1 | g.115033460_115033462delinsGGA | CA1190425216 | TSHB | c.98_100delinsGGA (p.Arg33=)
| |
1 | g.115033466_115033467del | CA913047927 | TSHB | c.104_105del (p.Glu35ValfsTer?)
| dbSNP gnomAD v4 |
1 | g.115033462A>C | CA419891357 | TSHB | c.100A>C (p.Arg34=)
| |
1 | g.115033462A>G | CA341755079 | TSHB | c.100A>G (p.Arg34Gly)
| |
1 | g.115033462A>T | CA341755076 | TSHB | c.100A>T (p.Arg34Ter)
| |
1 | g.115033463G>A | CA341755082 | TSHB | c.101G>A (p.Arg34Lys)
| gnomAD v4 |
1 | g.115033463G>C | CA341755086 | TSHB | c.101G>C (p.Arg34Thr)
| |
1 | g.115033463G= | CA1190425219 | TSHB | c.101G= (p.Arg34=)
| |
1 | g.115033463G>T | CA341755089 | TSHB | c.101G>T (p.Arg34Ile)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.115033464A>C | CA341755092 | TSHB | c.102A>C (p.Arg34Ser)
| |
1 | g.115033464A>G | CA419891362 | TSHB | c.102A>G (p.Arg34=)
| |
1 | g.115033464A>T | CA341755094 | TSHB | c.102A>T (p.Arg34Ser)
| |
1 | g.115033465G>A | CA341755097 | TSHB | c.103G>A (p.Glu35Lys)
| gnomAD v4 |
1 | g.115033465G>C | CA341755100 | TSHB | c.103G>C (p.Glu35Gln)
| |
1 | g.115033465G>T | CA341755105 | TSHB | c.103G>T (p.Glu35Ter)
| |
1 | g.115033466A>C | CA341755108 | TSHB | c.104A>C (p.Glu35Ala)
| |
1 | g.115033466A>G | CA341755110 | TSHB | c.104A>G (p.Glu35Gly)
| |
1 | g.115033466A>T | CA341755113 | TSHB | c.104A>T (p.Glu35Val)
| |
1 | g.115033467G>A | CA419891369 | TSHB | c.105G>A (p.Glu35=)
| |
1 | g.115033467G>C | CA341755116 | TSHB | c.105G>C (p.Glu35Asp)
| |
1 | g.115033467G>T | CA341755119 | TSHB | c.105G>T (p.Glu35Asp)
| |
1 | g.115033470_115033471del | CA2580611475 | TSHB | c.108_109del (p.Ala37LeufsTer?)
| ClinVar dbSNP gnomAD v4 |
1 | g.115033468T>A | CA341755127 | TSHB | c.106T>A (p.Cys36Ser)
| |
1 | g.115033468T>C | CA341755131 | TSHB | c.106T>C (p.Cys36Arg)
| |
1 | g.115033468T>G | CA341755124 | TSHB | c.106T>G (p.Cys36Gly)
| |
1 | g.115033469G>A | CA341755141 | TSHB | c.107G>A (p.Cys36Tyr)
| COSMIC |
1 | g.115033469G>C | CA341755136 | TSHB | c.107G>C (p.Cys36Ser)
| |
1 | g.115033469G>T | CA341755139 | TSHB | c.107G>T (p.Cys36Phe)
| |
1 | g.115033470T>A | CA341755144 | TSHB | c.108T>A (p.Cys36Ter)
| |
1 | g.115033470T>C | CA419891374 | TSHB | c.108T>C (p.Cys36=)
| |
1 | g.115033470T>G | CA341755147 | TSHB | c.108T>G (p.Cys36Trp)
| |
1 | g.115033471G>A | CA341755152 | TSHB | c.109G>A (p.Ala37Thr)
| |
1 | g.115033471G>C | CA341755155 | TSHB | c.109G>C (p.Ala37Pro)
| |
1 | g.115033471G>T | CA341755158 | TSHB | c.109G>T (p.Ala37Ser)
| |
1 | g.115033472C>A | CA341755164 | TSHB | c.110C>A (p.Ala37Asp)
| |
1 | g.115033472C>G | CA341755166 | TSHB | c.110C>G (p.Ala37Gly)
| |
1 | g.115033472C>T | CA341755168 | TSHB | c.110C>T (p.Ala37Val)
| |
1 | g.115033473T>A | CA419891379 | TSHB | c.111T>A (p.Ala37=)
| |
1 | g.115033473T>C | CA419891380 | TSHB | c.111T>C (p.Ala37=)
| COSMIC |
1 | g.115033473T>G | CA419891381 | TSHB | c.111T>G (p.Ala37=)
| |
