WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.114402734A>T | CA2691343812 | WHRN | c.1088T>A (n.1088T>A) c.*20T>A (n.*20T>A) c.1717T>A n.2625T>A | gnomAD v4 |
| 9 | g.114402735G>A | CA590141136 | WHRN | c.1087C>T (n.1087C>T) c.*19C>T (n.*19C>T) c.1716C>T n.2624C>T | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.114402735G= | CA1873825310 | WHRN | c.1087C= (n.1087C=) c.*19C= (n.*19C=) c.1716C= n.2624C= | |
| 9 | g.114402736G>A | CA2579434551 | WHRN | c.1086C>T (n.1086C>T) c.*18C>T (n.*18C>T) c.1715C>T n.2623C>T | |
| 9 | g.114402737C>T | CA2691343818 | WHRN | c.1085G>A (n.1085G>A) c.*17G>A (n.*17G>A) c.1714G>A n.2622G>A | gnomAD v4 |
| 9 | g.114402738C= | CA1873825311 | WHRN | c.1084G= (n.1084G=) c.*16G= (n.*16G=) c.1713G= n.2621G= | |
| 9 | g.114402738C>T | CA590141138 | WHRN | c.1084G>A (n.1084G>A) c.*16G>A (n.*16G>A) c.1713G>A n.2621G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.114402741C= | CA1873825312 | WHRN | c.1081G= (n.1081G=) c.*13G= (n.*13G=) c.1710G= n.2618G= | |
| 9 | g.114402741C>T | CA5205545 | WHRN | c.1081G>A (n.1081G>A) c.*13G>A (n.*13G>A) c.1710G>A n.2618G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.114402743G>A | CA198648730 | WHRN | c.1079C>T (n.1079C>T) c.*11C>T (n.*11C>T) c.1708C>T n.2616C>T | dbSNP |
| 9 | g.114402743G= | CA1873825313 | WHRN | c.1079C= (n.1079C=) c.*11C= (n.*11C=) c.1708C= n.2616C= | |
| 9 | g.114402745C= | CA1873825314 | WHRN | c.1077G= (n.1077G=) c.*9G= (n.*9G=) c.1706G= n.2614G= | |
| 9 | g.114402745C>T | CA5205546 | WHRN | c.1077G>A (n.1077G>A) c.*9G>A (n.*9G>A) c.1706G>A n.2614G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.114402748T>C | CA2691343827 | WHRN | c.1074A>G (n.1074A>G) c.*6A>G (n.*6A>G) c.1703A>G n.2611A>G | gnomAD v4 |
| 9 | g.114402749_114402754dup | CA2579434552 | WHRN | c.1068_1073dup (n.1068_1073dup) c.2724_*5dup (n.2724_*5dup) c.1697_1702dup n.2605_2610dup c.1575_*5dup (n.1575_*5dup) c.1671_*5dup (n.1671_*5dup) c.2721_*5dup (n.2721_*5dup) c.2061_*5dup (n.2061_*5dup) c.2757_*5dup (n.2757_*5dup) c.2754_*5dup (n.2754_*5dup) c.2631_*5dup (n.2631_*5dup) c.2514_*5dup (n.2514_*5dup) c.1434_*5dup (n.1434_*5dup) | |
| 9 | g.114402750G= | CA1873825315 | WHRN | c.1072C= (n.1072C=) c.*4C= (n.*4C=) c.1701C= n.2609C= | |
