| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.70027800_70027802delinsGCA | CA2435979509 | EDA | c.527-57_527-55delinsGCA (n.527-57_527-55delinsGCA) c.131-57_131-55delinsGCA (n.131-57_131-55delinsGCA) | |
| X | g.70027801C>A | CA2693978724 | EDA | c.527-56C>A (n.527-56C>A) c.131-56C>A (n.131-56C>A) | gnomAD v4 |
| X | g.70027801C>T | CA2520766634 | EDA | c.527-56C>T (n.527-56C>T) c.131-56C>T (n.131-56C>T) | gnomAD v4 |
| X | g.70027801_70027802del | CA1134049053 | EDA | c.527-56_527-55del (n.527-56_527-55del) c.131-56_131-55del (n.131-56_131-55del) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.70027802A= | CA2435979510 | EDA | c.527-55A= (n.527-55A=) c.131-55A= (n.131-55A=) | |
| X | g.70027802A>C | CA2693978725 | EDA | c.527-55A>C (n.527-55A>C) c.131-55A>C (n.131-55A>C) | dbSNP gnomAD v4 |
| X | g.70027802A>G | CA877772232 | EDA | c.527-55A>G (n.527-55A>G) c.131-55A>G (n.131-55A>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.70027802A>T | CA2693978726 | EDA | c.527-55A>T (n.527-55A>T) c.131-55A>T (n.131-55A>T) | gnomAD v4 |
| X | g.70027803A= | CA2435979511 | EDA | c.527-54A= (n.527-54A=) c.131-54A= (n.131-54A=) | |
| X | g.70027803A>C | CA2693978727 | EDA | c.527-54A>C (n.527-54A>C) c.131-54A>C (n.131-54A>C) | gnomAD v4 |
| X | g.70027803A>T | CA1134049054 | EDA | c.527-54A>T (n.527-54A>T) c.131-54A>T (n.131-54A>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.70027804C= | CA2435979512 | EDA | c.527-53C= (n.527-53C=) c.131-53C= (n.131-53C=) | |
| X | g.70027804C>T | CA2693978728 | EDA | c.527-53C>T (n.527-53C>T) c.131-53C>T (n.131-53C>T) | gnomAD v4 |
| X | g.70027805dup | CA2435979513 | EDA | c.527-52dup (n.527-52dup) c.131-52dup (n.131-52dup) | dbSNP gnomAD v4 |
| X | g.70027806G>A | CA2579632452 | EDA | c.527-51G>A (n.527-51G>A) c.131-51G>A (n.131-51G>A) | |
| X | g.70027807A>T | CA2693978729 | EDA | c.527-50A>T (n.527-50A>T) c.131-50A>T (n.131-50A>T) | gnomAD v4 |
| X | g.70027808G>A | CA642473152 | EDA | c.527-49G>A (n.527-49G>A) c.131-49G>A (n.131-49G>A) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.70027808G= | CA2435979514 | EDA | c.527-49G= (n.527-49G=) c.131-49G= (n.131-49G=) | |
| X | g.70027808_70027809delinsGC | CA2435979515 | EDA | c.527-49_527-48delinsGC (n.527-49_527-48delinsGC) c.131-49_131-48delinsGC (n.131-49_131-48delinsGC) | |
| X | g.70027809del | CA642473153 | EDA | c.527-48del (n.527-48del) c.131-48del (n.131-48del) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.70027809C>A | CA2435979516 | EDA | c.527-48C>A (n.527-48C>A) c.131-48C>A (n.131-48C>A) | dbSNP gnomAD v4 |
| X | g.70027809C= | CA2435979517 | EDA | c.527-48C= (n.527-48C=) c.131-48C= (n.131-48C=) | |
| X | g.70027809C>T | CA2693978730 | EDA | c.527-48C>T (n.527-48C>T) c.131-48C>T (n.131-48C>T) | gnomAD v4 |
| X | g.70027810A= | CA2435979518 | EDA | c.527-47A= (n.527-47A=) c.131-47A= (n.131-47A=) | |
| X | g.70027810A>G | CA2435979519 | EDA | c.527-47A>G (n.527-47A>G) c.131-47A>G (n.131-47A>G) | dbSNP gnomAD v4 |
| X | g.70027810A>T | CA2693978731 | EDA | c.527-47A>T (n.527-47A>T) c.131-47A>T (n.131-47A>T) | gnomAD v4 |
| X | g.70027811G>A | CA2435979521 | EDA | c.527-46G>A (n.527-46G>A) c.131-46G>A (n.131-46G>A) | dbSNP gnomAD v4 |
| X | g.70027811G= | CA2435979520 | EDA | c.527-46G= (n.527-46G=) c.131-46G= (n.131-46G=) | |
| X | g.70027811_70027812insA | CA642473154 | EDA | c.527-46_527-45insA (n.527-46_527-45insA) c.131-46_131-45insA (n.131-46_131-45insA) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.70027812G>A | CA10438956 | EDA | c.527-45G>A (n.527-45G>A) c.131-45G>A (n.131-45G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.70027812G= | CA2435979522 | EDA | c.527-45G= (n.527-45G=) c.131-45G= (n.131-45G=) | |
| X | g.70027812G>T | CA2693978732 | EDA | c.527-45G>T (n.527-45G>T) c.131-45G>T (n.131-45G>T) | gnomAD v4 |
| X | g.70027816C>A | CA2693978733 | EDA | c.527-41C>A (n.527-41C>A) c.131-41C>A (n.131-41C>A) | gnomAD v4 |
| X | g.70027817C>A | CA2693978734 | EDA | c.527-40C>A (n.527-40C>A) c.131-40C>A (n.131-40C>A) | gnomAD v4 |