1 | g.115033474T>A | CA341755171 | TSHB | c.112T>A (p.Tyr38Asn)
| |
1 | g.115033474T>C | CA341755174 | TSHB | c.112T>C (p.Tyr38His)
| ClinVar |
1 | g.115033474T>G | CA341755177 | TSHB | c.112T>G (p.Tyr38Asp)
| |
1 | g.115033475A= | CA1190425220 | TSHB | c.113A= (p.Tyr38=)
| |
1 | g.115033475A>C | CA341755185 | TSHB | c.113A>C (p.Tyr38Ser)
| |
1 | g.115033475A>G | CA341755181 | TSHB | c.113A>G (p.Tyr38Cys)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.115033475A>T | CA341755184 | TSHB | c.113A>T (p.Tyr38Phe)
| |
1 | g.115033476T>A | CA341755189 | TSHB | c.114T>A (p.Tyr38Ter)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.115033476T>C | CA419891387 | TSHB | c.114T>C (p.Tyr38=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.115033476T>G | CA341755191 | TSHB | c.114T>G (p.Tyr38Ter)
| |
1 | g.115033476T= | CA1190425221 | TSHB | c.114T= (p.Tyr38=)
| |
1 | g.115033477T>A | CA341755195 | TSHB | c.115T>A (p.Cys39Ser)
| |
1 | g.115033477T>C | CA341755196 | TSHB | c.115T>C (p.Cys39Arg)
| |
1 | g.115033477T>G | CA341755199 | TSHB | c.115T>G (p.Cys39Gly)
| |
1 | g.115033478G>A | CA341755202 | TSHB | c.116G>A (p.Cys39Tyr)
| |
1 | g.115033478G>C | CA341755203 | TSHB | c.116G>C (p.Cys39Ser)
| |
1 | g.115033478G>T | CA341755205 | TSHB | c.116G>T (p.Cys39Phe)
| |
1 | g.115033479C>A | CA341755208 | TSHB | c.117C>A (p.Cys39Ter)
| |
1 | g.115033479C>G | CA341755211 | TSHB | c.117C>G (p.Cys39Trp)
| |
1 | g.115033479C>T | CA419891394 | TSHB | c.117C>T (p.Cys39=)
| gnomAD v4 |
1 | g.115033480C>A | CA341755214 | TSHB | c.118C>A (p.Leu40Ile)
| |
1 | g.115033480C= | CA1190425222 | TSHB | c.118C= (p.Leu40=)
| |
1 | g.115033480C>G | CA341755216 | TSHB | c.118C>G (p.Leu40Val)
| gnomAD v4 |
1 | g.115033480C>T | CA419891396 | TSHB | c.118C>T (p.Leu40=)
| dbSNP |
1 | g.115033481T>A | CA29083516 | TSHB | c.119T>A (p.Leu40Gln)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.115033481T>C | CA341755223 | TSHB | c.119T>C (p.Leu40Pro)
| |
1 | g.115033481T>G | CA341755220 | TSHB | c.119T>G (p.Leu40Arg)
| |
1 | g.115033481T= | CA1190425223 | TSHB | c.119T= (p.Leu40=)
| |
1 | g.115033482A>C | CA419891398 | TSHB | c.120A>C (p.Leu40=)
| |
1 | g.115033482A>G | CA419891399 | TSHB | c.120A>G (p.Leu40=)
| |
1 | g.115033482A>T | CA419891400 | TSHB | c.120A>T (p.Leu40=)
| |
1 | g.115033483A>C | CA341755230 | TSHB | c.121A>C (p.Thr41Pro)
| |
1 | g.115033483A>G | CA341755233 | TSHB | c.121A>G (p.Thr41Ala)
| |
1 | g.115033483A>T | CA341755234 | TSHB | c.121A>T (p.Thr41Ser)
| |
1 | g.115033484C>A | CA1022530 | TSHB | c.122C>A (p.Thr41Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.115033484C= | CA1143193557 | TSHB | c.122C= (p.Thr41=)
| |
1 | g.115033484C>G | CA341755239 | TSHB | c.122C>G (p.Thr41Ser)
| |
1 | g.115033484C>T | CA341755241 | TSHB | c.122C>T (p.Thr41Ile)
| gnomAD v4 |
1 | g.115033485C>A | CA419891404 | TSHB | c.123C>A (p.Thr41=)
| |