| 9 | g.114402750G>T | CA590141140 | WHRN | c.1072C>A (n.1072C>A) c.*4C>A (n.*4C>A) c.1701C>A n.2609C>A | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.114402751C>A | CA590141141 | WHRN | c.1071G>T (n.1071G>T) c.*3G>T (n.*3G>T) c.1700G>T n.2608G>T | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.114402751C= | CA1873825316 | WHRN | c.1071G= (n.1071G=) c.*3G= (n.*3G=) c.1700G= n.2608G= | |
| 9 | g.114402751C>T | CA858984685 | WHRN | c.1071G>A (n.1071G>A) c.*3G>A (n.*3G>A) c.1700G>A n.2608G>A | dbSNP |
| 9 | g.114402752C= | CA1873825317 | WHRN | c.1070G= (n.1070G=) c.*2G= (n.*2G=) c.1699G= n.2607G= | |
| 9 | g.114402752C>T | CA5205547 | WHRN | c.1070G>A (n.1070G>A) c.*2G>A (n.*2G>A) c.1699G>A n.2607G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.114402753T>G | CA590141143 | WHRN | c.1069A>C (n.1069A>C) c.*1A>C (n.*1A>C) c.1698A>C n.2606A>C | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.114402753T= | CA1873825318 | WHRN | c.1069A= (n.1069A=) c.*1A= (n.*1A=) c.1698A= n.2606A= | |
| 9 | g.114402754C>A | CA374618722 | WHRN | c.1068G>T (p.Ter356Tyr) c.2724G>T (p.Ter908Tyr) c.1697G>T n.2605G>T c.1575G>T (p.Ter525Tyr) c.1671G>T (p.Ter557Tyr) c.2721G>T (p.Ter907Tyr) c.2061G>T (p.Ter687Tyr) c.2757G>T (p.Ter919Tyr) c.2754G>T (p.Ter918Tyr) c.2631G>T (p.Ter877Tyr) c.2514G>T (p.Ter838Tyr) c.1434G>T (p.Ter478Tyr) | |
| 9 | g.114402754C>G | CA374618721 | WHRN | c.1068G>C (p.Ter356Tyr) c.2724G>C (p.Ter908Tyr) c.1697G>C n.2605G>C c.1575G>C (p.Ter525Tyr) c.1671G>C (p.Ter557Tyr) c.2721G>C (p.Ter907Tyr) c.2061G>C (p.Ter687Tyr) c.2757G>C (p.Ter919Tyr) c.2754G>C (p.Ter918Tyr) c.2631G>C (p.Ter877Tyr) c.2514G>C (p.Ter838Tyr) c.1434G>C (p.Ter478Tyr) | |
| 9 | g.114402754C>T | CA466781762 | WHRN | c.1068G>A (p.Ter356=) c.2724G>A (p.Ter908=) c.1697G>A n.2605G>A c.1575G>A (p.Ter525=) c.1671G>A (p.Ter557=) c.2721G>A (p.Ter907=) c.2061G>A (p.Ter687=) c.2757G>A (p.Ter919=) c.2754G>A (p.Ter918=) c.2631G>A (p.Ter877=) c.2514G>A (p.Ter838=) c.1434G>A (p.Ter478=) | gnomAD v4 |
| 9 | g.114402755T>A | CA374618723 | WHRN | c.1067A>T (p.Ter356Leu) c.2723A>T (p.Ter908Leu) c.1696A>T n.2604A>T c.1574A>T (p.Ter525Leu) c.1670A>T (p.Ter557Leu) c.2720A>T (p.Ter907Leu) c.2060A>T (p.Ter687Leu) c.2756A>T (p.Ter919Leu) c.2753A>T (p.Ter918Leu) c.2630A>T (p.Ter877Leu) c.2513A>T (p.Ter838Leu) c.1433A>T (p.Ter478Leu) | |
