | CA964045692 | SPTB | c.6219+10G>A (n.6219+10G>A) n.551+10G>A c.2214+10G>A (n.2214+10G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.64767654C= | CA2142797524 | SPTB | c.6219+9G= (n.6219+9G=) n.551+9G= c.2214+9G= (n.2214+9G=) | |
| 14 | g.64767654C>G | CA2142797523 | SPTB | c.6219+9G>C (n.6219+9G>C) n.551+9G>C c.2214+9G>C (n.2214+9G>C) | dbSNP gnomAD v4 |
| 14 | g.64767657G>A | CA2625262744 | SPTB | c.6219+6C>T (n.6219+6C>T) n.551+6C>T c.2214+6C>T (n.2214+6C>T) | gnomAD v4 |
| 14 | g.64767657G>C | CA707745197 | SPTB | c.6219+6C>G (n.6219+6C>G) n.551+6C>G c.2214+6C>G (n.2214+6C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.64767657G= | CA2142797526 | SPTB | c.6219+6C= (n.6219+6C=) n.551+6C= c.2214+6C= (n.2214+6C=) | |
| 14 | g.64767659T>C | CA2695219390 | SPTB | c.6219+4A>G (n.6219+4A>G) n.551+4A>G c.2214+4A>G (n.2214+4A>G) | |
| 14 | g.64767660C>T | CA2625262747 | SPTB | c.6219+3G>A (n.6219+3G>A) n.551+3G>A c.2214+3G>A (n.2214+3G>A) | gnomAD v4 |
| 14 | g.64767661A>C | CA390039154 | SPTB | c.6219+2T>G (n.6219+2T>G) n.551+2T>G c.2214+2T>G (n.2214+2T>G) | |
| 14 | g.64767661A>G | CA390039155 | SPTB | c.6219+2T>C (n.6219+2T>C) n.551+2T>C c.2214+2T>C (n.2214+2T>C) | |
| 14 | g.64767661A>T | CA390039156 | SPTB | c.6219+2T>A (n.6219+2T>A) n.551+2T>A c.2214+2T>A (n.2214+2T>A) | |
| 14 | g.64767662C>A | CA390039157 | SPTB | c.6219+1G>T (n.6219+1G>T) n.551+1G>T c.2214+1G>T (n.2214+1G>T) | |
| 14 | g.64767662C>G | CA390039158 | SPTB | c.6219+1G>C (n.6219+1G>C) n.551+1G>C c.2214+1G>C (n.2214+1G>C) | |
| 14 | g.64767662C>T | CA390039159 | SPTB | c.6219+1G>A (n.6219+1G>A) n.551+1G>A c.2214+1G>A (n.2214+1G>A) | |
| 14 | g.64767663C>A | CA486735052 | SPTB | c.6219G>T (p.Thr2073=) n.551G>T c.2214G>T (p.Thr738=) | |
| 14 | g.64767663C= | CA2142797528 | SPTB | c.6219G= (p.Thr2073=) n.551G= c.2214G= (p.Thr738=) | |
| 14 | g.64767663C>G | CA486735053 | SPTB | c.6219G>C (p.Thr2073=) n.551G>C c.2214G>C (p.Thr738=) | |
| 14 | g.64767663C>T | CA7229740 | SPTB | c.6219G>A (p.Thr2073=) n.551G>A c.2214G>A (p.Thr738=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64767664G>A | CA7229741 | SPTB | c.6218C>T (p.Thr2073Met) n.550C>T c.2213C>T (p.Thr738Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64767664G>C | CA390039161 | SPTB | c.6218C>G (p.Thr2073Arg) n.550C>G c.2213C>G (p.Thr738Arg) | |
| 14 | g.64767664G= | CA2142797534 | SPTB | c.6218C= (p.Thr2073=) n.550C= c.2213C= (p.Thr738=) | |
| 14 | g.64767664G>T | CA390039160 | SPTB | c.6218C>A (p.Thr2073Lys) n.550C>A c.2213C>A (p.Thr738Lys) | |
| 14 | g.64767665T>A | CA390039162 | SPTB | c.6217A>T (p.Thr2073Ser) n.549A>T c.2212A>T (p.Thr738Ser) | |
| 14 | g.64767665T>C | CA390039163 | SPTB | c.6217A>G (p.Thr2073Ala) n.549A>G c.2212A>G (p.Thr738Ala) | |
| 14 | g.64767665T>G | CA390039164 | SPTB | c.6217A>C (p.Thr2073Pro) n.549A>C c.2212A>C (p.Thr738Pro) | |
| 14 | g.64767666G>A | CA486735054 | SPTB | c.6216C>T (p.Thr2072=) n.548C>T c.2211C>T (p.Thr737=) | |
| 14 | g.64767666G>C | CA486735055 | SPTB | c.6216C>G (p.Thr2072=) n.548C>G c.2211C>G (p.Thr737=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.64767666G= | CA2142797543 | SPTB | c.6216C= (p.Thr2072=) n.548C= c.2211C= (p.Thr737=) | |
| 14 | g.64767666G>T | CA486735056 | SPTB | c.6216C>A (p.Thr2072=) n.548C>A c.2211C>A (p.Thr737=) | |
| 14 | g.64767667G>A | CA390039165 | SPTB | c.6215C>T (p.Thr2072Ile) n.547C>T c.2210C>T (p.Thr737Ile) | gnomAD v4 |
| 14 | g.64767667G>C | CA390039166 | SPTB | c.6215C>G (p.Thr2072Ser) n.547C>G c.2210C>G (p.Thr737Ser) | |
| 14 | g.64767667G>T | CA390039167 | SPTB | c.6215C>A (p.Thr2072Asn) n.547C>A c.2210C>A (p.Thr737Asn) | |
| 14 | g.64767668T>A | CA390039168 | SPTB | c.6214A>T (p.Thr2072Ser) n.546A>T c.2209A>T (p.Thr737Ser) | |
| 14 | g.64767668T>C | CA390039169 | SPTB | c.6214A>G (p.Thr2072Ala) n.546A>G c.2209A>G (p.Thr737Ala) | |