1 | g.115033485C= | CA1190425224 | TSHB | c.123C= (p.Thr41=)
| |
1 | g.115033485C>G | CA419891407 | TSHB | c.123C>G (p.Thr41=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.115033485C>T | CA419891405 | TSHB | c.123C>T (p.Thr41=)
| |
1 | g.115033486A>C | CA341755246 | TSHB | c.124A>C (p.Ile42Leu)
| |
1 | g.115033486A>G | CA341755249 | TSHB | c.124A>G (p.Ile42Val)
| COSMIC |
1 | g.115033486A>T | CA341755252 | TSHB | c.124A>T (p.Ile42Phe)
| |
1 | g.115033487T>A | CA341755255 | TSHB | c.125T>A (p.Ile42Asn)
| |
1 | g.115033487T>C | CA341755258 | TSHB | c.125T>C (p.Ile42Thr)
| |
1 | g.115033487T>G | CA341755262 | TSHB | c.125T>G (p.Ile42Ser)
| |
1 | g.115033488C>A | CA419891410 | TSHB | c.126C>A (p.Ile42=)
| |
1 | g.115033488C= | CA1190425225 | TSHB | c.126C= (p.Ile42=)
| |
1 | g.115033488C>G | CA341755265 | TSHB | c.126C>G (p.Ile42Met)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.115033488C>T | CA419891411 | TSHB | c.126C>T (p.Ile42=)
| |
1 | g.115033489A>C | CA341755273 | TSHB | c.127A>C (p.Asn43His)
| |
1 | g.115033489A>G | CA341755276 | TSHB | c.127A>G (p.Asn43Asp)
| |
1 | g.115033489A>T | CA341755269 | TSHB | c.127A>T (p.Asn43Tyr)
| |
1 | g.115033490A= | CA1190425226 | TSHB | c.128A= (p.Asn43=)
| |
1 | g.115033490A>C | CA341755280 | TSHB | c.128A>C (p.Asn43Thr)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.115033490A>G | CA341755283 | TSHB | c.128A>G (p.Asn43Ser)
| |
1 | g.115033490A>T | CA341755285 | TSHB | c.128A>T (p.Asn43Ile)
| |
1 | g.115033491C>A | CA341755289 | TSHB | c.129C>A (p.Asn43Lys)
| |
1 | g.115033491C>G | CA341755292 | TSHB | c.129C>G (p.Asn43Lys)
| |
1 | g.115033491C>T | CA419891416 | TSHB | c.129C>T (p.Asn43=)
| |
1 | g.115033492A>C | CA341755301 | TSHB | c.130A>C (p.Thr44Pro)
| |
1 | g.115033492A>G | CA341755298 | TSHB | c.130A>G (p.Thr44Ala)
| |
1 | g.115033492A>T | CA341755300 | TSHB | c.130A>T (p.Thr44Ser)
| |
1 | g.115033493C>A | CA341755303 | TSHB | c.131C>A (p.Thr44Asn)
| |
1 | g.115033493C= | CA1190425227 | TSHB | c.131C= (p.Thr44=)
| |
1 | g.115033493C>G | CA341755305 | TSHB | c.131C>G (p.Thr44Ser)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.115033493C>T | CA341755307 | TSHB | c.131C>T (p.Thr44Ile)
| gnomAD v4 |
1 | g.115033494C>A | CA419891419 | TSHB | c.132C>A (p.Thr44=)
| |
1 | g.115033494C= | CA1190425228 | TSHB | c.132C= (p.Thr44=)
| |
1 | g.115033494C>G | CA419891420 | TSHB | c.132C>G (p.Thr44=)
| |
1 | g.115033494C>T | CA29083524 | TSHB | c.132C>T (p.Thr44=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.115033495A= | CA1190425229 | TSHB | c.133A= (p.Thr45=)
| |
1 | g.115033495A>C | CA341755309 | TSHB | c.133A>C (p.Thr45Pro)
| |
1 | g.115033495A>G | CA341755311 | TSHB | c.133A>G (p.Thr45Ala)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.115033495A>T | CA341755313 | TSHB | c.133A>T (p.Thr45Ser)
| |
1 | g.115033496C>A | CA341755316 | TSHB | c.134C>A (p.Thr45Asn)
| |
1 | g.115033496C= | CA1190425230 | TSHB | c.134C= (p.Thr45=)