| X | g.70027817C= | CA2435979523 | EDA | c.527-40C= (n.527-40C=) c.131-40C= (n.131-40C=) | |
| X | g.70027817C>T | CA10438957 | EDA | c.527-40C>T (n.527-40C>T) c.131-40C>T (n.131-40C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.70027818G>A | CA10438958 | EDA | c.527-39G>A (n.527-39G>A) c.131-39G>A (n.131-39G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70027818G>C | CA2693978736 | EDA | c.527-39G>C (n.527-39G>C) c.131-39G>C (n.131-39G>C) | gnomAD v4 |
| X | g.70027818G= | CA2435979524 | EDA | c.527-39G= (n.527-39G=) c.131-39G= (n.131-39G=) | |
| X | g.70027818G>T | CA2693978735 | EDA | c.527-39G>T (n.527-39G>T) c.131-39G>T (n.131-39G>T) | gnomAD v4 |
| X | g.70027819T>A | CA2821678336 | EDA | c.527-38T>A (n.527-38T>A) c.131-38T>A (n.131-38T>A) | |
| X | g.70027819T>C | CA2693978737 | EDA | c.527-38T>C (n.527-38T>C) c.131-38T>C (n.131-38T>C) | gnomAD v4 |
| X | g.70027820C>A | CA2693978738 | EDA | c.527-37C>A (n.527-37C>A) c.131-37C>A (n.131-37C>A) | gnomAD v4 |
| X | g.70027821T>A | CA2693978739 | EDA | c.527-36T>A (n.527-36T>A) c.131-36T>A (n.131-36T>A) | gnomAD v4 |
| X | g.70027821T= | CA2435979525 | EDA | c.527-36T= (n.527-36T=) c.131-36T= (n.131-36T=) | |
| X | g.70027821_70027822insA | CA1134049059 | EDA | c.527-36_527-35insA (n.527-36_527-35insA) c.131-36_131-35insA (n.131-36_131-35insA) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.70027821_70027822insG | CA2435979526 | EDA | c.527-36_527-35insG (n.527-36_527-35insG) c.131-36_131-35insG (n.131-36_131-35insG) | dbSNP |
| X | g.70027822C>A | CA330952209 | EDA | c.527-35C>A (n.527-35C>A) c.131-35C>A (n.131-35C>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.70027822C= | CA2435979528 | EDA | c.527-35C= (n.527-35C=) c.131-35C= (n.131-35C=) | |
| X | g.70027822C>G | CA2435979529 | EDA | c.527-35C>G (n.527-35C>G) c.131-35C>G (n.131-35C>G) | dbSNP |
| X | g.70027822_70027823delinsCA | CA2435979527 | EDA | c.527-35_527-34delinsCA (n.527-35_527-34delinsCA) c.131-35_131-34delinsCA (n.131-35_131-34delinsCA) | |
| X | g.70027823A>C | CA2579632453 | EDA | c.527-34A>C (n.527-34A>C) c.131-34A>C (n.131-34A>C) | gnomAD v4 |
| X | g.70027832dup | CA10438960 | EDA | c.527-25dup (n.527-25dup) c.131-25dup (n.131-25dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70027831_70027832dup | CA10438961 | EDA | c.527-26_527-25dup (n.527-26_527-25dup) c.131-26_131-25dup (n.131-26_131-25dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70027830_70027832dup | CA2693978740 | EDA | c.527-27_527-25dup (n.527-27_527-25dup) c.131-27_131-25dup (n.131-27_131-25dup) | gnomAD v4 |
| X | g.70027829_70027832dup | CA2693978741 | EDA | c.527-28_527-25dup (n.527-28_527-25dup) c.131-28_131-25dup (n.131-28_131-25dup) | gnomAD v4 |
| X | g.70027832del | CA10438959 | EDA | c.527-25del (n.527-25del) c.131-25del (n.131-25del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70027831_70027832del | CA642473155 | EDA | c.527-26_527-25del (n.527-26_527-25del) c.131-26_131-25del (n.131-26_131-25del) | gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70027830_70027832del | CA2693978742 | EDA | c.527-27_527-25del (n.527-27_527-25del) c.131-27_131-25del (n.131-27_131-25del) | gnomAD v4 |
| X | g.70027824A= | CA2435979530 | EDA | c.527-33A= (n.527-33A=) c.131-33A= (n.131-33A=) | |
| X | g.70027824A>G | CA10438962 | EDA | c.527-33A>G (n.527-33A>G) c.131-33A>G (n.131-33A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70027826A>G | CA2693978743 | EDA | c.527-31A>G (n.527-31A>G) c.131-31A>G (n.131-31A>G) | gnomAD v4 |
| X | g.70027827A>T | CA2693978744 | EDA | c.527-30A>T (n.527-30A>T) c.131-30A>T (n.131-30A>T) | gnomAD v4 |
| X | g.70027828A>C | CA2579632454 | EDA | c.527-29A>C (n.527-29A>C) c.131-29A>C (n.131-29A>C) | gnomAD v4 |
| X | g.70027829A= | CA2435979531 | EDA | c.527-28A= (n.527-28A=) c.131-28A= (n.131-28A=) | |
