20 | g.23049259_23049349del | CA2652141672 | THBD | c.158_248del (p.Asp53AlafsTer?)
| gnomAD v4 |
20 | g.23049288_23049289delinsAG | CA2355681498 | THBD | c.216_217delinsCT (p.Ser72=)
| |
20 | g.23049289G>A | CA510161088 | THBD | c.216C>T (p.Ser72=)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.23049289G>C | CA510161087 | THBD | c.216C>G (p.Ser72=)
| |
20 | g.23049289G= | CA2355681500 | THBD | c.216C= (p.Ser72=)
| |
20 | g.23049289G>T | CA510161086 | THBD | c.216C>A (p.Ser72=)
| gnomAD v4 |
20 | g.23049290del | CA2355681499 | THBD | c.216del (p.Leu73CysfsTer3)
| dbSNP |
20 | g.23049290G>A | CA408408143 | THBD | c.215C>T (p.Ser72Phe)
| dbSNP gnomAD v4 |
20 | g.23049290G>C | CA408408144 | THBD | c.215C>G (p.Ser72Cys)
| |
20 | g.23049290G= | CA2355681501 | THBD | c.215C= (p.Ser72=)
| |
20 | g.23049290G>T | CA408408145 | THBD | c.215C>A (p.Ser72Tyr)
| gnomAD v4 |
20 | g.23049291A>C | CA408408146 | THBD | c.214T>G (p.Ser72Ala)
| |
20 | g.23049291A>G | CA408408147 | THBD | c.214T>C (p.Ser72Pro)
| gnomAD v4 |
20 | g.23049291A>T | CA408408148 | THBD | c.214T>A (p.Ser72Thr)
| |
20 | g.23049292A>C | CA408408149 | THBD | c.213T>G (p.Ile71Met)
| |
20 | g.23049292A>G | CA510161092 | THBD | c.213T>C (p.Ile71=)
| |
20 | g.23049292A>T | CA510161093 | THBD | c.213T>A (p.Ile71=)
| |
20 | g.23049293A>C | CA408408152 | THBD | c.212T>G (p.Ile71Ser)
| |
20 | g.23049293A>G | CA408408151 | THBD | c.212T>C (p.Ile71Thr)
| |
20 | g.23049293A>T | CA408408150 | THBD | c.212T>A (p.Ile71Asn)
| |
20 | g.23049294T>A | CA9787771 | THBD | c.211A>T (p.Ile71Phe)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23049294T>C | CA408408154 | THBD | c.211A>G (p.Ile71Val)
| dbSNP |
20 | g.23049294T>G | CA408408153 | THBD | c.211A>C (p.Ile71Leu)
| |
20 | g.23049294T= | CA2355681502 | THBD | c.211A= (p.Ile71=)
| |
20 | g.23049295G>A | CA510161099 | THBD | c.210C>T (p.Val70=)
| |
20 | g.23049295G>C | CA510161100 | THBD | c.210C>G (p.Val70=)
| |
20 | g.23049295G= | CA2355681503 | THBD | c.210C= (p.Val70=)
| |
20 | g.23049295G>T | CA510161101 | THBD | c.210C>A (p.Val70=)
| dbSNP gnomAD v4 |
20 | g.23049296A>C | CA408408155 | THBD | c.209T>G (p.Val70Gly)
| |
20 | g.23049296A>G | CA408408156 | THBD | c.209T>C (p.Val70Ala)
| gnomAD v4 |
20 | g.23049296A>T | CA408408157 | THBD | c.209T>A (p.Val70Asp)
| |
20 | g.23049297C>A | CA408408158 | THBD | c.208G>T (p.Val70Phe)
| gnomAD v4 |
20 | g.23049297C>G | CA408408159 | THBD | c.208G>C (p.Val70Leu)
| |
20 | g.23049297C>T | CA408408160 | THBD | c.208G>A (p.Val70Ile)
| |
20 | g.23049298A= | CA2355681504 | THBD | c.207T= (p.Asp69=)
| |
20 | g.23049298A>C | CA408408161 | THBD | c.207T>G (p.Asp69Glu)
| |
20 | g.23049298A>G | CA510161104 | THBD | c.207T>C (p.Asp69=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23049298A>T | CA408408162 | THBD | c.207T>A (p.Asp69Glu)
| |
20 | g.23049299T>A | CA408408163 | THBD | c.206A>T (p.Asp69Val)
| gnomAD v4 |
20 | g.23049299T>C | CA408408164 | THBD | c.206A>G (p.Asp69Gly)
| |
20 | g.23049299T>G | CA408408165 | THBD | c.206A>C (p.Asp69Ala)
| |
20 | g.23049300C>A | CA408408168 | THBD | c.205G>T (p.Asp69Tyr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23049300C= | CA2355681505 | THBD | c.205G= (p.Asp69=)
| |
20 | g.23049300C>G | CA408408166 | THBD | c.205G>C (p.Asp69His)
| |
20 | g.23049300C>T | CA408408167 | THBD | c.205G>A (p.Asp69Asn)
| ClinVar dbSNP gnomAD v4 |
20 | g.23049301G>A | CA9787772 | THBD | c.204C>T (p.Ala68=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.23049301G>C | CA510161106 | THBD | c.204C>G (p.Ala68=)