| |
1 | g.115033496C>G | CA341755317 | TSHB | c.134C>G (p.Thr45Ser)
| |
1 | g.115033496C>T | CA1022531 | TSHB | c.134C>T (p.Thr45Ile)
| dbSNP ExAC gnomAD v2 |
1 | g.115033497C>A | CA419891422 | TSHB | c.135C>A (p.Thr45=)
| |
1 | g.115033497C= | CA1190425231 | TSHB | c.135C= (p.Thr45=)
| |
1 | g.115033497C>G | CA419891423 | TSHB | c.135C>G (p.Thr45=)
| |
1 | g.115033497C>T | CA419891424 | TSHB | c.135C>T (p.Thr45=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.115033498A= | CA1190425232 | TSHB | c.136A= (p.Ile46=)
| |
1 | g.115033498A>C | CA341755322 | TSHB | c.136A>C (p.Ile46Leu)
| |
1 | g.115033498A>G | CA341755320 | TSHB | c.136A>G (p.Ile46Val)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.115033498A>T | CA341755324 | TSHB | c.136A>T (p.Ile46Phe)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.115033499T>A | CA341755326 | TSHB | c.137T>A (p.Ile46Asn)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.115033499T>C | CA341755330 | TSHB | c.137T>C (p.Ile46Thr)
| |
1 | g.115033499T>G | CA341755328 | TSHB | c.137T>G (p.Ile46Ser)
| |
1 | g.115033499T= | CA1190425233 | TSHB | c.137T= (p.Ile46=)
| |
1 | g.115033500C>A | CA419891425 | TSHB | c.138C>A (p.Ile46=)
| |
1 | g.115033500C>G | CA341755332 | TSHB | c.138C>G (p.Ile46Met)
| |
1 | g.115033500C>T | CA419891426 | TSHB | c.138C>T (p.Ile46=)
| |
1 | g.115033501T>A | CA341755337 | TSHB | c.139T>A (p.Cys47Ser)
| |
1 | g.115033501T>C | CA341755333 | TSHB | c.139T>C (p.Cys47Arg)
| |
1 | g.115033501T>G | CA341755335 | TSHB | c.139T>G (p.Cys47Gly)
| |
1 | g.115033502G>A | CA341755339 | TSHB | c.140G>A (p.Cys47Tyr)
| |
1 | g.115033502G>C | CA1022532 | TSHB | c.140G>C (p.Cys47Ser)
| dbSNP ExAC gnomAD v3 gnomAD v4 |
1 | g.115033502G= | CA1142212392 | TSHB | c.140G= (p.Cys47=)
| |
1 | g.115033502G>T | CA341755342 | TSHB | c.140G>T (p.Cys47Phe)
| |
1 | g.115033503T>A | CA341755344 | TSHB | c.141T>A (p.Cys47Ter)
| gnomAD v4 |
1 | g.115033503T>C | CA419891429 | TSHB | c.141T>C (p.Cys47=)
| |
1 | g.115033503T>G | CA341755346 | TSHB | c.141T>G (p.Cys47Trp)
| gnomAD v4 |
1 | g.115033504G>A | CA341755348 | TSHB | c.142G>A (p.Ala48Thr)
| |
1 | g.115033504G>C | CA341755350 | TSHB | c.142G>C (p.Ala48Pro)
| |
1 | g.115033504G>T | CA341755351 | TSHB | c.142G>T (p.Ala48Ser)
| |
1 | g.115033505C>A | CA341755354 | TSHB | c.143C>A (p.Ala48Asp)
| |
1 | g.115033505C>G | CA341755356 | TSHB | c.143C>G (p.Ala48Gly)
| gnomAD v4 |
1 | g.115033505C>T | CA341755358 | TSHB | c.143C>T (p.Ala48Val)
| |
1 | g.115033506T>A | CA419891432 | TSHB | c.144T>A (p.Ala48=)
| gnomAD v4 |
1 | g.115033506T>C | CA419891433 | TSHB | c.144T>C (p.Ala48=)
| |
1 | g.115033506T>G | CA419891434 | TSHB | c.144T>G (p.Ala48=)
| |
1 | g.115033507G>A | CA122627 | TSHB | c.145G>A (p.Gly49Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.115033507G>C | CA341755363 | TSHB | c.145G>C (p.Gly49Arg)
| |