| X | g.70027829A>C | CA642473156 | EDA | c.527-28A>C (n.527-28A>C) c.131-28A>C (n.131-28A>C) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.70027830A>C | CA2693978745 | EDA | c.527-27A>C (n.527-27A>C) c.131-27A>C (n.131-27A>C) | gnomAD v4 |
| X | g.70027830A>G | CA2693978746 | EDA | c.527-27A>G (n.527-27A>G) c.131-27A>G (n.131-27A>G) | gnomAD v4 |
| X | g.70027833_70027836del | CA2693978747 | EDA | c.527-24_527-21del (n.527-24_527-21del) c.131-24_131-21del (n.131-24_131-21del) | gnomAD v4 |
| X | g.70027832A>T | CA2693978748 | EDA | c.527-25A>T (n.527-25A>T) c.131-25A>T (n.131-25A>T) | gnomAD v4 |
| X | g.70027832_70027833insC | CA2693978749 | EDA | c.527-25_527-24insC (n.527-25_527-24insC) c.131-25_131-24insC (n.131-25_131-24insC) | gnomAD v4 |
| X | g.70027832_70027833insT | CA2693978750 | EDA | c.527-25_527-24insT (n.527-25_527-24insT) c.131-25_131-24insT (n.131-25_131-24insT) | gnomAD v4 |
| X | g.70027833G>A | CA2693978751 | EDA | c.527-24G>A (n.527-24G>A) c.131-24G>A (n.131-24G>A) | gnomAD v4 |
| X | g.70027833G= | CA2435979532 | EDA | c.527-24G= (n.527-24G=) c.131-24G= (n.131-24G=) | |
| X | g.70027834T>A | CA642473157 | EDA | c.527-23T>A (n.527-23T>A) c.131-23T>A (n.131-23T>A) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.70027834T>C | CA2693978752 | EDA | c.527-23T>C (n.527-23T>C) c.131-23T>C (n.131-23T>C) | gnomAD v4 |
| X | g.70027834T>G | CA2693978753 | EDA | c.527-23T>G (n.527-23T>G) c.131-23T>G (n.131-23T>G) | gnomAD v4 |
| X | g.70027834T= | CA2435979533 | EDA | c.527-23T= (n.527-23T=) c.131-23T= (n.131-23T=) | |
| X | g.70027834dup | CA915883146 | EDA | c.527-23dup (n.527-23dup) c.131-23dup (n.131-23dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70027836A>C | CA2693978754 | EDA | c.527-21A>C (n.527-21A>C) c.131-21A>C (n.131-21A>C) | gnomAD v4 |
| X | g.70027837C>A | CA642473158 | EDA | c.527-20C>A (n.527-20C>A) c.131-20C>A (n.131-20C>A) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.70027837C= | CA2435979534 | EDA | c.527-20C= (n.527-20C=) c.131-20C= (n.131-20C=) | |
| X | g.70027838del | CA2693978755 | EDA | c.527-19del (n.527-19del) c.131-19del (n.131-19del) | gnomAD v4 |
| X | g.70027838A= | CA2435979535 | EDA | c.527-19A= (n.527-19A=) c.131-19A= (n.131-19A=) | |
| X | g.70027838A>G | CA877772259 | EDA | c.527-19A>G (n.527-19A>G) c.131-19A>G (n.131-19A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.70027839del | CA2739273560 | EDA | c.527-18del (n.527-18del) c.131-18del (n.131-18del) | ClinVar |
| X | g.70027839C>A | CA2693978756 | EDA | c.527-18C>A (n.527-18C>A) c.131-18C>A (n.131-18C>A) | gnomAD v4 |
| X | g.70027840T>C | CA2693978757 | EDA | c.527-17T>C (n.527-17T>C) c.131-17T>C (n.131-17T>C) | gnomAD v4 |
| X | g.70027841G>C | CA2579632455 | EDA | c.527-16G>C (n.527-16G>C) c.131-16G>C (n.131-16G>C) | |
| X | g.70027842A>T | CA2693978758 | EDA | c.527-15A>T (n.527-15A>T) c.131-15A>T (n.131-15A>T) | gnomAD v4 |
| X | g.70027844T>A | CA2693978759 | EDA | c.527-13T>A (n.527-13T>A) c.131-13T>A (n.131-13T>A) | gnomAD v4 |
| X | g.70027844T>G | CA2693978760 | EDA | c.527-13T>G (n.527-13T>G) c.131-13T>G (n.131-13T>G) | gnomAD v4 |
| X | g.70027846C>A | CA2693978761 | EDA | c.527-11C>A (n.527-11C>A) c.131-11C>A (n.131-11C>A) | gnomAD v4 |
| X | g.70027847T>A | CA2693978762 | EDA | c.527-10T>A (n.527-10T>A) c.131-10T>A (n.131-10T>A) | gnomAD v4 |
| X | g.70027848A= | CA2435979536 | EDA | c.527-9A= (n.527-9A=) c.131-9A= (n.131-9A=) | |
| X | g.70027848A>G | CA2435979537 | EDA | c.527-9A>G (n.527-9A>G) c.131-9A>G (n.131-9A>G) | ClinVar dbSNP gnomAD v4 |
| X | g.70027848A>T | CA2579632456 | EDA | c.527-9A>T (n.527-9A>T) c.131-9A>T (n.131-9A>T) | |
| X | g.70027849T>C | CA2579632457 | EDA | c.527-8T>C (n.527-8T>C) c.131-8T>C (n.131-8T>C) | |
| X | g.70027853del | CA2693978763 | EDA | c.527-4del (n.527-4del) c.131-4del (n.131-4del) | gnomAD v4 |
| X | g.70027850T>C | CA2573159011 | EDA | c.527-7T>C (n.527-7T>C) c.131-7T>C (n.131-7T>C) | ClinVar dbSNP |
| X | g.70027851T>G | CA10577175 | EDA | c.527-6T>G (n.527-6T>G) c.131-6T>G (n.131-6T>G) | ClinVar dbSNP |