| 14 | g.64767668T>G | CA390039170 | SPTB | c.6214A>C (p.Thr2072Pro) n.546A>C c.2209A>C (p.Thr737Pro) | |
| 14 | g.64767669G>A | CA486735057 | SPTB | c.6213C>T (p.Pro2071=) n.545C>T c.2208C>T (p.Pro736=) | |
| 14 | g.64767669G>C | CA486735058 | SPTB | c.6213C>G (p.Pro2071=) n.545C>G c.2208C>G (p.Pro736=) | |
| 14 | g.64767669G>T | CA486735059 | SPTB | c.6213C>A (p.Pro2071=) n.545C>A c.2208C>A (p.Pro736=) | |
| 14 | g.64767670G>A | CA390039171 | SPTB | c.6212C>T (p.Pro2071Leu) n.544C>T c.2207C>T (p.Pro736Leu) | gnomAD v4 |
| 14 | g.64767670G>C | CA390039172 | SPTB | c.6212C>G (p.Pro2071Arg) n.544C>G c.2207C>G (p.Pro736Arg) | |
| 14 | g.64767670G>T | CA390039173 | SPTB | c.6212C>A (p.Pro2071His) n.544C>A c.2207C>A (p.Pro736His) | |
| 14 | g.64767671G>A | CA390039175 | SPTB | c.6211C>T (p.Pro2071Ser) n.543C>T c.2206C>T (p.Pro736Ser) | dbSNP COSMIC COSMIC |
| 14 | g.64767671G>C | CA390039176 | SPTB | c.6211C>G (p.Pro2071Ala) n.543C>G c.2206C>G (p.Pro736Ala) | |
| 14 | g.64767671G= | CA2142797548 | SPTB | c.6211C= (p.Pro2071=) n.543C= c.2206C= (p.Pro736=) | |
| 14 | g.64767671G>T | CA390039174 | SPTB | c.6211C>A (p.Pro2071Thr) n.543C>A c.2206C>A (p.Pro736Thr) | |
| 14 | g.64767672C>A | CA390039177 | SPTB | c.6210G>T (p.Lys2070Asn) n.542G>T c.2205G>T (p.Lys735Asn) | |
| 14 | g.64767672C>G | CA390039178 | SPTB | c.6210G>C (p.Lys2070Asn) n.542G>C c.2205G>C (p.Lys735Asn) | |
| 14 | g.64767672C>T | CA486735060 | SPTB | c.6210G>A (p.Lys2070=) n.542G>A c.2205G>A (p.Lys735=) | |
| 14 | g.64767673T>A | CA390039179 | SPTB | c.6209A>T (p.Lys2070Met) n.541A>T c.2204A>T (p.Lys735Met) | |
| 14 | g.64767673T>C | CA390039180 | SPTB | c.6209A>G (p.Lys2070Arg) n.541A>G c.2204A>G (p.Lys735Arg) | |
| 14 | g.64767673T>G | CA390039181 | SPTB | c.6209A>C (p.Lys2070Thr) n.541A>C c.2204A>C (p.Lys735Thr) | |
| 14 | g.64767674T>A | CA390039184 | SPTB | c.6208A>T (p.Lys2070Ter) n.540A>T c.2203A>T (p.Lys735Ter) | |
| 14 | g.64767674T>C | CA390039183 | SPTB | c.6208A>G (p.Lys2070Glu) n.540A>G c.2203A>G (p.Lys735Glu) | COSMIC |
| 14 | g.64767674T>G | CA390039182 | SPTB | c.6208A>C (p.Lys2070Gln) n.540A>C c.2203A>C (p.Lys735Gln) | |
| 14 | g.64767675C>A | CA390039185 | SPTB | c.6207G>T (p.Glu2069Asp) n.539G>T c.2202G>T (p.Glu734Asp) | |
| 14 | g.64767675C= | CA2142797550 | SPTB | c.6207G= (p.Glu2069=) n.539G= c.2202G= (p.Glu734=) | |
| 14 | g.64767675C>G | CA390039186 | SPTB | c.6207G>C (p.Glu2069Asp) n.539G>C c.2202G>C (p.Glu734Asp) | |
| 14 | g.64767675C>T | CA7229742 | SPTB | c.6207G>A (p.Glu2069=) n.539G>A c.2202G>A (p.Glu734=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64767676T>A | CA390039187 | SPTB | c.6206A>T (p.Glu2069Val) n.538A>T c.2201A>T (p.Glu734Val) | |
| 14 | g.64767676T>C | CA390039188 | SPTB | c.6206A>G (p.Glu2069Gly) n.538A>G c.2201A>G (p.Glu734Gly) | |
| 14 | g.64767676T>G | CA390039189 | SPTB | c.6206A>C (p.Glu2069Ala) n.538A>C c.2201A>C (p.Glu734Ala) | |
| 14 | g.64767677C>A | CA390039192 | SPTB | c.6205G>T (p.Glu2069Ter) n.537G>T c.2200G>T (p.Glu734Ter) | COSMIC COSMIC |
| 14 | g.64767677C= | CA2142797552 | SPTB | c.6205G= (p.Glu2069=) n.537G= c.2200G= (p.Glu734=) | |
| 14 | g.64767677C>G | CA390039190 | SPTB | c.6205G>C (p.Glu2069Gln) n.537G>C c.2200G>C (p.Glu734Gln) | gnomAD v4 |
| 14 | g.64767677C>T | CA390039191 | SPTB | c.6205G>A (p.Glu2069Lys) n.537G>A c.2200G>A (p.Glu734Lys) | dbSNP |
| 14 | g.64767678C>A | CA486735063 | SPTB | c.6204G>T (p.Leu2068=) n.536G>T c.2199G>T (p.Leu733=) | |
| 14 | g.64767678C>G | CA486735061 | SPTB | c.6204G>C (p.Leu2068=) n.536G>C c.2199G>C (p.Leu733=) | |
| 14 | g.64767678C>T | CA486735062 | SPTB | c.6204G>A (p.Leu2068=) n.536G>A c.2199G>A (p.Leu733=) | |
| 14 | g.64767679A>C | CA390039193 | SPTB | c.6203T>G (p.Leu2068Arg) n.535T>G c.2198T>G (p.Leu733Arg) | |