1 | g.115033507G= | CA1141580986 | TSHB | c.145G= (p.Gly49=)
| |
1 | g.115033507G>T | CA341755362 | TSHB | c.145G>T (p.Gly49Ter)
| |
1 | g.115033508G>A | CA29083554 | TSHB | c.146G>A (p.Gly49Glu)
| dbSNP |
1 | g.115033508G>C | CA341755366 | TSHB | c.146G>C (p.Gly49Ala)
| |
1 | g.115033508G= | CA1143536842 | TSHB | c.146G= (p.Gly49=)
| |
1 | g.115033508G>T | CA341755368 | TSHB | c.146G>T (p.Gly49Val)
| |
1 | g.115033509A>C | CA419891442 | TSHB | c.147A>C (p.Gly49=)
| |
1 | g.115033509A>G | CA419891444 | TSHB | c.147A>G (p.Gly49=)
| gnomAD v4 |
1 | g.115033509A>T | CA419891440 | TSHB | c.147A>T (p.Gly49=)
| |
1 | g.115033510T>A | CA341755371 | TSHB | c.148T>A (p.Tyr50Asn)
| |
1 | g.115033510T>C | CA341755373 | TSHB | c.148T>C (p.Tyr50His)
| gnomAD v4 |
1 | g.115033510T>G | CA341755374 | TSHB | c.148T>G (p.Tyr50Asp)
| |
1 | g.115033511A>C | CA341755377 | TSHB | c.149A>C (p.Tyr50Ser)
| |
1 | g.115033511A>G | CA341755380 | TSHB | c.149A>G (p.Tyr50Cys)
| gnomAD v4 |
1 | g.115033511A>T | CA341755381 | TSHB | c.149A>T (p.Tyr50Phe)
| |
1 | g.115033512T>A | CA341755386 | TSHB | c.150T>A (p.Tyr50Ter)
| |
1 | g.115033512T>C | CA1022533 | TSHB | c.150T>C (p.Tyr50=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.115033512T>G | CA341755384 | TSHB | c.150T>G (p.Tyr50Ter)
| |
1 | g.115033512T= | CA1190425234 | TSHB | c.150T= (p.Tyr50=)
| |
1 | g.115033513T>A | CA341755388 | TSHB | c.151T>A (p.Cys51Ser)
| |
1 | g.115033513T>C | CA341755390 | TSHB | c.151T>C (p.Cys51Arg)
| gnomAD v4 |
1 | g.115033513T>G | CA341755391 | TSHB | c.151T>G (p.Cys51Gly)
| |
1 | g.115033514G>A | CA341755394 | TSHB | c.152G>A (p.Cys51Tyr)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.115033514G>C | CA341755396 | TSHB | c.152G>C (p.Cys51Ser)
| |
1 | g.115033514G= | CA1190425235 | TSHB | c.152G= (p.Cys51=)
| |
1 | g.115033514G>T | CA341755397 | TSHB | c.152G>T (p.Cys51Phe)
| |
1 | g.115033515T>A | CA341755400 | TSHB | c.153T>A (p.Cys51Ter)
| |
1 | g.115033515T>C | CA419891452 | TSHB | c.153T>C (p.Cys51=)
| |
1 | g.115033515T>G | CA341755401 | TSHB | c.153T>G (p.Cys51Trp)
| |
1 | g.115033516A>C | CA341755403 | TSHB | c.154A>C (p.Met52Leu)
| |
1 | g.115033516A>G | CA341755405 | TSHB | c.154A>G (p.Met52Val)
| gnomAD v4 |
1 | g.115033516A>T | CA341755407 | TSHB | c.154A>T (p.Met52Leu)
| |
1 | g.115033517T>A | CA341755411 | TSHB | c.155T>A (p.Met52Lys)
| |
1 | g.115033517T>C | CA341755410 | TSHB | c.155T>C (p.Met52Thr)
| gnomAD v4 |
1 | g.115033517T>G | CA29083555 | TSHB | c.155T>G (p.Met52Arg)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.115033517T= | CA1143463322 | TSHB | c.155T= (p.Met52=)
| |
1 | g.115033518G>A | CA341755414 | TSHB | c.156G>A (p.Met52Ile)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.115033518G>C | CA341755416 | TSHB | c.156G>C (p.Met52Ile)
| |
1 | g.115033518G= | CA1190425236 | TSHB | c.156G= (p.Met52=)
| |
1 | g.115033518G>T | CA341755417 | TSHB | c.156G>T (p.Met52Ile)
| gnomAD v4 |
1 | g.115033519A>C | CA341755418 | TSHB | c.157A>C (p.Thr53Pro)
| |
1 | g.115033519A>G | CA341755420 | TSHB | c.157A>G (p.Thr53Ala)
| COSMIC |
1 | g.115033519A>T | CA341755422 | TSHB | c.157A>T (p.Thr53Ser)
| |
1 | g.115033520C>A | CA341755425 | TSHB | c.158C>A (p.Thr53Lys)
| |
1 | g.115033520C>G | CA341755426 | TSHB | c.158C>G (p.Thr53Arg)
| |
1 | g.115033520C>T | CA341755428 | TSHB | c.158C>T (p.Thr53Ile)
| |
1 | g.115033521A= | CA1190425237 | TSHB | c.159A= (p.Thr53=)
| |
1 | g.115033521A>C | CA419891464 | TSHB | c.159A>C (p.Thr53=)
| |
1 | g.115033521A>G | CA1022534 | TSHB | c.159A>G (p.Thr53=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.115033521A>T | CA419891465 | TSHB | c.159A>T (p.Thr53=)
| |
1 | g.115033522C>A | CA1022536 | TSHB | c.160C>A (p.Arg54=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.115033522C= | CA1190425238 | TSHB | c.160C= (p.Arg54=)
| |
1 | g.115033522C>G | CA341755433 | TSHB | c.160C>G (p.Arg54Gly)
| |
1 | g.115033522C>T | CA1022535 | TSHB | c.160C>T (p.Arg54Trp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.115033523G>A | CA1022537 | TSHB | c.161G>A (p.Arg54Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.115033523G>C | CA341755439 | TSHB | c.161G>C (p.Arg54Pro)
| |
1 | g.115033523G= | CA1190425239 | TSHB | c.161G= (p.Arg54=)
| |
1 | g.115033523G>T | CA341755436 | TSHB | c.161G>T (p.Arg54Leu)
| |
1 | g.115033524G>A | CA419891473 | TSHB | c.162G>A (p.Arg54=)
| |
1 | g.115033524G>C | CA419891472 | TSHB | c.162G>C (p.Arg54=)
| |
1 | g.115033524G= | CA1190425241 | TSHB | c.162G= (p.Arg54=)
| |
1 | g.115033524G>T | CA419891470 | TSHB | c.162G>T (p.Arg54=)
| dbSNP |
1 | g.115033525_115033532dup | CA1190425240 | TSHB | c.162+1_162+8dup
| dbSNP |
1 | g.115033525G>A | CA341755445 | TSHB | c.162+1G>A (n.162+1G>A)
| |
1 | g.115033525G>C | CA341755442 | TSHB | c.162+1G>C (n.162+1G>C)
| |
1 | g.115033525G>T | CA341755444 | TSHB | c.162+1G>T (n.162+1G>T)
| |
1 | g.115033526T>A | CA341755447 | TSHB | c.162+2T>A (n.162+2T>A)
| |
1 | g.115033526T>C | CA341755449 | TSHB | c.162+2T>C (n.162+2T>C)
| |
1 | g.115033526T>G | CA341755450 | TSHB | c.162+2T>G (n.162+2T>G)
| |
1 | g.115033527A= | CA1190425242 | TSHB | c.162+3A= (n.162+3A=)
| |
1 | g.115033527A>G | CA29083579 | TSHB | c.162+3A>G (n.162+3A>G)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.115033528T>A | CA2745142338 | TSHB | c.162+4T>A (n.162+4T>A)
| |
1 | g.115033528T>C | CA1022538 | TSHB | c.162+4T>C (n.162+4T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.115033528T= | CA1190425243 | TSHB | c.162+4T= (n.162+4T=)
| |
1 | g.115033529G>A | CA29083587 | TSHB | c.162+5G>A (n.162+5G>A)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.115033529G= | CA1190425244 | TSHB | c.162+5G= (n.162+5G=)
| |
1 | g.115033530T>A | CA2574036559 | TSHB | c.162+6T>A (n.162+6T>A)
| |
1 | g.115033530T>C | CA2647270348 | TSHB | c.162+6T>C (n.162+6T>C)