| X | g.70027851T= | CA2435979538 | EDA | c.527-6T= (n.527-6T=) c.131-6T= (n.131-6T=) | |
| X | g.70027854C>A | CA2579632458 | EDA | c.527-3C>A (n.527-3C>A) c.131-3C>A (n.131-3C>A) | gnomAD v4 |
| X | g.70027854C>G | CA2695234197 | EDA | c.527-3C>G (n.527-3C>G) c.131-3C>G (n.131-3C>G) | |
| X | g.70027855A= | CA2435979539 | EDA | c.527-2A= (n.527-2A=) c.131-2A= (n.131-2A=) | |
| X | g.70027855A>C | CA413448169 | EDA | c.527-2A>C (n.527-2A>C) c.131-2A>C (n.131-2A>C) | gnomAD v4 |
| X | g.70027855A>G | CA413448168 | EDA | c.527-2A>G (n.527-2A>G) c.131-2A>G (n.131-2A>G) | gnomAD v4 |
| X | g.70027855A>T | CA413448167 | EDA | c.527-2A>T (n.527-2A>T) c.131-2A>T (n.131-2A>T) | ClinVar dbSNP |
| X | g.70027856G>A | CA413448170 | EDA | c.527-1G>A (n.527-1G>A) c.131-1G>A (n.131-1G>A) | |
| X | g.70027856G>C | CA413448171 | EDA | c.527-1G>C (n.527-1G>C) c.131-1G>C (n.131-1G>C) | |
| X | g.70027856G>T | CA413448172 | EDA | c.527-1G>T (n.527-1G>T) c.131-1G>T (n.131-1G>T) | gnomAD v4 |
| X | g.70027857G>A | CA413448173 | EDA | c.527G>A (p.Gly176Glu) c.131G>A (p.Gly44Glu) | |
| X | g.70027857G>C | CA413448174 | EDA | c.527G>C (p.Gly176Ala) c.131G>C (p.Gly44Ala) | |
| X | g.70027857G>T | CA413448175 | EDA | c.527G>T (p.Gly176Val) c.131G>T (p.Gly44Val) | gnomAD v4 |
| X | g.70027858A>C | CA517012642 | EDA | c.528A>C (p.Gly176=) c.132A>C (p.Gly44=) | |
| X | g.70027858A>G | CA517012644 | EDA | c.528A>G (p.Gly176=) c.132A>G (p.Gly44=) | ClinVar dbSNP gnomAD v4 |
| X | g.70027858A>T | CA517012643 | EDA | c.528A>T (p.Gly176=) c.132A>T (p.Gly44=) | |
| X | g.70027859A>C | CA413448176 | EDA | c.529A>C (p.Lys177Gln) c.133A>C (p.Lys45Gln) | |
| X | g.70027859A>G | CA413448178 | EDA | c.529A>G (p.Lys177Glu) c.133A>G (p.Lys45Glu) | |
| X | g.70027859A>T | CA413448177 | EDA | c.529A>T (p.Lys177Ter) c.133A>T (p.Lys45Ter) | |
| X | g.70027860A= | CA2435979540 | EDA | c.530A= (p.Lys177=) c.134A= (p.Lys45=) | |
| X | g.70027860A>C | CA413448179 | EDA | c.530A>C (p.Lys177Thr) c.134A>C (p.Lys45Thr) | |
| X | g.70027860A>G | CA413448180 | EDA | c.530A>G (p.Lys177Arg) c.134A>G (p.Lys45Arg) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.70027860A>T | CA413448181 | EDA | c.530A>T (p.Lys177Met) c.134A>T (p.Lys45Met) | |
| X | g.70027861G>A | CA517012645 | EDA | c.531G>A (p.Lys177=) c.135G>A (p.Lys45=) | |
| X | g.70027861G>C | CA10438963 | EDA | c.531G>C (p.Lys177Asn) c.135G>C (p.Lys45Asn) | dbSNP ExAC gnomAD v2 |
| X | g.70027861G= | CA2435979541 | EDA | c.531G= (p.Lys177=) c.135G= (p.Lys45=) | |
| X | g.70027861G>T | CA413448182 | EDA | c.531G>T (p.Lys177Asn) c.135G>T (p.Lys45Asn) | |
| X | g.70027862A>C | CA413448183 | EDA | c.532A>C (p.Lys178Gln) c.136A>C (p.Lys46Gln) | |
| X | g.70027862A>G | CA413448184 | EDA | c.532A>G (p.Lys178Glu) c.136A>G (p.Lys46Glu) | ClinVar gnomAD v4 |
| X | g.70027862A>T | CA413448185 | EDA | c.532A>T (p.Lys178Ter) c.136A>T (p.Lys46Ter) | |
| X | g.70027862_70027864delinsG | CA2695234198 | EDA | c.532_534delinsG (p.Lys178GlyfsTer?) c.136_138delinsG (p.Lys46GlyfsTer?) | |
| X | g.70027863A>C | CA413448186 | EDA | c.533A>C (p.Lys178Thr) c.137A>C (p.Lys46Thr) | |
| X | g.70027863A>G | CA413448187 | EDA | c.533A>G (p.Lys178Arg) c.137A>G (p.Lys46Arg) | gnomAD v4 |
| X | g.70027863A>T | CA413448188 | EDA | c.533A>T (p.Lys178Ile) c.137A>T (p.Lys46Ile) | |
| X | g.70027863_70027874del | CA2580101362 | EDA | c.533_544del (p.Lys178_Pro182delinsThr) c.137_148del (p.Lys46_Pro50delinsThr) | ClinVar |
| X | g.70027863_70027882delinsCTGAA | CA2695234199 | EDA | c.533_552delinsCTGAA (p.Lys178_Pro184delinsThrGlu) c.137_156delinsCTGAA (p.Lys46_Pro52delinsThrGlu) | |
| X | g.70027864A>C | CA413448190 | EDA | c.534A>C (p.Lys178Asn) c.138A>C (p.Lys46Asn) | |
| X | g.70027864A>G | CA517012646 | EDA | c.534A>G (p.Lys178=) c.138A>G (p.Lys46=) | |
| X | g.70027864A>T | CA413448189 | EDA | c.534A>T (p.Lys178Asn) c.138A>T (p.Lys46Asn) | |
| X | g.70027865G>A | CA413448191 | EDA | c.535G>A (p.Ala179Thr) c.139G>A (p.Ala47Thr) | |
| X | g.70027865G>C | CA413448193 | EDA | c.535G>C (p.Ala179Pro) c.139G>C (p.Ala47Pro) | gnomAD v4 |