| 9 | g.114402755T>C | CA198648734 | WHRN | c.1067A>G (p.Ter356Trp) c.2723A>G (p.Ter908Trp) c.1696A>G n.2604A>G c.1574A>G (p.Ter525Trp) c.1670A>G (p.Ter557Trp) c.2720A>G (p.Ter907Trp) c.2060A>G (p.Ter687Trp) c.2756A>G (p.Ter919Trp) c.2753A>G (p.Ter918Trp) c.2630A>G (p.Ter877Trp) c.2513A>G (p.Ter838Trp) c.1433A>G (p.Ter478Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.114402755T>G | CA374618724 | WHRN | c.1067A>C (p.Ter356Ser) c.2723A>C (p.Ter908Ser) c.1696A>C n.2604A>C c.1574A>C (p.Ter525Ser) c.1670A>C (p.Ter557Ser) c.2720A>C (p.Ter907Ser) c.2060A>C (p.Ter687Ser) c.2756A>C (p.Ter919Ser) c.2753A>C (p.Ter918Ser) c.2630A>C (p.Ter877Ser) c.2513A>C (p.Ter838Ser) c.1433A>C (p.Ter478Ser) | |
| 9 | g.114402755T= | CA1873825319 | WHRN | c.1067A= (p.Ter356=) c.2723A= (p.Ter908=) c.1696A= n.2604A= c.1574A= (p.Ter525=) c.1670A= (p.Ter557=) c.2720A= (p.Ter907=) c.2060A= (p.Ter687=) c.2756A= (p.Ter919=) c.2753A= (p.Ter918=) c.2630A= (p.Ter877=) c.2513A= (p.Ter838=) c.1433A= (p.Ter478=) | |
| 9 | g.114402756A= | CA1873825320 | WHRN | c.1066T= (p.Ter356=) c.2722T= (p.Ter908=) c.1695T= n.2603T= c.1573T= (p.Ter525=) c.1669T= (p.Ter557=) c.2719T= (p.Ter907=) c.2059T= (p.Ter687=) c.2755T= (p.Ter919=) c.2752T= (p.Ter918=) c.2629T= (p.Ter877=) c.2512T= (p.Ter838=) c.1432T= (p.Ter478=) | |
| 9 | g.114402756A>C | CA374618725 | WHRN | c.1066T>G (p.Ter356Glu) c.2722T>G (p.Ter908Glu) c.1695T>G n.2603T>G c.1573T>G (p.Ter525Glu) c.1669T>G (p.Ter557Glu) c.2719T>G (p.Ter907Glu) c.2059T>G (p.Ter687Glu) c.2755T>G (p.Ter919Glu) c.2752T>G (p.Ter918Glu) c.2629T>G (p.Ter877Glu) c.2512T>G (p.Ter838Glu) c.1432T>G (p.Ter478Glu) | |
| 9 | g.114402756A>G | CA185551 | WHRN | c.1066T>C (p.Ter356Gln) c.2722T>C (p.Ter908Gln) c.1695T>C n.2603T>C c.1573T>C (p.Ter525Gln) c.1669T>C (p.Ter557Gln) c.2719T>C (p.Ter907Gln) c.2059T>C (p.Ter687Gln) c.2755T>C (p.Ter919Gln) c.2752T>C (p.Ter918Gln) c.2629T>C (p.Ter877Gln) c.2512T>C (p.Ter838Gln) c.1432T>C (p.Ter478Gln) | ClinVar dbSNP gnomAD v4 |
| 9 | g.114402756A>T | CA374618726 | WHRN | c.1066T>A (p.Ter356Lys) c.2722T>A (p.Ter908Lys) c.1695T>A n.2603T>A c.1573T>A (p.Ter525Lys) c.1669T>A (p.Ter557Lys) c.2719T>A (p.Ter907Lys) c.2059T>A (p.Ter687Lys) c.2755T>A (p.Ter919Lys) c.2752T>A (p.Ter918Lys) c.2629T>A (p.Ter877Lys) c.2512T>A (p.Ter838Lys) c.1432T>A (p.Ter478Lys) | |
| 9 | g.114402757G>A | CA466781765 | WHRN | c.1065C>T (p.Leu355=) c.2721C>T (p.Leu907=) c.1694C>T n.2602C>T c.1572C>T (p.Leu524=) c.1668C>T (p.Leu556=) c.2718C>T (p.Leu906=) c.2058C>T (p.Leu686=) c.2754C>T (p.Leu918=) c.2751C>T (p.Leu917=) c.2628C>T (p.Leu876=) c.2511C>T (p.Leu837=) c.1431C>T (p.Leu477=) | |