| 14 | g.64767679A>G | CA390039195 | SPTB | c.6203T>C (p.Leu2068Pro) n.535T>C c.2198T>C (p.Leu733Pro) | gnomAD v4 |
| 14 | g.64767679A>T | CA390039194 | SPTB | c.6203T>A (p.Leu2068Gln) n.535T>A c.2198T>A (p.Leu733Gln) | |
| 14 | g.64767680G>A | CA486735064 | SPTB | c.6202C>T (p.Leu2068=) n.534C>T c.2197C>T (p.Leu733=) | gnomAD v4 |
| 14 | g.64767680G>C | CA390039196 | SPTB | c.6202C>G (p.Leu2068Val) n.534C>G c.2197C>G (p.Leu733Val) | |
| 14 | g.64767680G>T | CA390039197 | SPTB | c.6202C>A (p.Leu2068Met) n.534C>A c.2197C>A (p.Leu733Met) | |
| 14 | g.64767681G>A | CA486735065 | SPTB | c.6201C>T (p.Ala2067=) n.533C>T c.2196C>T (p.Ala732=) | gnomAD v4 |
| 14 | g.64767681G>C | CA486735067 | SPTB | c.6201C>G (p.Ala2067=) n.533C>G c.2196C>G (p.Ala732=) | |
| 14 | g.64767681G>T | CA486735066 | SPTB | c.6201C>A (p.Ala2067=) n.533C>A c.2196C>A (p.Ala732=) | |
| 14 | g.64767682G>A | CA390039198 | SPTB | c.6200C>T (p.Ala2067Val) n.532C>T c.2195C>T (p.Ala732Val) | |
| 14 | g.64767682G>C | CA390039199 | SPTB | c.6200C>G (p.Ala2067Gly) n.532C>G c.2195C>G (p.Ala732Gly) | |
| 14 | g.64767682G>T | CA390039200 | SPTB | c.6200C>A (p.Ala2067Asp) n.532C>A c.2195C>A (p.Ala732Asp) | |
| 14 | g.64767683C>A | CA390039201 | SPTB | c.6199G>T (p.Ala2067Ser) n.531G>T c.2194G>T (p.Ala732Ser) | |
| 14 | g.64767683C= | CA2142797555 | SPTB | c.6199G= (p.Ala2067=) n.531G= c.2194G= (p.Ala732=) | |
| 14 | g.64767683C>G | CA390039202 | SPTB | c.6199G>C (p.Ala2067Pro) n.531G>C c.2194G>C (p.Ala732Pro) | |
| 14 | g.64767683C>T | CA390039203 | SPTB | c.6199G>A (p.Ala2067Thr) n.531G>A c.2194G>A (p.Ala732Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.64767684A>C | CA486735068 | SPTB | c.6198T>G (p.Ala2066=) n.530T>G c.2193T>G (p.Ala731=) | |
| 14 | g.64767684A>G | CA486735069 | SPTB | c.6198T>C (p.Ala2066=) n.530T>C c.2193T>C (p.Ala731=) | |
| 14 | g.64767684A>T | CA486735070 | SPTB | c.6198T>A (p.Ala2066=) n.530T>A c.2193T>A (p.Ala731=) | |
| 14 | g.64767685G>A | CA390039204 | SPTB | c.6197C>T (p.Ala2066Val) n.529C>T c.2192C>T (p.Ala731Val) | gnomAD v4 |
| 14 | g.64767685G>C | CA390039205 | SPTB | c.6197C>G (p.Ala2066Gly) n.529C>G c.2192C>G (p.Ala731Gly) | |
| 14 | g.64767685G>T | CA390039206 | SPTB | c.6197C>A (p.Ala2066Asp) n.529C>A c.2192C>A (p.Ala731Asp) | |
| 14 | g.64767686C>A | CA390039207 | SPTB | c.6196G>T (p.Ala2066Ser) n.528G>T c.2191G>T (p.Ala731Ser) | |
| 14 | g.64767686C= | CA2142797556 | SPTB | c.6196G= (p.Ala2066=) n.528G= c.2191G= (p.Ala731=) | |
| 14 | g.64767686C>G | CA390039208 | SPTB | c.6196G>C (p.Ala2066Pro) n.528G>C c.2191G>C (p.Ala731Pro) | |
| 14 | g.64767686C>T | CA390039209 | SPTB | c.6196G>A (p.Ala2066Thr) n.528G>A c.2191G>A (p.Ala731Thr) | |
| 14 | g.64767687A>C | CA390039211 | SPTB | c.6195T>G (p.Phe2065Leu) n.527T>G c.2190T>G (p.Phe730Leu) | |
| 14 | g.64767687A>G | CA486735071 | SPTB | c.6195T>C (p.Phe2065=) n.527T>C c.2190T>C (p.Phe730=) | |
| 14 | g.64767687A>T | CA390039210 | SPTB | c.6195T>A (p.Phe2065Leu) n.527T>A c.2190T>A (p.Phe730Leu) | |
| 14 | g.64767688_64767689dup | CA658824353 | SPTB | c.6194_6195dup (p.Ala2066LeufsTer12) c.6194_6195dup (p.Ala2066LeufsTer?) n.526_527dup c.2189_2190dup (p.Ala731LeufsTer12) | ClinVar dbSNP |
| 14 | g.64767688A>C | CA390039212 | SPTB | c.6194T>G (p.Phe2065Cys) n.526T>G c.2189T>G (p.Phe730Cys) | |
| 14 | g.64767688A>G | CA390039213 | SPTB | c.6194T>C (p.Phe2065Ser) n.526T>C c.2189T>C (p.Phe730Ser) | |
| 14 | g.64767688A>T | CA390039214 | SPTB | c.6194T>A (p.Phe2065Tyr) n.526T>A c.2189T>A (p.Phe730Tyr) | |
| 14 | g.64767689A= | CA2142797564 | SPTB | c.6193T= (p.Phe2065=) n.525T= c.2188T= (p.Phe730=) | |
| 14 | g.64767689A>C | CA7229743 | SPTB | c.6193T>G (p.Phe2065Val) n.525T>G c.2188T>G (p.Phe730Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64767689A>G | CA390039215 | SPTB | c.6193T>C (p.Phe2065Leu) n.525T>C c.2188T>C (p.Phe730Leu) | gnomAD v4 |