| X | g.70027865G>T | CA413448192 | EDA | c.535G>T (p.Ala179Ser) c.139G>T (p.Ala47Ser) | gnomAD v4 |
| X | g.70027865_70027901delinsGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCC | CA2435979542 | EDA | c.535_571delinsGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCC (p.Ala179=) c.139_175delinsGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCC (p.Ala47=) | |
| X | g.70027866C>A | CA413448194 | EDA | c.536C>A (p.Ala179Glu) c.140C>A (p.Ala47Glu) | gnomAD v4 |
| X | g.70027866C>G | CA413448196 | EDA | c.536C>G (p.Ala179Gly) c.140C>G (p.Ala47Gly) | |
| X | g.70027866C>T | CA413448195 | EDA | c.536C>T (p.Ala179Val) c.140C>T (p.Ala47Val) | gnomAD v4 |
| X | g.70027873_70027899del | CA2697553198 | EDA | c.543_569del (p.Pro182_Pro190del) c.147_173del (p.Pro50_Pro58del) | ClinVar |
| X | g.70027876_70027911del | CA261494 | EDA | c.546_581del (p.Gly183_Pro194del) c.150_185del (p.Gly51_Pro62del) | ClinVar dbSNP gnomAD v4 |
| X | g.70027867A>C | CA517012647 | EDA | c.537A>C (p.Ala179=) c.141A>C (p.Ala47=) | |
| X | g.70027867A>G | CA517012648 | EDA | c.537A>G (p.Ala179=) c.141A>G (p.Ala47=) | |
| X | g.70027867A>T | CA517012649 | EDA | c.537A>T (p.Ala179=) c.141A>T (p.Ala47=) | |
| X | g.70027868_70027870dup | CA2693978764 | EDA | c.538_540dup (p.Gly180_Pro181insGly) c.142_144dup (p.Gly48_Pro49insGly) | gnomAD v4 |
| X | g.70027868G>A | CA413448197 | EDA | c.538G>A (p.Gly180Arg) c.142G>A (p.Gly48Arg) | |
| X | g.70027868G>C | CA413448198 | EDA | c.538G>C (p.Gly180Arg) c.142G>C (p.Gly48Arg) | |
| X | g.70027868G>T | CA413448199 | EDA | c.538G>T (p.Gly180Ter) c.142G>T (p.Gly48Ter) | gnomAD v4 |
| X | g.70027869G>A | CA413448200 | EDA | c.539G>A (p.Gly180Glu) c.143G>A (p.Gly48Glu) | |
| X | g.70027869G>C | CA413448201 | EDA | c.539G>C (p.Gly180Ala) c.143G>C (p.Gly48Ala) | |
| X | g.70027869G>T | CA413448202 | EDA | c.539G>T (p.Gly180Val) c.143G>T (p.Gly48Val) | gnomAD v4 |
| X | g.70027870A>C | CA517012650 | EDA | c.540A>C (p.Gly180=) c.144A>C (p.Gly48=) | gnomAD v4 |
| X | g.70027870A>G | CA517012651 | EDA | c.540A>G (p.Gly180=) c.144A>G (p.Gly48=) | ClinVar |
| X | g.70027870A>T | CA517012652 | EDA | c.540A>T (p.Gly180=) c.144A>T (p.Gly48=) | |
| X | g.70027871C>A | CA413448203 | EDA | c.541C>A (p.Pro181Thr) c.145C>A (p.Pro49Thr) | gnomAD v4 |
| X | g.70027871C>G | CA413448204 | EDA | c.541C>G (p.Pro181Ala) c.145C>G (p.Pro49Ala) | |
| X | g.70027871C>T | CA413448205 | EDA | c.541C>T (p.Pro181Ser) c.145C>T (p.Pro49Ser) | |
| X | g.70027876_70027893del | CA2693978765 | EDA | c.546_563del (p.Gly183_Pro188del) c.150_167del (p.Gly51_Pro56del) | gnomAD v4 |
| X | g.70027872C>A | CA413448206 | EDA | c.542C>A (p.Pro181His) c.146C>A (p.Pro49His) | gnomAD v4 |
| X | g.70027872C= | CA2435979543 | EDA | c.542C= (p.Pro181=) c.146C= (p.Pro49=) | |
| X | g.70027872C>G | CA413448207 | EDA | c.542C>G (p.Pro181Arg) c.146C>G (p.Pro49Arg) | gnomAD v4 |
| X | g.70027872C>T | CA413448208 | EDA | c.542C>T (p.Pro181Leu) c.146C>T (p.Pro49Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.70027873T>A | CA517012653 | EDA | c.543T>A (p.Pro181=) c.147T>A (p.Pro49=) | gnomAD v4 |
| X | g.70027873T>C | CA517012654 | EDA | c.543T>C (p.Pro181=) c.147T>C (p.Pro49=) | gnomAD v4 |
| X | g.70027873T>G | CA517012655 | EDA | c.543T>G (p.Pro181=) c.147T>G (p.Pro49=) | |
| X | g.70027874C>A | CA413448209 | EDA | c.544C>A (p.Pro182Thr) c.148C>A (p.Pro50Thr) | gnomAD v4 |
| X | g.70027874C= | CA2435979544 | EDA | c.544C= (p.Pro182=) c.148C= (p.Pro50=) | |
| X | g.70027874C>G | CA413448211 | EDA | c.544C>G (p.Pro182Ala) c.148C>G (p.Pro50Ala) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.70027874C>T | CA413448210 | EDA | c.544C>T (p.Pro182Ser) c.148C>T (p.Pro50Ser) | |
| X | g.70027875C>A | CA413448212 | EDA | c.545C>A (p.Pro182His) c.149C>A (p.Pro50His) | gnomAD v4 |
| X | g.70027875C= | CA2435979545 | EDA | c.545C= (p.Pro182=) c.149C= (p.Pro50=) | |
| X | g.70027875C>G | CA413448213 | EDA | c.545C>G (p.Pro182Arg) c.149C>G (p.Pro50Arg) | |