| 9 | g.114402757G>C | CA466781763 | WHRN | c.1065C>G (p.Leu355=) c.2721C>G (p.Leu907=) c.1694C>G n.2602C>G c.1572C>G (p.Leu524=) c.1668C>G (p.Leu556=) c.2718C>G (p.Leu906=) c.2058C>G (p.Leu686=) c.2754C>G (p.Leu918=) c.2751C>G (p.Leu917=) c.2628C>G (p.Leu876=) c.2511C>G (p.Leu837=) c.1431C>G (p.Leu477=) | dbSNP |
| 9 | g.114402757G= | CA1873825321 | WHRN | c.1065C= (p.Leu355=) c.2721C= (p.Leu907=) c.1694C= n.2602C= c.1572C= (p.Leu524=) c.1668C= (p.Leu556=) c.2718C= (p.Leu906=) c.2058C= (p.Leu686=) c.2754C= (p.Leu918=) c.2751C= (p.Leu917=) c.2628C= (p.Leu876=) c.2511C= (p.Leu837=) c.1431C= (p.Leu477=) | |
| 9 | g.114402757G>T | CA466781764 | WHRN | c.1065C>A (p.Leu355=) c.2721C>A (p.Leu907=) c.1694C>A n.2602C>A c.1572C>A (p.Leu524=) c.1668C>A (p.Leu556=) c.2718C>A (p.Leu906=) c.2058C>A (p.Leu686=) c.2754C>A (p.Leu918=) c.2751C>A (p.Leu917=) c.2628C>A (p.Leu876=) c.2511C>A (p.Leu837=) c.1431C>A (p.Leu477=) | |
| 9 | g.114402758A>C | CA374618727 | WHRN | c.1064T>G (p.Leu355Arg) c.2720T>G (p.Leu907Arg) c.1693T>G n.2601T>G c.1571T>G (p.Leu524Arg) c.1667T>G (p.Leu556Arg) c.2717T>G (p.Leu906Arg) c.2057T>G (p.Leu686Arg) c.2753T>G (p.Leu918Arg) c.2750T>G (p.Leu917Arg) c.2627T>G (p.Leu876Arg) c.2510T>G (p.Leu837Arg) c.1430T>G (p.Leu477Arg) | |
| 9 | g.114402758A>G | CA374618728 | WHRN | c.1064T>C (p.Leu355Pro) c.2720T>C (p.Leu907Pro) c.1693T>C n.2601T>C c.1571T>C (p.Leu524Pro) c.1667T>C (p.Leu556Pro) c.2717T>C (p.Leu906Pro) c.2057T>C (p.Leu686Pro) c.2753T>C (p.Leu918Pro) c.2750T>C (p.Leu917Pro) c.2627T>C (p.Leu876Pro) c.2510T>C (p.Leu837Pro) c.1430T>C (p.Leu477Pro) | gnomAD v4 |
| 9 | g.114402758A>T | CA374618729 | WHRN | c.1064T>A (p.Leu355His) c.2720T>A (p.Leu907His) c.1693T>A n.2601T>A c.1571T>A (p.Leu524His) c.1667T>A (p.Leu556His) c.2717T>A (p.Leu906His) c.2057T>A (p.Leu686His) c.2753T>A (p.Leu918His) c.2750T>A (p.Leu917His) c.2627T>A (p.Leu876His) c.2510T>A (p.Leu837His) c.1430T>A (p.Leu477His) | |
| 9 | g.114402759G>A | CA374618730 | WHRN | c.1063C>T (p.Leu355Phe) c.2719C>T (p.Leu907Phe) c.1692C>T n.2600C>T c.1570C>T (p.Leu524Phe) c.1666C>T (p.Leu556Phe) c.2716C>T (p.Leu906Phe) c.2056C>T (p.Leu686Phe) c.2752C>T (p.Leu918Phe) c.2749C>T (p.Leu917Phe) c.2626C>T (p.Leu876Phe) c.2509C>T (p.Leu837Phe) c.1429C>T (p.Leu477Phe) | gnomAD v4 |