| 14 | g.64767689A>T | CA390039216 | SPTB | c.6193T>A (p.Phe2065Ile) n.525T>A c.2188T>A (p.Phe730Ile) | |
| 14 | g.64767690G>A | CA486735072 | SPTB | c.6192C>T (p.Arg2064=) n.524C>T c.2187C>T (p.Arg729=) | dbSNP gnomAD v2 |
| 14 | g.64767690G>C | CA486735073 | SPTB | c.6192C>G (p.Arg2064=) n.524C>G c.2187C>G (p.Arg729=) | |
| 14 | g.64767690G= | CA2142797568 | SPTB | c.6192C= (p.Arg2064=) n.524C= c.2187C= (p.Arg729=) | |
| 14 | g.64767690G>T | CA486735074 | SPTB | c.6192C>A (p.Arg2064=) n.524C>A c.2187C>A (p.Arg729=) | |
| 14 | g.64767691C>A | CA390039217 | SPTB | c.6191G>T (p.Arg2064Leu) n.523G>T c.2186G>T (p.Arg729Leu) | |
| 14 | g.64767691C= | CA2142797572 | SPTB | c.6191G= (p.Arg2064=) n.523G= c.2186G= (p.Arg729=) | |
| 14 | g.64767691C>G | CA122745 | SPTB | c.6191G>C (p.Arg2064Pro) n.523G>C c.2186G>C (p.Arg729Pro) | ClinVar dbSNP |
| 14 | g.64767691C>T | CA7229744 | SPTB | c.6191G>A (p.Arg2064His) n.523G>A c.2186G>A (p.Arg729His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64767692G>A | CA7229745 | SPTB | c.6190C>T (p.Arg2064Cys) n.522C>T c.2185C>T (p.Arg729Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 14 | g.64767692G>C | CA7229746 | SPTB | c.6190C>G (p.Arg2064Gly) n.522C>G c.2185C>G (p.Arg729Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.64767692G= | CA2142797575 | SPTB | c.6190C= (p.Arg2064=) n.522C= c.2185C= (p.Arg729=) | |
| 14 | g.64767692G>T | CA390039218 | SPTB | c.6190C>A (p.Arg2064Ser) n.522C>A c.2185C>A (p.Arg729Ser) | |
| 14 | g.64767693C>A | CA390039219 | SPTB | c.6189G>T (p.Glu2063Asp) n.521G>T c.2184G>T (p.Glu728Asp) | |
| 14 | g.64767693C= | CA2142797578 | SPTB | c.6189G= (p.Glu2063=) n.521G= c.2184G= (p.Glu728=) | |
| 14 | g.64767693C>G | CA390039220 | SPTB | c.6189G>C (p.Glu2063Asp) n.521G>C c.2184G>C (p.Glu728Asp) | |
| 14 | g.64767693C>T | CA262682653 | SPTB | c.6189G>A (p.Glu2063=) n.521G>A c.2184G>A (p.Glu728=) | dbSNP |
| 14 | g.64767695_64767696del | CA2697553936 | SPTB | c.6188_6189del (p.Glu2063AlafsTer12) c.6188_6189del (p.Glu2063AlafsTer?) n.520_521del c.2183_2184del (p.Glu728AlafsTer12) | ClinVar |
| 14 | g.64767694T>A | CA390039221 | SPTB | c.6188A>T (p.Glu2063Val) n.520A>T c.2183A>T (p.Glu728Val) | |
| 14 | g.64767694T>C | CA390039222 | SPTB | c.6188A>G (p.Glu2063Gly) n.520A>G c.2183A>G (p.Glu728Gly) | gnomAD v4 |
| 14 | g.64767694T>G | CA390039224 | SPTB | c.6188A>C (p.Glu2063Ala) n.520A>C c.2183A>C (p.Glu728Ala) | |
| 14 | g.64767695C>A | CA390039225 | SPTB | c.6187G>T (p.Glu2063Ter) n.519G>T c.2182G>T (p.Glu728Ter) | |
| 14 | g.64767695C= | CA2142797580 | SPTB | c.6187G= (p.Glu2063=) n.519G= c.2182G= (p.Glu728=) | |
| 14 | g.64767695C>G | CA390039226 | SPTB | c.6187G>C (p.Glu2063Gln) n.519G>C c.2182G>C (p.Glu728Gln) | |
| 14 | g.64767695C>T | CA390039227 | SPTB | c.6187G>A (p.Glu2063Lys) n.519G>A c.2182G>A (p.Glu728Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.64767696T>A | CA486735077 | SPTB | c.6186A>T (p.Ala2062=) n.518A>T c.2181A>T (p.Ala727=) | |
| 14 | g.64767696T>C | CA486735076 | SPTB | c.6186A>G (p.Ala2062=) n.518A>G c.2181A>G (p.Ala727=) | |
| 14 | g.64767696T>G | CA486735075 | SPTB | c.6186A>C (p.Ala2062=) n.518A>C c.2181A>C (p.Ala727=) | |
| 14 | g.64767697G>A | CA390039228 | SPTB | c.6185C>T (p.Ala2062Val) n.517C>T c.2180C>T (p.Ala727Val) | |
| 14 | g.64767697G>C | CA390039229 | SPTB | c.6185C>G (p.Ala2062Gly) n.517C>G c.2180C>G (p.Ala727Gly) | |
| 14 | g.64767697G= | CA2142797583 | SPTB | c.6185C= (p.Ala2062=) n.517C= c.2180C= (p.Ala727=) | |
| 14 | g.64767697G>T | CA390039230 | SPTB | c.6185C>A (p.Ala2062Glu) n.517C>A c.2180C>A (p.Ala727Glu) | dbSNP gnomAD v2 |
| 14 | g.64767698C>A | CA390039231 | SPTB | c.6184G>T (p.Ala2062Ser) n.516G>T c.2179G>T (p.Ala727Ser) | |