| ClinVar dbSNP gnomAD v4 |
20 | g.23049301G= | CA2355681506 | THBD | c.204C= (p.Ala68=)
| |
20 | g.23049301G>T | CA313552368 | THBD | c.204C>A (p.Ala68=)
| dbSNP gnomAD v4 |
20 | g.23049302del | CA2652141673 | THBD | c.204del (p.Asp69MetfsTer7)
| gnomAD v4 |
20 | g.23049302G>A | CA408408169 | THBD | c.203C>T (p.Ala68Val)
| gnomAD v4 |
20 | g.23049302G>C | CA408408170 | THBD | c.203C>G (p.Ala68Gly)
| |
20 | g.23049302G>T | CA408408171 | THBD | c.203C>A (p.Ala68Asp)
| |
20 | g.23049303C>A | CA408408172 | THBD | c.202G>T (p.Ala68Ser)
| gnomAD v4 |
20 | g.23049303C>G | CA408408173 | THBD | c.202G>C (p.Ala68Pro)
| |
20 | g.23049303C>T | CA408408174 | THBD | c.202G>A (p.Ala68Thr)
| gnomAD v4 |
20 | g.23049304A>C | CA510161107 | THBD | c.201T>G (p.Ala67=)
| |
20 | g.23049304A>G | CA510161108 | THBD | c.201T>C (p.Ala67=)
| gnomAD v4 |
20 | g.23049304A>T | CA510161109 | THBD | c.201T>A (p.Ala67=)
| |
20 | g.23049305G>A | CA408408175 | THBD | c.200C>T (p.Ala67Val)
| ClinVar gnomAD v4 |
20 | g.23049305G>C | CA408408176 | THBD | c.200C>G (p.Ala67Gly)
| |
20 | g.23049305G= | CA2355681507 | THBD | c.200C= (p.Ala67=)
| |
20 | g.23049305G>T | CA9787773 | THBD | c.200C>A (p.Ala67Asp)
| dbSNP ExAC gnomAD v4 |
20 | g.23049305_23049306delinsGC | CA2355681508 | THBD | c.199_200delinsGC (p.Ala67=)
| |
20 | g.23049306C>A | CA408408178 | THBD | c.199G>T (p.Ala67Ser)
| gnomAD v4 |
20 | g.23049306C>G | CA408408179 | THBD | c.199G>C (p.Ala67Pro)
| dbSNP gnomAD v4 |
20 | g.23049306C>T | CA408408177 | THBD | c.199G>A (p.Ala67Thr)
| gnomAD v4 |
20 | g.23049307del | CA742235565 | THBD | c.199del (p.Ala67LeufsTer9)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.23049307C>A | CA510161110 | THBD | c.198G>T (p.Val66=)
| gnomAD v4 |
20 | g.23049307C>G | CA510161111 | THBD | c.198G>C (p.Val66=)
| |
20 | g.23049307C>T | CA510161112 | THBD | c.198G>A (p.Val66=)
| |
20 | g.23049308A>C | CA408408180 | THBD | c.197T>G (p.Val66Gly)
| |
20 | g.23049308A>G | CA408408181 | THBD | c.197T>C (p.Val66Ala)
| gnomAD v4 |
20 | g.23049308A>T | CA408408182 | THBD | c.197T>A (p.Val66Glu)
| |
20 | g.23049309C>A | CA408408183 | THBD | c.196G>T (p.Val66Leu)
| gnomAD v4 |
20 | g.23049309C= | CA2355681509 | THBD | c.196G= (p.Val66=)
| |
20 | g.23049309C>G | CA408408184 | THBD | c.196G>C (p.Val66Leu)
| gnomAD v4 |
20 | g.23049309C>T | CA408408185 | THBD | c.196G>A (p.Val66Met)
| dbSNP gnomAD v4 |
20 | g.23049310C>A | CA510161113 | THBD | c.195G>T (p.Ser65=)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.23049310C= | CA2355681510 | THBD | c.195G= (p.Ser65=)
| |
20 | g.23049310C>G | CA510161115 | THBD | c.195G>C (p.Ser65=)
| gnomAD v4 |
20 | g.23049310C>T | CA510161114 | THBD | c.195G>A (p.Ser65=)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.23049311G>A | CA408408186 | THBD | c.194C>T (p.Ser65Leu)
| dbSNP gnomAD v4 |
20 | g.23049311G>C | CA408408187 | THBD | c.194C>G (p.Ser65Trp)
| |
20 | g.23049311G= | CA2355681511 | THBD | c.194C= (p.Ser65=)
| |
20 | g.23049311G>T | CA408408188 | THBD | c.194C>A (p.Ser65Ter)
| gnomAD v4 |
20 | g.23049312A>C | CA408408189 | THBD | c.193T>G (p.Ser65Ala)
| |
20 | g.23049312A>G | CA408408190 | THBD | c.193T>C (p.Ser65Pro)
| |
20 | g.23049312A>T | CA408408191 | THBD | c.193T>A (p.Ser65Thr)
| |
20 | g.23049313G>A | CA510161116 | THBD | c.192C>T (p.Ser64=)
| gnomAD v4 |
20 | g.23049313G>C | CA510161117 | THBD | c.192C>G (p.Ser64=)
| |
20 | g.23049313G>T | CA510161118 | THBD | c.192C>A (p.Ser64=)
| |
20 | g.23049314G>A | CA408408193 | THBD | c.191C>T (p.Ser64Phe)
| gnomAD v4 |
20 | g.23049314G>C | CA408408194 | THBD | c.191C>G (p.Ser64Cys)
| gnomAD v4 |
20 | g.23049314G>T | CA408408192 | THBD | c.191C>A (p.Ser64Tyr)
| gnomAD v4 |
20 | g.23049315A>C | CA408408195 | THBD | c.190T>G (p.Ser64Ala)
| |
20 | g.23049315A>G | CA408408196 | THBD | c.190T>C (p.Ser64Pro)
| |
20 | g.23049315A>T | CA408408197 | THBD | c.190T>A (p.Ser64Thr)
| |
20 | g.23049316G>A | CA510161119 | THBD | c.189C>T (p.Arg63=)
| gnomAD v4 |
20 | g.23049316G>C | CA510161120 | THBD | c.189C>G (p.Arg63=)
| |
20 | g.23049316G>T | CA510161121 | THBD | c.189C>A (p.Arg63=)
| gnomAD v4 |
20 | g.23049317C>A | CA408408198 | THBD | c.188G>T (p.Arg63Leu)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.23049317C= | CA2355681512 | THBD | c.188G= (p.Arg63=)
| |
20 | g.23049317C>G | CA408408199 | THBD | c.188G>C (p.Arg63Pro)
| gnomAD v4 |
20 | g.23049317C>T | CA408408200 | THBD | c.188G>A (p.Arg63His)
| gnomAD v4 |
20 | g.23049318G>A | CA408408201 | THBD | c.187C>T (p.Arg63Cys)
| gnomAD v4 |
20 | g.23049318G>C | CA408408203 | THBD | c.187C>G (p.Arg63Gly)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.23049318G= | CA2355681513 | THBD | c.187C= (p.Arg63=)
| |
20 | g.23049318G>T | CA408408202 | THBD | c.187C>A (p.Arg63Ser)
| gnomAD v4 |
20 | g.23049319C>A | CA510161122 | THBD | c.186G>T (p.Val62=)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.23049319C= | CA2355681514 | THBD | c.186G= (p.Val62=)
| |
20 | g.23049319C>G | CA510161123 | THBD | c.186G>C (p.Val62=)
| |
20 | g.23049319C>T | CA9787774 | THBD | c.186G>A (p.Val62=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23049320A>C | CA408408204 | THBD | c.185T>G (p.Val62Gly)
| |
20 | g.23049320A>G | CA408408205 | THBD | c.185T>C (p.Val62Ala)
| gnomAD v4 |
20 | g.23049320A>T | CA408408206 | THBD | c.185T>A (p.Val62Glu)
| |
20 | g.23049321C>A | CA408408208 | THBD | c.184G>T (p.Val62Leu)
| ClinVar |
20 | g.23049321C= | CA2355681515 | THBD | c.184G= (p.Val62=)
| |
20 | g.23049321C>G | CA408408207 | THBD | c.184G>C (p.Val62Leu)
| |
20 | g.23049321C>T | CA9787775 | THBD | c.184G>A (p.Val62Met)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23049322T>A | CA510161124 | THBD | c.183A>T (p.Thr61=)
| |
20 | g.23049322T>C | CA510161125 | THBD | c.183A>G (p.Thr61=)
| |
20 | g.23049322T>G | CA510161126 | THBD | c.183A>C (p.Thr61=)
| |
20 | g.23049323G>A | CA408408209 | THBD | c.182C>T (p.Thr61Ile)
| gnomAD v4 COSMIC |
20 | g.23049323G>C | CA408408211 | THBD | c.182C>G (p.Thr61Arg)
| |
20 | g.23049323G>T | CA408408210 | THBD | c.182C>A (p.Thr61Lys)
| gnomAD v4 |
20 | g.23049324T>A | CA9787776 | THBD | c.181A>T (p.Thr61Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.23049324T>C | CA408408213 | THBD | c.181A>G (p.Thr61Ala)
| gnomAD v4 |
20 | g.23049324T>G | CA408408212 | THBD | c.181A>C (p.Thr61Pro)
| |
20 | g.23049324T= | CA2355681516 | THBD | c.181A= (p.Thr61=)
| |
20 | g.23049325C>A | CA408408214 | THBD | c.180G>T (p.Met60Ile)
| gnomAD v4 |
20 | g.23049325C>G | CA408408215 | THBD | c.180G>C (p.Met60Ile)
| |
20 | g.23049325C>T | CA408408216 | THBD | c.180G>A (p.Met60Ile)
| ClinVar dbSNP gnomAD v4 |
20 | g.23049326A= | CA2355681517 | THBD | c.179T= (p.Met60=)
| |
20 | g.23049326A>C | CA408408217 | THBD | c.179T>G (p.Met60Arg)
| |
20 | g.23049326A>G | CA408408218 | THBD | c.179T>C (p.Met60Thr)
| gnomAD v4 |
20 | g.23049326A>T | CA9787777 | THBD | c.179T>A (p.Met60Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.23049327T>A | CA408408219 | THBD | c.178A>T (p.Met60Leu)