| X | g.70027875C>T | CA413448214 | EDA | c.545C>T (p.Pro182Leu) c.149C>T (p.Pro50Leu) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.70027876T>A | CA517012656 | EDA | c.546T>A (p.Pro182=) c.150T>A (p.Pro50=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.70027876T>C | CA517012657 | EDA | c.546T>C (p.Pro182=) c.150T>C (p.Pro50=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70027876T>G | CA10438964 | EDA | c.546T>G (p.Pro182=) c.150T>G (p.Pro50=) | ClinVar dbSNP ExAC gnomAD v4 |
| X | g.70027876T= | CA2435979547 | EDA | c.546T= (p.Pro182=) c.150T= (p.Pro50=) | |
| X | g.70027876_70027912delinsTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCA | CA2435979546 | EDA | c.546_582delinsTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCA (p.Pro182=) c.150_186delinsTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCA (p.Pro50=) | |
| X | g.70027877G>A | CA413448215 | EDA | c.547G>A (p.Gly183Arg) c.151G>A (p.Gly51Arg) | gnomAD v4 |
| X | g.70027877G>C | CA413448216 | EDA | c.547G>C (p.Gly183Arg) c.151G>C (p.Gly51Arg) | |
| X | g.70027877G= | CA2435979548 | EDA | c.547G= (p.Gly183=) c.151G= (p.Gly51=) | |
| X | g.70027877G>T | CA413448217 | EDA | c.547G>T (p.Gly183Ter) c.151G>T (p.Gly51Ter) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.70027878del | CA2579632459 | EDA | c.548del (p.Gly183AspfsTer?) c.152del (p.Gly51AspfsTer?) | |
| X | g.70027882_70027908del | CA2573159012 | EDA | c.552_578del (p.Asn185_Pro193del) c.156_182del (p.Asn53_Pro61del) | ClinVar dbSNP |
| X | g.70027883_70027918del | CA261496 | EDA | c.553_588del (p.Asn185_Pro196del) c.157_192del (p.Asn53_Pro64del) | ClinVar dbSNP |
| X | g.70027878G>A | CA413448218 | EDA | c.548G>A (p.Gly183Glu) c.152G>A (p.Gly51Glu) | |
| X | g.70027878G>C | CA413448219 | EDA | c.548G>C (p.Gly183Ala) c.152G>C (p.Gly51Ala) | |
| X | g.70027878G>T | CA413448220 | EDA | c.548G>T (p.Gly183Val) c.152G>T (p.Gly51Val) | gnomAD v4 |
| X | g.70027879A>C | CA517012660 | EDA | c.549A>C (p.Gly183=) c.153A>C (p.Gly51=) | |
| X | g.70027879A>G | CA517012658 | EDA | c.549A>G (p.Gly183=) c.153A>G (p.Gly51=) | gnomAD v4 |
| X | g.70027879A>T | CA517012659 | EDA | c.549A>T (p.Gly183=) c.153A>T (p.Gly51=) | |
| X | g.70027880C>A | CA413448221 | EDA | c.550C>A (p.Pro184Thr) c.154C>A (p.Pro52Thr) | gnomAD v4 COSMIC COSMIC |
| X | g.70027880C>G | CA413448222 | EDA | c.550C>G (p.Pro184Ala) c.154C>G (p.Pro52Ala) | |
| X | g.70027880C>T | CA413448223 | EDA | c.550C>T (p.Pro184Ser) c.154C>T (p.Pro52Ser) | ClinVar gnomAD v4 |
| X | g.70027882del | CA2693978766 | EDA | c.552del (p.Asn185MetfsTer?) c.156del (p.Asn53MetfsTer?) | gnomAD v4 |
| X | g.70027881C>A | CA413448224 | EDA | c.551C>A (p.Pro184His) c.155C>A (p.Pro52His) | gnomAD v4 |
| X | g.70027881C= | CA2435979549 | EDA | c.551C= (p.Pro184=) c.155C= (p.Pro52=) | |
| X | g.70027881C>G | CA413448225 | EDA | c.551C>G (p.Pro184Arg) c.155C>G (p.Pro52Arg) | gnomAD v4 |
| X | g.70027881C>T | CA413448226 | EDA | c.551C>T (p.Pro184Leu) c.155C>T (p.Pro52Leu) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.70027882C>A | CA517012661 | EDA | c.552C>A (p.Pro184=) c.156C>A (p.Pro52=) | ClinVar gnomAD v4 |
| X | g.70027882C>G | CA517012662 | EDA | c.552C>G (p.Pro184=) c.156C>G (p.Pro52=) | gnomAD v4 |
| X | g.70027882C>T | CA517012663 | EDA | c.552C>T (p.Pro184=) c.156C>T (p.Pro52=) | gnomAD v4 |
| X | g.70027883A>C | CA413448227 | EDA | c.553A>C (p.Asn185His) c.157A>C (p.Asn53His) | |
| X | g.70027883A>G | CA413448228 | EDA | c.553A>G (p.Asn185Asp) c.157A>G (p.Asn53Asp) | |
| X | g.70027883A>T | CA413448229 | EDA | c.553A>T (p.Asn185Tyr) c.157A>T (p.Asn53Tyr) | gnomAD v4 |
| X | g.70027884A= | CA2435979550 | EDA | c.554A= (p.Asn185=) c.158A= (p.Asn53=) | |
| X | g.70027884A>C | CA413448230 | EDA | c.554A>C (p.Asn185Thr) c.158A>C (p.Asn53Thr) | |
| X | g.70027884A>G | CA413448231 | EDA | c.554A>G (p.Asn185Ser) c.158A>G (p.Asn53Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70027884A>T | CA413448232 | EDA | c.554A>T (p.Asn185Ile) c.158A>T (p.Asn53Ile) | |