| 14 | g.64767698C>G | CA390039232 | SPTB | c.6184G>C (p.Ala2062Pro) n.516G>C c.2179G>C (p.Ala727Pro) | |
| 14 | g.64767698C>T | CA390039233 | SPTB | c.6184G>A (p.Ala2062Thr) n.516G>A c.2179G>A (p.Ala727Thr) | |
| 14 | g.64767699C>A | CA390039236 | SPTB | c.6183G>T (p.Trp2061Cys) n.515G>T c.2178G>T (p.Trp726Cys) | |
| 14 | g.64767699C>G | CA390039234 | SPTB | c.6183G>C (p.Trp2061Cys) n.515G>C c.2178G>C (p.Trp726Cys) | |
| 14 | g.64767699C>T | CA390039235 | SPTB | c.6183G>A (p.Trp2061Ter) n.515G>A c.2178G>A (p.Trp726Ter) | gnomAD v4 |
| 14 | g.64767700C>A | CA390039237 | SPTB | c.6182G>T (p.Trp2061Leu) n.514G>T c.2177G>T (p.Trp726Leu) | |
| 14 | g.64767700C>G | CA390039238 | SPTB | c.6182G>C (p.Trp2061Ser) n.514G>C c.2177G>C (p.Trp726Ser) | gnomAD v4 |
| 14 | g.64767700C>T | CA390039239 | SPTB | c.6182G>A (p.Trp2061Ter) n.514G>A c.2177G>A (p.Trp726Ter) | |
| 14 | g.64767701A= | CA2142797584 | SPTB | c.6181T= (p.Trp2061=) n.513T= c.2176T= (p.Trp726=) | |
| 14 | g.64767701A>C | CA390039240 | SPTB | c.6181T>G (p.Trp2061Gly) n.513T>G c.2176T>G (p.Trp726Gly) | ClinVar dbSNP |
| 14 | g.64767701A>G | CA390039241 | SPTB | c.6181T>C (p.Trp2061Arg) n.513T>C c.2176T>C (p.Trp726Arg) | |
| 14 | g.64767701A>T | CA390039242 | SPTB | c.6181T>A (p.Trp2061Arg) n.513T>A c.2176T>A (p.Trp726Arg) | dbSNP |
| 14 | g.64767702G>A | CA7229747 | SPTB | c.6180C>T (p.Ser2060=) n.512C>T c.2175C>T (p.Ser725=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.64767702G>C | CA390039243 | SPTB | c.6180C>G (p.Ser2060Arg) n.512C>G c.2175C>G (p.Ser725Arg) | |
| 14 | g.64767702G= | CA2142797586 | SPTB | c.6180C= (p.Ser2060=) n.512C= c.2175C= (p.Ser725=) | |
| 14 | g.64767702G>T | CA390039244 | SPTB | c.6180C>A (p.Ser2060Arg) n.512C>A c.2175C>A (p.Ser725Arg) | |
| 14 | g.64767703C>A | CA390039245 | SPTB | c.6179G>T (p.Ser2060Ile) n.511G>T c.2174G>T (p.Ser725Ile) | |
| 14 | g.64767703C>G | CA390039246 | SPTB | c.6179G>C (p.Ser2060Thr) n.511G>C c.2174G>C (p.Ser725Thr) | |
| 14 | g.64767703C>T | CA390039247 | SPTB | c.6179G>A (p.Ser2060Asn) n.511G>A c.2174G>A (p.Ser725Asn) | |
| 14 | g.64767704T>A | CA390039249 | SPTB | c.6178A>T (p.Ser2060Cys) n.510A>T c.2173A>T (p.Ser725Cys) | |
| 14 | g.64767704T>C | CA7229748 | SPTB | c.6178A>G (p.Ser2060Gly) n.510A>G c.2173A>G (p.Ser725Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.64767704T>G | CA390039248 | SPTB | c.6178A>C (p.Ser2060Arg) n.510A>C c.2173A>C (p.Ser725Arg) | |
| 14 | g.64767704T= | CA2142797587 | SPTB | c.6178A= (p.Ser2060=) n.510A= c.2173A= (p.Ser725=) | |
| 14 | g.64767704_64767705delinsTG | CA2142797588 | SPTB | c.6177_6178delinsCA (p.Ala2059=) n.509_510delinsCA c.2172_2173delinsCA (p.Ala724=) | |
| 14 | g.64767705G>A | CA486735078 | SPTB | c.6177C>T (p.Ala2059=) n.509C>T c.2172C>T (p.Ala724=) | |
| 14 | g.64767705G>C | CA486735079 | SPTB | c.6177C>G (p.Ala2059=) n.509C>G c.2172C>G (p.Ala724=) | |
| 14 | g.64767705G>T | CA486735080 | SPTB | c.6177C>A (p.Ala2059=) n.509C>A c.2172C>A (p.Ala724=) | |
| 14 | g.64767706del | CA913185059 | SPTB | c.6177del (p.Ser2060AlafsTer17) c.6177del (p.Ser2060AlafsTer?) n.509del c.2172del (p.Ser725AlafsTer17) | ClinVar dbSNP |
| 14 | g.64767706G>A | CA390039251 | SPTB | c.6176C>T (p.Ala2059Val) n.508C>T c.2171C>T (p.Ala724Val) | |
| 14 | g.64767706G>C | CA390039250 | SPTB | c.6176C>G (p.Ala2059Gly) n.508C>G c.2171C>G (p.Ala724Gly) | |
| 14 | g.64767706G>T | CA390039252 | SPTB | c.6176C>A (p.Ala2059Asp) n.508C>A c.2171C>A (p.Ala724Asp) | |
| 14 | g.64767707C>A | CA390039253 | SPTB | c.6175G>T (p.Ala2059Ser) n.507G>T c.2170G>T (p.Ala724Ser) | |
| 14 | g.64767707C>G | CA390039254 | SPTB | c.6175G>C (p.Ala2059Pro) n.507G>C c.2170G>C (p.Ala724Pro) | gnomAD v4 |
| 14 | g.64767707C>T | CA390039255 | SPTB | c.6175G>A (p.Ala2059Thr) n.507G>A c.2170G>A (p.Ala724Thr) | gnomAD v4 |