| |
20 | g.23049327T>C | CA408408220 | THBD | c.178A>G (p.Met60Val)
| dbSNP gnomAD v4 |
20 | g.23049327T>G | CA408408221 | THBD | c.178A>C (p.Met60Leu)
| |
20 | g.23049327T= | CA2355681518 | THBD | c.178A= (p.Met60=)
| |
20 | g.23049328T>A | CA510161127 | THBD | c.177A>T (p.Leu59=)
| |
20 | g.23049328T>C | CA9787778 | THBD | c.177A>G (p.Leu59=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23049328T>G | CA510161128 | THBD | c.177A>C (p.Leu59=)
| |
20 | g.23049328T= | CA2355681519 | THBD | c.177A= (p.Leu59=)
| |
20 | g.23049329A>C | CA408408224 | THBD | c.176T>G (p.Leu59Arg)
| |
20 | g.23049329A>G | CA408408223 | THBD | c.176T>C (p.Leu59Pro)
| |
20 | g.23049329A>T | CA408408222 | THBD | c.176T>A (p.Leu59Gln)
| |
20 | g.23049330G>A | CA510161129 | THBD | c.175C>T (p.Leu59=)
| gnomAD v4 |
20 | g.23049330G>C | CA408408225 | THBD | c.175C>G (p.Leu59Val)
| gnomAD v4 |
20 | g.23049330G>T | CA408408226 | THBD | c.175C>A (p.Leu59Ile)
| gnomAD v4 |
20 | g.23049331G>A | CA313552429 | THBD | c.174C>T (p.His58=)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.23049331G>C | CA408408227 | THBD | c.174C>G (p.His58Gln)
| |
20 | g.23049331G= | CA2355681520 | THBD | c.174C= (p.His58=)
| |
20 | g.23049331G>T | CA408408228 | THBD | c.174C>A (p.His58Gln)
| gnomAD v4 |
20 | g.23049332T>A | CA408408229 | THBD | c.173A>T (p.His58Leu)
| gnomAD v4 |
20 | g.23049332T>C | CA408408230 | THBD | c.173A>G (p.His58Arg)
| |
20 | g.23049332T>G | CA408408231 | THBD | c.173A>C (p.His58Pro)
| |
20 | g.23049333G>A | CA9787779 | THBD | c.172C>T (p.His58Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23049333G>C | CA408408232 | THBD | c.172C>G (p.His58Asp)
| |
20 | g.23049333G= | CA2355681521 | THBD | c.172C= (p.His58=)
| |
20 | g.23049333G>T | CA408408233 | THBD | c.172C>A (p.His58Asn)
| gnomAD v4 |
20 | g.23049334G>A | CA510161130 | THBD | c.171C>T (p.Gly57=)
| gnomAD v4 |
20 | g.23049334G>C | CA510161131 | THBD | c.171C>G (p.Gly57=)
| |
20 | g.23049334G= | CA2355681522 | THBD | c.171C= (p.Gly57=)
| |
20 | g.23049334G>T | CA9787780 | THBD | c.171C>A (p.Gly57=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23049335C>A | CA408408235 | THBD | c.170G>T (p.Gly57Val)
| gnomAD v4 |
20 | g.23049335C= | CA2355681523 | THBD | c.170G= (p.Gly57=)
| |
20 | g.23049335C>G | CA408408236 | THBD | c.170G>C (p.Gly57Ala)
| |
20 | g.23049335C>T | CA408408234 | THBD | c.170G>A (p.Gly57Asp)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.23049338del | CA2652141674 | THBD | c.170del (p.Gly57AlafsTer3)
| gnomAD v4 |
20 | g.23049336C>A | CA408408237 | THBD | c.169G>T (p.Gly57Cys)
| gnomAD v4 |
20 | g.23049336C= | CA2355681524 | THBD | c.169G= (p.Gly57=)
| |
20 | g.23049336C>G | CA408408238 | THBD | c.169G>C (p.Gly57Arg)
| |
20 | g.23049336C>T | CA408408239 | THBD | c.169G>A (p.Gly57Ser)
| dbSNP gnomAD v2 |
20 | g.23049337C>A | CA510161132 | THBD | c.168G>T (p.Arg56=)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.23049337C= | CA2355681525 | THBD | c.168G= (p.Arg56=)
| |
20 | g.23049337C>G | CA510161133 | THBD | c.168G>C (p.Arg56=)
| |
20 | g.23049337C>T | CA9787781 | THBD | c.168G>A (p.Arg56=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.23049338C>A | CA408408240 | THBD | c.167G>T (p.Arg56Leu)
| gnomAD v4 |
20 | g.23049338C= | CA2355681526 | THBD | c.167G= (p.Arg56=)
| |
20 | g.23049338C>G | CA408408241 | THBD | c.167G>C (p.Arg56Pro)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.23049338C>T | CA408408242 | THBD | c.167G>A (p.Arg56Gln)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.23049339G>A | CA9787782 | THBD | c.166C>T (p.Arg56Trp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.23049339G>C | CA408408243 | THBD | c.166C>G (p.Arg56Gly)
| |
20 | g.23049339G= | CA2355681527 | THBD | c.166C= (p.Arg56=)
| |
20 | g.23049339G>T | CA510161134 | THBD | c.166C>A (p.Arg56=)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.23049340C>A | CA510161135 | THBD | c.165G>T (p.Leu55=)
| gnomAD v4 |
20 | g.23049340C>G | CA510161136 | THBD | c.165G>C (p.Leu55=)
| |
20 | g.23049340C>T | CA510161137 | THBD | c.165G>A (p.Leu55=)
| gnomAD v4 |
20 | g.23049341A= | CA2355681528 | THBD | c.164T= (p.Leu55=)
| |
20 | g.23049341A>C | CA408408244 | THBD | c.164T>G (p.Leu55Arg)
| gnomAD v4 |
20 | g.23049341A>G | CA408408245 | THBD | c.164T>C (p.Leu55Pro)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.23049341A>T | CA408408246 | THBD | c.164T>A (p.Leu55Gln)
| gnomAD v4 |
20 | g.23049342G>A | CA510161138 | THBD | c.163C>T (p.Leu55=)
| gnomAD v4 |
20 | g.23049342G>C | CA408408248 | THBD | c.163C>G (p.Leu55Val)
| |
20 | g.23049342G>T | CA408408247 | THBD | c.163C>A (p.Leu55Met)
| gnomAD v4 |
20 | g.23049343T>A | CA510161139 | THBD | c.162A>T (p.Gly54=)
| |
20 | g.23049343T>C | CA510161140 | THBD | c.162A>G (p.Gly54=)
| gnomAD v4 |
20 | g.23049343T>G | CA510161141 | THBD | c.162A>C (p.Gly54=)
| |
20 | g.23049344C>A | CA408408249 | THBD | c.161G>T (p.Gly54Val)
| gnomAD v4 |
20 | g.23049344C= | CA2355681529 | THBD | c.161G= (p.Gly54=)
| |
20 | g.23049344C>G | CA9787783 | THBD | c.161G>C (p.Gly54Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.23049344C>T | CA408408250 | THBD | c.161G>A (p.Gly54Glu)
| |
20 | g.23049345C>A | CA408408251 | THBD | c.160G>T (p.Gly54Ter)
| gnomAD v4 |
20 | g.23049345C= | CA2355681530 | THBD | c.160G= (p.Gly54=)
| |
20 | g.23049345C>G | CA408408252 | THBD | c.160G>C (p.Gly54Arg)
| |
20 | g.23049345C>T | CA408408253 | THBD | c.160G>A (p.Gly54Arg)
| dbSNP gnomAD v4 COSMIC |
20 | g.23049346G>A | CA510161142 | THBD | c.159C>T (p.Asp53=)
| gnomAD v4 |
20 | g.23049346G>C | CA408408254 | THBD | c.159C>G (p.Asp53Glu)
| |
20 | g.23049346G>T | CA408408255 | THBD | c.159C>A (p.Asp53Glu)
| gnomAD v4 |
20 | g.23049347T>A | CA408408256 | THBD | c.158A>T (p.Asp53Val)
| |
20 | g.23049347T>C | CA256541 | THBD | c.158A>G (p.Asp53Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23049347T>G | CA408408257 | THBD | c.158A>C (p.Asp53Ala)
| |
20 | g.23049347T= | CA2355681531 | THBD | c.158A= (p.Asp53=)
| |
20 | g.23049348C>A | CA408408258 | THBD | c.157G>T (p.Asp53Tyr)
| |
20 | g.23049348C= | CA2355681532 | THBD | c.157G= (p.Asp53=)
| |
20 | g.23049348C>G | CA408408259 | THBD | c.157G>C (p.Asp53His)
| |
20 | g.23049348C>T | CA313552462 | THBD | c.157G>A (p.Asp53Asn)
| ClinVar dbSNP gnomAD v4 |
20 | g.23049349G>A | CA510161143 | THBD | c.156C>T (p.Cys52=)
| gnomAD v4 |
20 | g.23049349G>C | CA408408260 | THBD | c.156C>G (p.Cys52Trp)
| |
20 | g.23049349G>T | CA408408261 | THBD | c.156C>A (p.Cys52Ter)
| gnomAD v4 |
20 | g.23049350C>A | CA408408262 | THBD | c.155G>T (p.Cys52Phe)
| gnomAD v4 |
20 | g.23049350C>G | CA408408263 | THBD | c.155G>C (p.Cys52Ser)
| |
20 | g.23049350C>T | CA408408264 | THBD | c.155G>A (p.Cys52Tyr)
| |
20 | g.23049351A>C | CA408408265 | THBD | c.154T>G (p.Cys52Gly)
| |
20 | g.23049351A>G | CA408408266 | THBD | c.154T>C (p.Cys52Arg)
| gnomAD v4 |
20 | g.23049351A>T | CA408408267 | THBD | c.154T>A (p.Cys52Ser)
| |
20 | g.23049352G>A | CA510161144 | THBD | c.153C>T (p.Ile51=)
| |
20 | g.23049352G>C | CA408408268 | THBD | c.153C>G (p.Ile51Met)
| |
20 | g.23049352G= | CA2355681533 | THBD | c.153C= (p.Ile51=)
| |
20 | g.23049352G>T | CA510161145 | THBD | c.153C>A (p.Ile51=)
| ClinVar dbSNP gnomAD v4 |
20 | g.23049353A= | CA2355681534 | THBD | c.152T= (p.Ile51=)
| |
20 | g.23049353A>C | CA408408270 | THBD | c.152T>G (p.Ile51Ser)
| |
20 | g.23049353A>G | CA408408269 | THBD | c.152T>C (p.Ile51Thr)
| |
20 | g.23049353A>T | CA9787784 | THBD | c.152T>A (p.Ile51Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.23049354T>A | CA408408271 | THBD | c.151A>T (p.Ile51Phe)
| |
20 | g.23049354T>C | CA408408272 | THBD | c.151A>G (p.Ile51Val)
| |
20 | g.23049354T>G | CA408408273 | THBD | c.151A>C (p.Ile51Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23049354T= | CA2355681535 | THBD | c.151A= (p.Ile51=)
| |
20 | g.23049355C>A | CA408408274 | THBD | c.150G>T (p.Gln50His)
| gnomAD v4 |
20 | g.23049355C= | CA2355681536 | THBD | c.150G= (p.Gln50=)
| |
20 | g.23049355C>G | CA408408275 | THBD | c.150G>C (p.Gln50His)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.23049355C>T | CA510161146 | THBD | c.150G>A (p.Gln50=)
| |
20 | g.23049356T>A | CA408408276 | THBD | c.149A>T (p.Gln50Leu)
| gnomAD v4 |
20 | g.23049356T>C | CA408408278 | THBD | c.149A>G (p.Gln50Arg)
| |
20 | g.23049356T>G | CA408408277 | THBD | c.149A>C (p.Gln50Pro)
| |
20 | g.23049357G>A | CA408408279 | THBD | c.148C>T (p.Gln50Ter)
| |
20 | g.23049357G>C | CA408408280 | THBD | c.148C>G (p.Gln50Glu)
| |
20 | g.23049357G>T | CA408408281 | THBD | c.148C>A (p.Gln50Lys)
| gnomAD v4 |
20 | g.23049358A>C | CA408408282 | THBD | c.147T>G (p.Ser49Arg)
| |
20 | g.23049358A>G | CA510161147 | THBD | c.147T>C (p.Ser49=)
| gnomAD v4 |
20 | g.23049358A>T | CA408408283 | THBD | c.147T>A (p.Ser49Arg)
| |
20 | g.23049359C>A | CA408408284 | THBD | c.146G>T (p.Ser49Ile)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23049359C= | CA2355681537 | THBD | c.146G= (p.Ser49=)
| |
20 | g.23049359C>G | CA408408285 | THBD | c.146G>C (p.Ser49Thr)
| |
20 | g.23049359C>T | CA9787785 | THBD | c.146G>A (p.Ser49Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23049360T>A | CA408408286 | THBD | c.145A>T (p.Ser49Cys)
| gnomAD v4 |
20 | g.23049360T>C | CA408408287 | THBD | c.145A>G (p.Ser49Gly)
| |
20 | g.23049360T>G | CA408408288 | THBD | c.145A>C (p.Ser49Arg)
| |
20 | g.23049361G>A | CA510161149 | THBD | c.144C>T (p.Ala48=)
| gnomAD v4 |
20 | g.23049361G>C | CA510161150 | THBD | c.144C>G (p.Ala48=)
| |
20 | g.23049361G>T | CA510161148 | THBD | c.144C>A (p.Ala48=)
| gnomAD v4 |
20 | g.23049362G>A | CA408408289 | THBD | c.143C>T (p.Ala48Val)
| gnomAD v4 |
20 | g.23049362G>C | CA408408291 | THBD | c.143C>G (p.Ala48Gly)
| |
20 | g.23049362G>T | CA408408290 | THBD | c.143C>A (p.Ala48Asp)
| ClinVar dbSNP |
20 | g.23049363C>A | CA408408292 | THBD | c.142G>T (p.Ala48Ser)
| gnomAD v4 |
20 | g.23049363C>G | CA408408293 | THBD | c.142G>C (p.Ala48Pro)
| |
20 | g.23049363C>T | CA408408294 | THBD | c.142G>A (p.Ala48Thr)
| ClinVar dbSNP gnomAD v4 |
20 | g.23049364A>C | CA408408295 | THBD | c.141T>G (p.Asn47Lys)
| |
20 | g.23049364A>G | CA510161151 | THBD | c.141T>C (p.Asn47=)
| |
20 | g.23049364A>T | CA408408296 | THBD | c.141T>A (p.Asn47Lys)
| |
20 | g.23049365T>A | CA408408297 | THBD | c.140A>T (p.Asn47Ile)
| |
20 | g.23049365T>C | CA408408298 | THBD | c.140A>G (p.Asn47Ser)
| gnomAD v4 |
20 | g.23049365T>G | CA408408299 | THBD | c.140A>C (p.Asn47Thr)
| |
20 | g.23049366T>A | CA408408300 | THBD | c.139A>T (p.Asn47Tyr)
| |