| X | g.70027885T>A | CA413448233 | EDA | c.555T>A (p.Asn185Lys) c.159T>A (p.Asn53Lys) | |
| X | g.70027885T>C | CA517012664 | EDA | c.555T>C (p.Asn185=) c.159T>C (p.Asn53=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70027885T>G | CA413448234 | EDA | c.555T>G (p.Asn185Lys) c.159T>G (p.Asn53Lys) | gnomAD v4 |
| X | g.70027885T= | CA2435979551 | EDA | c.555T= (p.Asn185=) c.159T= (p.Asn53=) | |
| X | g.70027886G>A | CA413448237 | EDA | c.556G>A (p.Gly186Ser) c.160G>A (p.Gly54Ser) | gnomAD v4 |
| X | g.70027886G>C | CA413448235 | EDA | c.556G>C (p.Gly186Arg) c.160G>C (p.Gly54Arg) | gnomAD v4 |
| X | g.70027886G>T | CA413448236 | EDA | c.556G>T (p.Gly186Cys) c.160G>T (p.Gly54Cys) | gnomAD v4 |
| X | g.70027888_70027896dup | CA1134049083 | EDA | c.558_566dup (p.Gly189_Pro190insProProGly) c.162_170dup (p.Gly57_Pro58insProProGly) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.70027887G>A | CA413448238 | EDA | c.557G>A (p.Gly186Asp) c.161G>A (p.Gly54Asp) | |
| X | g.70027887G>C | CA413448239 | EDA | c.557G>C (p.Gly186Ala) c.161G>C (p.Gly54Ala) | |
| X | g.70027887G= | CA2435979552 | EDA | c.557G= (p.Gly186=) c.161G= (p.Gly54=) | |
| X | g.70027887G>T | CA413448240 | EDA | c.557G>T (p.Gly186Val) c.161G>T (p.Gly54Val) | |
| X | g.70027888C>A | CA517012665 | EDA | c.558C>A (p.Gly186=) c.162C>A (p.Gly54=) | gnomAD v4 |
| X | g.70027888C= | CA2435979554 | EDA | c.558C= (p.Gly186=) c.162C= (p.Gly54=) | |
| X | g.70027888C>G | CA517012666 | EDA | c.558C>G (p.Gly186=) c.162C>G (p.Gly54=) | |
| X | g.70027888C>T | CA517012667 | EDA | c.558C>T (p.Gly186=) c.162C>T (p.Gly54=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.70027890dup | CA658659003 | EDA | c.560dup (p.Pro188SerfsTer?) c.164dup (p.Pro56SerfsTer?) | ClinVar dbSNP |
| X | g.70027890del | CA2693978767 | EDA | c.560del (p.Pro187LeufsTer?) c.164del (p.Pro55LeufsTer?) | gnomAD v4 |
| X | g.70027888_70027906delinsCCCTCCAGGACCCCCAGGA | CA2435979553 | EDA | c.558_576delinsCCCTCCAGGACCCCCAGGA (p.Gly186=) c.162_180delinsCCCTCCAGGACCCCCAGGA (p.Gly54=) | |
| X | g.70027889C>A | CA413448241 | EDA | c.559C>A (p.Pro187Thr) c.163C>A (p.Pro55Thr) | gnomAD v4 |
| X | g.70027889C>G | CA413448242 | EDA | c.559C>G (p.Pro187Ala) c.163C>G (p.Pro55Ala) | |
| X | g.70027889C>T | CA413448243 | EDA | c.559C>T (p.Pro187Ser) c.163C>T (p.Pro55Ser) | gnomAD v4 |
| X | g.70027902_70027919dup | CA642473159 | EDA | c.572_589dup (p.Pro196_Gln197insProGlyProProGlyPro) c.176_193dup (p.Pro64_Gln65insProGlyProProGlyPro) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.70027902_70027919del | CA261498 | EDA | c.572_589del (p.Pro191_Pro196del) c.176_193del (p.Pro59_Pro64del) | ClinVar dbSNP gnomAD v4 |
| X | g.70027890C>A | CA413448244 | EDA | c.560C>A (p.Pro187His) c.164C>A (p.Pro55His) | gnomAD v4 |
| X | g.70027890C>G | CA413448245 | EDA | c.560C>G (p.Pro187Arg) c.164C>G (p.Pro55Arg) | |
| X | g.70027890C>T | CA413448246 | EDA | c.560C>T (p.Pro187Leu) c.164C>T (p.Pro55Leu) | |
| X | g.70027891T>A | CA517012668 | EDA | c.561T>A (p.Pro187=) c.165T>A (p.Pro55=) | gnomAD v4 |
| X | g.70027891T>C | CA10438965 | EDA | c.561T>C (p.Pro187=) c.165T>C (p.Pro55=) | dbSNP ExAC gnomAD v4 |
| X | g.70027891T>G | CA517012669 | EDA | c.561T>G (p.Pro187=) c.165T>G (p.Pro55=) | |
| X | g.70027891T= | CA2435979556 | EDA | c.561T= (p.Pro187=) c.165T= (p.Pro55=) | |
| X | g.70027891_70027900delinsTCCAGGACCC | CA2435979555 | EDA | c.561_570delinsTCCAGGACCC (p.Pro187=) c.165_174delinsTCCAGGACCC (p.Pro55=) | |
| X | g.70027891_70027919delinsTCCAGGACCCCCAGGACCTCCAGGACCCC | CA2435979557 | EDA | c.561_589delinsTCCAGGACCCCCAGGACCTCCAGGACCCC (p.Pro187=) c.165_193delinsTCCAGGACCCCCAGGACCTCCAGGACCCC (p.Pro55=) | |
| X | g.70027892C>A | CA413448249 | EDA | c.562C>A (p.Pro188Thr) c.166C>A (p.Pro56Thr) | |
| X | g.70027892C= | CA2435979558 | EDA | c.562C= (p.Pro188=) c.166C= (p.Pro56=) | |
| X | g.70027892C>G | CA413448248 | EDA | c.562C>G (p.Pro188Ala) c.166C>G (p.Pro56Ala) | |
| X | g.70027892C>T | CA413448247 | EDA | c.562C>T (p.Pro188Ser) c.166C>T (p.Pro56Ser) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.70027893del | CA2693978768 | EDA | c.563del (p.Pro188GlnfsTer?) c.167del (p.Pro56GlnfsTer?) | gnomAD v4 |
| X | g.70027900_70027908del | CA330952210 | EDA | c.570_578del (p.Pro191_Pro193del) c.174_182del (p.Pro59_Pro61del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70027892_70027919del | CA261497 | EDA | c.562_589del (p.Pro188ArgfsTer?) c.166_193del (p.Pro56ArgfsTer?) | ClinVar dbSNP |
| X | g.70027893C>A | CA413448250 | EDA | c.563C>A (p.Pro188Gln) c.167C>A (p.Pro56Gln) | gnomAD v4 |
| X | g.70027893C>G | CA413448252 | EDA | c.563C>G (p.Pro188Arg) c.167C>G (p.Pro56Arg) | |
| X | g.70027893C>T | CA413448251 | EDA | c.563C>T (p.Pro188Leu) c.167C>T (p.Pro56Leu) | |
| X | g.70027894A>C | CA517012672 | EDA | c.564A>C (p.Pro188=) c.168A>C (p.Pro56=) | |
| X | g.70027894A>G | CA517012670 | EDA | c.564A>G (p.Pro188=) c.168A>G (p.Pro56=) | ClinVar gnomAD v4 |
| X | g.70027894A>T | CA517012671 | EDA | c.564A>T (p.Pro188=) c.168A>T (p.Pro56=) | gnomAD v4 |
| X | g.70027895G>A | CA413448253 | EDA | c.565G>A (p.Gly189Arg) c.169G>A (p.Gly57Arg) | ClinVar gnomAD v4 |
| X | g.70027895G>C | CA413448254 | EDA | c.565G>C (p.Gly189Arg) c.169G>C (p.Gly57Arg) | |
| X | g.70027895G>T | CA413448255 | EDA | c.565G>T (p.Gly189Ter) c.169G>T (p.Gly57Ter) | gnomAD v4 |
| X | g.70027896G>A | CA413448256 | EDA | c.566G>A (p.Gly189Glu) c.170G>A (p.Gly57Glu) | gnomAD v4 |
| X | g.70027896G>C | CA413448257 | EDA | c.566G>C (p.Gly189Ala) c.170G>C (p.Gly57Ala) | |
| X | g.70027896G>T | CA413448258 | EDA | c.566G>T (p.Gly189Val) c.170G>T (p.Gly57Val) | gnomAD v4 |
| X | g.70027897A= | CA2435979559 | EDA | c.567A= (p.Gly189=) c.171A= (p.Gly57=) | |
| X | g.70027897A>C | CA517012673 | EDA | c.567A>C (p.Gly189=) c.171A>C (p.Gly57=) | dbSNP |
| X | g.70027897A>G | CA517012674 | EDA | c.567A>G (p.Gly189=) c.171A>G (p.Gly57=) | gnomAD v4 |
| X | g.70027897A>T | CA517012675 | EDA | c.567A>T (p.Gly189=) c.171A>T (p.Gly57=) | |
| X | g.70027898C>A | CA413448259 | EDA | c.568C>A (p.Pro190Thr) c.172C>A (p.Pro58Thr) | gnomAD v4 |
| X | g.70027898C>G | CA413448260 | EDA | c.568C>G (p.Pro190Ala) c.172C>G (p.Pro58Ala) | |
| X | g.70027898C>T | CA413448261 | EDA | c.568C>T (p.Pro190Ser) c.172C>T (p.Pro58Ser) | gnomAD v4 |
| X | g.70027902del | CA2693978769 | EDA | c.572del (p.Pro191GlnfsTer?) c.176del (p.Pro59GlnfsTer?) | ClinVar dbSNP gnomAD v4 |
| X | g.70027899C>A | CA413448262 | EDA | c.569C>A (p.Pro190His) c.173C>A (p.Pro58His) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.70027899C= | CA2435979560 | EDA | c.569C= (p.Pro190=) c.173C= (p.Pro58=) | |
| X | g.70027899C>G | CA413448263 | EDA | c.569C>G (p.Pro190Arg) c.173C>G (p.Pro58Arg) | |
| X | g.70027899C>T | CA413448264 | EDA | c.569C>T (p.Pro190Leu) c.173C>T (p.Pro58Leu) | |
| X | g.70027906_70027922del | CA2499226811 | EDA | c.576_592del (p.Pro193ThrfsTer?) c.180_196del (p.Pro61ThrfsTer?) | ClinVar dbSNP |
| X | g.70027900C>A | CA517012676 | EDA | c.570C>A (p.Pro190=) c.174C>A (p.Pro58=) | gnomAD v4 |
| X | g.70027900C= | CA2435979561 | EDA | c.570C= (p.Pro190=) c.174C= (p.Pro58=) | |
| X | g.70027900C>G | CA517012678 | EDA | c.570C>G (p.Pro190=) c.174C>G (p.Pro58=) | |
| X | g.70027900C>T | CA517012677 | EDA | c.570C>T (p.Pro190=) c.174C>T (p.Pro58=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.70027900_70027909delinsCCCAGGACCT | CA2435979562 | EDA | c.570_579delinsCCCAGGACCT (p.Pro190=) c.174_183delinsCCCAGGACCT (p.Pro58=) | |
| X | g.70027901C>A | CA413448265 | EDA | c.571C>A (p.Pro191Thr) c.175C>A (p.Pro59Thr) | gnomAD v4 |
| X | g.70027901C>G | CA413448267 | EDA | c.571C>G (p.Pro191Ala) c.175C>G (p.Pro59Ala) | |
| X | g.70027901C>T | CA413448266 | EDA | c.571C>T (p.Pro191Ser) c.175C>T (p.Pro59Ser) | gnomAD v4 |
| X | g.70027909_70027917del | CA877772384 | EDA | c.579_587del (p.Pro194_Pro196del) c.183_191del (p.Pro62_Pro64del) | dbSNP gnomAD v4 |