| 14 | g.64767708C>A | CA486735082 | SPTB | c.6174G>T (p.Thr2058=) n.506G>T c.2169G>T (p.Thr723=) | |
| 14 | g.64767708C= | CA2142797593 | SPTB | c.6174G= (p.Thr2058=) n.506G= c.2169G= (p.Thr723=) | |
| 14 | g.64767708C>G | CA486735081 | SPTB | c.6174G>C (p.Thr2058=) n.506G>C c.2169G>C (p.Thr723=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.64767708C>T | CA7229749 | SPTB | c.6174G>A (p.Thr2058=) n.506G>A c.2169G>A (p.Thr723=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64767709G>A | CA7229750 | SPTB | c.6173C>T (p.Thr2058Met) n.505C>T c.2168C>T (p.Thr723Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64767709G>C | CA390039256 | SPTB | c.6173C>G (p.Thr2058Arg) n.505C>G c.2168C>G (p.Thr723Arg) | |
| 14 | g.64767709G= | CA2142797597 | SPTB | c.6173C= (p.Thr2058=) n.505C= c.2168C= (p.Thr723=) | |
| 14 | g.64767709G>T | CA390039257 | SPTB | c.6173C>A (p.Thr2058Lys) n.505C>A c.2168C>A (p.Thr723Lys) | gnomAD v4 |
| 14 | g.64767710T>A | CA390039258 | SPTB | c.6172A>T (p.Thr2058Ser) n.504A>T c.2167A>T (p.Thr723Ser) | |
| 14 | g.64767710T>C | CA390039259 | SPTB | c.6172A>G (p.Thr2058Ala) n.504A>G c.2167A>G (p.Thr723Ala) | gnomAD v4 |
| 14 | g.64767710T>G | CA390039260 | SPTB | c.6172A>C (p.Thr2058Pro) n.504A>C c.2167A>C (p.Thr723Pro) | |
| 14 | g.64767711G>A | CA486735083 | SPTB | c.6171C>T (p.Ser2057=) n.503C>T c.2166C>T (p.Ser722=) | |
| 14 | g.64767711G>C | CA486735084 | SPTB | c.6171C>G (p.Ser2057=) n.503C>G c.2166C>G (p.Ser722=) | |
| 14 | g.64767711G>T | CA486735085 | SPTB | c.6171C>A (p.Ser2057=) n.503C>A c.2166C>A (p.Ser722=) | |
| 14 | g.64767712G>A | CA390039261 | SPTB | c.6170C>T (p.Ser2057Phe) n.502C>T c.2165C>T (p.Ser722Phe) | |
| 14 | g.64767712G>C | CA390039262 | SPTB | c.6170C>G (p.Ser2057Cys) n.502C>G c.2165C>G (p.Ser722Cys) | |
| 14 | g.64767712G= | CA2142797599 | SPTB | c.6170C= (p.Ser2057=) n.502C= c.2165C= (p.Ser722=) | |
| 14 | g.64767712G>T | CA7229751 | SPTB | c.6170C>A (p.Ser2057Tyr) n.502C>A c.2165C>A (p.Ser722Tyr) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 14 | g.64767713A>C | CA390039263 | SPTB | c.6169T>G (p.Ser2057Ala) n.501T>G c.2164T>G (p.Ser722Ala) | |
| 14 | g.64767713A>G | CA390039265 | SPTB | c.6169T>C (p.Ser2057Pro) n.501T>C c.2164T>C (p.Ser722Pro) | |
| 14 | g.64767713A>T | CA390039264 | SPTB | c.6169T>A (p.Ser2057Thr) n.501T>A c.2164T>A (p.Ser722Thr) | |
| 14 | g.64767714C>A | CA390039266 | SPTB | c.6168G>T (p.Lys2056Asn) n.500G>T c.2163G>T (p.Lys721Asn) | gnomAD v4 |
| 14 | g.64767714C= | CA2142797600 | SPTB | c.6168G= (p.Lys2056=) n.500G= c.2163G= (p.Lys721=) | |
| 14 | g.64767714C>G | CA390039267 | SPTB | c.6168G>C (p.Lys2056Asn) n.500G>C c.2163G>C (p.Lys721Asn) | |
| 14 | g.64767714C>T | CA486735086 | SPTB | c.6168G>A (p.Lys2056=) n.500G>A c.2163G>A (p.Lys721=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.64767714dup | CA2697553937 | SPTB | c.6168dup (p.Ser2057ValfsTer19) c.6168dup (p.Ser2057ValfsTer?) n.500dup c.2163dup (p.Ser722ValfsTer19) | ClinVar |
| 14 | g.64767715T>A | CA390039268 | SPTB | c.6167A>T (p.Lys2056Met) n.499A>T c.2162A>T (p.Lys721Met) | |
| 14 | g.64767715T>C | CA390039269 | SPTB | c.6167A>G (p.Lys2056Arg) n.499A>G c.2162A>G (p.Lys721Arg) | |
| 14 | g.64767715T>G | CA390039270 | SPTB | c.6167A>C (p.Lys2056Thr) n.499A>C c.2162A>C (p.Lys721Thr) | gnomAD v4 |
| 14 | g.64767715_64767722del | CA2695219391 | SPTB | c.6160_6167del (p.Phe2054ValfsTer19) c.6160_6167del (p.Phe2054ValfsTer?) n.492_499del c.2155_2162del (p.Phe719ValfsTer19) | |
| 14 | g.64767716T>A | CA390039271 | SPTB | c.6166A>T (p.Lys2056Ter) n.498A>T c.2161A>T (p.Lys721Ter) | |
| 14 | g.64767716T>C | CA390039272 | SPTB | c.6166A>G (p.Lys2056Glu) n.498A>G c.2161A>G (p.Lys721Glu) | |
| 14 | g.64767716T>G | CA390039273 | SPTB | c.6166A>C (p.Lys2056Gln) n.498A>C c.2161A>C (p.Lys721Gln) | gnomAD v4 |
| 14 | g.64767717C>A | CA390039274 | SPTB | c.6165G>T (p.Glu2055Asp) n.497G>T c.2160G>T (p.Glu720Asp) | |
| 14 | g.64767717C= | CA2142797602 | SPTB | c.6165G= (p.Glu2055=) n.497G= c.2160G= (p.Glu720=) | |
| 14 | g.64767717C>G | CA390039275 | SPTB | c.6165G>C (p.Glu2055Asp) n.497G>C c.2160G>C (p.Glu720Asp) | |
| 14 | g.64767717C>T | CA486735087 | SPTB | c.6165G>A (p.Glu2055=) n.497G>A c.2160G>A (p.Glu720=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64767718T>A | CA390039278 | SPTB | c.6164A>T (p.Glu2055Val) n.496A>T c.2159A>T (p.Glu720Val) | |
| 14 | g.64767718T>C | CA390039277 | SPTB | c.6164A>G (p.Glu2055Gly) n.496A>G c.2159A>G (p.Glu720Gly) | gnomAD v4 |
| 14 | g.64767718T>G | CA390039276 | SPTB | c.6164A>C (p.Glu2055Ala) n.496A>C c.2159A>C (p.Glu720Ala) | |
| 14 | g.64767719C>A | CA390039279 | SPTB | c.6163G>T (p.Glu2055Ter) n.495G>T c.2158G>T (p.Glu720Ter) | |
| 14 | g.64767719C>G | CA390039280 | SPTB | c.6163G>C (p.Glu2055Gln) n.495G>C c.2158G>C (p.Glu720Gln) | gnomAD v4 |
| 14 | g.64767719C>T | CA390039281 | SPTB | c.6163G>A (p.Glu2055Lys) n.495G>A c.2158G>A (p.Glu720Lys) | gnomAD v4 |
| 14 | g.64767720A>C | CA390039282 | SPTB | c.6162T>G (p.Phe2054Leu) n.494T>G c.2157T>G (p.Phe719Leu) | |
| 14 | g.64767720A>G | CA486735088 | SPTB | c.6162T>C (p.Phe2054=) n.494T>C c.2157T>C (p.Phe719=) | |
| 14 | g.64767720A>T | CA390039283 | SPTB | c.6162T>A (p.Phe2054Leu) n.494T>A c.2157T>A (p.Phe719Leu) | |
| 14 | g.64767721A>C | CA390039286 | SPTB | c.6161T>G (p.Phe2054Cys) n.493T>G c.2156T>G (p.Phe719Cys) | |
| 14 | g.64767721A>G | CA390039285 | SPTB | c.6161T>C (p.Phe2054Ser) n.493T>C c.2156T>C (p.Phe719Ser) | |
| 14 | g.64767721A>T | CA390039284 | SPTB | c.6161T>A (p.Phe2054Tyr) n.493T>A c.2156T>A (p.Phe719Tyr) | |
| 14 | g.64767722A>C | CA390039287 | SPTB | c.6160T>G (p.Phe2054Val) n.492T>G c.2155T>G (p.Phe719Val) | |
| 14 | g.64767722A>G | CA390039288 | SPTB | c.6160T>C (p.Phe2054Leu) n.492T>C c.2155T>C (p.Phe719Leu) | |
| 14 | g.64767722A>T | CA390039289 | SPTB | c.6160T>A (p.Phe2054Ile) n.492T>A c.2155T>A (p.Phe719Ile) | |
| 14 | g.64767723A>C | CA486735089 | SPTB | c.6159T>G (p.Ala2053=) n.491T>G c.2154T>G (p.Ala718=) | |
| 14 | g.64767723A>G | CA486735090 | SPTB | c.6159T>C (p.Ala2053=) n.491T>C c.2154T>C (p.Ala718=) | |
| 14 | g.64767723A>T | CA486735091 | SPTB | c.6159T>A (p.Ala2053=) n.491T>A c.2154T>A (p.Ala718=) | |
| 14 | g.64767724G>A | CA390039290 | SPTB | c.6158C>T (p.Ala2053Val) n.490C>T c.2153C>T (p.Ala718Val) | |
| 14 | g.64767724G>C | CA390039291 | SPTB | c.6158C>G (p.Ala2053Gly) n.490C>G c.2153C>G (p.Ala718Gly) | |
| 14 | g.64767724G>T | CA390039292 | SPTB | c.6158C>A (p.Ala2053Asp) n.490C>A c.2153C>A (p.Ala718Asp) | |
| 14 | g.64767725C>A | CA390039293 | SPTB | c.6157G>T (p.Ala2053Ser) n.489G>T c.2152G>T (p.Ala718Ser) | gnomAD v4 |
| 14 | g.64767725C= | CA2142797603 | SPTB | c.6157G= (p.Ala2053=) n.489G= c.2152G= (p.Ala718=) | |
| 14 | g.64767725C>G | CA122734 | SPTB | c.6157G>C (p.Ala2053Pro) n.489G>C c.2152G>C (p.Ala718Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64767725C>T | CA390039294 | SPTB | c.6157G>A (p.Ala2053Thr) n.489G>A c.2152G>A (p.Ala718Thr) | |
| 14 | g.64767726C>A | CA390039295 | SPTB | c.6156G>T (p.Glu2052Asp) n.488G>T c.2151G>T (p.Glu717Asp) | |
| 14 | g.64767726C= | CA2142797606 | SPTB | c.6156G= (p.Glu2052=) n.488G= c.2151G= (p.Glu717=) | |
| 14 | g.64767726C>G | CA390039296 | SPTB | c.6156G>C (p.Glu2052Asp) n.488G>C c.2151G>C (p.Glu717Asp) | |
| 14 | g.64767726C>T | CA7229752 | SPTB | c.6156G>A (p.Glu2052=) n.488G>A c.2151G>A (p.Glu717=) | dbSNP ExAC |
| 14 | g.64767727T>A | CA390039297 | SPTB | c.6155A>T (p.Glu2052Val) n.487A>T c.2150A>T (p.Glu717Val) | |