20 | g.23049366T>C | CA408408301 | THBD | c.139A>G (p.Asn47Asp)
| |
20 | g.23049366T>G | CA408408302 | THBD | c.139A>C (p.Asn47His)
| |
20 | g.23049367G>A | CA510161152 | THBD | c.138C>T (p.Leu46=)
| gnomAD v4 |
20 | g.23049367G>C | CA510161153 | THBD | c.138C>G (p.Leu46=)
| |
20 | g.23049367G= | CA2355681538 | THBD | c.138C= (p.Leu46=)
| |
20 | g.23049367G>T | CA9787786 | THBD | c.138C>A (p.Leu46=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.23049369_23049371del | CA2577353605 | THBD | c.136_138del (p.Leu46del)
| |
20 | g.23049368A>C | CA408408305 | THBD | c.137T>G (p.Leu46Arg)
| |
20 | g.23049368A>G | CA408408303 | THBD | c.137T>C (p.Leu46Pro)
| gnomAD v4 |
20 | g.23049368A>T | CA408408304 | THBD | c.137T>A (p.Leu46His)
| gnomAD v2 |
20 | g.23049368_23049386delinsAGGAAGGTCGCGGGGCCCG | CA2355681539 | THBD | c.119_137delinsCGGGCCCCGCGACCTTCCT (p.Pro40=)
| |
20 | g.23049369G>A | CA408408306 | THBD | c.136C>T (p.Leu46Phe)
| gnomAD v4 |
20 | g.23049369G>C | CA408408307 | THBD | c.136C>G (p.Leu46Val)
| |
20 | g.23049369G>T | CA408408308 | THBD | c.136C>A (p.Leu46Ile)
| |
20 | g.23049371_23049388del | CA9787787 | THBD | c.119_136del (p.Pro40_Phe45del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23049370G>A | CA510161154 | THBD | c.135C>T (p.Phe45=)
| |
20 | g.23049370G>C | CA408408309 | THBD | c.135C>G (p.Phe45Leu)
| |
20 | g.23049370G>T | CA408408310 | THBD | c.135C>A (p.Phe45Leu)
| |
20 | g.23049371A>C | CA408408311 | THBD | c.134T>G (p.Phe45Cys)
| |
20 | g.23049371A>G | CA408408312 | THBD | c.134T>C (p.Phe45Ser)
| |
20 | g.23049371A>T | CA408408313 | THBD | c.134T>A (p.Phe45Tyr)
| |
20 | g.23049372A= | CA2355681540 | THBD | c.133T= (p.Phe45=)
| |
20 | g.23049372A>C | CA408408314 | THBD | c.133T>G (p.Phe45Val)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.23049372A>G | CA408408315 | THBD | c.133T>C (p.Phe45Leu)
| |
20 | g.23049372A>T | CA408408316 | THBD | c.133T>A (p.Phe45Ile)
| |
20 | g.23049373G>A | CA510161157 | THBD | c.132C>T (p.Thr44=)
| gnomAD v4 |
20 | g.23049373G>C | CA510161155 | THBD | c.132C>G (p.Thr44=)
| |
20 | g.23049373G= | CA2355681541 | THBD | c.132C= (p.Thr44=)
| |
20 | g.23049373G>T | CA510161156 | THBD | c.132C>A (p.Thr44=)
| dbSNP gnomAD v4 |
20 | g.23049374G>A | CA9787788 | THBD | c.131C>T (p.Thr44Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23049374G>C | CA408408318 | THBD | c.131C>G (p.Thr44Ser)
| |
20 | g.23049374G= | CA2355681542 | THBD | c.131C= (p.Thr44=)
| |
20 | g.23049374G>T | CA408408317 | THBD | c.131C>A (p.Thr44Asn)
| gnomAD v4 |
20 | g.23049375T>A | CA408408321 | THBD | c.130A>T (p.Thr44Ser)
| |
20 | g.23049375T>C | CA408408319 | THBD | c.130A>G (p.Thr44Ala)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.23049375T>G | CA408408320 | THBD | c.130A>C (p.Thr44Pro)
| |
20 | g.23049375T= | CA2355681543 | THBD | c.130A= (p.Thr44=)
| |
20 | g.23049376C>A | CA510161158 | THBD | c.129G>T (p.Ala43=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23049376C= | CA2355681544 | THBD | c.129G= (p.Ala43=)
| |
20 | g.23049376C>G | CA9787790 | THBD | c.129G>C (p.Ala43=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.23049376C>T | CA9787789 | THBD | c.129G>A (p.Ala43=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.23049377G>A | CA9787791 | THBD | c.128C>T (p.Ala43Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
20 | g.23049377G>C | CA408408322 | THBD | c.128C>G (p.Ala43Gly)
| |
20 | g.23049377G= | CA2355681545 | THBD | c.128C= (p.Ala43=)
| |
20 | g.23049377G>T | CA408408323 | THBD | c.128C>A (p.Ala43Glu)