| gnomAD v4 |
1 | g.115033531A= | CA1190425245 | TSHB | c.162+7A= (n.162+7A=)
| |
1 | g.115033531A>C | CA1190425246 | TSHB | c.162+7A>C (n.162+7A>C)
| dbSNP |
1 | g.115033531A>G | CA2647270349 | TSHB | c.162+7A>G (n.162+7A>G)
| gnomAD v4 |
1 | g.115033532G>A | CA885865292 | TSHB | c.162+8G>A (n.162+8G>A)
| dbSNP |
1 | g.115033532G>C | CA2647270350 | TSHB | c.162+8G>C (n.162+8G>C)
| gnomAD v4 |
1 | g.115033532G= | CA1190425247 | TSHB | c.162+8G= (n.162+8G=)
| |
1 | g.115033534T>A | CA2647270351 | TSHB | c.162+10T>A (n.162+10T>A)
| gnomAD v4 |
1 | g.115033534T>C | CA2647270352 | TSHB | c.162+10T>C (n.162+10T>C)
| gnomAD v4 |
1 | g.115033534T>G | CA2508018943 | TSHB | c.162+10T>G (n.162+10T>G)
| |
1 | g.115033535C>A | CA2647270353 | TSHB | c.162+11C>A (n.162+11C>A)
| gnomAD v4 |
1 | g.115033536A>C | CA2647270354 | TSHB | c.162+12A>C (n.162+12A>C)
| gnomAD v4 |
1 | g.115033537T>C | CA1190425249 | TSHB | c.162+13T>C (n.162+13T>C)
| dbSNP |
1 | g.115033537T= | CA1190425248 | TSHB | c.162+13T= (n.162+13T=)
| |
1 | g.115033538_115033539del | CA2512041889 | TSHB | c.162+14_162+15del (n.162+14_162+15del)
| |
1 | g.115033538G>A | CA2647270355 | TSHB | c.162+14G>A (n.162+14G>A)
| gnomAD v4 |
1 | g.115033538G>T | CA2524010931 | TSHB | c.162+14G>T (n.162+14G>T)
| |
1 | g.115033539T>A | CA1190425250 | TSHB | c.162+15T>A (n.162+15T>A)
| dbSNP |
1 | g.115033539T>C | CA525631187 | TSHB | c.162+15T>C (n.162+15T>C)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.115033539T= | CA1190425251 | TSHB | c.162+15T= (n.162+15T=)
| |
1 | g.115033540C>A | CA1190425252 | TSHB | c.162+16C>A (n.162+16C>A)
| dbSNP gnomAD v4 |
1 | g.115033540C= | CA1143893911 | TSHB | c.162+16C= (n.162+16C=)
| |
1 | g.115033540C>T | CA1022539 | TSHB | c.162+16C>T (n.162+16C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.115033541A= | CA1146470628 | TSHB | c.162+17A= (n.162+17A=)
| |
1 | g.115033541A>G | CA1022540 | TSHB | c.162+17A>G (n.162+17A>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.115033541A>T | CA2549098995 | TSHB | c.162+17A>T (n.162+17A>T)
| |
1 | g.115033542C>G | CA2538835979 | TSHB | c.162+18C>G (n.162+18C>G)
| |
1 | g.115033542C>T | CA2739275197 | TSHB | c.162+18C>T (n.162+18C>T)
| ClinVar |
1 | g.115033545C>A | CA2647270356 | TSHB | c.162+21C>A (n.162+21C>A)
| gnomAD v4 |
1 | g.115033545C>T | CA2740174369 | TSHB | c.162+21C>T (n.162+21C>T)
| |
1 | g.115033546T>C | CA2647270357 | TSHB | c.162+22T>C (n.162+22T>C)
| gnomAD v4 |
1 | g.115033548_115033549del | CA2830534855 | TSHB | c.162+24_162+25del (n.162+24_162+25del)
| |
1 | g.115033549_115033550insCAG | CA2830534994 | TSHB | c.162+25_162+26insCAG (n.162+25_162+26insCAG)
| |
1 | g.115033550G>A | CA2521949211 | TSHB | c.162+26G>A (n.162+26G>A)
| |
1 | g.115033551G>C | CA525631188 | TSHB | c.162+27G>C (n.162+27G>C)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.115033551G= | CA1190425253 | TSHB | c.162+27G= (n.162+27G=)
| |
1 | g.115033551G>T | CA2647270358 | TSHB | c.162+27G>T (n.162+27G>T)
| gnomAD v4 |
1 | g.115033552C>A | CA2647270359 | TSHB | c.162+28C>A (n.162+28C>A)
| gnomAD v4 |
1 | g.115033552C= | CA1190425255 | TSHB | c.162+28C= (n.162+28C=)
| |
1 | g.115033552C>G | CA1022541 | TSHB | c.162+28C>G (n.162+28C>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.115033552C>T | CA1006029986 | TSHB | c.162+28C>T (n.162+28C>T)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.115033552_115033553delinsCT | CA1190425254 | TSHB | c.162+28_162+29delinsCT (n.162+28_162+29delinsCT)
| |
1 | g.115033553del | CA525631189 | TSHB | c.162+29del (n.162+29del)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.115033553T>A | CA2647270360 | TSHB | c.162+29T>A (n.162+29T>A)
| gnomAD v4 |
1 | g.115033553T>C | CA1022542 | TSHB | c.162+29T>C (n.162+29T>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.115033553T>G | CA2647270361 | TSHB | c.162+29T>G (n.162+29T>G)
| gnomAD v4 |
1 | g.115033553T= | CA1149110084 | TSHB | c.162+29T= (n.162+29T=)
| |
1 | g.115033554del | CA2830535001 | TSHB | c.162+30del (n.162+30del)
| |
1 | g.115033554G>A | CA1022543 | TSHB | c.162+30G>A (n.162+30G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.115033554G>C | CA2581739522 | TSHB | c.162+30G>C (n.162+30G>C)
| |
1 | g.115033554G= | CA1140416022 | TSHB | c.162+30G= (n.162+30G=)
| |
1 | g.115033554G>T | CA2581739523 | TSHB | c.162+30G>T (n.162+30G>T)
| |
1 | g.115033555T>A | CA2535536178 | TSHB | c.162+31T>A (n.162+31T>A)
| gnomAD v4 |
1 | g.115033555T>C | CA29083647 | TSHB | c.162+31T>C (n.162+31T>C)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.115033555T= | CA1145125384 | TSHB | c.162+31T= (n.162+31T=)
| |
1 | g.115033557A>T | CA2830535002 | TSHB | c.162+33A>T (n.162+33A>T)
| |
1 | g.115033558A>G | CA2647270362 | TSHB | c.162+34A>G (n.162+34A>G)
| gnomAD v4 |
1 | g.115033558_115033559insG | CA2647270364 | TSHB | c.162+34_162+35insG (n.162+34_162+35insG)
| gnomAD v4 |
1 | g.115033559T>A | CA1022544 | TSHB | c.162+35T>A (n.162+35T>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.115033559T>G | CA2647270363 | TSHB | c.162+35T>G (n.162+35T>G)
| gnomAD v4 |
1 | g.115033559T= | CA1190425256 | TSHB | c.162+35T= (n.162+35T=)
| |
1 | g.115033560T>A | CA2647270366 | TSHB | c.162+36T>A (n.162+36T>A)
| gnomAD v4 |
1 | g.115033564_115033565del | CA2647270365 | TSHB | c.162+40_162+41del (n.162+40_162+41del)
| gnomAD v4 |
1 | g.115033561A>G | CA2574036560 | TSHB | c.162+37A>G (n.162+37A>G)
| gnomAD v4 |
1 | g.115033561_115033562insGA | CA2563990448 | TSHB | c.162+37_162+38insGA (n.162+37_162+38insGA)
| |
1 | g.115033562T>C | CA1022545 | TSHB | c.162+38T>C (n.162+38T>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.115033562T>G | CA2554111607 | TSHB | c.162+38T>G (n.162+38T>G)
| |
1 | g.115033562T= | CA1143406612 | TSHB | c.162+38T= (n.162+38T=)
| |