| 14 | g.64767727T>C | CA390039298 | SPTB | c.6155A>G (p.Glu2052Gly) n.487A>G c.2150A>G (p.Glu717Gly) | |
| 14 | g.64767727T>G | CA390039299 | SPTB | c.6155A>C (p.Glu2052Ala) n.487A>C c.2150A>C (p.Glu717Ala) | |
| 14 | g.64767728C>A | CA390039300 | SPTB | c.6154G>T (p.Glu2052Ter) n.486G>T c.2149G>T (p.Glu717Ter) | |
| 14 | g.64767728C>G | CA390039301 | SPTB | c.6154G>C (p.Glu2052Gln) n.486G>C c.2149G>C (p.Glu717Gln) | |
| 14 | g.64767728C>T | CA390039302 | SPTB | c.6154G>A (p.Glu2052Lys) n.486G>A c.2149G>A (p.Glu717Lys) | COSMIC COSMIC |
| 14 | g.64767729A= | CA2142797608 | SPTB | c.6153T= (p.His2051=) n.485T= c.2148T= (p.His716=) | |
| 14 | g.64767729A>C | CA262682718 | SPTB | c.6153T>G (p.His2051Gln) n.485T>G c.2148T>G (p.His716Gln) | dbSNP |
| 14 | g.64767729A>G | CA486735092 | SPTB | c.6153T>C (p.His2051=) n.485T>C c.2148T>C (p.His716=) | |
| 14 | g.64767729A>T | CA390039303 | SPTB | c.6153T>A (p.His2051Gln) n.485T>A c.2148T>A (p.His716Gln) | |
| 14 | g.64767730T>A | CA390039305 | SPTB | c.6152A>T (p.His2051Leu) n.484A>T c.2147A>T (p.His716Leu) | |
| 14 | g.64767730T>C | CA390039306 | SPTB | c.6152A>G (p.His2051Arg) n.484A>G c.2147A>G (p.His716Arg) | |
| 14 | g.64767730T>G | CA390039304 | SPTB | c.6152A>C (p.His2051Pro) n.484A>C c.2147A>C (p.His716Pro) | |
| 14 | g.64767731G>A | CA390039307 | SPTB | c.6151C>T (p.His2051Tyr) n.483C>T c.2146C>T (p.His716Tyr) | gnomAD v4 |
| 14 | g.64767731G>C | CA390039309 | SPTB | c.6151C>G (p.His2051Asp) n.483C>G c.2146C>G (p.His716Asp) | |
| 14 | g.64767731G>T | CA390039308 | SPTB | c.6151C>A (p.His2051Asn) n.483C>A c.2146C>A (p.His716Asn) | |
| 14 | g.64767732C>A | CA262682723 | SPTB | c.6150G>T (p.Arg2050Ser) n.482G>T c.2145G>T (p.Arg715Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64767732C= | CA2142797611 | SPTB | c.6150G= (p.Arg2050=) n.482G= c.2145G= (p.Arg715=) | |
| 14 | g.64767732C>G | CA390039310 | SPTB | c.6150G>C (p.Arg2050Ser) n.482G>C c.2145G>C (p.Arg715Ser) | COSMIC |
| 14 | g.64767732C>T | CA486735093 | SPTB | c.6150G>A (p.Arg2050=) n.482G>A c.2145G>A (p.Arg715=) | dbSNP |
| 14 | g.64767733del | CA2625262833 | SPTB | c.6150del (p.Arg2050SerfsTer27) c.6150del (p.Arg2050SerfsTer?) n.482del c.2145del (p.Arg715SerfsTer27) | gnomAD v4 |
| 14 | g.64767733C>A | CA390039311 | SPTB | c.6149G>T (p.Arg2050Met) n.481G>T c.2144G>T (p.Arg715Met) | |
| 14 | g.64767733C>G | CA390039313 | SPTB | c.6149G>C (p.Arg2050Thr) n.481G>C c.2144G>C (p.Arg715Thr) | |
| 14 | g.64767733C>T | CA390039312 | SPTB | c.6149G>A (p.Arg2050Lys) n.481G>A c.2144G>A (p.Arg715Lys) | |
| 14 | g.64767734T>A | CA390039314 | SPTB | c.6148A>T (p.Arg2050Trp) n.480A>T c.2143A>T (p.Arg715Trp) | |
| 14 | g.64767734T>C | CA390039315 | SPTB | c.6148A>G (p.Arg2050Gly) n.480A>G c.2143A>G (p.Arg715Gly) | |
| 14 | g.64767734T>G | CA486735094 | SPTB | c.6148A>C (p.Arg2050=) n.480A>C c.2143A>C (p.Arg715=) | |
| 14 | g.64767735C>A | CA390039316 | SPTB | c.6147G>T (p.Lys2049Asn) n.479G>T c.2142G>T (p.Lys714Asn) | |
| 14 | g.64767735C>G | CA390039317 | SPTB | c.6147G>C (p.Lys2049Asn) n.479G>C c.2142G>C (p.Lys714Asn) | |
| 14 | g.64767735C>T | CA486735095 | SPTB | c.6147G>A (p.Lys2049=) n.479G>A c.2142G>A (p.Lys714=) | gnomAD v4 |
| 14 | g.64767736T>A | CA390039318 | SPTB | c.6146A>T (p.Lys2049Met) n.478A>T c.2141A>T (p.Lys714Met) | |
| 14 | g.64767736T>C | CA390039319 | SPTB | c.6146A>G (p.Lys2049Arg) n.478A>G c.2141A>G (p.Lys714Arg) | |
| 14 | g.64767736T>G | CA390039320 | SPTB | c.6146A>C (p.Lys2049Thr) n.478A>C c.2141A>C (p.Lys714Thr) | |
| 14 | g.64767737T>A | CA390039321 | SPTB | c.6145A>T (p.Lys2049Ter) n.477A>T c.2140A>T (p.Lys714Ter) | |
| 14 | g.64767737T>C | CA390039322 | SPTB | c.6145A>G (p.Lys2049Glu) n.477A>G c.2140A>G (p.Lys714Glu) | |
| 14 | g.64767737T>G | CA390039323 | SPTB | c.6145A>C (p.Lys2049Gln) n.477A>C c.2140A>C (p.Lys714Gln) |