| gnomAD v4 |
20 | g.23049378C>A | CA408408325 | THBD | c.127G>T (p.Ala43Ser)
| |
20 | g.23049378C= | CA2355681546 | THBD | c.127G= (p.Ala43=)
| |
20 | g.23049378C>G | CA408408324 | THBD | c.127G>C (p.Ala43Pro)
| |
20 | g.23049378C>T | CA256539 | THBD | c.127G>A (p.Ala43Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23049379G>A | CA510161159 | THBD | c.126C>T (p.Pro42=)
| gnomAD v4 |
20 | g.23049379G>C | CA510161160 | THBD | c.126C>G (p.Pro42=)
| ClinVar dbSNP gnomAD v4 |
20 | g.23049379G= | CA2355681547 | THBD | c.126C= (p.Pro42=)
| |
20 | g.23049379G>T | CA510161161 | THBD | c.126C>A (p.Pro42=)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.23049382del | CA2652141675 | THBD | c.126del (p.Ala43ArgfsTer17)
| gnomAD v4 |
20 | g.23049380G>A | CA408408326 | THBD | c.125C>T (p.Pro42Leu)
| |
20 | g.23049380G>C | CA408408327 | THBD | c.125C>G (p.Pro42Arg)
| |
20 | g.23049380G>T | CA408408328 | THBD | c.125C>A (p.Pro42His)
| gnomAD v4 |
20 | g.23049381G>A | CA408408329 | THBD | c.124C>T (p.Pro42Ser)
| gnomAD v4 |
20 | g.23049381G>C | CA408408330 | THBD | c.124C>G (p.Pro42Ala)
| |
20 | g.23049381G>T | CA408408331 | THBD | c.124C>A (p.Pro42Thr)
| gnomAD v4 |
20 | g.23049382G>A | CA510161162 | THBD | c.123C>T (p.Gly41=)
| gnomAD v4 |
20 | g.23049382G>C | CA510161164 | THBD | c.123C>G (p.Gly41=)
| |
20 | g.23049382G>T | CA510161163 | THBD | c.123C>A (p.Gly41=)
| gnomAD v4 |
20 | g.23049383C>A | CA408408332 | THBD | c.122G>T (p.Gly41Val)
| gnomAD v4 |
20 | g.23049383C= | CA2355681548 | THBD | c.122G= (p.Gly41=)
| |
20 | g.23049383C>G | CA408408333 | THBD | c.122G>C (p.Gly41Ala)
| gnomAD v4 |
20 | g.23049383C>T | CA9787792 | THBD | c.122G>A (p.Gly41Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.23049384C>A | CA408408334 | THBD | c.121G>T (p.Gly41Cys)
| gnomAD v4 COSMIC |
20 | g.23049384C>G | CA408408335 | THBD | c.121G>C (p.Gly41Arg)
| |
20 | g.23049384C>T | CA408408336 | THBD | c.121G>A (p.Gly41Ser)
| ClinVar gnomAD v4 |
20 | g.23049385C>A | CA510161165 | THBD | c.120G>T (p.Pro40=)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.23049385C= | CA2355681549 | THBD | c.120G= (p.Pro40=)
| |
20 | g.23049385C>G | CA510161166 | THBD | c.120G>C (p.Pro40=)
| gnomAD v4 |
20 | g.23049385C>T | CA510161167 | THBD | c.120G>A (p.Pro40=)
| dbSNP gnomAD v4 |
20 | g.23049386G>A | CA9787793 | THBD | c.119C>T (p.Pro40Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23049386G>C | CA408408337 | THBD | c.119C>G (p.Pro40Arg)
| |
20 | g.23049386G= | CA2355681550 | THBD | c.119C= (p.Pro40=)
| |
20 | g.23049386G>T | CA408408338 | THBD | c.119C>A (p.Pro40Gln)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.23049387G>A | CA408408339 | THBD | c.118C>T (p.Pro40Ser)
| gnomAD v4 |
20 | g.23049387G>C | CA408408340 | THBD | c.118C>G (p.Pro40Ala)
| ClinVar |
20 | g.23049387G>T | CA408408341 | THBD | c.118C>A (p.Pro40Thr)
| gnomAD v4 |
20 | g.23049388G>A | CA313552578 | THBD | c.117C>T (p.Tyr39=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23049388G>C | CA408408342 | THBD | c.117C>G (p.Tyr39Ter)
| |
20 | g.23049388G= | CA2355681551 | THBD | c.117C= (p.Tyr39=)
| |
20 | g.23049388G>T | CA408408343 | THBD | c.117C>A (p.Tyr39Ter)
| gnomAD v4 |
20 | g.23049389T>A | CA9787794 | THBD | c.116A>T (p.Tyr39Phe)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23049389T>C | CA408408345 | THBD | c.116A>G (p.Tyr39Cys)
| |
20 | g.23049389T>G | CA408408344 | THBD | c.116A>C (p.Tyr39Ser)
| |
20 | g.23049389T= | CA2355681552 | THBD | c.116A= (p.Tyr39=)
| |