| 9 | g.114402759G>C | CA374618731 | WHRN | c.1063C>G (p.Leu355Val) c.2719C>G (p.Leu907Val) c.1692C>G n.2600C>G c.1570C>G (p.Leu524Val) c.1666C>G (p.Leu556Val) c.2716C>G (p.Leu906Val) c.2056C>G (p.Leu686Val) c.2752C>G (p.Leu918Val) c.2749C>G (p.Leu917Val) c.2626C>G (p.Leu876Val) c.2509C>G (p.Leu837Val) c.1429C>G (p.Leu477Val) | |
| 9 | g.114402759G= | CA1873825322 | WHRN | c.1063C= (p.Leu355=) c.2719C= (p.Leu907=) c.1692C= n.2600C= c.1570C= (p.Leu524=) c.1666C= (p.Leu556=) c.2716C= (p.Leu906=) c.2056C= (p.Leu686=) c.2752C= (p.Leu918=) c.2749C= (p.Leu917=) c.2626C= (p.Leu876=) c.2509C= (p.Leu837=) c.1429C= (p.Leu477=) | |
| 9 | g.114402759G>T | CA374618732 | WHRN | c.1063C>A (p.Leu355Ile) c.2719C>A (p.Leu907Ile) c.1692C>A n.2600C>A c.1570C>A (p.Leu524Ile) c.1666C>A (p.Leu556Ile) c.2716C>A (p.Leu906Ile) c.2056C>A (p.Leu686Ile) c.2752C>A (p.Leu918Ile) c.2749C>A (p.Leu917Ile) c.2626C>A (p.Leu876Ile) c.2509C>A (p.Leu837Ile) c.1429C>A (p.Leu477Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.114402760C>A | CA374618734 | WHRN | c.1062G>T (p.Met354Ile) c.2718G>T (p.Met906Ile) c.1691G>T n.2599G>T c.1569G>T (p.Met523Ile) c.1665G>T (p.Met555Ile) c.2715G>T (p.Met905Ile) c.2055G>T (p.Met685Ile) c.2751G>T (p.Met917Ile) c.2748G>T (p.Met916Ile) c.2625G>T (p.Met875Ile) c.2508G>T (p.Met836Ile) c.1428G>T (p.Met476Ile) | |
| 9 | g.114402760C= | CA1873825323 | WHRN | c.1062G= (p.Met354=) c.2718G= (p.Met906=) c.1691G= n.2599G= c.1569G= (p.Met523=) c.1665G= (p.Met555=) c.2715G= (p.Met905=) c.2055G= (p.Met685=) c.2751G= (p.Met917=) c.2748G= (p.Met916=) c.2625G= (p.Met875=) c.2508G= (p.Met836=) c.1428G= (p.Met476=) | |
| 9 | g.114402760C>G | CA374618733 | WHRN | c.1062G>C (p.Met354Ile) c.2718G>C (p.Met906Ile) c.1691G>C n.2599G>C c.1569G>C (p.Met523Ile) c.1665G>C (p.Met555Ile) c.2715G>C (p.Met905Ile) c.2055G>C (p.Met685Ile) c.2751G>C (p.Met917Ile) c.2748G>C (p.Met916Ile) c.2625G>C (p.Met875Ile) c.2508G>C (p.Met836Ile) c.1428G>C (p.Met476Ile) | |
| 9 | g.114402760C>T | CA5205548 | WHRN | c.1062G>A (p.Met354Ile) c.2718G>A (p.Met906Ile) c.1691G>A n.2599G>A c.1569G>A (p.Met523Ile) c.1665G>A (p.Met555Ile) c.2715G>A (p.Met905Ile) c.2055G>A (p.Met685Ile) c.2751G>A (p.Met917Ile) c.2748G>A (p.Met916Ile) c.2625G>A (p.Met875Ile) c.2508G>A (p.Met836Ile) c.1428G>A (p.Met476Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |